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 GBF1 8729 broad.mit.edu 37 10 104120022 104120022 + Missense_Mutation SNP G G A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr10:104120022G>A ENST00000369983.3 + 12 1519 c.1259G>A c.(1258-1260)cGc>cAc p.R420H GBF1_ENST00000476019.1_Intron NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 420 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CCACACGACCGCCATAACTCA 0.582000 6 300 0 0 0.001984 0 0 CACNA1D 776 broad.mit.edu 37 3 53757947 53757947 + Missense_Mutation SNP G G A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr3:53757947G>A ENST00000288139.3 + 15 2199 c.2081G>A c.(2080-2082)gGc>gAc p.G694D CACNA1D_ENST00000350061.5_Missense_Mutation_p.G674D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G674D NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 674 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CTGTTTGGCGGCAAGTTTAAT 0.458000 4 179 0 0 0.009096 0 0 SIN3B 23309 broad.mit.edu 37 19 16952630 16952630 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr19:16952630C>T ENST00000379803.1 + 4 447 c.433C>T c.(433-435)Ccg>Tcg p.P145S SIN3B_ENST00000248054.5_Missense_Mutation_p.P145S|SIN3B_ENST00000596802.1_Missense_Mutation_p.P145S NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 145 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GCAGCAGGTGCCGTATAAAGA 0.522000 4 119 0 0 0.000602 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99631796 99631796 + Silent SNP C C T rs147984747 byFrequency TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr7:99631796C>T ENST00000324306.6 + 6 1902 c.1668C>T c.(1666-1668)ggC>ggT p.G556G ZKSCAN1_ENST00000426572.1_Silent_p.G520G|ZKSCAN1_ENST00000535170.1_Silent_p.G343G NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 556 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) ATGCATTTGGCGCGTTCCTGA 0.498000 5 205 0 0 0.000602 0 0 CTNNB1 1499 broad.mit.edu 37 3 41280717 41280717 + Missense_Mutation SNP C C A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr3:41280717C>A ENST00000349496.5 + 15 2510 c.2230C>A c.(2230-2232)Cct>Act p.P744T CTNNB1_ENST00000396183.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P744T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P737T NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 744 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) TGGCCACCACCCTGGTGCTGA 0.557000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 6 90 3.59834e-05 4.87516e-05 0.001168 1 0 TCEB2 6923 broad.mit.edu 37 16 2825510 2825510 + Silent SNP G G A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr16:2825510G>A ENST00000409477.1 - 2 250 c.171C>T c.(169-171)ttC>ttT p.F57F TCEB2_ENST00000409906.4_Silent_p.F62F|TCEB2_ENST00000262306.7_Silent_p.F62F|TCEB2_ENST00000572954.1_Intron Q15370 ELOB_HUMAN transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) 62 Ubiquitin-like. positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|nucleoplasm protein binding endometrium(2)|prostate(1) 3 TTTGACTGGTGAAGCCACACT 0.617000 5 31 0 0 0.001168 0 0 RAD18 56852 broad.mit.edu 37 3 8990195 8990195 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr3:8990195C>T ENST00000264926.2 - 3 309 c.193G>A c.(193-195)Gtg>Atg p.V65M RAD18_ENST00000495087.1_5'UTR NM_020165.3 NP_064550.3 Q9NS91 RAD18_HUMAN RAD18 homolog (S. cerevisiae) 65 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3) 15 OV - Ovarian serous cystadenocarcinoma(96;0.0552) AAACTCACCACACAGCAAGTT 0.338000 Rad6 pathway 4 155 0 0 0.000602 0 0 VIPAS39 63894 broad.mit.edu 37 14 77904217 77904217 + Missense_Mutation SNP T T C TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr14:77904217T>C ENST00000553888.1 - 12 1280 c.770A>G c.(769-771)cAt>cGt p.H257R VIPAS39_ENST00000556412.1_Missense_Mutation_p.H283R|VIPAS39_ENST00000327028.4_Missense_Mutation_p.H244R|VIPAS39_ENST00000343765.2_Missense_Mutation_p.H257R|VIPAS39_ENST00000448935.2_Missense_Mutation_p.H208R|VIPAS39_ENST00000557658.1_Missense_Mutation_p.H257R NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog CTCTCGATAATGAGATAGCTA 0.348000 4 135 0 0 0.000602 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 34 0.004672 0.006132 0.004672 1 0 RASSF1 11186 broad.mit.edu 37 3 50368106 50368106 + Missense_Mutation SNP C C T rs142957899 TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr3:50368106C>T ENST00000359365.4 - 6 1035 c.929G>A c.(928-930)cGg>cAg p.R310Q RASSF1_ENST00000395126.3_Missense_Mutation_p.R159Q|RASSF1_ENST00000357043.2_Missense_Mutation_p.R314Q|RASSF1_ENST00000327761.3_Missense_Mutation_p.R240Q NM_001206957.1|NM_007182.4|NM_170714.1 NP_001193886.1|NP_009113.3|NP_733832.1 Q9NS23 RASF1_HUMAN Ras association (RalGDS/AF-6) domain family member 1 314 SARAH. cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CTCCTCCTCCCGCTGCAGGAT 0.587000 27 90 0 0 0.005443 0 0 SPEF2 79925 broad.mit.edu 37 5 35800129 35800129 + Silent SNP G G A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr5:35800129G>A ENST00000440995.2 + 34 4875 c.4875G>A c.(4873-4875)caG>caA p.Q1625Q SPEF2_ENST00000303129.4_Silent_p.Q427Q|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.Q1630Q Q9C093 SPEF2_HUMAN sperm flagellar 2 1630 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACTACACACAGATGCTGCTTT 0.463000 8 268 0 0 0.004482 0 0 PLCB2 5330 broad.mit.edu 37 15 40585837 40585837 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr15:40585837C>T ENST00000260402.3 - 20 2399 c.2150G>A c.(2149-2151)cGc>cAc p.R717H PLCB2_ENST00000456256.2_Missense_Mutation_p.R717H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R713H NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 717 C2. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) AGTTCGATAGCGCCTCTTGGG 0.582000 4 136 0 0 0.009096 0 0 TRIM51HP 0 broad.mit.edu 37 11 55065705 55065705 + RNA SNP G G A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr11:55065705G>A ENST00000526016.1 - 0 3 NR_038174.2 GATGGGACAGGTGAGTTCCCT 0.483000 4 25 0 0 0.009096 0 0 ABCC6 368 broad.mit.edu 37 16 16256941 16256941 + Missense_Mutation SNP C C T rs63750146 TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr16:16256941C>T ENST00000205557.7 - 24 3444 c.3415G>A c.(3415-3417)Gca>Aca p.A1139T NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1139 ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GTTCGGAATGCCCGGACCACT 0.582000 4 156 0 0 0.000602 0 0 USP40 55230 broad.mit.edu 37 2 234389870 234389870 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr2:234389870C>T ENST00000251722.6 - 31 3692 c.3575G>A c.(3574-3576)cGg>cAg p.R1192Q USP40_ENST00000450966.1_Missense_Mutation_p.R1204Q|USP40_ENST00000427112.2_Missense_Mutation_p.R1192Q Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1192 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CCCCAGGGCCCGTTGTTTCTG 0.453000 3 19 0 0 0.009096 0 0 KLHL40 131377 broad.mit.edu 37 3 42727577 42727577 + Missense_Mutation SNP T T A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr3:42727577T>A ENST00000287777.4 + 1 567 c.467T>A c.(466-468)aTc>aAc p.I156N NM_152393.2 NP_689606.2 kelch-like family member 40 CGCGACTTCATCTGCGCTCAC 0.657000 9 60 0 0 0.006214 0 0 SLIT2 9353 broad.mit.edu 37 4 20259495 20259495 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr4:20259495C>T ENST00000504154.1 + 3 508 c.256C>T c.(256-258)Ctt>Ttt p.L86F SLIT2_ENST00000503837.1_Missense_Mutation_p.L86F|SLIT2_ENST00000503823.1_Missense_Mutation_p.L86F|SLIT2_ENST00000273739.5_Missense_Mutation_p.L86F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 86 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TTTCAGTCAGCTTATGGAGAA 0.333000 5 189 0 0 0.000602 0 0 MCF2L 23263 broad.mit.edu 37 13 113742643 113742643 + Silent SNP G G A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr13:113742643G>A ENST00000397030.1 + 24 2827 c.2790G>A c.(2788-2790)gcG>gcA p.A930A MCF2L_ENST00000375597.4_Silent_p.A895A|MCF2L_ENST00000535094.2_Silent_p.A897A|MCF2L_ENST00000375601.3_Silent_p.A901A|MCF2L_ENST00000434480.2_Silent_p.A903A|MCF2L_ENST00000375604.2_Silent_p.A954A|MCF2L_ENST00000442652.2_Silent_p.A927A|MCF2L_ENST00000423482.2_Silent_p.A895A|MCF2L_ENST00000421756.1_Silent_p.A901A|MCF2L_ENST00000375608.3_Silent_p.A927A O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 927 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GGAAACAGGCGCCAACTCCTG 0.522000 5 187 0 0 0.001168 0 0 RFPL1 5988 broad.mit.edu 37 22 29835022 29835022 + Missense_Mutation SNP G G C TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr22:29835022G>C ENST00000354373.2 + 1 451 c.242G>C c.(241-243)tGt>tCt p.C81S RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 81 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TGCTGTTGCTGTTCCATGGTC 0.517000 42 151 0 0 0.008740 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 26 72 0 0 0.003954 0 0 MYT1L 23040 broad.mit.edu 37 2 1907015 1907015 + Missense_Mutation SNP G G T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr2:1907015G>T ENST00000399161.2 - 14 2616 c.1869C>A c.(1867-1869)aaC>aaA p.N623K MYT1L_ENST00000428368.2_Missense_Mutation_p.N621K NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 623 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TGGGGACATTGTTTCTGTAGC 0.458000 6 43 5.4927e-09 7.68978e-09 0.004482 1 0 ZNF616 90317 broad.mit.edu 37 19 52618688 52618688 + Missense_Mutation SNP A A G TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr19:52618688A>G ENST00000600228.1 - 4 1990 c.1729T>C c.(1729-1731)Tac>Cac p.Y577H ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 577 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TTGCATTTGTAAGGTTTCTCT 0.418000 3 77 0 0 0.004672 0 0 SAA2 6289 broad.mit.edu 37 11 18266989 18266989 + Missense_Mutation SNP T T C TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr11:18266989T>C ENST00000526900.1 - 4 487 c.304A>G c.(304-306)Aaa>Gaa p.K102E SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron serum amyloid A2 p.K102E(2) central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 CTGCCCCATTTATTGGCAGCC 0.572000 3 54 0 0 0.004672 0 0 C3 718 broad.mit.edu 37 19 6682003 6682003 + Silent SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr19:6682003C>T ENST00000245907.6 - 35 4391 c.4299G>A c.(4297-4299)gaG>gaA p.E1433E NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1433 Properdin-binding. 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) CTTTGTCCAGCTCATACTTGG 0.562000 57 169 0 0 0.014410 0 0 WDR73 84942 broad.mit.edu 37 15 85186877 85186894 + In_Frame_Del DEL CTTGGCTCCGTGTTCCAT CTTGGCTCCGTGTTCCAT - rs143462247 TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr15:85186877_85186894delCTTGGCTCCGTGTTCCAT ENST00000434634.2 - 8 1004_1021 c.944_961delATGGAACACGGAGCCAAG c.(943-963)gta>g p.DGTRSQV315del WDR73_ENST00000398528.3_5'UTR NM_032856.2 NP_116245.2 Q6P4I2 WDR73_HUMAN WD repeat domain 73 315 cervix(1)|large_intestine(1)|lung(1) 3 AGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCG 0.509 10 39 --- --- --- ---