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 EIF4G2 1982 broad.mit.edu 37 11 10823638 10823638 + Silent SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:10823638T>C ENST00000526148.1 - 13 1767 c.1257A>G c.(1255-1257)caA>caG p.Q419Q EIF4G2_ENST00000339995.5_Silent_p.Q419Q|EIF4G2_ENST00000525681.1_Silent_p.Q419Q|EIF4G2_ENST00000396525.2_Silent_p.Q419Q NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 419 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CAAACTGCGATTGTGTGGGAG 0.428000 19 61 0 0 1 0 0 WSB1 26118 broad.mit.edu 37 17 25631813 25631813 + Silent SNP C C A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:25631813C>A ENST00000262394.2 + 4 802 c.486C>A c.(484-486)ctC>ctA p.L162L WSB1_ENST00000579733.1_Silent_p.L16L|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Silent_p.L162L|WSB1_ENST00000348811.2_Silent_p.L16L|WSB1_ENST00000427287.2_Silent_p.L131L NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 162 intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TAGGAAAACTCCTCCTTAACT 0.358000 13 32 1.49906e-05 1.52458e-05 1 1 0 ADCY10 55811 broad.mit.edu 37 1 167798634 167798634 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:167798634C>T ENST00000367848.1 - 26 3842 c.3345G>A c.(3343-3345)cgG>cgA p.R1115R ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.R1207R|ADCY10_ENST00000545172.1_Silent_p.R1054R Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1207 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding p.R1207R(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AGACAGTTTGCCGGTAAAGTT 0.423000 5 92 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72425365 72425365 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:72425365G>A ENST00000333850.3 + 11 1504 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 455 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) ACAGAGTATTGAAATTCTGAA 0.393000 19 49 0 0 1 0 0 STRA8 346673 broad.mit.edu 37 7 134925454 134925454 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr7:134925454C>T ENST00000275764.3 + 2 244 c.244C>T c.(244-246)Ctc>Ttc p.L82F NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 82 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 TCAGTCTGATCTCATAGCCTC 0.612000 17 57 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134107289 134107289 + Splice_Site SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr8:134107289G>C ENST00000220616.4 + 42 7281 c.7239_splice c.e42-1 p.G2414_splice TG_ENST00000542445.1_Splice_Site_p.G784_splice|TG_ENST00000377869.1_Splice_Site_p.G2357_splice|SLA_ENST00000517648.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Splice_Site_p.G547_splice|SLA_ENST00000518565.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2414 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTCTTCCAGGGAGGCTCCGCA 0.592000 30 131 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413262 139413262 + Nonsense_Mutation SNP C C A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:139413262C>A ENST00000277541.6 - 6 955 c.880G>T c.(880-882)Gag>Tag p.E294* NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 294 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TCCACATCCTCGGTACAGTAC 0.642000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 36 21 3.09479e-21 3.33178e-21 1 1 0 STRIP2 57464 broad.mit.edu 37 7 129093089 129093089 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr7:129093089C>T ENST00000249344.2 + 5 471 c.431C>T c.(430-432)tCa>tTa p.S144L STRIP2_ENST00000435494.2_Missense_Mutation_p.S144L NM_020704.2 NP_065755.1 striatin interacting protein 2 GAATGTGATTCAGAGGTCGAT 0.507000 27 58 0 0 1 0 0 INTS9 55756 broad.mit.edu 37 8 28707753 28707753 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr8:28707753C>T ENST00000416984.2 - 3 534 c.175G>A c.(175-177)Gat>Aat p.D59N INTS9_ENST00000521777.1_Missense_Mutation_p.D35N|INTS9_ENST00000521022.1_Missense_Mutation_p.D59N|INTS9_ENST00000397363.4_5'UTR NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 59 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GCATTTCCATCCTTCAGGGAC 0.398000 37 96 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43348459 43348459 + RNA SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:43348459C>T ENST00000344686.2 - 0 1892 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GAACTGAGTCCAGGGGTGGCA 0.667000 OREG0024479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 22 0 0 1 0 0 POP4 10775 broad.mit.edu 37 19 30101537 30101537 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:30101537G>A ENST00000585603.1 + 3 2584 c.282G>A c.(280-282)caG>caA p.Q94Q POP4_ENST00000392279.3_Intron|POP4_ENST00000221770.3_Intron|POP4_ENST00000591824.1_3'UTR O95707 RPP29_HUMAN processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 94 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease P activity|RNA binding breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) CAGAGCAGCAGAGGTAACCCG 0.582000 OREG0025393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 13 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153881969 153881969 + Missense_Mutation SNP A A G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:153881969A>G ENST00000511601.1 + 6 1011 c.823A>G c.(823-825)Ata>Gta p.I275V FHDC1_ENST00000260008.3_Missense_Mutation_p.I275V Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 275 FH2. actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) ATATACAGATATAACAGTTTT 0.308000 3 20 0 0 1 0 0 EIF6 3692 broad.mit.edu 37 20 33868521 33868521 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr20:33868521G>A ENST00000374450.3 - 4 569 c.305C>T c.(304-306)tCa>tTa p.S102L EIF6_ENST00000374436.3_Missense_Mutation_p.S102L|EIF6_ENST00000374443.3_Intron|EIF6_ENST00000462894.1_Intron NM_002212.3 NP_002203.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 102 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCCCAAGGCTGAGAGCCGCTC 0.592000 7 12 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971156 21971156 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:21971156C>G ENST00000579755.1 - 2 537 c.245G>C c.(244-246)cGc>cCc p.R82P CDKN2A_ENST00000530628.2_Missense_Mutation_p.R82P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A68P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A68P|CDKN2A_ENST00000479692.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R123P|CDKN2A_ENST00000304494.5_Missense_Mutation_p.A68P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.A17P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.A17P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A68P P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(45)|p.A68T(5)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.0(1)|p.L64_E69>Q(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TTGGGCTCCGCGCCGTGGAGC 0.706000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 12 0 0 1 0 0 NKX2-5 1482 broad.mit.edu 37 5 172659656 172659656 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr5:172659656G>A ENST00000329198.4 - 2 1164 c.891C>T c.(889-891)gtC>gtT p.V297V NM_001166175.1|NM_001166176.1|NM_004387.3 NP_001159647.1|NP_001159648.1|NP_004378.1 P52952 NKX25_HUMAN NK2 homeobox 5 297 adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1) 12 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCAAGTCCCCGACGCCGAAGT 0.667000 10 24 0 0 1 0 0 CCNY 219771 broad.mit.edu 37 10 35814905 35814905 + Missense_Mutation SNP A A T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr10:35814905A>T ENST00000374704.4 + 5 559 c.379A>T c.(379-381)Ata>Tta p.I127L CCNY_ENST00000265375.9_Missense_Mutation_p.I73L|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Missense_Mutation_p.I73L|CCNY_ENST00000339497.5_Missense_Mutation_p.I102L NM_145012.4 NP_659449.3 Q8ND76 CCNY_HUMAN cyclin Y 127 cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 CGCTCTTGCAATATATTATCA 0.348000 19 30 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 49 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26031895 26031895 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:26031895G>A ENST00000244661.2 - 1 393 c.394C>T c.(394-396)Cgc>Tgc p.R132C NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 132 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 CTTTCTCCGCGAATGCGGCGA 0.478000 17 43 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. 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 p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 56 0 0 1 0 0 GDPD3 79153 broad.mit.edu 37 16 30123725 30123725 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr16:30123725C>G ENST00000406256.3 - 5 762 c.385G>C c.(385-387)Gac>Cac p.D129H NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 129 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 ATGCGCCGGTCTGACCCGTGA 0.602000 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 62 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233802462 233802462 + Silent SNP C C T rs143943031 TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:233802462C>T ENST00000366621.3 + 2 645 c.477C>T c.(475-477)caC>caT p.H159H KCNK1_ENST00000366620.1_Silent_p.H43H|KCNK1_ENST00000472190.1_3'UTR NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 159 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TCACCGTGCACGTCACCCGCA 0.592000 13 38 0 0 1 0 0 PREPL 9581 broad.mit.edu 37 2 44548994 44548994 + Missense_Mutation SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:44548994T>C ENST00000541738.1 - 13 2185 c.1799A>G c.(1798-1800)aAt>aGt p.N600S PREPL_ENST00000409272.1_Missense_Mutation_p.N689S|PREPL_ENST00000378520.3_Missense_Mutation_p.N623S|PREPL_ENST00000260648.6_Missense_Mutation_p.N689S|PREPL_ENST00000410081.1_Missense_Mutation_p.N689S|PREPL_ENST00000409936.1_Missense_Mutation_p.N689S|PREPL_ENST00000409957.1_Missense_Mutation_p.N600S|PREPL_ENST00000409411.1_Missense_Mutation_p.N600S|PREPL_ENST00000378511.3_Missense_Mutation_p.N627S NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 689 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AATTACATGATTGCCTCCAGG 0.383000 12 34 0 0 1 0 0 C9orf172 389813 broad.mit.edu 37 9 139740915 139740915 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:139740915C>G ENST00000436881.1 + 1 2049 c.2049C>G c.(2047-2049)ttC>ttG p.F683L NM_001080482.2 NP_001073951.2 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 683 endometrium(2)|large_intestine(1)|lung(6) 9 GCCTCTACTTCAAGTCCTGCC 0.677000 32 56 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46307421 46307421 + Splice_Site SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr20:46307421G>T ENST00000359930.4 - 8 2043 c.1193_splice c.e8+1 p.R398_splice CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Splice_Site_p.R398_splice|SULF2_ENST00000361612.4_Splice_Site_p.R398_splice|SULF2_ENST00000467815.1_Splice_Site_p.R398_splice NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 398 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CGTCCTCACCGATTCACCGGC 0.622000 67 194 1.35621e-51 1.47334e-51 1 1 0 TRAV29DV5 28653 broad.mit.edu 37 14 22631651 22631651 + RNA SNP T T G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr14:22631651T>G ENST00000390458.3 + 0 354 CCATTAAGGATAAAAATGAAG 0.403000 OREG0022575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 18 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28840936 28840936 + Missense_Mutation SNP A A T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr13:28840936A>T ENST00000399613.1 + 9 959 c.896A>T c.(895-897)aAt>aTt p.N299I PAN3_ENST00000282391.5_Missense_Mutation_p.N187I|PAN3_ENST00000380958.3_Missense_Mutation_p.N499I Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 499 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) AAATCAAGTAATTTTGGATAT 0.403000 19 38 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109730882 109730882 + Silent SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:109730882G>C ENST00000369939.3 + 9 1308 c.1125G>C c.(1123-1125)gtG>gtC p.V375V KIAA1324_ENST00000529753.1_Silent_p.V288V|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 375 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CCTCTGGTGTGAAGACCCACT 0.537000 33 117 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86813226 86813226 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr15:86813226G>A ENST00000441037.2 + 13 1872 c.1777G>A c.(1777-1779)Ggt>Agt p.G593S AGBL1_ENST00000389298.3_Missense_Mutation_p.G324S|AGBL1_ENST00000421325.2_Missense_Mutation_p.G593S NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 593 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CAAAGTGAGCGGTATGCAGGC 0.498000 6 14 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50734082 50734082 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr18:50734082G>A ENST00000442544.2 + 11 2372 c.1756G>A c.(1756-1758)Gaa>Aaa p.E586K DCC_ENST00000581580.1_Missense_Mutation_p.E241K|DCC_ENST00000412726.1_Missense_Mutation_p.E434K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 586 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTATAAACTGGAAGGCCTGAA 0.378000 18 38 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112227669 112227669 + Missense_Mutation SNP C C A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:112227669C>A ENST00000546840.2 + 6 473 c.473C>A c.(472-474)tCc>tAc p.S158Y ALDH2_ENST00000261733.2_Silent_p.I161I|ALDH2_ENST00000416293.3_Silent_p.I114I GGAAAACCATCCCCATTGACG 0.522000 10 32 4.68919e-08 4.87268e-08 1 1 0 CAMKV 79012 broad.mit.edu 37 3 49899497 49899497 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:49899497C>T ENST00000477224.1 - 3 686 c.208G>A c.(208-210)Gag>Aag p.E70K CAMKV_ENST00000463537.1_Missense_Mutation_p.E70K|CAMKV_ENST00000296471.7_Missense_Mutation_p.E70K|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000488336.1_Missense_Mutation_p.E70K|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000466940.1_Missense_Mutation_p.E70K Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 70 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ATGCCTATCTCGTTCTTGGCA 0.597000 15 8 0 0 1 0 0 TOE1 114034 broad.mit.edu 37 1 45808314 45808314 + Splice_Site SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:45808314T>C ENST00000372090.5 + 6 1334 c.752_splice c.e6+1 p.C251_splice TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Splice_Site_p.C171_splice NM_025077.3 NP_079353.3 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 251 nuclear speck|nucleolus nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) CTTCCGGAAATGGTGAGGAAA 0.468000 47 138 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201437151 201437151 + Missense_Mutation SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:201437151G>T ENST00000357799.4 + 7 2180 c.2082G>T c.(2080-2082)caG>caT p.Q694H NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 694 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TGCAAAAGCAGATCACCAATA 0.363000 14 40 1.52009e-12 1.60045e-12 1 1 0 REG3A 5068 broad.mit.edu 37 2 79386510 79386510 + Missense_Mutation SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:79386510G>T ENST00000393878.1 - 1 276 c.22C>A c.(22-24)Ccc>Acc p.P8T REG3A_ENST00000409839.3_Missense_Mutation_p.P8T|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.P8T NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 8 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 GATACACTGGGCAGGGCCATG 0.532000 11 42 2.27111e-07 2.32959e-07 1 1 0 ZNF835 90485 broad.mit.edu 37 19 57175283 57175283 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:57175283G>A ENST00000537055.2 - 2 1515 c.1284C>T c.(1282-1284)agC>agT p.S428S NM_001005850.2 NP_001005850.2 zinc finger protein 835 p.S450R(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 AGGAGCCCTGGCTGAAAGCTT 0.672000 12 35 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161029180 161029180 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:161029180G>A ENST00000283249.2 - 6 1058 c.821C>T c.(820-822)tCt>tTt p.S274F ITGB6_ENST00000409872.1_Missense_Mutation_p.S274F|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.S232F|ITGB6_ENST00000409967.2_Missense_Mutation_p.S274F P18564 ITB6_HUMAN integrin, beta 6 274 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TCCAAAATGAGAATCAGCATC 0.453000 37 93 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141317106 141317106 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:141317106C>T ENST00000325617.5 - 10 1456 c.1016G>A c.(1015-1017)gGa>gAa p.G339E CLGN_ENST00000537281.1_Missense_Mutation_p.G339E|CLGN_ENST00000414773.1_Missense_Mutation_p.G339E NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 339 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) CTCCCATTCTCCATCCGTGTC 0.398000 13 41 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5922663 5922663 + Silent SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:5922663C>G ENST00000399933.3 - 8 3332 c.3333G>C c.(3331-3333)gtG>gtC p.V1111V KIAA2026_ENST00000381461.2_Silent_p.V1081V NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1111 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TATGCTGAATCACAAAATTCT 0.378000 20 52 0 0 1 0 0 MEX3C 51320 broad.mit.edu 37 18 48723007 48723007 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr18:48723007C>G ENST00000592416.1 - 1 122 c.123G>C c.(121-123)aaG>aaC p.K41N MEX3C_ENST00000591040.1_Intron Q5U5Q3 MEX3C_HUMAN mex-3 RNA binding family member C 228 cytoplasm|nucleus RNA binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1) 17 Colorectal(6;0.003)|all_epithelial(6;0.0473) Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15) TGTTGACGCTCTTTCTCCGGA 0.731000 4 7 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17796915 17796915 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:17796915C>T ENST00000378814.5 - 23 2926 c.2927G>A c.(2926-2928)aGa>aAa p.R976K KIF13A_ENST00000378843.2_Missense_Mutation_p.R976K|KIF13A_ENST00000259711.6_Missense_Mutation_p.R976K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R976K|KIF13A_ENST00000378816.5_Missense_Mutation_p.R976K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 976 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) ATGCAGTGTTCTTGTCTTAGC 0.498000 39 101 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879176 144879176 + Missense_Mutation SNP C C T rs145464352 TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:144879176C>T ENST00000369359.4 - 30 4720 c.4682G>A c.(4681-4683)gGg>gAg p.G1561E PDE4DIP_ENST00000369354.3_Missense_Mutation_p.G1425E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G1381E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G1561E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G1425E Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1425 NBPF. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTAGAAAGCCCCAGTGCCATC 0.552000 T PDGFRB MPD 7 89 0 0 1 0 0 MYL10 93408 broad.mit.edu 37 7 101266313 101266313 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr7:101266313C>T ENST00000223167.4 - 4 490 c.313G>A c.(313-315)Gac>Aac p.D105N NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 105 EF-hand 1. mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 TCCTCTTTGTCGATGAAGCCA 0.627000 11 39 0 0 1 0 0 INTS6-AS1 100507398 broad.mit.edu 37 13 52034950 52034950 + RNA SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr13:52034950G>A ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000593709.1_RNA CAAGACAGAAGAGAATTTCTC 0.408000 3 21 0 0 1 0 0 AWAT2 158835 broad.mit.edu 37 X 69264203 69264203 + Splice_Site SNP T T A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:69264203T>A ENST00000276101.3 - 2 200 c.196_splice c.e2+1 p.R65_splice NM_001002254.1 NP_001002254.1 Q6E213 AWAT2_HUMAN acyl-CoA wax alcohol acyltransferase 2 65 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity endometrium(3)|large_intestine(3)|lung(2)|ovary(1) 9 GATGCTTACCTCGCTGAGGGG 0.532000 16 6 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973715 46973715 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:46973715C>T ENST00000313683.10 - 2 883 c.578G>A c.(577-579)gGg>gAg p.G193E PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G193E NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 193 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CACCTTCCTCCCTGCTGCTAA 0.592000 21 82 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62294399 62294399 + Missense_Mutation SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:62294399T>C ENST00000378024.4 - 5 7764 c.7490A>G c.(7489-7491)aAt>aGt p.N2497S AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2497 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATCGGGGGCATTTACATCAAC 0.507000 53 122 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121097619 121097619 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:121097619C>T ENST00000273666.6 + 22 2576 c.2305C>T c.(2305-2307)Cgt>Tgt p.R769C STXBP5L_ENST00000492541.1_Missense_Mutation_p.R769C|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R745C|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R745C NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 769 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TTCTGGAAAACGTCTTTCTAG 0.463000 8 15 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95169470 95169470 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr10:95169470C>T ENST00000371501.4 - 6 582 c.460G>A c.(460-462)Gaa>Aaa p.E154K MYOF_ENST00000359263.4_Missense_Mutation_p.E154K|MYOF_ENST00000358334.5_Missense_Mutation_p.E154K|MYOF_ENST00000371502.4_Missense_Mutation_p.E154K|MYOF_ENST00000371489.1_Missense_Mutation_p.E154K Q9NZM1 MYOF_HUMAN myoferlin 154 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AACCTGTCTTCATCACCTTCA 0.517000 80 237 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 5 16 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51612982 51612982 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:51612982G>A ENST00000371117.3 - 58 9707 c.9432C>T c.(9430-9432)atC>atT p.I3144I PKHD1_ENST00000340994.4_Silent_p.I3144I NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3144 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) AGAAGCCAGAGATTCTGGTAC 0.433000 63 144 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36686199 36686199 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr13:36686199C>T ENST00000255448.4 - 3 741 c.530G>A c.(529-531)cGa>cAa p.R177Q DCLK1_ENST00000360631.3_Missense_Mutation_p.R177Q|DCLK1_ENST00000379892.4_Missense_Mutation_p.R177Q NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 177 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CTTATTCTCTCGCACCTCTGA 0.532000 29 69 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66112497 66112497 + Splice_Site SNP T T A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:66112497T>A ENST00000503581.1 - 7 1595 c.1056_splice c.e7-1 p.D353_splice EYS_ENST00000370616.2_Splice_Site_p.D353_splice|EYS_ENST00000370618.3_Splice_Site_p.D353_splice|EYS_ENST00000370621.3_Splice_Site_p.D353_splice|EYS_ENST00000342421.5_Splice_Site_p.D353_splice|EYS_ENST00000393380.2_Splice_Site_p.D353_splice NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 353 EGF-like 4. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 GCACATAACATCCTAGGAAAG 0.303000 10 22 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212118259 212118259 + Missense_Mutation SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:212118259T>C ENST00000366994.3 - 19 2572 c.2468A>G c.(2467-2469)aAt>aGt p.N823S INTS7_ENST00000366993.3_Missense_Mutation_p.N809S|INTS7_ENST00000366992.3_Missense_Mutation_p.N803S|INTS7_ENST00000440600.2_Missense_Mutation_p.N774S|INTS7_ENST00000469606.1_5'UTR NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 823 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) CTGCTGGTTATTCTGGACAGC 0.502000 18 40 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23523379 23523379 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr14:23523379C>T ENST00000397359.3 - 6 1202 c.943G>A c.(943-945)Ggt>Agt p.G315S CDH24_ENST00000487137.2_Missense_Mutation_p.G315S|CDH24_ENST00000267383.5_Missense_Mutation_p.G315S|CDH24_ENST00000554034.1_Missense_Mutation_p.G315S NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 315 Cadherin 3. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCGTCTCGACCCTGCAAGTCT 0.597000 42 93 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47863722 47863722 + Splice_Site SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr21:47863722G>C ENST00000359568.5 + 45 9807 c.e45-1 PCNT_ENST00000480896.1_Splice_Site NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TTCTGGGGAAGGGCCCCGAGC 0.507000 16 74 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187540475 187540475 + Missense_Mutation SNP A A T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:187540475A>T ENST00000441802.2 - 10 7474 c.7265T>A c.(7264-7266)aTa>aAa p.I2422K NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2422 Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAACTTGTCTATGTCTGAACT 0.448000 HNSCC(5;0.00058) 15 37 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31581693 31581693 + Missense_Mutation SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr14:31581693G>T ENST00000399332.1 - 35 6695 c.6207C>A c.(6205-6207)agC>agA p.S2069R HECTD1_ENST00000553700.1_Missense_Mutation_p.S2069R NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2069 K-box. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AAGGACATTTGCTGGTTAATT 0.388000 14 23 6.72482e-11 7.04927e-11 1 1 0 STX11 8676 broad.mit.edu 37 6 144508214 144508214 + Missense_Mutation SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:144508214G>T ENST00000367568.4 + 2 633 c.450G>T c.(448-450)gaG>gaT p.E150D NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 150 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) ACCAGGCCGAGATGAAGCAGC 0.637000 Familial Hemophagocytic Lymphohistiocytosis 15 32 1.15088e-07 1.1856e-07 1 1 0 ZNF91 7644 broad.mit.edu 37 19 23543545 23543545 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:23543545C>T ENST00000300619.7 - 4 2441 c.2236G>A c.(2236-2238)Gaa>Aaa p.E746K ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E714K NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 746 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTGCCACATTCTTCACACTTG 0.338000 8 24 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135187212 135187212 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:135187212C>G ENST00000372169.2 - 11 5488 c.5306G>C c.(5305-5307)aGa>aCa p.R1769T SETX_ENST00000224140.5_Missense_Mutation_p.R1769T|SETX_ENST00000393220.1_Missense_Mutation_p.R1769T Q7Z333 SETX_HUMAN senataxin 1769 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GAAATTCTCTCTATTTGGAGA 0.343000 14 18 0 0 1 0 0 FAM46A 55603 broad.mit.edu 37 6 82461310 82461310 + Silent SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:82461310G>C ENST00000369754.3 - 2 918 c.606C>G c.(604-606)ctC>ctG p.L202L FAM46A_ENST00000320172.6_Silent_p.L183L|FAM46A_ENST00000369756.3_Silent_p.L264L Q96IP4 FA46A_HUMAN family with sequence similarity 46, member A 183 endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) GTGTTACCTTGAGCGTGAGTG 0.577000 15 44 0 0 1 0 0 CDC37L1 55664 broad.mit.edu 37 9 4701900 4701900 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:4701900G>C ENST00000381854.3 + 6 986 c.784G>C c.(784-786)Gaa>Caa p.E262Q CDC37L1_ENST00000381858.1_Missense_Mutation_p.E262Q NM_017913.2 NP_060383.2 Q7L3B6 CD37L_HUMAN cell division cycle 37-like 1 262 Self-association and interaction with Hsp90. cytoplasm breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) ATTCAAAAATGAACTTGAAGC 0.333000 8 25 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. 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 p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 55 0 0 1 0 0 IPP 3652 broad.mit.edu 37 1 46206694 46206694 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:46206694G>C ENST00000396478.3 - 3 705 c.603C>G c.(601-603)ttC>ttG p.F201L NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 201 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TTGCAGCTAAGAAGACCTGGT 0.413000 19 56 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13251295 13251295 + Silent SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr10:13251295G>C ENST00000378714.3 + 20 2738 c.2610G>C c.(2608-2610)ctG>ctC p.L870L MCM10_ENST00000484800.2_Silent_p.L871L|MCM10_ENST00000378694.1_3'UTR NM_018518.4|NM_182751.2 NP_060988.3|NP_877428.1 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 871 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 CTAAATTTCTGAACAGCCTTA 0.398000 7 37 0 0 1 0 0 ABHD1 84696 broad.mit.edu 37 2 27351467 27351467 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:27351467G>C ENST00000316470.4 + 2 387 c.273G>C c.(271-273)caG>caC p.Q91H NM_032604.3 NP_115993.3 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 91 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTTTATCAGAGGTAAGAAG 0.468000 26 50 0 0 1 0 0 PDGFRL 5157 broad.mit.edu 37 8 17434770 17434770 + Silent SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr8:17434770C>G ENST00000541323.1 + 2 454 c.9C>G c.(7-9)gtC>gtG p.V3V PDGFRL_ENST00000251630.6_Silent_p.V3V|PDGFRL_ENST00000398074.3_Silent_p.V3V NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 3 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) AGATGAAGGTCTGGCTGCTGC 0.711000 OREG0018579 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 16 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44248549 44248549 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:44248549G>A ENST00000262419.6 - 2 1431 c.961C>T c.(961-963)Ctg>Ttg p.L321L KANSL1_ENST00000572904.1_Silent_p.L321L|KANSL1_ENST00000432791.1_Silent_p.L321L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.L321L|KANSL1_ENST00000574590.1_Silent_p.L321L NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 321 MLL1 complex protein binding AATCCACCCAGCTGATGTTGT 0.512000 20 72 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5784161 5784161 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr10:5784161C>T ENST00000328090.5 + 14 3054 c.2429C>T c.(2428-2430)tCt>tTt p.S810F RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 810 ATCATACGATCTTCCCGAAAG 0.408000 10 31 0 0 1 0 0 NKIRAS1 28512 broad.mit.edu 37 3 23942311 23942311 + Silent SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:23942311T>C ENST00000443659.2 - 3 1101 c.324A>G c.(322-324)aaA>aaG p.K108K NKIRAS1_ENST00000437230.1_Silent_p.K108K|NKIRAS1_ENST00000415901.2_Silent_p.K108K|NKIRAS1_ENST00000421515.2_Silent_p.K108K|NKIRAS1_ENST00000416026.2_Silent_p.K108K|NKIRAS1_ENST00000388759.3_Silent_p.K108K|NKIRAS1_ENST00000412028.1_Silent_p.K108K|NKIRAS1_ENST00000425478.2_Silent_p.K108K Q9NYS0 KBRS1_HUMAN NFKB inhibitor interacting Ras-like 1 108 I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 7 CTTTTTTGTCTTTGAACTTAT 0.323000 22 11 0 0 1 0 0 LRRC10 376132 broad.mit.edu 37 12 70004271 70004271 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:70004271C>G ENST00000361484.3 - 1 671 c.348G>C c.(346-348)gaG>gaC p.E116D NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 116 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GCAGGCTCAGCTCACTGGGGA 0.567000 18 55 0 0 1 0 0 CLDN5 7122 broad.mit.edu 37 22 19511491 19511491 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr22:19511491G>A ENST00000406028.1 - 2 1603 c.543C>T c.(541-543)ttC>ttT p.F181F CLDN5_ENST00000403084.1_Silent_p.F181F|CLDN5_ENST00000413119.2_Silent_p.F181F O00501 CLD5_HUMAN claudin 5 96 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity liver(1)|lung(2)|prostate(1) 4 Colorectal(54;0.0993) CCAGGGTCACGAAGAGCGCAA 0.711000 3 5 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35045669 35045669 + Missense_Mutation SNP C C A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:35045669C>A ENST00000312292.5 + 2 3090 c.3043C>A c.(3043-3045)Ccc>Acc p.P1015T C9orf131_ENST00000421362.2_Missense_Mutation_p.P967T|C9orf131_ENST00000354479.5_Missense_Mutation_p.P942T NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 1015 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) AGCTTCGGGTCCCCAGGATCA 0.577000 26 61 4.72057e-08 4.88406e-08 1 1 0 CBWD1 55871 broad.mit.edu 37 9 163990 163990 + Missense_Mutation SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:163990T>C ENST00000377447.3 - 5 533 c.478A>G c.(478-480)Att>Gtt p.I160V CBWD1_ENST00000356521.4_Missense_Mutation_p.I160V|CBWD1_ENST00000377400.4_Missense_Mutation_p.I160V|CBWD1_ENST00000382447.4_Missense_Mutation_p.I160V|CBWD1_ENST00000314367.10_Missense_Mutation_p.I124V|CBWD1_ENST00000431099.2_Missense_Mutation_p.I124V Q9BRT8 CBWD1_HUMAN COBW domain containing 1 160 ATP binding|protein binding kidney(1)|lung(2)|ovary(1)|skin(1) 5 all_lung(41;0.218) all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) TCAAGATAAATATCACTCCCT 0.313000 42 106 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32217648 32217648 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr20:32217648G>C ENST00000346541.3 + 9 1720 c.1183G>C c.(1183-1185)Gag>Cag p.E395Q CBFA2T2_ENST00000342704.5_Missense_Mutation_p.E386Q|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.E366Q|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.E395Q|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.E405Q NM_005093.3 NP_005084.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 395 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 TGAAAACACAGAGCTGAGGAA 0.522000 12 40 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15323347 15323347 + RNA SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr18:15323347T>C ENST00000455308.2 - 0 501 NR_027417.1 CCAATAAAAGTGGTGTGTGGC 0.303000 3 5 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875100 21875100 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:21875100G>A ENST00000429584.2 + 1 996 c.498G>A c.(496-498)acG>acA p.T166T MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 GCCTGGGCACGAGGAAGTGGG 0.587000 35 57 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22926026 22926026 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr15:22926026C>T ENST00000313077.7 + 3 293 c.168C>T c.(166-168)atC>atT p.I56I CYFIP1_ENST00000560848.1_Silent_p.I56I NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 56 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TTACTGGCATCGCAAGATACA 0.453000 19 48 0 0 1 0 0 SMURF1 57154 broad.mit.edu 37 7 98649936 98649936 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr7:98649936G>C ENST00000361125.1 - 7 932 c.613C>G c.(613-615)Caa>Gaa p.Q205E SMURF1_ENST00000361368.2_Missense_Mutation_p.Q205E|SMURF1_ENST00000480055.1_5'UTR NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 205 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) TGAAGTCTTTGATCTTGACTT 0.592000 27 68 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5787438 5787438 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:5787438C>G ENST00000339450.5 - 14 2631 c.2542G>C c.(2542-2544)Gaa>Caa p.E848Q ERMP1_ENST00000543230.1_3'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 848 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) ACCTGCACTTCTATCCAGAAC 0.473000 22 35 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35444093 35444093 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr20:35444093G>A ENST00000237536.4 - 5 2093 c.1752C>T c.(1750-1752)agC>agT p.S584S SOGA1_ENST00000456801.2_Silent_p.S187S|SOGA1_ENST00000357779.3_Silent_p.S346S|SOGA1_ENST00000279034.5_Silent_p.S346S NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 346 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 TGACCTTGCCGCTGAGCTCGC 0.637000 3 10 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25327844 25327844 + RNA SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr15:25327844C>T ENST00000546682.1 + 0 180 SNHG14_ENST00000549804.2_RNA NR_003361.1 TGGGCTTCTTCAGGTGCTGGT 0.483000 9 14 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90409883 90409883 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:90409883G>A ENST00000369393.3 - 57 8884 c.8769C>T c.(8767-8769)caC>caT p.H2923H MDN1_ENST00000428876.1_Silent_p.H2923H Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2923 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCTGGTGAGGTGGATTACGG 0.478000 17 52 0 0 1 0 0 ZNF670 93474 broad.mit.edu 37 1 247202158 247202158 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:247202158C>G ENST00000366503.2 - 3 303 c.145G>C c.(145-147)Gac>Cac p.D49H NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) ATATTCTGGTCTTCTGATTTG 0.343000 11 26 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191937885 191937885 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:191937885G>A ENST00000392320.2 - 5 718 c.404C>T c.(403-405)tCa>tTa p.S135L STAT4_ENST00000358470.4_Missense_Mutation_p.S135L NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 135 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TTCTGAAACTGAAGAACTTTG 0.388000 28 98 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76349813 76349813 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr5:76349813C>T ENST00000312916.7 + 10 1873 c.1491C>T c.(1489-1491)taC>taT p.Y497Y NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 497 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) GTGACCCTTACGTACTTGAGC 0.403000 24 51 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43127881 43127881 + Nonsense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr10:43127881G>A ENST00000359467.3 - 3 130 c.16C>T c.(16-18)Cag>Tag p.Q6* ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 6 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TGGAACTTCTGATCTACCTGA 0.418000 5 31 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455565 84455565 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr13:84455565C>G ENST00000377084.2 - 1 963 c.78G>C c.(76-78)gaG>gaC p.E26D NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 26 LRRNT. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AACAGATCTTCTCTTTGCAAA 0.478000 31 67 0 0 1 0 0 HOXD4 3233 broad.mit.edu 37 2 177017499 177017499 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:177017499G>C ENST00000306324.3 + 2 1009 c.597G>C c.(595-597)aaG>aaC p.K199N HOXD3_ENST00000468418.3_5'UTR NM_014621.2 NP_055436.2 P09016 HXD4_HUMAN homeobox D4 199 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) GCCAGATCAAGATCTGGTTCC 0.478000 14 61 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15323340 15323340 + RNA SNP A A G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr18:15323340A>G ENST00000455308.2 - 0 508 NR_027417.1 CTTATGGCCAATAAAAGTGGT 0.299000 3 5 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124335581 124335581 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:124335581C>T ENST00000409039.3 + 34 5920 c.5895C>T c.(5893-5895)atC>atT p.I1965I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1965 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGCAGCAGATCTGTGAGATCA 0.647000 8 38 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 79639112 79639112 + Splice_Site SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:79639112C>G ENST00000464233.1 - 2 64 c.e2-1 NM_002941.3 NP_002932.1 Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AATGTGTTATCTGGGGAGATT 0.333000 25 21 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796462 62796462 + RNA SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:62796462T>C ENST00000582986.1 - 0 1458 NR_024386.1 CATCTTCTCATTGTTCCTGAT 0.532000 5 15 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35580468 35580468 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:35580468G>C ENST00000353139.5 - 28 4010 c.3529C>G c.(3529-3531)Cac>Gac p.H1177D ACACA_ENST00000394406.2_Missense_Mutation_p.H1140D|ACACA_ENST00000360679.3_Missense_Mutation_p.H1082D|ACACA_ENST00000335166.5_Missense_Mutation_p.H1062D NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1140 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGGTTGCTGTGATAGAAGAAG 0.388000 22 72 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40854064 40854064 + Silent SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr18:40854064G>C ENST00000255224.3 - 2 698 c.330C>G c.(328-330)ctC>ctG p.L110L SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L92L NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 110 cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TGCCAGGTTTGAGGTTGGTTT 0.413000 18 62 0 0 1 0 0 RAD18 56852 broad.mit.edu 37 3 8944093 8944093 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:8944093G>C ENST00000264926.2 - 10 1255 c.1139C>G c.(1138-1140)tCt>tGt p.S380C NM_020165.3 NP_064550.3 Q9NS91 RAD18_HUMAN RAD18 homolog (S. cerevisiae) 380 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3) 15 OV - Ovarian serous cystadenocarcinoma(96;0.0552) CTTTTCTGTAGATTCATCTTC 0.299000 Rad6 pathway 28 23 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262180 140262180 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr5:140262180C>T ENST00000289272.2 + 1 327 c.327C>T c.(325-327)atC>atT p.I109I PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.I109I|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGGTGATCGTGGACAGGC 0.522000 60 123 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 3 15 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T rs67389650 TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:7577127C>T ENST00000420246.2 - 8 943 c.811G>A c.(811-813)Gag>Aag p.E271K TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000269305.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 271 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACGCACCTCAAAGCTGTTC 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 10 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6103627 6103627 + Silent SNP C C A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:6103627C>A ENST00000261405.5 - 36 6464 c.6210G>T c.(6208-6210)ctG>ctT p.L2070L NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2070 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GGCTGAGCTGCAGTTGGAACT 0.428000 38 85 2.24893e-16 2.38887e-16 1 1 0 ZFP2 80108 broad.mit.edu 37 5 178359177 178359177 + Missense_Mutation SNP A A G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr5:178359177A>G ENST00000361362.2 + 5 1393 c.863A>G c.(862-864)cAt>cGt p.H288R ZFP2_ENST00000520301.1_Missense_Mutation_p.H288R|ZFP2_ENST00000503510.2_Missense_Mutation_p.H288R|ZFP2_ENST00000523286.1_Missense_Mutation_p.H288R NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 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) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) CTTACCCTACATCAGCGAAAT 0.378000 19 69 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112471054 112471054 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:112471054C>G ENST00000261745.4 - 23 3027 c.2779G>C c.(2779-2781)Gac>Cac p.D927H NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 927 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 AGAGAAGTGTCTTCTAAAATA 0.378000 20 40 0 0 1 0 0 COMTD1 118881 broad.mit.edu 37 10 76995480 76995480 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr10:76995480C>T ENST00000372538.3 - 2 198 c.116G>A c.(115-117)cGa>cAa p.R39Q COMTD1_ENST00000460899.1_5'UTR NM_144589.2 NP_653190.2 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 1 39 integral to membrane O-methyltransferase activity central_nervous_system(1)|large_intestine(1)|lung(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) TCGCCGGCCTCGCCATGGGGG 0.721000 4 6 0 0 1 0 0 MYOT 9499 broad.mit.edu 37 5 137206631 137206631 + Silent SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr5:137206631C>G ENST00000239926.4 + 2 665 c.291C>G c.(289-291)ctC>ctG p.L97L RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Intron|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_5'UTR NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 97 Necessary for interaction with ACTN1. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CCAGCTTCCTCAGCTCCATAT 0.478000 11 45 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107824918 107824918 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:107824918G>A ENST00000317357.5 + 2 813 c.154G>A c.(154-156)Gaa>Aaa p.E52K NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 52 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) TGATAAGGTTGAATTAAAAGA 0.393000 24 51 0 0 1 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180948 142180948 + RNA SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr7:142180948C>G ENST00000390368.2 - 0 68 GGCCGATGCTCATGGCAGATG 0.567000 8 31 0 0 1 0 0 ZNF45 7596 broad.mit.edu 37 19 44419217 44419217 + Missense_Mutation SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:44419217T>C ENST00000269973.5 - 10 1461 c.371A>G c.(370-372)aAt>aGt p.N124S ZNF45_ENST00000589703.1_Missense_Mutation_p.N124S|RP11-15A1.2_ENST00000586247.1_RNA NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 124 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 TCTTTGAATATTTACCACAGA 0.403000 12 34 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113171109 113171109 + Silent SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:113171109C>G ENST00000401783.2 - 38 7107 c.6771G>C c.(6769-6771)ctG>ctC p.L2257L SVEP1_ENST00000374469.1_Silent_p.L2234L|SVEP1_ENST00000297826.5_Silent_p.L183L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2257 Sushi 14. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GAACACACATCAGAGGGGATT 0.483000 49 159 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9484911 9484911 + Silent SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:9484911G>C ENST00000281419.3 + 11 1345 c.1005G>C c.(1003-1005)ctG>ctC p.L335L ASAP2_ENST00000315273.4_Silent_p.L335L NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 335 PH. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 ATGGTTTTCTGACCATATCCC 0.408000 10 24 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71949087 71949087 + Splice_Site SNP C C A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:71949087C>A ENST00000298229.2 + 27 3758 c.3552_splice c.e27-1 p.A1185_splice INPPL1_ENST00000538751.1_Splice_Site_p.A943_splice|INPPL1_ENST00000541756.1_Splice_Site_p.A943_splice NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1185 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding p.A1185D(2) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TTTCCTTAGGCTCCGTGCCTG 0.657000 OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 13 1 1 1 1 0 VPS13A 23230 broad.mit.edu 37 9 79895113 79895113 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:79895113G>C ENST00000360280.3 + 27 3123 c.2863G>C c.(2863-2865)Gat>Cat p.D955H VPS13A_ENST00000376636.3_Missense_Mutation_p.D955H|VPS13A_ENST00000357409.5_Missense_Mutation_p.D955H|VPS13A_ENST00000376634.4_Missense_Mutation_p.D955H|VPS13A_ENST00000423463.2_3'UTR NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 955 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TACAACCCTGGATAACACAAT 0.303000 11 32 0 0 1 0 0 BSX 390259 broad.mit.edu 37 11 122848402 122848402 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:122848402G>A ENST00000343035.2 - 3 705 c.657C>T c.(655-657)gaC>gaT p.D219D NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 219 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CGTCTCCAATGTCCACCTCGT 0.736000 18 40 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982199 7982199 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:7982199C>T ENST00000328600.2 - 2 1121 c.960G>A c.(958-960)agG>agA p.R320R NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 320 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGTACCTCGCCCTCTCCTCCT 0.517000 26 62 0 0 1 0 0 HLA-V 352962 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 6 23 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91737898 91737898 + Silent SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr7:91737898T>C ENST00000359028.2 + 49 11874 c.11649T>C c.(11647-11649)taT>taC p.Y3883Y AKAP9_ENST00000358100.2_Silent_p.Y3829Y|AKAP9_ENST00000356239.3_Silent_p.Y3879Y Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3883 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TAACAGATTATATCACTCGGC 0.478000 T BRAF papillary thyroid 16 37 0 0 1 0 0 HN1L 90861 broad.mit.edu 37 16 1735475 1735475 + Missense_Mutation SNP T T G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr16:1735475T>G ENST00000248098.3 + 2 137 c.80T>G c.(79-81)cTt>cGt p.L27R HN1L_ENST00000569765.1_Missense_Mutation_p.L55R|HN1L_ENST00000562684.1_Missense_Mutation_p.L55R|HN1L_ENST00000569256.1_Intron|LA16c-431H6.6_ENST00000454337.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.L15R|HN1L_ENST00000382711.5_Missense_Mutation_p.L11R|HN1L_ENST00000561516.1_Missense_Mutation_p.L27R NM_144570.2 NP_653171.1 Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like 27 cytoplasm|nucleus endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 9 TCGAGCAATCTTTTTGGAAGT 0.473000 33 41 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10897294 10897294 + Missense_Mutation SNP A A T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:10897294A>T ENST00000314646.5 + 7 1068 c.904A>T c.(904-906)Agc>Tgc p.S302C DNM2_ENST00000408974.4_Missense_Mutation_p.S302C|DNM2_ENST00000359692.6_Missense_Mutation_p.S302C|DNM2_ENST00000355667.6_Missense_Mutation_p.S302C|DNM2_ENST00000389253.4_Missense_Mutation_p.S302C|DNM2_ENST00000585892.1_Missense_Mutation_p.S302C P50570 DYN2_HUMAN dynamin 2 302 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CAAACTACAGAGCCAGCTGCT 0.592000 """F, N, Splice, Mis, O""" ETP ALL 23 57 0 0 1 0 0 PITX2 5308 broad.mit.edu 37 4 111539828 111539828 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:111539828C>T ENST00000354925.2 - 7 2112 c.407G>A c.(406-408)cGt>cAt p.R136H PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000394595.3_Silent_p.S67S|PITX2_ENST00000306732.3_Missense_Mutation_p.R143H|PITX2_ENST00000394598.2_Missense_Mutation_p.R136H|PITX2_ENST00000355080.5_Missense_Mutation_p.R90H NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 136 R -> C (in RIEG1). determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) TTTGGCCCGACGATTCTTGAA 0.582000 19 81 0 0 1 0 0 RNF182 221687 broad.mit.edu 37 6 13977405 13977405 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:13977405G>C ENST00000488300.1 + 3 578 c.55G>C c.(55-57)Gag>Cag p.E19Q RNF182_ENST00000537388.1_Missense_Mutation_p.E19Q|RNF182_ENST00000537663.1_Missense_Mutation_p.E19Q|RNF182_ENST00000544682.1_Missense_Mutation_p.E19Q NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 19 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) TGATGAGCTGGAGTGCAAAAT 0.458000 26 82 0 0 1 0 0 RIC8B 55188 broad.mit.edu 37 12 107245283 107245283 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:107245283G>C ENST00000392837.4 + 7 1368 c.1217G>C c.(1216-1218)aGa>aCa p.R406T RIC8B_ENST00000392839.2_Missense_Mutation_p.R406T|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.R366T Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 406 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 TCAACTGTGAGAAATAAGCTG 0.443000 19 31 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728308 20728308 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:20728308C>T ENST00000427401.4 - 4 795 c.701G>A c.(700-702)tGt>tAt p.C234Y NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 234 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GGCTTTGCCACAGTCTTCACA 0.408000 4 13 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293465 145293465 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:145293465C>T ENST00000342960.5 + 1 95 c.60C>T c.(58-60)atC>atT p.I20I RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Silent_p.I20I NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 20 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTCTAGAAATCAACGAGACAT 0.527000 31 580 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144381701 144381701 + Splice_Site SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:144381701G>A ENST00000295095.6 + 12 1170 c.e12-1 NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TGTTTTCCCAGAAGAGAAGCT 0.453000 14 40 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237617746 237617746 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:237617746G>C ENST00000366574.2 + 15 1665 c.1348G>C c.(1348-1350)Gag>Cag p.E450Q RYR2_ENST00000542537.1_Missense_Mutation_p.E434Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E448Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 450 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) TTTGCCTATAGAGTCCGTAAG 0.448000 11 27 0 0 1 0 0 ACTG2 72 broad.mit.edu 37 2 74141917 74141917 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:74141917G>C ENST00000409624.1 + 8 1367 c.724G>C c.(724-726)Gag>Cag p.E242Q ACTG2_ENST00000345517.3_Missense_Mutation_p.E242Q|ACTG2_ENST00000409731.3_Missense_Mutation_p.E199Q P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 242 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 GAAGAGCTATGAGCTGCCAGA 0.537000 16 42 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110456955 110456955 + Missense_Mutation SNP A A C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:110456955A>C ENST00000260283.4 - 13 1684 c.1400T>G c.(1399-1401)aTa>aGa p.I467R ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I10R|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I431R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I431R|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I441R|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I441R|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I444R NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 467 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) AACAGTATTTATTTTCTCTTC 0.264000 18 26 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134232846 134232846 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr8:134232846C>T ENST00000250160.6 + 3 478 c.372C>T c.(370-372)gtC>gtT p.V124V WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 124 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TGGGCTGCGTCCTGGATGGGG 0.642000 20 106 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109937499 109937499 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:109937499C>T ENST00000342494.3 + 12 1597 c.1002C>T c.(1000-1002)ttC>ttT p.F334F UBE3B_ENST00000280774.5_Silent_p.F334F|UBE3B_ENST00000434735.2_Silent_p.F334F NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 334 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CAGATGGGTTCGTGAGTTTGC 0.557000 6 16 0 0 1 0 0 TMPPE 643853 broad.mit.edu 37 3 33134654 33134654 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:33134654G>A ENST00000342462.4 - 2 1224 c.1034C>T c.(1033-1035)tCt>tTt p.S345F GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.S208F|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron NM_001039770.2 NP_001034859.2 Q6ZT21 TMPPE_HUMAN transmembrane protein with metallophosphoesterase domain 345 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 GCCATGGCCAGAGTAGTGCAG 0.592000 73 45 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35715165 35715165 + Missense_Mutation SNP T T G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:35715165T>G ENST00000314888.9 - 21 2998 c.2645A>C c.(2644-2646)gAc>gCc p.D882A TLN1_ENST00000540444.1_Missense_Mutation_p.D882A NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 882 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTCCTCACTGTCAGGGTGGGC 0.597000 14 36 0 0 1 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520755 62520755 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:62520755C>T ENST00000394807.3 - 2 657 c.532G>A c.(532-534)Gac>Aac p.D178N NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 TTGGTACTGTCTGCCTCTGCC 0.552000 33 103 0 0 1 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273377 145273377 + Silent SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:145273377G>C ENST00000369340.3 + 4 675 c.231G>C c.(229-231)ctG>ctC p.L77L RP11-458D21.5_ENST00000468030.1_Silent_p.L77L|NOTCH2NL_ENST00000344859.3_Silent_p.L77L|NOTCH2NL_ENST00000362074.6_Silent_p.L77L Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 77 EGF-like 3. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 GACCTTGCCTGAATGGCGGCA 0.532000 29 351 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44832582 44832582 + Missense_Mutation SNP T T A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:44832582T>A ENST00000354340.4 - 4 1779 c.1728A>T c.(1726-1728)aaA>aaT p.K576N ZNF112_ENST00000536500.1_Missense_Mutation_p.K599N|ZNF112_ENST00000337401.4_Missense_Mutation_p.K582N NM_013380.3 NP_037512.3 zinc finger protein 112 ATTCCTCACATTTATAAGGTT 0.438000 48 95 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530351 80530351 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:80530351C>G ENST00000295057.3 - 2 1250 c.594G>C c.(592-594)aaG>aaC p.K198N CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.K198N|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 198 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GCGCCAGACTCTTGAGCTGAT 0.587000 HNSCC(69;0.2) 33 81 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161113252 161113252 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr5:161113252G>A ENST00000523217.1 + 2 297 c.55G>A c.(55-57)Ggg>Agg p.G19R GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Missense_Mutation_p.G19R NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 19 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 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) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAATGCCCTAGGGAAACTCGA 0.473000 TCGA Ovarian(5;0.080) 15 32 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40453425 40453425 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:40453425C>T ENST00000345506.4 + 10 1764 c.1122C>T c.(1120-1122)atC>atT p.I374I STAT5A_ENST00000452307.2_Silent_p.I374I|STAT5A_ENST00000546010.2_Silent_p.I344I|STAT5A_ENST00000590949.1_Silent_p.I374I|STAT5A_ENST00000588868.1_Silent_p.I374I NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 374 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CCACCATCATCAGTGAGCAGC 0.577000 28 56 0 0 1 0 0 DCPS 28960 broad.mit.edu 37 11 126215347 126215347 + Missense_Mutation SNP T T A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:126215347T>A ENST00000263579.4 + 6 1182 c.853T>A c.(853-855)Ttc>Atc p.F285I DCPS_ENST00000530860.1_3'UTR NM_014026.3 NP_054745.1 Q96C86 DCPS_HUMAN decapping enzyme, scavenger 285 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) CGCCCTGGGCTTCGAGGCCCC 0.632000 26 76 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15323336 15323336 + RNA SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr18:15323336G>A ENST00000455308.2 - 0 512 NR_027417.1 TTTCCTTATGGCCAATAAAAG 0.289000 3 6 0 0 1 0 0 SMYD4 114826 broad.mit.edu 37 17 1703375 1703375 + Missense_Mutation SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:1703375T>C ENST00000305513.7 - 5 1480 c.1313A>G c.(1312-1314)gAg>gGg p.E438G NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 438 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 GAATTTGTGCTCTGGGCTATG 0.453000 22 69 0 0 1 0 0 CSNK1G2 1455 broad.mit.edu 37 19 1979345 1979345 + Missense_Mutation SNP A A C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:1979345A>C ENST00000255641.8 + 8 1291 c.796A>C c.(796-798)Aag>Cag p.K266Q NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 266 Protein kinase. sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGTACCAGAAGATCGGGGA 0.716000 3 10 0 0 1 0 0 DUSP26 78986 broad.mit.edu 37 8 33451109 33451109 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr8:33451109C>T ENST00000256261.4 - 3 895 c.378G>A c.(376-378)atG>atA p.M126I DUSP26_ENST00000523956.1_Missense_Mutation_p.M126I NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 126 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) AGTGGATGCTCATGTCAAAGG 0.647000 23 49 0 0 1 0 0 SLC25A42 284439 broad.mit.edu 37 19 19217186 19217186 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:19217186G>A ENST00000318596.7 + 6 640 c.489G>A c.(487-489)ccG>ccA p.P163P SLC25A42_ENST00000600275.1_3'UTR NM_178526.4 NP_848621.2 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 163 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) CCGTAACCCCGAAGGAAATGT 0.657000 17 40 0 0 1 0 0 CACNB3 784 broad.mit.edu 37 12 49220822 49220822 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:49220822C>T ENST00000301050.2 + 12 1255 c.1056C>T c.(1054-1056)taC>taT p.Y352Y CACNB3_ENST00000547392.1_Silent_p.Y325Y|CACNB3_ENST00000547230.1_Silent_p.Y311Y|CACNB3_ENST00000540990.1_Silent_p.Y339Y|CACNB3_ENST00000536187.2_Silent_p.Y351Y NM_000725.3 NP_000716.2 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 subunit 352 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) TGGCTGAGTACCTGGAGGTTT 0.607000 51 135 0 0 1 0 0 UTP14A 10813 broad.mit.edu 37 X 129059987 129059987 + Missense_Mutation SNP A A T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:129059987A>T ENST00000394422.3 + 13 1870 c.1842A>T c.(1840-1842)gaA>gaT p.E614D UTP14A_ENST00000371051.5_Missense_Mutation_p.E560D|UTP14A_ENST00000425117.2_Missense_Mutation_p.E562D|UTP14A_ENST00000371042.3_Missense_Mutation_p.E446D|RP4-537K23.4_ENST00000432062.1_RNA NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 614 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 AGAAGAGGGAAGCTGTGGAGG 0.527000 OREG0019920 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 8 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173232894 173232894 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:173232894G>A ENST00000506823.1 + 4 1034 c.377G>A c.(376-378)cGt>cAt p.R126H GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.R109H NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 126 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 CCAGATATTCGTCATGCTAAG 0.373000 41 128 0 0 1 0 0 FAM96A 84191 broad.mit.edu 37 15 64380932 64380932 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr15:64380932G>A ENST00000557835.1 - 2 269 c.243C>T c.(241-243)atC>atT p.I81I FAM96A_ENST00000300030.3_Silent_p.I81I|FAM96A_ENST00000380290.3_Silent_p.I81I|FAM96A_ENST00000559950.1_Silent_p.I81I Q9H5X1 FA96A_HUMAN family with sequence similarity 96, member A 81 chromosome segregation kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 GCGTGAACCTGATAATAACCA 0.373000 4 18 0 0 1 0 0 MLYCD 23417 broad.mit.edu 37 16 83948911 83948911 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr16:83948911C>G ENST00000262430.4 + 5 1318 c.1299C>G c.(1297-1299)atC>atG p.I433M RP11-505K9.4_ENST00000561562.1_RNA NM_012213.2 NP_036345.2 O95822 DCMC_HUMAN malonyl-CoA decarboxylase 433 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 TGTGGCGCATCAACTGGATGG 0.647000 34 98 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26915839 26915839 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr5:26915839G>A ENST00000231021.4 - 3 594 c.422C>T c.(421-423)cCg>cTg p.P141L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 141 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTCCGATTCCGGTTCCACCTG 0.398000 33 77 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113238804 113238804 + Missense_Mutation SNP A A T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:113238804A>T ENST00000369644.1 + 13 2675 c.1646A>T c.(1645-1647)tAt>tTt p.Y549F MOV10_ENST00000413052.2_Missense_Mutation_p.Y605F|MOV10_ENST00000369645.1_Missense_Mutation_p.Y605F|MOV10_ENST00000357443.2_Missense_Mutation_p.Y605F|MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 605 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) AAGGGGGAGTATGTATTTCCC 0.547000 8 25 0 0 1 0 0 B2M 567 broad.mit.edu 37 15 45007745 45007745 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr15:45007745G>C ENST00000558401.1 + 2 262 c.192G>C c.(190-192)gaG>gaC p.E64D B2M_ENST00000559916.1_Missense_Mutation_p.E64D|B2M_ENST00000544417.1_Missense_Mutation_p.E64D|B2M_ENST00000559220.1_Intron NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 64 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.K61_L74del(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) AGAATGGAGAGAGAATTGAAA 0.413000 20 57 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:153249385G>C ENST00000281708.4 - 9 2622 c.1393C>G c.(1393-1395)Cgt>Ggt p.R465G FBXW7_ENST00000263981.5_Missense_Mutation_p.R385G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 465 R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGCATACAACGCACAGTGGAA 0.413000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 24 100 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91260237 91260237 + Missense_Mutation SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:91260237T>C ENST00000369329.3 - 9 1060 c.899A>G c.(898-900)tAt>tGt p.Y300C MAP3K7_ENST00000369325.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.Y300C NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 300 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CTGACAAGGATACTGTAATGG 0.333000 3 16 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26213017 26213017 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:26213017C>T ENST00000379034.1 + 2 1203 c.1054C>T c.(1054-1056)Cct>Tct p.P352S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 352 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CAACAGTGATCCTCCATGCTA 0.512000 64 21 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 33684434 33684434 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr14:33684434C>T ENST00000346562.2 + 2 171 c.97C>T c.(97-99)Cgc>Tgc p.R33C NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.R33C|NPAS3_ENST00000551492.1_Missense_Mutation_p.R70C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R33C|NPAS3_ENST00000341321.4_Missense_Mutation_p.R63C|NPAS3_ENST00000356141.4_Missense_Mutation_p.R63C|NPAS3_ENST00000547068.1_5'UTR NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TGCTCGCTCCCGCCGGGGAAA 0.458000 12 41 0 0 1 0 0 SAP30BP 29115 broad.mit.edu 37 17 73664664 73664664 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:73664664G>C ENST00000584667.1 + 2 432 c.175G>C c.(175-177)Gat>Cat p.D59H SAP30BP_ENST00000355423.3_Missense_Mutation_p.D59H|SAP30BP_ENST00000579864.1_3'UTR NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 59 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGGTGATGAAGATGGTTATGA 0.408000 18 40 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936814 4936814 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:4936814C>T ENST00000322013.3 - 1 108 c.80G>A c.(79-81)cGc>cAc p.R27H MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GATGTGCATGCGCTCCAGCCC 0.527000 18 56 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5410702 5410702 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr7:5410702G>C ENST00000399537.4 - 11 3871 c.3523C>G c.(3523-3525)Ctg>Gtg p.L1175V TNRC18_ENST00000430969.1_Missense_Mutation_p.L1175V O15417 TNC18_HUMAN trinucleotide repeat containing 18 1175 Pro-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGCGACTCCAGAGGCGGCAGC 0.711000 14 54 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31601231 31601231 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:31601231G>A ENST00000376033.2 + 17 4629 c.4395G>A c.(4393-4395)ctG>ctA p.L1465L PRRC2A_ENST00000376007.4_Silent_p.L1465L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1465 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TCTTCCGCCTGGACCAAGTTA 0.612000 18 54 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3528031 3528031 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr20:3528031G>A ENST00000262919.5 + 5 906 c.838G>A c.(838-840)Gaa>Aaa p.E280K ATRN_ENST00000446916.2_Missense_Mutation_p.E280K NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 280 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGGAAAGGTGAAGCATGTGA 0.438000 13 56 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530608 80530608 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:80530608G>A ENST00000295057.3 - 2 993 c.337C>T c.(337-339)Cgc>Tgc p.R113C CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R113C|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 113 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 TTAACTCGGCGCAGTTTCTGA 0.597000 HNSCC(69;0.2) 5 140 0 0 1 0 0 EYA3 2140 broad.mit.edu 37 1 28354392 28354392 + Missense_Mutation SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:28354392G>T ENST00000373871.3 - 7 647 c.407C>A c.(406-408)aCt>aAt p.T136N EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.T10N|EYA3_ENST00000373863.3_Intron|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000545175.1_Missense_Mutation_p.T83N|EYA3_ENST00000540618.1_Intron Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 136 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) TGGAGATGGAGTCTGAATTAA 0.433000 31 70 1.99505e-19 2.13819e-19 1 1 0 BMP2K 55589 broad.mit.edu 37 4 79792085 79792085 + Missense_Mutation SNP G G C rs71828885 TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:79792085G>C ENST00000335016.5 + 11 1546 c.1380G>C c.(1378-1380)caG>caC p.Q460H BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 460 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity p.Q460H(3) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 ATCCTCACcagcagcagcagc 0.577000 4 44 0 0 1 0 0 ELP3 55140 broad.mit.edu 37 8 27995295 27995295 + Silent SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr8:27995295T>C ENST00000256398.8 + 10 1364 c.987T>C c.(985-987)taT>taC p.Y329Y ELP3_ENST00000521015.1_Silent_p.Y315Y|ELP3_ENST00000537665.1_Silent_p.Y210Y|ELP3_ENST00000542181.1_Silent_p.Y200Y|ELP3_ENST00000380353.4_Silent_p.Y237Y|ELP3_ENST00000524103.1_Silent_p.Y257Y NM_018091.5 NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 329 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) CCGGGCTTTATGAGCTTTGGA 0.488000 17 28 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65271665 65271665 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr14:65271665C>G ENST00000389722.3 - 2 345 c.292G>C c.(292-294)Gag>Cag p.E98Q SPTB_ENST00000556626.1_Missense_Mutation_p.E98Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E98Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E98Q|SPTB_ENST00000389721.5_Missense_Mutation_p.E98Q NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 98 Actin-binding.|CH 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ACCAGCATCTCTCCAGAGAGC 0.607000 48 92 0 0 1 0 0 KRT86 3892 broad.mit.edu 37 12 52695816 52695816 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:52695816G>A ENST00000293525.5 + 1 168 c.116G>A c.(115-117)cGc>cAc p.R39H KRT86_ENST00000544024.1_Missense_Mutation_p.R39H|KRT86_ENST00000423955.2_Missense_Mutation_p.R39H NM_002284.3 NP_002275.1 O43790 KRT86_HUMAN keratin 86 39 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) TCCTGCTACCGCGGCCTCACC 0.746000 14 38 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51497226 51497226 + Silent SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:51497226C>G ENST00000335891.5 - 4 288 c.279G>C c.(277-279)gtG>gtC p.V93V Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 93 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) GGCTTGTCATCACATATGCAT 0.398000 8 11 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 3 30 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39504133 39504133 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr7:39504133G>C ENST00000518318.2 + 10 1858 c.1816G>C c.(1816-1818)Gag>Cag p.E606Q POU6F2_ENST00000559001.1_Missense_Mutation_p.E587Q|POU6F2_ENST00000403058.1_Missense_Mutation_p.E642Q P78424 PO6F2_HUMAN POU class 6 homeobox 2 642 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CGAAATTGCTGAGAAGCTGAA 0.502000 14 27 0 0 1 0 0 PNPLA4 8228 broad.mit.edu 37 X 7870135 7870135 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:7870135G>A ENST00000381042.4 - 6 695 c.525C>T c.(523-525)gtC>gtT p.V175V PNPLA4_ENST00000537427.1_Silent_p.V88V|PNPLA4_ENST00000444736.1_Silent_p.V175V NM_004650.2 NP_004641.1 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 175 Patatin. lipid catabolic process triglyceride lipase activity kidney(1)|large_intestine(3)|lung(2)|prostate(1) 7 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) CTGTCCGGCCGACGGGCAGGA 0.547000 18 33 0 0 1 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253775 32253775 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr21:32253775C>T ENST00000332378.4 - 1 99 c.69G>A c.(67-69)gtG>gtA p.V23V NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 23 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 TAACTTGGGCCACTGGAACAA 0.557000 24 68 0 0 1 0 0 WDR5B 54554 broad.mit.edu 37 3 122133836 122133836 + Silent SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:122133836G>T ENST00000330689.4 - 1 1046 c.540C>A c.(538-540)tcC>tcA p.S180S NM_019069.3 NP_061942.2 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B 180 kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.0704) ACACTATCAAGGACCCACTAC 0.433000 24 67 3.28513e-13 3.47409e-13 1 1 0 SYNPO2L 79933 broad.mit.edu 37 10 75407449 75407449 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr10:75407449G>A ENST00000394810.2 - 4 2110 c.1961C>T c.(1960-1962)tCg>tTg p.S654L SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.S430L NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 654 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) CTGTACCAGCGATAGCAGCTC 0.627000 37 145 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580247 35580247 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:35580247G>A ENST00000373330.1 + 11 2990 c.2816G>A c.(2815-2817)aGa>aAa p.R939K ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R939K Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 939 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAGAAAAGAAGAAAAATTCAG 0.284000 3 14 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 3 61 1 1 1 1 0 CEP104 9731 broad.mit.edu 37 1 3753141 3753141 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:3753141C>T ENST00000378230.3 - 10 1559 c.1235G>A c.(1234-1236)gGc>gAc p.G412D CEP104_ENST00000460038.1_Intron NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 412 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 CCCTAACATGCCTCCCCTCCG 0.507000 30 73 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182346359 182346359 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:182346359G>A ENST00000397033.2 + 7 1219 c.789G>A c.(787-789)caG>caA p.Q263Q NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 263 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TTCGGAGCCAGCATACTACCG 0.373000 3 16 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45750164 45750164 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr7:45750164C>T ENST00000297323.7 + 19 2992 c.2970C>T c.(2968-2970)ggC>ggT p.G990G NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 990 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GAGTGATTGGCGCTCGCAGGC 0.577000 45 63 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30729875 30729875 + Splice_Site SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:30729875G>A ENST00000295754.5 + 6 1778 c.e6-1 TGFBR2_ENST00000359013.4_Splice_Site NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 TTTCTTCACAGAAGTAAAAGA 0.512000 37 32 0 0 1 0 0 NF2 4771 broad.mit.edu 37 22 30077427 30077427 + Splice_Site SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr22:30077427G>A ENST00000338641.4 + 15 2015 c.e15-1 NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000347330.5_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000413209.2_Intron NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(6) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 CTTGCCGGCAGAGTGGAATAC 0.537000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 68 47 0 0 1 0 0 TRAPPC2 6399 broad.mit.edu 37 X 13734173 13734173 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:13734173C>T ENST00000453655.2 - 5 566 c.295G>A c.(295-297)Gaa>Aaa p.E99K TRAPPC2_ENST00000358231.5_Missense_Mutation_p.E92K|TRAPPC2_ENST00000458511.2_Missense_Mutation_p.E126K|TRAPPC2_ENST00000359680.5_Missense_Mutation_p.E92K|TRAPPC2_ENST00000380579.1_Missense_Mutation_p.E92K|TRAPPC2_ENST00000519885.1_Missense_Mutation_p.E92K NM_001011658.3|NM_001128835.2 NP_001011658.1|NP_001122307.2 Q6IBE5 Q6IBE5_HUMAN trafficking protein particle complex 2 92 ER to Golgi vesicle-mediated transport intracellular kidney(1) 1 ATTCCATCTTCTTGTCTTATG 0.279000 4 11 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118949908 118949908 + Missense_Mutation SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:118949908G>T ENST00000328252.3 + 2 1260 c.891G>T c.(889-891)tgG>tgT p.W297C NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 297 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AGCATGCCTGGTCCCCCATGA 0.577000 23 73 3.10358e-05 3.14303e-05 1 1 0 MAGEA12 4111 broad.mit.edu 37 X 151899861 151899861 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:151899861C>G ENST00000393900.3 - 3 1293 c.940G>C c.(940-942)Gag>Cag p.E314Q MAGEA12_ENST00000357916.4_Missense_Mutation_p.E314Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.E314Q NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 314 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CAGACTCACTCTTCCCCCTCT 0.552000 50 100 0 0 1 0 0 NACC1 112939 broad.mit.edu 37 19 13246121 13246121 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr19:13246121G>C ENST00000292431.4 + 2 226 c.100G>C c.(100-102)Gtg>Ctg p.V34L NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 34 BTB. negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 TGACGTGTCAGTGGTGGTCAA 0.617000 14 71 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30723310 30723310 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:30723310G>A ENST00000361762.2 + 1 1274 c.266G>A c.(265-267)cGg>cAg p.R89Q PCDH7_ENST00000543491.1_Missense_Mutation_p.R89Q NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 89 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 ACGAGCGAGCGGCGCATCGAC 0.617000 4 27 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113308070 113308070 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr8:113308070G>A ENST00000297405.5 - 54 8850 c.8606C>T c.(8605-8607)tCc>tTc p.S2869F CSMD3_ENST00000343508.3_Missense_Mutation_p.S2829F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2799F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2700F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2869 Sushi 18. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACGCACACAGGATGGGAGCTG 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 33 0 0 1 0 0 B3GAT3 26229 broad.mit.edu 37 11 62384631 62384631 + Missense_Mutation SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:62384631T>C ENST00000531383.1 - 3 652 c.446A>G c.(445-447)gAg>gGg p.E149G B3GAT3_ENST00000534026.1_Missense_Mutation_p.E149G|B3GAT3_ENST00000265471.5_Missense_Mutation_p.E149G O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 149 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 CCAGCCAGGCTCGCCCTCCCG 0.692000 18 32 0 0 1 0 0 DTNB 1838 broad.mit.edu 37 2 25819047 25819047 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:25819047G>C ENST00000406818.3 - 6 760 c.511C>G c.(511-513)Ctg>Gtg p.L171V DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407661.3_Missense_Mutation_p.L171V|DTNB_ENST00000407038.3_Missense_Mutation_p.L171V|DTNB_ENST00000407186.1_Missense_Mutation_p.L171V|DTNB_ENST00000405222.1_Missense_Mutation_p.L171V|DTNB_ENST00000545439.1_Intron|DTNB_ENST00000496972.2_Missense_Mutation_p.L114V|DTNB_ENST00000404103.3_Missense_Mutation_p.L171V|DTNB_ENST00000288642.8_Missense_Mutation_p.L171V NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 171 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTTCCTTCAGAAACTGGTCA 0.423000 16 29 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130272455 130272455 + Silent SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:130272455G>A ENST00000373312.3 - 9 1344 c.1131C>T c.(1129-1131)atC>atT p.I377I FAM129B_ENST00000373314.3_Silent_p.I364I|FAM129B_ENST00000468379.1_Intron NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 377 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CGCCCTCGTTGATGACGTTCA 0.632000 61 90 0 0 1 0 0 HORMAD1 84072 broad.mit.edu 37 1 150676644 150676644 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:150676644C>T ENST00000368993.2 - 12 1003 c.898G>A c.(898-900)Gaa>Aaa p.E300K HORMAD1_ENST00000368995.4_Missense_Mutation_p.E220K|HORMAD1_ENST00000322343.7_Missense_Mutation_p.E293K|HORMAD1_ENST00000361824.2_Missense_Mutation_p.E300K Q86X24 HORM1_HUMAN HORMA domain containing 1 300 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) CTCATAATTTCATCTTCCTCA 0.303000 4 5 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8131545 8131545 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:8131545C>G ENST00000315684.8 - 23 3614 c.3607G>C c.(3607-3609)Gag>Cag p.E1203Q NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 1203 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 TACTCTGACTCTCGGATAGAA 0.547000 14 29 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 591898 591898 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:591898G>C ENST00000381578.1 + 2 957 c.266G>C c.(265-267)aGa>aCa p.R89T SHOX_ENST00000334060.3_Missense_Mutation_p.R89T|SHOX_ENST00000554971.1_Missense_Mutation_p.R89T|SHOX_ENST00000381575.1_Missense_Mutation_p.R89T NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 89 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 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) GGCACCGCGAGAGTGGCAGAA 0.652000 29 70 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114352855 114352855 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:114352855G>A ENST00000545145.2 - 21 2555 c.2477C>T c.(2476-2478)cCc>cTc p.P826L RBM19_ENST00000392561.3_Missense_Mutation_p.P826L|RBM19_ENST00000261741.5_Missense_Mutation_p.P826L NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 826 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) CTGCTTTCTGGGAACTTGTTT 0.572000 30 93 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43412147 43412147 + Missense_Mutation SNP C C A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr21:43412147C>A ENST00000310826.5 - 3 2241 c.2058G>T c.(2056-2058)aaG>aaT p.K686N ZBTB21_ENST00000398499.1_Missense_Mutation_p.K686N|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.K686N|ZBTB21_ENST00000398505.3_Intron NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 TTATATGCTGCTTAAATTGAG 0.418000 35 110 9.04072e-19 9.64612e-19 1 1 0 ZBTB3 79842 broad.mit.edu 37 11 62521034 62521034 + Missense_Mutation SNP A A G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr11:62521034A>G ENST00000394807.3 - 2 378 c.253T>C c.(253-255)Ttc>Ctc p.F85L NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 85 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 TGGGCCAAGAACTGGGTACTA 0.572000 11 24 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89053960 89053960 + Missense_Mutation SNP T T C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr8:89053960T>C ENST00000286614.6 - 10 1834 c.1553A>G c.(1552-1554)gAa>gGa p.E518G NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 518 Hemopexin-like 4. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 ATATCCAGGTTCTACCTTGAG 0.423000 10 53 0 0 1 0 0 DNAJC28 54943 broad.mit.edu 37 21 34861415 34861415 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr21:34861415C>G ENST00000314399.3 - 2 724 c.286G>C c.(286-288)Gaa>Caa p.E96Q DNAJC28_ENST00000381947.3_Missense_Mutation_p.E96Q|DNAJC28_ENST00000402202.1_Missense_Mutation_p.E96Q NM_017833.3 NP_060303.2 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 96 J. heat shock protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 TAAGCTTTTTCAATCCTTATA 0.368000 16 52 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40916382 40916382 + Missense_Mutation SNP A A T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr15:40916382A>T ENST00000346991.5 + 11 4388 c.3998A>T c.(3997-3999)aAt>aTt p.N1333I CASC5_ENST00000399668.2_Missense_Mutation_p.N1307I Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1333 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TGTTTACCAAATGTTATTTCC 0.363000 22 60 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51612983 51612983 + Missense_Mutation SNP A A G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:51612983A>G ENST00000371117.3 - 58 9706 c.9431T>C c.(9430-9432)aTc>aCc p.I3144T PKHD1_ENST00000340994.4_Missense_Mutation_p.I3144T NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3144 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) GAAGCCAGAGATTCTGGTACA 0.428000 63 143 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6525470 6525470 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr10:6525470G>C ENST00000263125.5 - 11 1210 c.1111C>G c.(1111-1113)Ctg>Gtg p.L371V PRKCQ_ENST00000397176.2_Missense_Mutation_p.L371V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.L246V NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 371 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 TTAATCTGCAGAGATGGTCTT 0.433000 28 77 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187535448 187535448 + Missense_Mutation SNP G G C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:187535448G>C ENST00000441802.2 - 12 9335 c.9126C>G c.(9124-9126)atC>atG p.I3042M NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3042 Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGATCTGCATGATCAATTTTC 0.388000 HNSCC(5;0.00058) 13 41 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587808 179587808 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr2:179587808C>T ENST00000589042.1 - 75 22150 c.21926G>A c.(21925-21927)gGa>gAa p.G7309E TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6065E|TTN_ENST00000591111.1_Missense_Mutation_p.G6992E|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6992 Ig-like 55. 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) AACATCCCTTCCTGCCTCATT 0.378000 15 26 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119428695 119428695 + Silent SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:119428695C>G ENST00000273390.5 + 5 530 c.453C>G c.(451-453)ctC>ctG p.L151L MAATS1_ENST00000463700.1_Silent_p.L151L NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GGCCTTTTCTCCCATTTTTTC 0.353000 7 38 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214169881 214169881 + Translation_Start_Site SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:214169881G>T ENST00000366958.4 + 2 611 c.3G>T c.(1-3)atG>atT p.M1I PROX1_ENST00000498508.2_Start_Codon_SNP_p.M1I|PROX1_ENST00000261454.4_Start_Codon_SNP_p.M1I|PROX1_ENST00000435016.1_Start_Codon_SNP_p.M1I NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 1 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GTCCAGTGATGCCTGACCATG 0.507000 12 35 7.03913e-09 7.34651e-09 1 1 0 PCDHA2 56146 broad.mit.edu 37 5 140176983 140176983 + Nonsense_Mutation SNP A A T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr5:140176983A>T ENST00000378132.1 + 1 2540 c.2434A>T c.(2434-2436)Aaa>Taa p.K812* PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_031495.1 NP_113683.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTCTTTTTAAAAAATTCTA 0.308000 8 15 0 0 1 0 0 CXXC5 51523 broad.mit.edu 37 5 139060867 139060867 + Silent SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr5:139060867C>T ENST00000302517.3 + 2 1473 c.759C>T c.(757-759)atC>atT p.I253I CXXC5_ENST00000511048.1_Silent_p.I253I|CXXC5_ENST00000515038.1_3'UTR NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 253 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCTGCCATCAGCTCCGGCA 0.632000 29 76 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146264650 146264650 + Missense_Mutation SNP A A C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr6:146264650A>C ENST00000367503.3 - 9 2265 c.1867T>G c.(1867-1869)Ttc>Gtc p.F623V SHPRH_ENST00000275233.7_Missense_Mutation_p.F623V|SHPRH_ENST00000438092.2_Missense_Mutation_p.F623V|SHPRH_ENST00000367505.2_Missense_Mutation_p.F623V NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 623 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TCTTGGTTGAATTCAGAGATA 0.403000 21 66 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21550081 21550081 + Missense_Mutation SNP G G A TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:21550081G>A ENST00000425654.2 + 11 1679 c.1199G>A c.(1198-1200)cGa>cAa p.R400Q CNKSR2_ENST00000379510.3_Missense_Mutation_p.R400Q|CNKSR2_ENST00000543067.1_Missense_Mutation_p.R351Q|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Missense_Mutation_p.R400Q NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 400 DUF1170. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CAGGAATATCGAAAGAGATTT 0.393000 18 46 0 0 1 0 0 SPRTN 83932 broad.mit.edu 37 1 231489080 231489080 + Missense_Mutation SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:231489080C>G ENST00000295050.7 + 5 1779 c.1443C>G c.(1441-1443)atC>atG p.I481M NM_001010984.2|NM_032018.5 NP_001010984.1|NP_114407.3 SprT-like N-terminal domain GTGACAGCATCAAAGTCAAAA 0.418000 12 37 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33956919 33956919 + Missense_Mutation SNP G G T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:33956919G>T ENST00000361328.3 + 6 1214 c.1061G>T c.(1060-1062)cGc>cTc p.R354L ZSCAN20_ENST00000373413.2_Missense_Mutation_p.R300L NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 354 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CACCAGAACCGCCAGGTATAT 0.517000 33 92 3.86903e-22 4.18415e-22 1 1 0 CXXC5 51523 broad.mit.edu 37 5 139061005 139061005 + Silent SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr5:139061005C>G ENST00000302517.3 + 2 1611 c.897C>G c.(895-897)ctC>ctG p.L299L CXXC5_ENST00000511048.1_Silent_p.L299L|CXXC5_ENST00000515038.1_3'UTR NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 299 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGGAACTCAAAAAGAAGC 0.567000 42 133 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121410218 121410218 + Missense_Mutation SNP C C T TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr3:121410218C>T ENST00000393667.3 - 14 8103 c.7993G>A c.(7993-7995)Gaa>Aaa p.E2665K GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2660K NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2660 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) ACCAATTCTTCTTCCAGTTCT 0.373000 36 113 0 0 1 0 0 GPR137B 7107 broad.mit.edu 37 1 236305987 236305988 + Frame_Shift_Ins INS - - C TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr1:236305987_236305988insC ENST00000366592.3 + 1 156_157 c.65_66insC c.(64-66)gccfs p.A22fs GPR137B_ENST00000366591.4_Frame_Shift_Ins_p.A22fs NM_003272.3 NP_003263.1 O60478 G137B_HUMAN G protein-coupled receptor 137B 22 integral to plasma membrane|membrane fraction endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) CCGCCGTGGGACCCAGCCCGCA 0.772 4 9 --- --- --- --- PIGG 54872 broad.mit.edu 37 4 524368 524370 + In_Frame_Del DEL TTC TTC - TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:524368_524370delTTC ENST00000453061.2 + 11 2511_2513 c.2405_2407delTTC c.(2404-2409)gtt>g p.VL802del PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_In_Frame_Del_p.VL669del|PIGG_ENST00000310340.5_In_Frame_Del_p.VL794del|PIGG_ENST00000504346.1_In_Frame_Del_p.VL713del NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 802 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 AGTGGATTAGTTCTTCTGGCAGC 0.414 52 145 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr4:3430399delA ENST00000336727.3 + 16 4430 c.3526delA c.(3526-3528)aafs p.K1178fs RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000344733.5_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000538395.1_Intron NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1178 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAAGATTGGGAAAAAAAAATA 0.328 7 67 --- --- --- --- SNORD118 727676 broad.mit.edu 37 9 38147473 38147473 + RNA DEL A A - TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:38147473delA ENST00000363156.1 + 0 49 gagggcagatagaacatgatg 0.408 2 4 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 2 4 --- --- --- --- KRT76 51350 broad.mit.edu 37 12 53162773 53162775 + In_Frame_Del DEL ACT ACT - rs1464423 by1000genomes TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr12:53162773_53162775delACT ENST00000332411.2 - 9 1692_1694 c.1639_1641delAGT c.(1639-1641)del p.S547del NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 547 Tail. cytoskeleton organization keratin filament structural molecule activity p.S547_G548insS(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ctccatagccactgctgctgctg 0.635 2 4 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726976 69726985 + Frame_Shift_Del DEL CTCATTCACA CTCATTCACA - TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr16:69726976_69726985delCTCATTCACA ENST00000349945.1 + 14 4518_4527 c.2966_2975delCTCATTCACA c.(2965-2976)tgfs p.SHSQ989fs NFAT5_ENST00000566899.1_Frame_Shift_Del_p.SHSQ989fs|NFAT5_ENST00000432919.1_Frame_Shift_Del_p.SHSQ1083fs|NFAT5_ENST00000393742.2_Frame_Shift_Del_p.SHSQ989fs|NFAT5_ENST00000354436.2_Frame_Shift_Del_p.SHSQ1065fs|NFAT5_ENST00000567239.1_Frame_Shift_Del_p.SHSQ1082fs NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1065 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CAGCAGTCTTCTCATTCACAGGCCCAACTT 0.414 27 94 --- --- --- --- TNK1 8711 broad.mit.edu 37 17 7291834 7291835 + Frame_Shift_Ins INS - - G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr17:7291834_7291835insG ENST00000570896.1 + 12 2033_2034 c.1587_1588insG c.(1585-1590)ccgcctfs p.P530fs TNK1_ENST00000576812.1_Frame_Shift_Ins_p.P535fs|TNK1_ENST00000311668.2_Frame_Shift_Ins_p.P530fs Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 535 Pro-rich. protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) AGGGACCTCCAGGCCTGCCTCC 0.614 21 53 --- --- --- --- SRSF6 6431 broad.mit.edu 37 20 42089617 42089619 + In_Frame_Del DEL CCT CCT - rs149557843 byFrequency TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr20:42089617_42089619delCCT ENST00000244020.3 + 6 1055_1057 c.949_951delCCT c.(949-951)del p.P319del NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 319 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 TTCTGTGTCCCCTCCACCAAAAA 0.478 22 75 --- --- --- --- TOX2 84969 broad.mit.edu 37 20 42574639 42574651 + Frame_Shift_Del DEL TGCAAGACACTGG TGCAAGACACTGG - TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chr20:42574639_42574651delTGCAAGACACTGG ENST00000358131.5 + 1 295_307 c.87_99delTGCAAGACACTGG c.(85-99)ctfs p.LARHW29fs TOX2_ENST00000423191.1_Intron|TOX2_ENST00000372999.1_Intron|TOX2_ENST00000341197.3_Intron NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.A30E(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TCCTTCTACTTGCAAGACACTGGTGCATTGCAG 0.587 7 40 --- --- --- --- HUWE1 10075 broad.mit.edu 37 X 53592084 53592087 + Frame_Shift_Del DEL GACT GACT - TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:53592084_53592087delGACT ENST00000342160.3 - 49 7278_7281 c.6821_6824delAGTC c.(6820-6825)atfs p.KS2274fs HUWE1_ENST00000262854.6_Frame_Shift_Del_p.KS2274fs Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2274 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 ATCCTGCTCAGACTTGTTCTTGCT 0.520 37 33 --- --- --- --- ARHGEF6 9459 broad.mit.edu 37 X 135825852 135825852 + Frame_Shift_Del DEL C C - TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49d64104-0345-4a84-b039-c7d76631b300 4e6f3c43-f771-46e9-930d-113f837e12ae g.chrX:135825852delC ENST00000250617.6 - 5 1758 c.553delG c.(553-555)acfs p.D185fs ARHGEF6_ENST00000370620.1_Frame_Shift_Del_p.D31fs|ARHGEF6_ENST00000535227.1_Frame_Shift_Del_p.D31fs|ARHGEF6_ENST00000370622.1_Frame_Shift_Del_p.D31fs NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 185 SH3. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TAAATGATGTCCCCCTTACAA 0.423 77 52 --- --- --- ---