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 PTPN2 5771 broad.mit.edu 37 18 12802000 12802000 + Missense_Mutation SNP T T C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr18:12802000T>C ENST00000309660.5 - 8 1102 c.1009A>G c.(1009-1011)Atg>Gtg p.M337V PTPN2_ENST00000591115.1_Missense_Mutation_p.M360V|PTPN2_ENST00000591497.1_Missense_Mutation_p.M308V|PTPN2_ENST00000353319.4_Missense_Mutation_p.M337V|PTPN2_ENST00000327283.3_Missense_Mutation_p.M337V NM_002828.3 NP_002819.2 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 2 337 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3) 13 Lung NSC(161;8.94e-06) GTATCTTGCATTTTAGAGGAA 0.348000 122 110 0 0 0.048971 0 0 FAT3 120114 broad.mit.edu 37 11 92533470 92533470 + Missense_Mutation SNP T T C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr11:92533470T>C ENST00000298047.6 + 9 7308 c.7291T>C c.(7291-7293)Tat>Cat p.Y2431H FAT3_ENST00000409404.2_Missense_Mutation_p.Y2431H|FAT3_ENST00000525166.1_Missense_Mutation_p.Y2281H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2431 Cadherin 22. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCGGTTGGAATATAGCATTTT 0.478000 TCGA Ovarian(4;0.039) 45 60 0 0 0.048971 0 0 SYNJ1 8867 broad.mit.edu 37 21 34067407 34067407 + Missense_Mutation SNP T T G TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr21:34067407T>G ENST00000382499.2 - 5 781 c.782A>C c.(781-783)aAt>aCt p.N261T SYNJ1_ENST00000382491.3_Missense_Mutation_p.N222T|SYNJ1_ENST00000357345.3_Missense_Mutation_p.N222T|SYNJ1_ENST00000322229.7_Missense_Mutation_p.N222T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.N261T NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 222 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 ACCATCATCATTTGTTCCCCG 0.358000 48 80 0 0 0.048971 0 0 ITGA6 0 broad.mit.edu 37 2 173330368 173330368 + Missense_Mutation SNP C C A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr2:173330368C>A ENST00000375221.2 + 2 487 c.284C>A c.(283-285)aCg>aAg p.T95K ITGA6_ENST00000409080.1_Missense_Mutation_p.T95K|ITGA6_ENST00000264107.7_Missense_Mutation_p.T95K|ITGA6_ENST00000409532.1_5'UTR|AC078883.3_ENST00000417539.1_RNA|AC078883.3_ENST00000458314.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.T95K|ITGA6_ENST00000264106.6_Missense_Mutation_p.T95K P23229 ITA6_HUMAN integrin, alpha 6 95 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) GGGCCATGCACGCGGATCGAG 0.622000 OREG0015066 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 17 6.97489e-18 1.00438e-17 0.074837 1 0 ATP6V1A 523 broad.mit.edu 37 3 113507676 113507676 + Missense_Mutation SNP G G T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr3:113507676G>T ENST00000273398.3 + 7 941 c.833G>T c.(832-834)gGt>gTt p.G278V ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G245V NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 278 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTAGGATGTGGTGAAAGAGGA 0.418000 37 61 3.38236e-24 4.96999e-24 0.092188 1 0 DIP2B 57609 broad.mit.edu 37 12 51138473 51138473 + Nonsense_Mutation SNP G G T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr12:51138473G>T ENST00000301180.5 + 38 4616 c.4582G>T c.(4582-4584)Gaa>Taa p.E1528* NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1528 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CGTGGTCCTGGAAGAGCATTA 0.547000 16 55 6.72482e-11 9.13561e-11 0.024245 1 0 UBAP2 55833 broad.mit.edu 37 9 33989021 33989021 + Missense_Mutation SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr9:33989021C>T ENST00000379238.1 - 5 509 c.392G>A c.(391-393)gGa>gAa p.G131E UBAP2_ENST00000360802.1_Missense_Mutation_p.G131E|UBAP2_ENST00000449054.1_Missense_Mutation_p.G131E|UBAP2_ENST00000418786.2_Missense_Mutation_p.G131E|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000539807.1_Intron Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 131 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) GTTTCCACGTCCACGACTCGA 0.403000 6 183 0 0 0.029380 0 0 SEC14L5 9717 broad.mit.edu 37 16 5038269 5038269 + Missense_Mutation SNP C C G TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr16:5038269C>G ENST00000251170.7 + 4 513 c.333C>G c.(331-333)caC>caG p.H111Q NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 111 PRELI/MSF1. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 TGAACGAGCACTGCAGCTACA 0.632000 10 31 0 0 0.069234 0 0 TRPV2 51393 broad.mit.edu 37 17 16321003 16321003 + Silent SNP T T C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr17:16321003T>C ENST00000338560.7 + 2 420 c.21T>C c.(19-21)tcT>tcC p.S7S TRPV2_ENST00000577397.1_5'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 7 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCTCCAGCTCTCCAGTTTTCA 0.577000 3 76 0 0 0.004672 0 0 CDK17 5128 broad.mit.edu 37 12 96677410 96677410 + Missense_Mutation SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr12:96677410C>T ENST00000261211.3 - 14 1939 c.1336G>A c.(1336-1338)Gga>Aga p.G446R CDK17_ENST00000542666.1_Missense_Mutation_p.G393R|CDK17_ENST00000543119.2_Missense_Mutation_p.G446R NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 446 Protein kinase. ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 AACTCAATTCCTTCAGAGTCT 0.313000 6 95 0 0 0.021553 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1844605 1844605 + Missense_Mutation SNP A A C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr8:1844605A>C ENST00000518288.1 + 15 1785 c.1622A>C c.(1621-1623)gAa>gCa p.E541A ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E478A|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E502A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E541A|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E541A|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E516A O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 541 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GCTTTTCTTGAATTTTTAAAG 0.388000 4 82 0 0 0.009096 0 0 DGKH 160851 broad.mit.edu 37 13 42742922 42742922 + Silent SNP A A G TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr13:42742922A>G ENST00000379274.2 + 11 1356 c.927A>G c.(925-927)aaA>aaG p.K309K DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Silent_p.K200K|DGKH_ENST00000337343.4_Silent_p.K445K|DGKH_ENST00000536612.1_Silent_p.K309K|DGKH_ENST00000540693.1_Silent_p.K445K|DGKH_ENST00000261491.4_Silent_p.K445K Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 445 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TCCTAGAGAAACTGGAACGAG 0.423000 37 15 0 0 0.074837 0 0 MEF2C 4208 broad.mit.edu 37 5 88027604 88027604 + Missense_Mutation SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr5:88027604C>T ENST00000504921.2 - 7 1424 c.752G>A c.(751-753)cGt>cAt p.R251H MEF2C_ENST00000514015.1_Missense_Mutation_p.R251H|MEF2C_ENST00000506554.1_Missense_Mutation_p.R251H|MEF2C_ENST00000437473.2_Missense_Mutation_p.R251H|MEF2C_ENST00000508569.1_Missense_Mutation_p.R251H|MEF2C_ENST00000510942.1_Missense_Mutation_p.R251H|MEF2C_ENST00000424173.2_Missense_Mutation_p.R249H|MEF2C_ENST00000539796.1_Missense_Mutation_p.R203H|MEF2C_ENST00000514028.1_Missense_Mutation_p.R251H|MEF2C_ENST00000340208.5_Missense_Mutation_p.R269H Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 251 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) ATCTGGTTTACGGTTATTCAT 0.388000 HNSCC(66;0.2) 19 30 0 0 0.062417 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 49 0 0 0.009096 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 116 0 0 0.009096 0 0 ATOH1 474 broad.mit.edu 37 4 94750645 94750645 + Missense_Mutation SNP A A G TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr4:94750645A>G ENST00000306011.3 + 1 604 c.568A>G c.(568-570)Aac>Gac p.N190D NM_005172.1 NP_005163.1 Q92858 ATOH1_HUMAN atonal homolog 1 (Drosophila) 190 Helix-loop-helix motif. transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) CCCGTCGTTCAACAACGACAA 0.577000 31 39 0 0 0.037714 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813420 106813420 + Silent SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr8:106813420C>T ENST00000407775.2 + 8 1360 c.1110C>T c.(1108-1110)ttC>ttT p.F370F ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.F238F|ZFPM2_ENST00000520492.1_Silent_p.F238F|ZFPM2_ENST00000378472.4_Silent_p.F101F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 370 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACTGCCATTTCGGCTTCCAGA 0.512000 9 196 0 0 0.069234 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103442221 103442221 + Splice_Site SNP T T G TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr14:103442221T>G ENST00000361246.2 - 10 1674 c.1387_splice c.e10+1 p.Q462_splice NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 462 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TGCCCTCACCTTGCAGCTTCC 0.662000 8 128 0 0 0.038147 0 0 LRP4 4038 broad.mit.edu 37 11 46889635 46889635 + Missense_Mutation SNP G G C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr11:46889635G>C ENST00000378623.1 - 34 5224 c.4982C>G c.(4981-4983)gCt>gGt p.A1661G LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1661 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CATGCCAGTAGCCCTAGGAGC 0.537000 4 85 0 0 0.009096 0 0 CCDC180 100499483 broad.mit.edu 37 9 100128910 100128910 + Missense_Mutation SNP G G A rs147885690 TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr9:100128910G>A ENST00000375202.2 + 45 5601 c.4249G>A c.(4249-4251)Gcc>Acc p.A1417T CCDC180_ENST00000529487.1_Missense_Mutation_p.A1417T|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.A1362T|CCDC180_ENST00000395220.1_3'UTR coiled-coil domain containing 180 TGACCAGTGCGCCGAGAACAT 0.532000 4 46 0 0 0.014758 0 0 COL11A1 1301 broad.mit.edu 37 1 103404601 103404601 + Missense_Mutation SNP T T G TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr1:103404601T>G ENST00000358392.2 - 44 3781 c.3464A>C c.(3463-3465)aAg>aCg p.K1155T COL11A1_ENST00000512756.1_Missense_Mutation_p.K1027T|COL11A1_ENST00000353414.4_Missense_Mutation_p.K1104T|COL11A1_ENST00000370096.3_Missense_Mutation_p.K1143T NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1143 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATTTTCTCCCTTGTCACCCTT 0.338000 4 63 0 0 0.014758 0 0 OR10J1 26476 broad.mit.edu 37 1 159409943 159409943 + Missense_Mutation SNP A A G TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr1:159409943A>G ENST00000423932.3 + 1 432 c.395A>G c.(394-396)gAc>gGc p.D132G RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 132 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) ATGGGATATGACCGCTATGTG 0.498000 3 130 0 0 0.004672 0 0 SENP7 57337 broad.mit.edu 37 3 101047392 101047392 + Splice_Site SNP T T C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr3:101047392T>C ENST00000394095.2 - 22 2849 c.e22-2 SENP7_ENST00000394085.3_Splice_Site|SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000394094.2_Splice_Site NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ATACATGGCCTATGAAAAGCA 0.318000 3 173 0 0 0.004672 0 0 SOBP 55084 broad.mit.edu 37 6 107824969 107824969 + Missense_Mutation SNP G G A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr6:107824969G>A ENST00000317357.5 + 2 864 c.205G>A c.(205-207)Gag>Aag p.E69K NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 69 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) TACAGATGGGGAGAGCCGGCA 0.403000 6 94 0 0 0.029380 0 0 TCAP 8557 broad.mit.edu 37 17 37821715 37821715 + Missense_Mutation SNP G G A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr17:37821715G>A ENST00000309889.2 + 1 1276 c.103G>A c.(103-105)Gag>Aag p.E35K TCAP_ENST00000578283.1_Missense_Mutation_p.E35K O15273 TELT_HUMAN titin-cap 35 adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly cytosol|Z disc structural constituent of muscle|titin binding|titin Z domain binding kidney(1)|lung(1) 2 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CACACGGCCCGAGGAGGGGTG 0.617000 29 43 0 0 0.037714 0 0 LILRA3 0 broad.mit.edu 37 19 54802486 54802486 + Missense_Mutation SNP T T C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr19:54802486T>C ENST00000391745.1 - 9 1322 c.1006A>G c.(1006-1008)Aca>Gca p.T336A LILRA3_ENST00000391744.3_Missense_Mutation_p.T255A|LILRA3_ENST00000251390.3_Missense_Mutation_p.T319A leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCCTCACCTGTGATCAGGATG 0.682000 3 45 0 0 0.014758 0 0 ROBO1 6091 broad.mit.edu 37 3 78667056 78667056 + Silent SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr3:78667056C>T ENST00000436010.2 - 25 4891 c.3894G>A c.(3892-3894)gaG>gaA p.E1298E ROBO1_ENST00000464233.1_Silent_p.E1337E|ROBO1_ENST00000495273.1_Silent_p.E1292E|ROBO1_ENST00000467549.1_Silent_p.E1237E Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1337 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) TCTTGGCTACCTCCATGTCGG 0.547000 41 45 0 0 0.042209 0 0 SLC50A1 55974 broad.mit.edu 37 1 155110477 155110477 + Missense_Mutation SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr1:155110477C>T ENST00000368404.4 + 5 529 c.467C>T c.(466-468)tCa>tTa p.S156L SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S102L|SLC50A1_ENST00000484157.1_Missense_Mutation_p.S91L|SLC50A1_ENST00000368401.5_Missense_Mutation_p.S101L NM_018845.3 NP_061333.2 Q9BRV3 SWET1_HUMAN solute carrier family 50 (sugar efflux transporter), member 1 156 Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity endometrium(1)|lung(1)|ovary(1)|skin(1) 4 CAAACTAAATCAACCCAATGT 0.463000 56 62 0 0 0.048971 0 0 TNXB 7148 broad.mit.edu 37 6 32053654 32053654 + Silent SNP C C A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr6:32053654C>A ENST00000375244.3 - 7 3222 c.3021G>T c.(3019-3021)gtG>gtT p.V1007V TNXB_ENST00000375247.2_Silent_p.V1007V P22105 TENX_HUMAN tenascin XB 1094 Fibronectin type-III 2. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCCCTGGCAGCACTTCCTCAT 0.682000 5 109 0.000602214 0.000788353 0.014758 1 0 MFI2 4241 broad.mit.edu 37 3 196744089 196744089 + Missense_Mutation SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr3:196744089C>T ENST00000296350.5 - 7 898 c.785G>A c.(784-786)cGg>cAg p.R262Q NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 262 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GACATCGGCCCGGCTACCATC 0.687000 10 14 0 0 0.058154 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68719844 68719844 + Missense_Mutation SNP T T G TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr4:68719844T>G ENST00000283916.6 - 3 289 c.191A>C c.(190-192)cAg>cCg p.Q64P RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 64 SEA. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 TGAATTTAACTGACTATTATA 0.303000 6 79 0 0 0.021553 0 0 OTOA 146183 broad.mit.edu 37 16 21726417 21726417 + Missense_Mutation SNP G G A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr16:21726417G>A ENST00000388958.3 + 13 1433 c.1432G>A c.(1432-1434)Gtc>Atc p.V478I OTOA_ENST00000388956.4_Missense_Mutation_p.V399I|OTOA_ENST00000388957.3_Missense_Mutation_p.V154I|OTOA_ENST00000286149.4_Missense_Mutation_p.V492I NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 492 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix p.V478I(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GAGAAGTGCCGTCTCCCAGTA 0.577000 18 252 0 0 0.055883 0 0 ATG14 22863 broad.mit.edu 37 14 55848836 55848836 + Missense_Mutation SNP G G A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr14:55848836G>A ENST00000247178.5 - 6 756 c.721C>T c.(721-723)Cgg>Tgg p.R241W NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 241 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 GTTGTCCTCCGGGCTTCAGCA 0.527000 56 62 0 0 0.048971 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 51 0 0 0.009096 0 0 INTS1 26173 broad.mit.edu 37 7 1542704 1542704 + Missense_Mutation SNP G G A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr7:1542704G>A ENST00000389470.4 - 4 565 c.566C>T c.(565-567)gCg>gTg p.A189V INTS1_ENST00000404767.3_Missense_Mutation_p.A61V Q8N201 INT1_HUMAN integrator complex subunit 1 61 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CGCGGCCGCCGCATCCCGCTT 0.657000 5 110 0 0 0.014758 0 0 KIR3DX1 0 broad.mit.edu 37 19 55046936 55046936 + Missense_Mutation SNP C C A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr19:55046936C>A ENST00000335056.3 + 4 519 c.481C>A c.(481-483)Cat>Aat p.H161N KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GCACATACAGCATTCCCAGCA 0.557000 20 44 4.96729e-08 6.62305e-08 0.049695 1 0 SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr17:47696432A>C ENST00000393331.3 - 7 861 c.391T>G c.(391-393)Tgg>Ggg p.W131G SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458000 Prostate(2;0.17) 79 106 0 0 0.048971 0 0 GLI1 2735 broad.mit.edu 37 12 57864192 57864192 + Missense_Mutation SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr12:57864192C>T ENST00000228682.2 + 12 1760 c.1669C>T c.(1669-1671)Cgc>Tgc p.R557C GLI1_ENST00000543426.1_Missense_Mutation_p.R429C|GLI1_ENST00000546141.1_Missense_Mutation_p.R516C NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 557 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) TACTGTCAGCCGCCGCTCCTC 0.647000 43 74 0 0 0.045515 0 0 TBC1D14 57533 broad.mit.edu 37 4 6995922 6995922 + Silent SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr4:6995922C>T ENST00000409757.4 + 4 979 c.855C>T c.(853-855)gaC>gaT p.D285D TBC1D14_ENST00000451522.2_Silent_p.D5D|TBC1D14_ENST00000448507.1_Silent_p.D285D|TBC1D14_ENST00000410031.1_Silent_p.D57D NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 285 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 aatatgaagacaaggctggaa 0.458000 8 94 0 0 0.038147 0 0 RP9 6100 broad.mit.edu 37 7 33138944 33138944 + Silent SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr7:33138944C>T ENST00000297157.3 - 3 305 c.288G>A c.(286-288)ctG>ctA p.L96L NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 96 PIM1-binding (By similarity). RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding large_intestine(3)|lung(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(11;0.0403) CTTCTTTCCCCAGTGGCATCC 0.428000 4 151 0 0 0.014758 0 0 TGFA 7039 broad.mit.edu 37 2 70680366 70680366 + Silent SNP G G A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr2:70680366G>A ENST00000295400.6 - 5 706 c.459C>T c.(457-459)tgC>tgT p.C153C TGFA_ENST00000445399.1_Silent_p.C152C|TGFA_ENST00000444975.1_Silent_p.C159C|TGFA_ENST00000450929.1_Silent_p.C158C|TGFA_ENST00000418333.2_Silent_p.C152C NM_001099691.2|NM_003236.3 NP_001093161.1|NP_003227.1 P01135 TGFA_HUMAN transforming growth factor, alpha 153 activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis cell surface|extracellular space|integral to membrane|plasma membrane epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1) 4 CTGAGTGGCAGCAAGCGGTTC 0.577000 4 171 0 0 0.014758 0 0 APBA1 320 broad.mit.edu 37 9 72131395 72131395 + Silent SNP G G A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr9:72131395G>A ENST00000265381.4 - 2 954 c.732C>T c.(730-732)ggC>ggT p.G244G NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 244 Munc-18-1 binding. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TGTCGGACTCGCCGTCGGAGC 0.701000 24 23 0 0 0.099896 0 0 KIN 22944 broad.mit.edu 37 10 7808017 7808017 + Splice_Site SNP G G T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr10:7808017G>T ENST00000379562.3 - 9 895 c.849_splice c.e9+1 p.P283_splice KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Splice_Site_p.P283_splice|KIN_ENST00000543003.1_Splice_Site_p.P177_splice O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 283 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 AATACTTACAGGCTGTAGCCA 0.328000 11 42 6.42651e-13 8.89825e-13 0.080935 1 0 RLBP1 6017 broad.mit.edu 37 15 89760395 89760395 + Missense_Mutation SNP C C T TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr15:89760395C>T ENST00000268125.5 - 5 741 c.302G>A c.(301-303)cGc>cAc p.R101H NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 101 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) CTTCCGTGCGCGGATGAAGCG 0.667000 22 35 0 0 0.062417 0 0 PDE7A 5150 broad.mit.edu 37 8 66753620 66753620 + Missense_Mutation SNP G G A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr8:66753620G>A ENST00000401827.3 - 1 567 c.124C>T c.(124-126)Cgg>Tgg p.R42W PDE7A_ENST00000396642.3_Missense_Mutation_p.R42W NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 42 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) GAGAGCTGCCGGGGATTGGGG 0.657000 17 32 0 0 0.043863 0 0 EFHC2 80258 broad.mit.edu 37 X 44171919 44171919 + Silent SNP T T C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chrX:44171919T>C ENST00000420999.1 - 2 209 c.126A>G c.(124-126)ggA>ggG p.G42G NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 42 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 CTCCACCTATTCCAGGCTTTT 0.418000 24 2 0 0 0.076483 0 0 COL6A3 1293 broad.mit.edu 37 2 238243486 238243486 + Silent SNP G G A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr2:238243486G>A ENST00000295550.4 - 41 9464 c.9012C>T c.(9010-9012)agC>agT p.S3004S COL6A3_ENST00000472056.1_Silent_p.S2397S|COL6A3_ENST00000353578.4_Silent_p.S2798S|COL6A3_ENST00000346358.4_Silent_p.S2804S|COL6A3_ENST00000347401.3_Silent_p.S2803S|COL6A3_ENST00000409809.1_Silent_p.S2798S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 3004 Fibronectin type-III.|Nonhelical region. 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) GGAGTTTGGCGCTGTTCTCTG 0.483000 13 90 0 0 0.020292 0 0 WAPAL 23063 broad.mit.edu 37 10 88232463 88232463 + Missense_Mutation SNP G G A TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr10:88232463G>A ENST00000298767.5 - 6 2271 c.1799C>T c.(1798-1800)gCa>gTa p.A600V NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 600 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 GGATGGTGGTGCAGGAGCCTT 0.358000 36 28 0 0 0.080422 0 0 SPINK1 6690 broad.mit.edu 37 5 147204248 147204250 + In_Frame_Del DEL GAG GAG - TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr5:147204248_147204250delGAG ENST00000296695.5 - 4 422_424 c.214_216delCTC c.(214-216)del p.L72del NM_003122.3 NP_003113.2 P00995 ISK1_HUMAN serine peptidase inhibitor, Kazal type 1 72 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity endometrium(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTTTTGAATGAGGATAGAAGTC 0.399 Hereditary Pancreatitis 8 85 --- --- --- --- CC2D2B 387707 broad.mit.edu 37 10 97779073 97779076 + Frame_Shift_Del DEL TTGT TTGT - TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr10:97779073_97779076delTTGT ENST00000344386.3 + 7 800_803 c.636_639delTTGT c.(634-639)gafs p.DC212fs ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000371198.2_Intron|CC2D2B_ENST00000410012.2_Frame_Shift_Del_p.DC212fs|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 212 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) AAAGTGTAGATTGTTTGTTTGATG 0.363 9 130 --- --- --- --- INSM2 0 broad.mit.edu 37 14 36003785 36003785 + Frame_Shift_Del DEL C C - TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr14:36003785delC ENST00000307169.3 + 1 538 c.327delC c.(325-327)agfs p.S109fs NM_032594.3 NP_115983.3 Q96T92 INSM2_HUMAN insulinoma-associated 2 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 10 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) ccagccccagccccagtccAG 0.781 3 5 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 3 5 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 954243c2-9440-4e7f-950d-ab48dfe1b570 46642782-ebe5-4fd1-8991-d0ee682f5ab5 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- ---