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 DNAH3 55567 broad.mit.edu 37 16 21145636 21145636 + Silent SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr16:21145636C>T ENST00000261383.3 - 7 1025 c.1026G>A c.(1024-1026)gaG>gaA p.E342E DNAH3_ENST00000415178.1_Silent_p.E342E NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 342 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGTGCAGATGCTCCTCGTTCC 0.517000 49 75 0 0 1 0 0 RNF19B 127544 broad.mit.edu 37 1 33411115 33411115 + Splice_Site SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr1:33411115C>T ENST00000356990.5 - 5 1260 c.1261_splice c.e5+1 p.G421_splice RNF19B_ENST00000235150.4_Splice_Site_p.G421_splice|RNF19B_ENST00000373456.7_Splice_Site_p.G422_splice NM_001127361.1 NP_001120833.1 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 422 integral to membrane ligase activity|protein binding|zinc ion binding p.G231C(1)|p.G421C(1) endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACTAGCTTACCAACACTAACT 0.463000 12 13 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1636832 1636832 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr17:1636832C>T ENST00000409644.1 + 7 4501 c.4501C>T c.(4501-4503)Cgg>Tgg p.R1501W RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.R274W|WDR81_ENST00000309182.5_Missense_Mutation_p.R450W|WDR81_ENST00000446363.1_Missense_Mutation_p.R140W|WDR81_ENST00000545662.1_Missense_Mutation_p.R132W|WDR81_ENST00000437219.2_Missense_Mutation_p.R298W NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 274 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGACATCATCCGGAAAATCAT 0.612000 52 94 0 0 1 0 0 ZMYND12 84217 broad.mit.edu 37 1 42905687 42905687 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr1:42905687C>T ENST00000372565.3 - 4 703 c.434G>A c.(433-435)cGa>cAa p.R145Q ZMYND12_ENST00000433602.2_Missense_Mutation_p.R35Q NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 145 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGAACGATTCGGCCCAGACC 0.433000 29 13 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188128 152188128 + Nonsense_Mutation SNP G G A TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr1:152188128G>A ENST00000368801.2 - 3 6052 c.5977C>T c.(5977-5979)Cga>Tga p.R1993* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1993 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGAGACTCTCGGTGACCTAAG 0.572000 8 484 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 3 33 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41268826 41268826 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr3:41268826C>T ENST00000349496.5 + 7 1344 c.1064C>T c.(1063-1065)cCg>cTg p.P355L CTNNB1_ENST00000396183.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P355L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P348L NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 355 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) AGTAATAAGCCGGCTATTGTA 0.378000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 24 35 0 0 1 0 0 GSTA1 2938 broad.mit.edu 37 6 52656723 52656723 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr6:52656723C>T ENST00000334575.5 - 7 757 c.602G>A c.(601-603)gGc>gAc p.G201D GSTA1_ENST00000493331.1_5'UTR NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 201 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) CCTTGGGCTGCCAGGCTGTAG 0.468000 41 72 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7350230 7350230 + Missense_Mutation SNP G G C TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr17:7350230G>C ENST00000306071.2 + 4 389 c.322G>C c.(322-324)Gtg>Ctg p.V108L CHRNB1_ENST00000576360.1_Missense_Mutation_p.V36L|CHRNB1_ENST00000536404.2_Missense_Mutation_p.V36L NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 108 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) GGCGGAATCCGTGTGGCTCCC 0.677000 4 14 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26377303 26377303 + Silent SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr10:26377303C>T ENST00000265944.5 + 15 1697 c.1531C>T c.(1531-1533)Ctg>Ttg p.L511L MYO3A_ENST00000543632.1_Silent_p.L511L NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 511 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TGAATATCTCCTGGAAAAATC 0.343000 25 36 0 0 1 0 0 HENMT1 113802 broad.mit.edu 37 1 109193008 109193008 + Missense_Mutation SNP G G A TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr1:109193008G>A ENST00000370032.5 - 7 1001 c.581C>T c.(580-582)gCt>gTt p.A194V HENMT1_ENST00000370031.1_Missense_Mutation_p.A194V|HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.A194V NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 194 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 CACATATAAAGCCCTGAAACC 0.413000 21 11 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32476004 32476004 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr2:32476004C>T ENST00000404025.2 - 5 1417 c.929G>A c.(928-930)cGa>cAa p.R310Q NLRC4_ENST00000360906.5_Missense_Mutation_p.R310Q|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R310Q Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 310 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CAGCACTTCTCGGATGAGAGC 0.532000 4 66 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113403651 113403651 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr12:113403651C>T ENST00000228928.7 + 12 2685 c.2506C>T c.(2506-2508)Cgg>Tgg p.R836W RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 836 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GGGCAACAAGCGGGCCGAGAT 0.592000 8 11 0 0 1 0 0 INTS9 55756 broad.mit.edu 37 8 28628505 28628505 + Missense_Mutation SNP C C A TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr8:28628505C>A ENST00000416984.2 - 14 1952 c.1593G>T c.(1591-1593)ttG>ttT p.L531F INTS9_ENST00000521777.1_Missense_Mutation_p.L528F|INTS9_ENST00000521022.1_Missense_Mutation_p.L552F|INTS9_ENST00000397363.4_Missense_Mutation_p.L446F NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 552 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CTACCTGAAGCAAGTGCTTGT 0.532000 3 26 1 1 1 1 0 ATP8A1 10396 broad.mit.edu 37 4 42524203 42524203 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr4:42524203C>T ENST00000381668.5 - 22 2152 c.1921G>A c.(1921-1923)Gaa>Aaa p.E641K ATP8A1_ENST00000264449.10_Missense_Mutation_p.E626K NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 641 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TAACTCTCTTCGAGTTTGAGT 0.428000 3 39 0 0 1 0 0 PPP2R2A 5520 broad.mit.edu 37 8 26196411 26196411 + Missense_Mutation SNP A A G TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr8:26196411A>G ENST00000380737.3 + 3 417 c.88A>G c.(88-90)Ata>Gta p.I30V PPP2R2A_ENST00000523473.1_3'UTR|PPP2R2A_ENST00000315985.7_Missense_Mutation_p.I40V NM_002717.3 NP_002708.1 protein phosphatase 2, regulatory subunit B, alpha kidney(1)|large_intestine(2)|ovary(1) 4 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) TACAGCAGATATAATTTCTAC 0.353000 21 34 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6697472 6697472 + Silent SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr19:6697472C>T ENST00000245907.6 - 21 2771 c.2679G>A c.(2677-2679)tcG>tcA p.S893S NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 893 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GAACGGACAACGAGGACTTGG 0.572000 6 52 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19505646 19505646 + Missense_Mutation SNP A A C TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr16:19505646A>C ENST00000396229.2 + 20 3638 c.2889A>C c.(2887-2889)aaA>aaC p.K963N TMC5_ENST00000564959.1_Missense_Mutation_p.K646N|TMC5_ENST00000561503.1_Missense_Mutation_p.K604N|TMC5_ENST00000542583.2_Missense_Mutation_p.K963N|TMC5_ENST00000541464.1_Missense_Mutation_p.K911N|TMC5_ENST00000381414.4_Missense_Mutation_p.K905N|TMC5_ENST00000219821.5_Missense_Mutation_p.K717N NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 963 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TGGAGAAGAAAGCAAACCCCA 0.458000 8 100 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 46 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142639988 142639988 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr7:142639988C>T ENST00000355265.2 - 17 2389 c.1915G>A c.(1915-1917)Gtt>Att p.V639I NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 639 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AGCCCCCCAACGTCTGCAGCA 0.507000 14 71 0 0 1 0 0 PAK6 56924 broad.mit.edu 37 15 40564858 40564858 + Missense_Mutation SNP G G A TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr15:40564858G>A ENST00000455577.2 + 6 2204 c.1292G>A c.(1291-1293)cGc>cAc p.R431H PAK6_ENST00000560346.1_Missense_Mutation_p.R431H|PAK6_ENST00000260404.4_Missense_Mutation_p.R431H|PAK6_ENST00000453867.1_Missense_Mutation_p.R431H|PAK6_ENST00000542403.2_Missense_Mutation_p.R431H|PAK6_ENST00000441369.1_Missense_Mutation_p.R431H|RP11-133K1.2_ENST00000558658.1_3'UTR NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 431 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CACTCGGGCCGCCAGGTGGCC 0.662000 11 11 0 0 1 0 0 OXGR1 27199 broad.mit.edu 37 13 97639064 97639064 + Missense_Mutation SNP A A C TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr13:97639064A>C ENST00000298440.1 - 4 1193 c.950T>G c.(949-951)gTg>gGg p.V317G OXGR1_ENST00000543457.1_Missense_Mutation_p.V317G NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 317 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) TTTGCATCTCACTGTTGAGCA 0.398000 33 62 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178417025 178417025 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr2:178417025C>T ENST00000408939.2 - 1 717 c.467G>A c.(466-468)gGc>gAc p.G156D NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 156 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GTTGATCTGGCCATCGGTCTC 0.592000 6 277 0 0 1 0 0 GRM8 0 broad.mit.edu 37 7 126079206 126079206 + Silent SNP T T C TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr7:126079206T>C ENST00000339582.2 - 11 3502 c.2694A>G c.(2692-2694)acA>acG p.T898T GRM8_ENST00000444921.2_Silent_p.T898T|GRM8_ENST00000358373.3_3'UTR O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 898 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGATATATGTTGTCTTGGTAG 0.308000 HNSCC(24;0.065) 48 65 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee 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 25 36 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 5 49 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28925751 28925751 + Missense_Mutation SNP T T C TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr16:28925751T>C ENST00000358201.4 - 5 1288 c.700A>G c.(700-702)Atc>Gtc p.I234V RABEP2_ENST00000544477.1_Missense_Mutation_p.I163V|RABEP2_ENST00000357573.6_Missense_Mutation_p.I234V NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 234 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 AAGGAGGAGATGGAGGCGCTG 0.682000 10 15 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160788073 160788073 + Missense_Mutation SNP A A G TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr1:160788073A>G ENST00000263285.5 + 6 1438 c.1408A>G c.(1408-1410)Atc>Gtc p.I470V LY9_ENST00000368041.2_Missense_Mutation_p.I340V|LY9_ENST00000368035.1_Missense_Mutation_p.I122V|LY9_ENST00000341032.4_Missense_Mutation_p.I380V|LY9_ENST00000368040.1_Missense_Mutation_p.I122V NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 470 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GTGCGTTGGGATCTTCAGCTG 0.478000 5 100 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57087848 57087848 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr11:57087848C>T ENST00000532437.1 - 2 744 c.433G>A c.(433-435)Gcc>Acc p.A145T TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A145T Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 145 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GGGGCAGGGGCCTTCCGTACA 0.647000 31 47 0 0 1 0 0 HOXA9 3205 broad.mit.edu 37 7 27204770 27204770 + Missense_Mutation SNP G G C TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr7:27204770G>C ENST00000343483.6 - 1 379 c.307C>G c.(307-309)Ccg>Gcg p.P103A RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000396345.1_Missense_Mutation_p.P103A NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 103 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 CTGCCGTCCGGCGCCGCCGCC 0.711000 T """NUP98, MSI2""" AML* 9 14 0 0 1 0 0 SP140L 93349 broad.mit.edu 37 2 231249985 231249985 + Silent SNP G G A TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr2:231249985G>A ENST00000243810.6 + 9 750 c.750G>A c.(748-750)gcG>gcA p.A250A SP140L_ENST00000444636.1_Silent_p.A250A|SP140L_ENST00000396563.4_Silent_p.A250A|SP140L_ENST00000415673.2_Silent_p.A250A Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 250 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 AAAAGAAGGCGAACATGAATC 0.448000 23 32 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56223200 56223200 + Silent SNP A A G rs149437621 byFrequency TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr19:56223200A>G ENST00000332836.2 - 8 2836 c.2809T>C c.(2809-2811)Ttg>Ctg p.L937L NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 937 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GGGTGGCTCAATGCCTCACAC 0.562000 3 25 0 0 1 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99338034 99338034 + Missense_Mutation SNP T T C TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr4:99338034T>C ENST00000408927.3 + 8 1015 c.902T>C c.(901-903)cTt>cCt p.L301P RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L302P|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L252P|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L210P|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L253P|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L302P NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 301 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TTATTACTTCTTGGAGGTGAG 0.348000 T NUP98 T-ALL 6 90 0 0 1 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67211953 67211953 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr16:67211953C>T ENST00000290881.7 - 7 2137 c.1211G>A c.(1210-1212)cGc>cAc p.R404H KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R404H|KIAA0895L_ENST00000561679.1_Missense_Mutation_p.R249H|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.A401T Q68EN5 K895L_HUMAN KIAA0895-like 404 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 GATGGTCTGGCGATGTCGCAG 0.632000 8 15 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67077742 67077742 + Missense_Mutation SNP A A G TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr11:67077742A>G ENST00000308127.4 + 13 1793 c.1615A>G c.(1615-1617)Agg>Ggg p.R539G SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 539 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AGGGGTCATGAGGTCCATCAG 0.617000 4 77 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67433014 67433014 + Missense_Mutation SNP G G A TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr11:67433014G>A ENST00000349015.3 - 7 886 c.448C>T c.(448-450)Cgc>Tgc p.R150C ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R150C NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 150 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase p.R150C(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) CAGGCCACGCGGTTGGCCACG 0.667000 51 131 0 0 1 0 0 SRSF6 6431 broad.mit.edu 37 20 42088683 42088683 + Missense_Mutation SNP G G T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr20:42088683G>T ENST00000244020.3 + 4 498 c.392G>T c.(391-393)cGa>cTa p.R131L NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 131 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 GATTTTATGCGACAAGCAGGT 0.393000 4 60 0.00909568 0.0092581 1 1 0 ZNF285 26974 broad.mit.edu 37 19 44890648 44890648 + Missense_Mutation SNP T T C TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr19:44890648T>C ENST00000330997.4 - 4 1823 c.1759A>G c.(1759-1761)Aga>Gga p.R587G CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.R594G|ZNF285_ENST00000544719.2_Missense_Mutation_p.R587G NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 AATGTTTCTCTCTGCTCATGT 0.433000 3 32 0 0 1 0 0 TMUB2 79089 broad.mit.edu 37 17 42268191 42268191 + Missense_Mutation SNP G G A rs139203660 TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr17:42268191G>A ENST00000319511.6 + 3 1515 c.865G>A c.(865-867)Gtc>Atc p.V289I TMUB2_ENST00000538716.2_Missense_Mutation_p.V309I|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.V309I|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000446571.3_Missense_Mutation_p.V252I|TMUB2_ENST00000357984.3_Missense_Mutation_p.V289I|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.V289I NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 309 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GGGAGTCACCGTCTTCTTCAG 0.498000 11 89 0 0 1 0 0 NAT8 9027 broad.mit.edu 37 2 73868602 73868602 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr2:73868602C>T ENST00000272425.3 - 2 303 c.154G>A c.(154-156)Gcc>Acc p.A52T NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 52 gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 AGGAGTAGGGCGAGGGGCCCC 0.612000 38 52 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92730801 92730801 + Missense_Mutation SNP T T C TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr7:92730801T>C ENST00000379958.2 - 3 4879 c.4610A>G c.(4609-4611)aAt>aGt p.N1537S NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1537 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ATATAAACAATTGTTTTCAGC 0.383000 14 45 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237240097 237240097 + Missense_Mutation SNP G G A TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr2:237240097G>A ENST00000409907.3 - 18 2552 c.2278C>T c.(2278-2280)Cgg>Tgg p.R760W IQCA1_ENST00000309507.5_Missense_Mutation_p.R757W|IQCA1_ENST00000431676.2_Missense_Mutation_p.R719W Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 760 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 ATTTGCCGCCGGATTCTCTGA 0.473000 7 121 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124664296 124664296 + Missense_Mutation SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr8:124664296C>T ENST00000325995.7 - 1 894 c.871G>A c.(871-873)Gga>Aga p.G291R CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 291 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 TCCTTCCTTCCGCCCAAGAGG 0.542000 15 57 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 82892059 82892059 + Silent SNP G G A TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr16:82892059G>A ENST00000566620.1 + 2 428 c.138G>A c.(136-138)gaG>gaA p.E46E CDH13_ENST00000567445.1_Silent_p.E46E|CDH13_ENST00000431540.3_Silent_p.E46E|CDH13_ENST00000268613.10_Silent_p.E93E|CDH13_ENST00000565636.1_Silent_p.E46E|CDH13_ENST00000428848.3_Silent_p.E46E|CDH13_ENST00000446376.2_Silent_p.E46E NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 46 adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) AATTCATTGAGGACCAGTCAA 0.393000 3 16 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74000833 74000833 + Splice_Site SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr4:74000833C>T ENST00000358602.4 - 16 3351 c.e16+1 ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site|ANKRD17_ENST00000514252.1_Splice_Site NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTGGGACTTACCTGTGCATCA 0.393000 29 36 0 0 1 0 0 MED8 112950 broad.mit.edu 37 1 43850142 43850143 + Frame_Shift_Ins INS - - T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr1:43850142_43850143insT ENST00000290663.6 - 8 927_928 c.884_885insA c.(883-885)agcfs p.S295fs MED8_ENST00000372457.4_3'UTR NM_052877.3 NP_443109.2 Q96G25 MED8_HUMAN mediator complex subunit 8 0 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 9 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCAGGTGGGCATTTTTTTTTCC 0.510 3 3 --- --- --- --- FUBP1 8880 broad.mit.edu 37 1 78425910 78425910 + Frame_Shift_Del DEL T T - TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr1:78425910delT ENST00000370767.1 - 16 1622 c.1535delA c.(1534-1536)atfs p.N512fs FUBP1_ENST00000370768.2_Frame_Shift_Del_p.N512fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.N533fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 512 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TGGATATGCATTTCCCCATCC 0.438 """F, N""" oligodendroglioma 25 13 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 7 186 --- --- --- --- KIF13A 63971 broad.mit.edu 37 6 17852203 17852203 + Frame_Shift_Del DEL C C - TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr6:17852203delC ENST00000378814.5 - 7 564 c.565delG c.(565-567)ctfs p.A189fs KIF13A_ENST00000378826.2_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000259711.6_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.A189fs NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 189 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CTAGTGACAGCTAGTTGAGAT 0.333 2 4 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226819 65226819 + RNA DEL A A - TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr7:65226819delA ENST00000442266.1 + 0 1167 AATGGGGACCAAAAAAAAAAT 0.353 2 4 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42796882 42796883 + Frame_Shift_Ins INS - - C TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chr19:42796882_42796883insC ENST00000572681.2 + 15 6132_6133 c.6064_6065insC c.(6064-6066)cccfs p.P2022fs CIC_ENST00000160740.3_Frame_Shift_Ins_p.P1113fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.P1114fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.S1117fs*34(1) 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) GCCATCCCAGGCCCCCCCAAGC 0.683 """Mis, F, S""" oligodendroglioma 36 32 --- --- --- --- ZBTB33 10009 broad.mit.edu 37 X 119389238 119389239 + Frame_Shift_Del DEL TG TG - TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 021bf1e7-5402-4760-8483-90da0f9656f7 c3c498b4-dc24-4a01-979b-e3a01156d4ee g.chrX:119389238_119389239delTG ENST00000326624.2 + 2 2196_2197 c.1968_1969delTG c.(1966-1971)aatafs p.NV656fs ZBTB33_ENST00000557385.1_Frame_Shift_Del_p.NV656fs NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 656 Interaction with CTNND1 (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTAAACAAAATGTAACAGATGG 0.361 7 50 --- --- --- ---