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 DLC1 10395 broad.mit.edu 37 8 12957837 12957837 + Missense_Mutation SNP C C G TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr8:12957837C>G ENST00000276297.4 - 9 2418 c.2009G>C c.(2008-2010)cGg>cCg p.R670P DLC1_ENST00000520226.1_Missense_Mutation_p.R159P|DLC1_ENST00000358919.2_Missense_Mutation_p.R233P|DLC1_ENST00000512044.2_Missense_Mutation_p.R267P NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 670 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTCTCCATCCGTTTCAGCAG 0.562000 105 88 0 0 1 0 0 VWC2 375567 broad.mit.edu 37 7 49842318 49842318 + Silent SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr7:49842318C>T ENST00000340652.3 + 3 1264 c.708C>T c.(706-708)tgC>tgT p.C236C NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 236 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 TGTCTCCATGCGAGAGGTGTC 0.507000 33 181 0 0 1 0 0 QPCT 25797 broad.mit.edu 37 2 37594451 37594451 + Missense_Mutation SNP C C G TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr2:37594451C>G ENST00000338415.3 + 4 781 c.623C>G c.(622-624)tCt>tGt p.S208C QPCT_ENST00000537448.1_Missense_Mutation_p.S159C NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 208 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) CTTCACTGGTCTCCTCAAGAT 0.488000 28 46 0 0 1 0 0 TEF 7008 broad.mit.edu 37 22 41791868 41791868 + Silent SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr22:41791868C>T ENST00000266304.4 + 4 932 c.816C>T c.(814-816)aaC>aaT p.N272N TEF_ENST00000406644.3_Silent_p.N242N NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 272 Leucine-zipper. rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 AGAAGGAGAACACAGCCCTGC 0.587000 56 80 0 0 1 0 0 RRAGA 10670 broad.mit.edu 37 9 19049841 19049841 + Missense_Mutation SNP G G T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr9:19049841G>T ENST00000380527.1 + 1 470 c.184G>T c.(184-186)Gac>Tac p.D62Y NM_006570.4 NP_006561.1 Q7L523 RRAGA_HUMAN Ras-related GTP binding A 62 apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction Golgi apparatus|lysosome|nucleus GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(1) 3 GAACCTGTGGGACTGTGGCGG 0.542000 16 7 1.99824e-07 2.23683e-07 1 1 0 PPEF2 5470 broad.mit.edu 37 4 76787356 76787356 + Missense_Mutation SNP G G T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr4:76787356G>T ENST00000286719.7 - 15 2262 c.1906C>A c.(1906-1908)Caa>Aaa p.Q636K NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 636 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CGACTCAGTTGTTCCTTGGCC 0.493000 65 85 1.05635e-38 1.23791e-38 1 1 0 WDR63 126820 broad.mit.edu 37 1 85551533 85551533 + Missense_Mutation SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr1:85551533G>A ENST00000294664.6 + 7 740 c.560G>A c.(559-561)cGa>cAa p.R187Q WDR63_ENST00000326813.8_Missense_Mutation_p.R187Q|WDR63_ENST00000370596.1_Missense_Mutation_p.R187Q NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 187 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) ATGATTTCTCGAAAACGAAGT 0.373000 12 7 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23926730 23926730 + Missense_Mutation SNP T T A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr19:23926730T>A ENST00000402377.3 - 4 1763 c.1622A>T c.(1621-1623)aAa>aTa p.K541I ZNF681_ENST00000395385.3_Missense_Mutation_p.K472I NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GTTAAAGGCTTTGCCACATTC 0.393000 13 13 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171330202 171330202 + Missense_Mutation SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr3:171330202G>A ENST00000356327.5 - 24 2705 c.2635C>T c.(2635-2637)Cgc>Tgc p.R879C PLD1_ENST00000340989.4_Missense_Mutation_p.R917C|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.R917C NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 917 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) AGCATGCTGCGGTCATTTATG 0.493000 7 49 0 0 1 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99300314 99300314 + Splice_Site SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr4:99300314G>A ENST00000408927.3 + 5 621 c.508_splice c.e5+1 p.D170_splice RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000453712.2_Splice_Site_p.D171_splice|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000339360.5_Splice_Site_p.D171_splice NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 170 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) CAATGAGAATGGTAAACAAAA 0.333000 T NUP98 T-ALL 23 50 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61557154 61557154 + Missense_Mutation SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr17:61557154C>T ENST00000290866.4 + 4 560 c.536C>T c.(535-537)tCg>tTg p.S179L ACE_ENST00000428043.1_Missense_Mutation_p.S179L|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.S179L NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 179 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CTGGCTTCCTCGCGAAGCTAC 0.602000 34 53 0 0 1 0 0 TMEM229B 161145 broad.mit.edu 37 14 67940541 67940541 + Missense_Mutation SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr14:67940541C>T ENST00000357461.2 - 3 509 c.100G>A c.(100-102)Gtg>Atg p.V34M TMEM229B_ENST00000557006.1_Missense_Mutation_p.V34M NM_182526.2 NP_872332.1 Q8NBD8 T229B_HUMAN transmembrane protein 229B 34 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 AAGTTCACCACGAACTCCCAG 0.617000 13 14 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555313 44555313 + Missense_Mutation SNP A A G TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr18:44555313A>G ENST00000330682.2 - 1 1136 c.901T>C c.(901-903)Tcc>Ccc p.S301P KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 301 S -> C (in Ref. 1; BAC01113). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GCTGGCGCGGAGAGTGCTTCT 0.632000 59 1863 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65180375 65180375 + Missense_Mutation SNP G G T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr4:65180375G>T ENST00000381210.3 - 5 652 c.542C>A c.(541-543)cCa>cAa p.P181Q TECRL_ENST00000507440.1_Missense_Mutation_p.P181Q|TECRL_ENST00000513125.1_5'UTR NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 181 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CTGTACCACTGGGTGGCGTAA 0.438000 7 18 0.00198382 0.00203817 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 3 28 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18888133 18888133 + Missense_Mutation SNP C C A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr19:18888133C>A ENST00000338797.6 + 15 1919 c.1894C>A c.(1894-1896)Ccc>Acc p.P632T CRTC1_ENST00000321949.8_Missense_Mutation_p.P616T|CRTC1_ENST00000601916.1_Missense_Mutation_p.P374T|CRTC1_ENST00000594658.1_Missense_Mutation_p.P575T NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 616 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 GCTCAACGACCCCGACATGGT 0.682000 168 288 5.35467e-60 6.3746e-60 1 1 0 LILRB2 0 broad.mit.edu 37 19 54778558 54778558 + Silent SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr19:54778558G>A ENST00000391748.1 - 14 1900 c.1773C>T c.(1771-1773)taC>taT p.Y591Y LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Silent_p.Y476Y|LILRB2_ENST00000391749.4_Silent_p.Y592Y|LILRB2_ENST00000314446.5_Silent_p.Y591Y NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 592 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCAGGGTGGCGTAGATGCTGG 0.617000 36 67 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71114862 71114862 + Missense_Mutation SNP A A G TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr4:71114862A>G ENST00000304954.3 + 4 321 c.235A>G c.(235-237)Aca>Gca p.T79A NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 79 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 TGTGCCTCGCACATATTATGC 0.448000 29 33 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 463659 463659 + Missense_Mutation SNP C C A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr9:463659C>A ENST00000432829.2 + 47 6323 c.6007C>A c.(6007-6009)Cca>Aca p.P2003T DOCK8_ENST00000469391.1_Missense_Mutation_p.P1971T|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|DOCK8_ENST00000453981.1_Missense_Mutation_p.P2071T|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1538T|RP11-165F24.3_ENST00000589287.1_RNA NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 2071 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ACTGTACAAGCCAATATTCAG 0.478000 4 29 0.00909568 0.00921859 1 1 0 ANK3 288 broad.mit.edu 37 10 61835813 61835813 + Missense_Mutation SNP G G A rs148024054 byFrequency TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr10:61835813G>A ENST00000280772.1 - 37 5017 c.4826C>T c.(4825-4827)aCg>aTg p.T1609M ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1609 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTTAAGGGCGTAGCTTCCGT 0.473000 52 22 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5372548 5372548 + Missense_Mutation SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr7:5372548C>T ENST00000399537.4 - 19 6200 c.5852G>A c.(5851-5853)cGc>cAc p.R1951H TNRC18_ENST00000430969.1_Missense_Mutation_p.R1951H O15417 TNC18_HUMAN trinucleotide repeat containing 18 1951 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) GTCGGGACCGCGGGCGCCAGG 0.751000 6 21 0 0 1 0 0 BTC 685 broad.mit.edu 37 4 75673309 75673309 + Missense_Mutation SNP G G T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr4:75673309G>T ENST00000395743.3 - 5 839 c.479C>A c.(478-480)aCt>aAt p.T160N NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 160 positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) TTTACCCAGAGTTTCCATTTC 0.353000 7 13 8.12818e-05 8.46686e-05 1 1 0 ESRRB 2103 broad.mit.edu 37 14 76905888 76905888 + Silent SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr14:76905888C>T ENST00000380887.2 + 2 264 c.192C>T c.(190-192)ggC>ggT p.G64G ESRRB_ENST00000556177.1_Silent_p.G64G|ESRRB_ENST00000509242.1_Silent_p.G64G|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.G64G A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 64 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) TGTTTGCAGGCGCCGGGCTGG 0.677000 20 53 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51097053 51097053 + Silent SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr7:51097053C>T ENST00000395542.2 - 12 2170 c.1986G>A c.(1984-1986)gcG>gcA p.A662A COBL_ENST00000265136.7_Silent_p.A580A O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 580 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTTGAAGTGGCGCCAGGGAGT 0.552000 19 61 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29038477 29038477 + Missense_Mutation SNP C C A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr18:29038477C>A ENST00000257189.4 + 4 369 c.286C>A c.(286-288)Cct>Act p.P96T NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 96 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CGATCAGCCGCCTTTTGGAAT 0.443000 17 33 3.52763e-06 3.83438e-06 1 1 0 CDHR1 92211 broad.mit.edu 37 10 85970774 85970774 + Silent SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr10:85970774G>A ENST00000372117.3 + 13 1441 c.1338G>A c.(1336-1338)gtG>gtA p.V446V CDHR1_ENST00000332904.3_Silent_p.V446V|CDHR1_ENST00000440770.2_Intron NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 446 Cadherin 4. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 CTGTTGAAGTGAACACCCCAG 0.552000 5 112 0 0 1 0 0 GOLGA8I 0 broad.mit.edu 37 15 23261024 23261024 + Missense_Mutation SNP A A T rs146352451 by1000genomes TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr15:23261024A>T ENST00000450802.3 + 10 797 c.699A>T c.(697-699)caA>caT p.Q233H CATTTCAACAACTCCAATTAG 0.502000 3 32 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35821247 35821247 + Missense_Mutation SNP G G T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chrX:35821247G>T ENST00000399989.1 + 2 1213 c.934G>T c.(934-936)Gct>Tct p.A312S MAGEB16_ENST00000399987.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.A344S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.A312S NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 312 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GTATGCGGAAGCTCTGAAAGA 0.488000 5 1 0.184627 0.184627 1 1 0 USP32P3 0 broad.mit.edu 37 17 20320135 20320135 + RNA SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr17:20320135C>T ENST00000583574.2 + 0 333 ACAGCAGGGCCATTTGGCCTG 0.577000 4 5 0 0 1 0 0 HBD 3045 broad.mit.edu 37 11 5255603 5255603 + Missense_Mutation SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr11:5255603C>T ENST00000380299.3 - 1 275 c.61G>A c.(61-63)Gtg>Atg p.V21M HBD_ENST00000292901.3_Missense_Mutation_p.V21M NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 21 V -> E (in Roosevelt; dbSNP:rs34093840). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTGCATCCACGTTCACTTTG 0.507000 19 37 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57428501 57428501 + Missense_Mutation SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr20:57428501G>A ENST00000371100.4 + 1 733 c.181G>A c.(181-183)Gtc>Atc p.V61I GNAS_ENST00000371102.4_Missense_Mutation_p.V61I|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCCCATCCCCGTCGAGAATGA 0.642000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 10 14 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151914325 151914325 + Silent SNP C C T rs113968720 TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr6:151914325C>T ENST00000367290.5 + 8 1466 c.1377C>T c.(1375-1377)gaC>gaT p.D459D CCDC170_ENST00000239374.7_Silent_p.D459D Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 459 p.D459E(1) TGCGGCTGGACGTGGTTTTAG 0.453000 23 31 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35560371 35560371 + Missense_Mutation SNP A A T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr9:35560371A>T ENST00000455600.1 + 10 4303 c.3734A>T c.(3733-3735)gAg>gTg p.E1245V NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1245 Poly-Glu. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) gaggaagaagaggagacagaa 0.682000 24 35 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69689703 69689703 + Splice_Site SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr16:69689703G>A ENST00000349945.1 + 7 2466 c.e7+1 NFAT5_ENST00000567239.1_Splice_Site|NFAT5_ENST00000432919.1_Splice_Site|NFAT5_ENST00000393742.2_Splice_Site|NFAT5_ENST00000354436.2_Splice_Site|NFAT5_ENST00000566899.1_Splice_Site NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 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 TGACACTGGCGTAAGTACTTA 0.353000 15 27 0 0 1 0 0 GPR32 2854 broad.mit.edu 37 19 51274118 51274118 + Silent SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr19:51274118C>T ENST00000270590.4 + 1 398 c.261C>T c.(259-261)gcC>gcT p.A87A NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 87 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TGGCCCTTGCCGATTTCATGC 0.562000 26 46 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150948306 150948306 + Missense_Mutation SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr5:150948306C>T ENST00000261800.5 - 1 199 c.187G>A c.(187-189)Gcg>Acg p.A63T NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 63 Cadherin 1. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTGGCTCCGCGAGGTAGATG 0.493000 56 105 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123179197 123179197 + Nonsense_Mutation SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chrX:123179197C>T ENST00000371160.1 + 8 936 c.646C>T c.(646-648)Cga>Tga p.R216* STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R147*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R216*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R216* Q8N3U4 STAG2_HUMAN stromal antigen 2 216 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CAGAGCATTTCGACATACAAG 0.343000 44 13 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89685307 89685307 + Missense_Mutation SNP T T C TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr10:89685307T>C ENST00000371953.3 + 3 1559 c.202T>C c.(202-204)Tac>Cac p.Y68H NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 68 Phosphatase tensin-type. Y -> H (in CD and BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.Y68H(8)|p.?(6)|p.R55fs*1(5)|p.Y68N(2)|p.Y68fs*5(2)|p.Y27fs*1(2)|p.I67_Y68insY(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTACAAGATATACAATCTGTA 0.274000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 2 2 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35692734 35692734 + Missense_Mutation SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr5:35692734G>A ENST00000440995.2 + 12 1807 c.1807G>A c.(1807-1809)Gac>Aac p.D603N SPEF2_ENST00000509059.1_Missense_Mutation_p.D603N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D603N|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 603 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCATTTCATGACAATGAAAA 0.343000 27 34 0 0 1 0 0 WISP2 8839 broad.mit.edu 37 20 43344046 43344046 + Silent SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr20:43344046G>A ENST00000372868.2 + 2 358 c.15G>A c.(13-15)ccG>ccA p.P5P WISP2_ENST00000190983.4_Silent_p.P5P|WISP2_ENST00000372865.4_Silent_p.P5P|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 5 cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) GAGGCACACCGAAGACCCACC 0.612000 5 7 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487786 248487786 + Missense_Mutation SNP A A T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr1:248487786A>T ENST00000317965.2 - 1 113 c.85T>A c.(85-87)Ttt>Att p.F29I NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGACCAGAAAGAAGAGGAAG 0.502000 106 126 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19752430 19752430 + Missense_Mutation SNP C C T rs140107190 TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr13:19752430C>T ENST00000400113.3 - 3 435 c.331G>A c.(331-333)Ggc>Agc p.G111S NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 111 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.G111S(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ATCTCCTTGCCGATGGTGTAA 0.542000 50 86 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 5 42 0 0 1 0 0 QDPR 5860 broad.mit.edu 37 4 17513644 17513644 + Missense_Mutation SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr4:17513644G>A ENST00000281243.5 - 1 213 c.34C>T c.(34-36)Cgg>Tgg p.R12W QDPR_ENST00000513615.1_Missense_Mutation_p.R12W|QDPR_ENST00000428702.2_Missense_Mutation_p.R12W|QDPR_ENST00000508623.1_Missense_Mutation_p.R12W NM_000320.2 NP_000311.2 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 12 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) ACCAGCACCCGGCGCGCCTCG 0.756000 19 19 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75022287 75022287 + Missense_Mutation SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr14:75022287C>T ENST00000261978.4 - 4 1326 c.940G>A c.(940-942)Gcc>Acc p.A314T LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.A314T NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 314 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGGGGCAGGGCGTTGGAAGAG 0.652000 10 109 0 0 1 0 0 LILRB2 0 broad.mit.edu 37 19 54780127 54780127 + Nonsense_Mutation SNP C C A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr19:54780127C>A ENST00000391748.1 - 12 1712 c.1585G>T c.(1585-1587)Gaa>Taa p.E529* LILRB2_ENST00000391746.1_Missense_Mutation_p.K504N|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.E414*|LILRB2_ENST00000391749.4_Nonsense_Mutation_p.E530*|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.E529* NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 530 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGAGGTTTTCTTCCTGGGCG 0.627000 17 111 6.49762e-13 7.38366e-13 1 1 0 PSG8 0 broad.mit.edu 37 19 43258728 43258728 + Missense_Mutation SNP G G T rs138526624 byFrequency TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr19:43258728G>T ENST00000404209.4 - 5 1096 c.1000C>A c.(1000-1002)Ctc>Atc p.L334I PSG8_ENST00000401467.2_Missense_Mutation_p.L241I|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.L334I|PSG8_ENST00000406636.3_Missense_Mutation_p.L212I NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 334 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) ATTCTGGGGAGGTCTGGACCA 0.502000 5 82 1.23904e-05 1.32754e-05 1 1 0 EMC1 23065 broad.mit.edu 37 1 19563721 19563721 + Silent SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr1:19563721C>T ENST00000477853.1 - 12 1266 c.1224G>A c.(1222-1224)caG>caA p.Q408Q EMC1_ENST00000375199.3_Silent_p.Q407Q|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.Q386Q NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 TCAAGAACACCTGGATATACA 0.502000 44 81 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238249144 238249144 + Silent SNP G G A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr2:238249144G>A ENST00000295550.4 - 38 8867 c.8415C>T c.(8413-8415)aaC>aaT p.N2805N COL6A3_ENST00000353578.4_Silent_p.N2599N|COL6A3_ENST00000347401.3_Silent_p.N2604N|COL6A3_ENST00000346358.4_Silent_p.N2605N|COL6A3_ENST00000472056.1_Silent_p.N2198N|COL6A3_ENST00000409809.1_Silent_p.N2599N NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2805 Nonhelical region.|VWFA 12. N -> T (in dbSNP:rs35848091). axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AAGGCTCCTCGTTGAGCTCGG 0.557000 34 47 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19575087 19575087 + Silent SNP C C T rs151258565 by1000genomes TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr3:19575087C>T ENST00000328405.2 + 16 3086 c.2820C>T c.(2818-2820)ggC>ggT p.G940G NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 940 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TGCAAACAGGCGGGGCTGCTT 0.542000 33 44 0 0 1 0 0 TMEM99 147184 broad.mit.edu 37 17 38991040 38991040 + Nonsense_Mutation SNP T T A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr17:38991040T>A ENST00000301665.3 + 3 576 c.272T>A c.(271-273)tTg>tAg p.L91* NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 91 integral to membrane cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) GGTCATCGGTTGAGAGAAGGA 0.458000 79 90 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100361871 100361871 + Missense_Mutation SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr1:100361871C>T ENST00000294724.4 + 25 3767 c.3289C>T c.(3289-3291)Cgc>Tgc p.R1097C AGL_ENST00000370161.2_Missense_Mutation_p.R1081C|AGL_ENST00000361302.3_Missense_Mutation_p.R1081C|AGL_ENST00000361522.4_Missense_Mutation_p.R1080C|AGL_ENST00000370163.3_Missense_Mutation_p.R1097C|AGL_ENST00000361915.3_Missense_Mutation_p.R1097C|AGL_ENST00000370165.3_Missense_Mutation_p.R1097C NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1097 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TGGTATTTTCCGCTGCTGGGG 0.373000 29 44 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380663 56380663 + Missense_Mutation SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr11:56380663C>T ENST00000526538.1 - 1 315 c.316G>A c.(316-318)Gcc>Acc p.A106T NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A106T(2) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 ATCACCAGGGCGATGAAGAGA 0.448000 20 30 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298219 107298219 + Silent SNP C C T rs145221004 TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr9:107298219C>T ENST00000374781.2 - 1 918 c.876G>A c.(874-876)ccG>ccA p.P292P NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 CTTGAGACTTCGGTTTCGCAT 0.438000 39 68 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578276 9578276 + Silent SNP T T A TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr19:9578276T>A ENST00000301480.4 - 10 1560 c.1347A>T c.(1345-1347)ggA>ggT p.G449G NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CTCTCAAATGTCCAAAAAGAG 0.398000 41 48 0 0 1 0 0 HS3ST6 64711 broad.mit.edu 37 16 1962140 1962140 + Silent SNP C C T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr16:1962140C>T ENST00000454677.2 - 2 596 c.531G>A c.(529-531)acG>acA p.T177T HS3ST6_ENST00000443547.1_Silent_p.T129T|HS3ST6_ENST00000293937.3_Silent_p.T160T C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 129 endometrium(2)|lung(2) 4 GGGCCTCTCGCGTCACGAAGT 0.672000 17 23 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726330 63726330 + Missense_Mutation SNP C C G TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr7:63726330C>G ENST00000421025.1 + 5 588 c.319C>G c.(319-321)Ctc>Gtc p.L107V ZNF679_ENST00000255746.4_Missense_Mutation_p.L107V NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 AAAAGATTCACTCCAAAAAGT 0.378000 8 17 0 0 1 0 0 PMS2P4 0 broad.mit.edu 37 7 66762432 66762432 + RNA DEL G G - rs60169909 TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr7:66762432delG ENST00000414507.1 - 0 184 gtctcaaaaagaaaaaaaaaa 0.408 4 5 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57554314 57554315 + Frame_Shift_Ins INS - - T TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr15:57554314_57554315insT ENST00000267811.5 + 16 1722_1723 c.1418_1419insT c.(1417-1419)tgtfs p.C473fs TCF12_ENST00000343827.3_Frame_Shift_Ins_p.C303fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.C327fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.C497fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.C131fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.C473fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.C493fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.C237fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.C107fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.C497fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 473 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.S497fs*12(1) TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CGGGAAGACTCTGTCAGTCTCA 0.351 T TEC extraskeletal myxoid chondrosarcoma 6 10 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3828795 3828795 + Frame_Shift_Del DEL G G - TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr16:3828795delG ENST00000262367.5 - 9 2656 c.1847delC c.(1846-1848)ctfs p.P616fs CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P578fs NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 616 KIX. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.P616R(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGCGGGATCAGGTGTTGGGAA 0.468 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 46 87 --- --- --- --- RP11-1166P10.8 0 broad.mit.edu 37 16 32126940 32126941 + RNA INS - - C TCGA-HT-8011-01A-11D-2395-08 TCGA-HT-8011-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx bbe11ade-61db-4377-80b8-085c8a012162 8f7801c3-5cc4-41ac-a7db-4969f6ea56b7 g.chr16:32126940_32126941insC ENST00000564145.1 - 0 456 TTGACCCCCCGCCGCCGCGGCT 0.663 2 4 --- --- --- ---