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 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 4 59 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46543102 46543102 + Missense_Mutation SNP C C T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr13:46543102C>T ENST00000242848.4 - 14 3925 c.3577G>A c.(3577-3579)Ggg>Agg p.G1193R ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1193R|ZC3H13_ENST00000378921.2_Missense_Mutation_p.G149R Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1193 Ser-rich. nucleic acid binding|zinc ion binding p.G1193W(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CGATTGCTCCCGAGGCTGCTG 0.507000 7 184 0 0 1 0 0 C14orf105 55195 broad.mit.edu 37 14 57947418 57947418 + Missense_Mutation SNP T T A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr14:57947418T>A ENST00000216445.3 - 5 686 c.550A>T c.(550-552)Agt>Tgt p.S184C C14orf105_ENST00000422976.2_Missense_Mutation_p.S183C|C14orf105_ENST00000534126.1_Missense_Mutation_p.S183C NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 184 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 TCCCTTGGACTTTGCTTATTA 0.403000 10 74 0 0 1 0 0 RP11-64J4.2 0 broad.mit.edu 37 17 3213981 3213981 + RNA SNP A A C TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr17:3213981A>C ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA TATGACCGCTATCTGGCCATC 0.562000 31 66 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185988674 185988674 + Splice_Site SNP T T G TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr1:185988674T>G ENST00000271588.4 + 35 5701 c.5470_splice c.e35-1 p.V1824_splice HMCN1_ENST00000367492.2_Splice_Site_p.V1824_splice NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1824 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TAAATATAGTTCCTCCAACAA 0.403000 10 58 0 0 1 0 0 C14orf105 55195 broad.mit.edu 37 14 57947420 57947420 + Missense_Mutation SNP T T G TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr14:57947420T>G ENST00000216445.3 - 5 684 c.548A>C c.(547-549)cAa>cCa p.Q183P C14orf105_ENST00000422976.2_Missense_Mutation_p.Q182P|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q182P NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 183 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 CCTTGGACTTTGCTTATTAAT 0.393000 10 73 0 0 1 0 0 SLC43A1 8501 broad.mit.edu 37 11 57259302 57259302 + Missense_Mutation SNP G G A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr11:57259302G>A ENST00000278426.3 - 9 1260 c.905C>T c.(904-906)cCc>cTc p.P302L SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.P302L NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 302 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CAGGAAAGTGGGGGAGCAGAG 0.602000 OREG0020651 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 47 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50484310 50484310 + Silent SNP G G A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr22:50484310G>A ENST00000266182.6 - 5 482 c.483C>T c.(481-483)acC>acT p.T161T TTLL8_ENST00000440475.1_Silent_p.T161T tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) GCTCACTCTCGGTGCAGAGGC 0.617000 4 9 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17488042 17488042 + Missense_Mutation SNP C C T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr19:17488042C>T ENST00000252590.4 - 1 117 c.56G>A c.(55-57)cGg>cAg p.R19Q NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 19 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCAGCAGCCCCGAGAGCTGCC 0.622000 44 76 0 0 1 0 0 IRAK3 0 broad.mit.edu 37 12 66641820 66641820 + Missense_Mutation SNP T T G TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr12:66641820T>G ENST00000261233.4 + 12 2081 c.1660T>G c.(1660-1662)Tta>Gta p.L554V IRAK3_ENST00000457197.2_Missense_Mutation_p.L493V NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 554 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) ATCCCAGGACTTAAGGCCCTA 0.458000 57 81 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56699384 56699384 + Silent SNP A A T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr8:56699384A>T ENST00000260129.5 + 4 1404 c.927A>T c.(925-927)acA>acT p.T309T NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 309 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) GCTCTGGTACAAGTGATAAGG 0.343000 15 35 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32521666 32521666 + RNA SNP T T C rs117454723 by1000genomes TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr6:32521666T>C ENST00000411500.1 - 0 817 NR_001298.1 AACAGCCCTGTCCCAAGGAAG 0.507000 3 20 0 0 1 0 0 POP1 10940 broad.mit.edu 37 8 99142398 99142398 + Missense_Mutation SNP A A G TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr8:99142398A>G ENST00000401707.2 + 5 760 c.679A>G c.(679-681)Aca>Gca p.T227A POP1_ENST00000349693.3_Missense_Mutation_p.T227A NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 227 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GGAGAGGCCAACAGTCAAGAG 0.498000 5 70 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity p.S173N(4) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TCATCTCGCAGTGCAAGGAAA 0.458000 3 46 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160741690 160741690 + Missense_Mutation SNP G G T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr2:160741690G>T ENST00000263636.4 - 6 1055 c.1028C>A c.(1027-1029)cCa>cAa p.P343Q LY75_ENST00000554112.1_Missense_Mutation_p.P343Q|LY75_ENST00000553424.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P343Q NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) ATTATTTAATGGTTTCCTGCA 0.398000 34 52 6.90743e-12 7.87125e-12 1 1 0 DOCK11 139818 broad.mit.edu 37 X 117744241 117744241 + Nonsense_Mutation SNP C C T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chrX:117744241C>T ENST00000276204.6 + 28 3030 c.2956C>T c.(2956-2958)Cga>Tga p.R986* DOCK11_ENST00000276202.7_Nonsense_Mutation_p.R986* Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 986 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TCAGCTTCCCCGAGGCCAGAG 0.383000 35 49 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37306396 37306396 + Nonsense_Mutation SNP G G A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr2:37306396G>A ENST00000233099.5 - 3 300 c.205C>T c.(205-207)Cga>Tga p.R69* HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R69* NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 69 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) AATAATTTTCGTGTAGGTGGT 0.313000 13 27 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46652877 46652877 + Nonsense_Mutation SNP C C A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr22:46652877C>A ENST00000253255.5 - 1 6342 c.6343G>T c.(6343-6345)Gaa>Taa p.E2115* NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2115 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TAGTTCCATTCATGCTGACCA 0.443000 3 33 1 1 1 1 0 BGN 633 broad.mit.edu 37 X 152773797 152773797 + Missense_Mutation SNP G G A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chrX:152773797G>A ENST00000331595.4 + 8 1187 c.1001G>A c.(1000-1002)gGc>gAc p.G334D BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.G273D NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 334 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TACTACAACGGCATCAGCCTC 0.577000 4 173 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102600 22102600 + Missense_Mutation SNP C C A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr14:22102600C>A ENST00000542433.1 - 1 496 c.399G>T c.(397-399)caG>caT p.Q133H NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) AGTGCAGGGGCTGACATATTG 0.552000 16 7 2.23348e-06 2.43202e-06 1 1 0 PHKA2 5256 broad.mit.edu 37 X 18936876 18936876 + Missense_Mutation SNP C C T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chrX:18936876C>T ENST00000379942.4 - 19 2725 c.2060G>A c.(2059-2061)cGc>cAc p.R687H NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 687 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) GAAGACATGGCGGTCTTCTGT 0.448000 43 76 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189045 50189045 + Silent SNP G G A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr12:50189045G>A ENST00000335999.6 - 8 2799 c.2598C>T c.(2596-2598)ggC>ggT p.G866G NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 862 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GGTCAGTGGGGCCAGGTACTA 0.637000 4 93 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 19 24 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10672385 10672385 + Missense_Mutation SNP G G A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr19:10672385G>A ENST00000312962.6 - 6 483 c.464C>T c.(463-465)tCg>tTg p.S155L KRI1_ENST00000361821.5_Missense_Mutation_p.S151L|KRI1_ENST00000537964.1_5'UTR NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 155 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) ACTTTGCGACGATGTCTCCTG 0.607000 6 140 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30938455 30938455 + Silent SNP T T C TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr11:30938455T>C ENST00000597505.1 - 24 3413 c.3414A>G c.(3412-3414)aaA>aaG p.K1138K DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Silent_p.K217K P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction p.K217K(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CAAAGAGCCCTTTTTCCGTTT 0.413000 3 53 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185988673 185988673 + Splice_Site SNP T T A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr1:185988673T>A ENST00000271588.4 + 35 5700 c.5470_splice c.e35-1 p.V1824_splice HMCN1_ENST00000367492.2_Splice_Site_p.V1824_splice NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1824 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTAAATATAGTTCCTCCAACA 0.403000 10 58 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101627180 101627180 + Silent SNP T T C TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr5:101627180T>C ENST00000310954.6 - 2 772 c.486A>G c.(484-486)gtA>gtG p.V162V NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 162 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CAAAGAATGATACAAATAAAG 0.398000 5 27 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46793156 46793156 + Missense_Mutation SNP T T C TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr6:46793156T>C ENST00000230588.4 + 8 713 c.704T>C c.(703-705)tTt>tCt p.F235S NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 235 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) ATCCCTGAGTTTAACTCCATT 0.428000 18 39 0 0 1 0 0 CXorf38 159013 broad.mit.edu 37 X 40495933 40495933 + Missense_Mutation SNP G G A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chrX:40495933G>A ENST00000378426.1 - 4 893 c.296C>T c.(295-297)cCc>cTc p.P99L CXorf38_ENST00000378421.1_Missense_Mutation_p.P99L|CXorf38_ENST00000327877.5_Missense_Mutation_p.P218L|CXorf38_ENST00000440784.2_Missense_Mutation_p.P133L Q8TB03 CX038_HUMAN chromosome X open reading frame 38 218 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 12 ATCTTCCTCGGGGATGTGAAC 0.423000 9 13 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27303351 27303351 + Missense_Mutation SNP G G T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr8:27303351G>T ENST00000397501.1 + 29 3063 c.2255G>T c.(2254-2256)aGc>aTc p.S752I PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000544172.1_Missense_Mutation_p.S752I|PTK2B_ENST00000397497.4_Intron|PTK2B_ENST00000346049.5_Missense_Mutation_p.S752I|PTK2B_ENST00000338238.4_Intron NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 752 Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) ACGCTCACCAGCCCTATGGAG 0.542000 5 137 1.23904e-05 1.29177e-05 1 1 0 HMCN1 83872 broad.mit.edu 37 1 185988675 185988675 + Missense_Mutation SNP C C T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr1:185988675C>T ENST00000271588.4 + 35 5702 c.5473C>T c.(5473-5475)Cct>Tct p.P1825S HMCN1_ENST00000367492.2_Missense_Mutation_p.P1825S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1825 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AAATATAGTTCCTCCAACAAT 0.403000 10 58 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98943528 98943528 + Missense_Mutation SNP G G T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr8:98943528G>T ENST00000254898.5 + 3 721 c.490G>T c.(490-492)Gtc>Ttc p.V164F MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.V164F|MATN2_ENST00000520016.1_Missense_Mutation_p.V164F|MATN2_ENST00000524308.1_Missense_Mutation_p.V164F NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 164 VWFA 1. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TGTGCCACGGGTCATAATGAT 0.607000 12 23 4.36969e-10 4.86625e-10 1 1 0 KIAA1407 57577 broad.mit.edu 37 3 113724396 113724396 + Missense_Mutation SNP C C A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr3:113724396C>A ENST00000295878.3 - 10 1973 c.1827G>T c.(1825-1827)aaG>aaT p.K609N KIAA1407_ENST00000545063.1_Missense_Mutation_p.K440N NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 609 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CTTCTCTGGGCTTTGACAGCA 0.502000 7 82 5.18039e-06 5.51824e-06 1 1 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 60 0 0 1 0 0 TBC1D27 0 broad.mit.edu 37 17 16829265 16829265 + RNA SNP G G A TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr17:16829265G>A ENST00000261651.2 - 0 3115 GATTTCTTTGGGGACAGCAGG 0.582000 3 6 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95556791 95556791 + Missense_Mutation SNP T T C TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr10:95556791T>C ENST00000371418.4 + 8 1165 c.905T>C c.(904-906)cTg>cCg p.L302P LGI1_ENST00000542308.1_Missense_Mutation_p.L254P|LGI1_ENST00000371413.3_Intron NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 302 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) GTGGCCCAGCTGTTTGGTGGC 0.393000 41 73 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148009497 148009497 + Missense_Mutation SNP C C T TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr1:148009497C>T ENST00000369219.1 - 16 1826 c.1810G>A c.(1810-1812)Gat>Aat p.D604N Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 604 NBPF 7. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TCTTTCTCATCCAACAGCTCC 0.478000 20 164 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24199150 24199150 + Silent SNP G G A rs145453785 byFrequency TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr8:24199150G>A ENST00000265769.4 + 16 1820 c.1710G>A c.(1708-1710)tcG>tcA p.S570S RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.S317S|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 570 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.S570S(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AAGGTGGGTCGGATAATTTGC 0.413000 7 108 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27088645 27088646 + Frame_Shift_Del DEL TA TA - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr1:27088645_27088646delTA ENST00000324856.7 + 7 2625_2626 c.2254_2255delTA c.(2254-2256)tfs p.Y752fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y752fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y369fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 752 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ACAAATAGGTTATATGCAGAGG 0.480 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 66 --- --- --- --- GNAI3 2773 broad.mit.edu 37 1 110121875 110121876 + Frame_Shift_Ins INS - - G TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr1:110121875_110121876insG ENST00000369851.4 + 4 463_464 c.353_354insG c.(352-354)gatfs p.D118fs NM_006496.3 NP_006487.1 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 118 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) GAAGAAGGAGTCATGACTCCAG 0.446 7 55 --- --- --- --- ARIH2 10425 broad.mit.edu 37 3 49004696 49004701 + In_Frame_Del DEL GGCGTG GGCGTG - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr3:49004696_49004701delGGCGTG ENST00000356401.4 + 6 865_870 c.526_531delGGCGTG c.(526-531)del p.GV180del ARIH2_ENST00000449376.1_In_Frame_Del_p.GV180del|ARIH2_ENST00000490095.1_3'UTR NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 180 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) CGTCAAGGACGGCGTGGGCGTGGGTG 0.476 7 60 --- --- --- --- SERPINB9 5272 broad.mit.edu 37 6 2900835 2900836 + Frame_Shift_Del DEL AG AG - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr6:2900835_2900836delAG ENST00000380698.4 - 2 99_100 c.10_11delCT c.(10-12)tfs p.L4fs NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 4 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) TGCATTAGAAAGAGTTTCCATG 0.436 16 161 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 712394 712397 + Frame_Shift_Del DEL AAAC AAAC - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr9:712394_712397delAAAC ENST00000382303.1 + 7 2280_2283 c.1628_1631delAAAC c.(1627-1632)gafs p.ET543fs KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Frame_Shift_Del_p.ET385fs|KANK1_ENST00000382297.2_Frame_Shift_Del_p.ET543fs NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 543 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) ACCTCCGTGGAAACAAACAGTGTA 0.515 7 90 --- --- --- --- CBX5 23468 broad.mit.edu 37 12 54651393 54651393 + Frame_Shift_Del DEL T T - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr12:54651393delT ENST00000209875.4 - 2 178 c.42delA c.(40-42)tcfs p.S14fs CBX5_ENST00000439541.2_Frame_Shift_Del_p.S14fs|CBX5_ENST00000550411.1_Frame_Shift_Del_p.S14fs NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 14 Poly-Ser. blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 CCTCATCCTCTGAAGAAGAAC 0.502 40 81 --- --- --- --- NAA16 79612 broad.mit.edu 37 13 41943360 41943362 + In_Frame_Del DEL GAA GAA - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr13:41943360_41943362delGAA ENST00000379406.3 + 15 2212_2214 c.1888_1890delGAA c.(1888-1890)del p.E634del NAA16_ENST00000497143.1_3'UTR NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 634 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding p.E630D(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 aaaaagagatgaagaagaagaag 0.345 17 49 --- --- --- --- MAP3K14 9020 broad.mit.edu 37 17 43344891 43344893 + RNA DEL CTC CTC - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr17:43344891_43344893delCTC ENST00000344686.2 - 0 2311_2313 MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 ACATCCCAGACTCCTCCTTGCTC 0.611 7 10 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795197 42795198 + Frame_Shift_Del DEL TG TG - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chr19:42795197_42795198delTG ENST00000572681.2 + 11 5072_5073 c.5004_5005delTG c.(5002-5007)actcfs p.TV1668fs CIC_ENST00000575354.2_Frame_Shift_Del_p.TV759fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TV759fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 759 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CGCCTGCCACTGTCACTAACCT 0.668 """Mis, F, S""" oligodendroglioma 17 17 --- --- --- --- ARMCX2 9823 broad.mit.edu 37 X 100910841 100910844 + Frame_Shift_Del DEL ATAG ATAG - TCGA-P5-A77W-01A-11D-A32B-08 TCGA-P5-A77W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d366d4-b18f-44b3-9e4e-fc49e38c5601 5e92215f-5cb4-459d-91fa-0b0026d14be5 g.chrX:100910841_100910844delATAG ENST00000328766.5 - 5 2184_2187 c.1731_1734delCTAT c.(1729-1734)atfs p.IY577fs ARMCX2_ENST00000356824.4_Frame_Shift_Del_p.IY577fs|ARMCX2_ENST00000330154.2_Frame_Shift_Del_p.IY577fs NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 577 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 TGAGATTGTCATAGATAATCTCAA 0.348 9 108 --- --- --- ---