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 C11orf65 160140 broad.mit.edu 37 11 108332225 108332225 + Missense_Mutation SNP T T C TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr11:108332225T>C ENST00000525729.1 - 2 131 c.62A>G c.(61-63)cAg>cGg p.Q21R C11orf65_ENST00000529391.1_Missense_Mutation_p.Q21R|C11orf65_ENST00000393084.1_Missense_Mutation_p.Q21R Q8NCR3 CK065_HUMAN chromosome 11 open reading frame 65 21 endometrium(1)|large_intestine(3)|lung(4)|ovary(2) 10 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) TTTCCAGGCCTGCTGAATGAC 0.299000 3 79 0 0 1 0 0 PGBD2 0 broad.mit.edu 37 1 249211398 249211398 + Silent SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr1:249211398C>A ENST00000539153.1 + 4 861 c.606C>A c.(604-606)ccC>ccA p.P202P PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Silent_p.P205P Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 205 p.P205P(1) NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AAACCTCTCCCGATTCACATC 0.398000 4 203 0.150653 0.165233 1 1 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 30 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15893509 15893509 + Missense_Mutation SNP G G A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr21:15893509G>A ENST00000285670.2 - 3 469 c.295C>T c.(295-297)Cgg>Tgg p.R99W SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.R31W NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 31 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GAATTATTCCGAAAACGATCG 0.299000 5 29 0 0 1 0 0 RGMB 285704 broad.mit.edu 37 5 98115491 98115491 + Missense_Mutation SNP T T A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr5:98115491T>A ENST00000308234.7 + 4 869 c.467T>A c.(466-468)cTc>cAc p.L156H RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Missense_Mutation_p.L115H NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 115 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) ATCAGTGACCTCATGAGCCAG 0.557000 3 65 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109731 21109731 + Missense_Mutation SNP A A T TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr14:21109731A>T ENST00000320704.3 - 1 119 c.120T>A c.(118-120)aaT>aaA p.N40K NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TGCCTGTCAGATTCAGGAGAT 0.473000 19 119 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15166255 15166255 + Nonsense_Mutation SNP C C T TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr19:15166255C>T ENST00000427043.3 + 6 843 c.535C>T c.(535-537)Cga>Tga p.R179* CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179* NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 179 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity p.R179*(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 CATCGCCTACCGACATGATCA 0.537000 3 105 0 0 1 0 0 CSRNP2 81566 broad.mit.edu 37 12 51467752 51467752 + Missense_Mutation SNP C C G TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr12:51467752C>G ENST00000228515.1 - 3 562 c.265G>C c.(265-267)Ggt>Cgt p.G89R NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 89 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 GAGCTACCACCCTGGCTGGGC 0.552000 9 118 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154940985 154940985 + Missense_Mutation SNP C C T TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr1:154940985C>T ENST00000448116.2 - 4 956 c.736G>A c.(736-738)Gca>Aca p.A246T SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 246 PID. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTGCAGTCTGCGGCCATGAGG 0.552000 5 469 0 0 1 0 0 SRSF2 6427 broad.mit.edu 37 17 74732250 74732250 + Missense_Mutation SNP G G C TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr17:74732250G>C ENST00000392485.2 - 2 831 c.659C>G c.(658-660)tCc>tGc p.S220C MFSD11_ENST00000586622.1_Intron|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000508921.3_Missense_Mutation_p.S208C|SRSF2_ENST00000359995.5_Missense_Mutation_p.S220C NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 220 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 TTCTTAAGAGGACACCGCTCC 0.483000 Mis """MDS, CLL""" 3 146 0 0 1 0 0 IGHG3 0 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 3 50 0 0 1 0 0 PRSS27 83886 broad.mit.edu 37 16 2764076 2764076 + Silent SNP G G A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr16:2764076G>A ENST00000302641.3 - 4 552 c.498C>T c.(496-498)ccC>ccT p.P166P NM_031948.3 NP_114154.1 Q9BQR3 PRS27_HUMAN protease, serine 27 166 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 CTTCCTCACTGGGGCTGCCCC 0.597000 72 122 0 0 1 0 0 OR1K1 0 broad.mit.edu 37 9 125563190 125563190 + Silent SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr9:125563190C>A ENST00000277309.2 + 1 821 c.789C>A c.(787-789)gcC>gcA p.A263A NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 ACTTCCAGGCCACATCCCGAC 0.612000 4 146 1 1 1 1 0 LRPAP1 4043 broad.mit.edu 37 4 3534117 3534117 + Missense_Mutation SNP G G A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr4:3534117G>A ENST00000500728.2 - 1 169 c.23C>T c.(22-24)tCg>tTg p.S8L NM_002337.3 NP_002328.1 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein associated protein 1 8 negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) GCGCAGAAACGACCTGACCCT 0.711000 3 4 0 0 1 0 0 TMEM248 55069 broad.mit.edu 37 7 66410130 66410130 + Silent SNP G G T TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr7:66410130G>T ENST00000341567.4 + 3 582 c.327G>T c.(325-327)ccG>ccT p.P109P NM_017994.4 NP_060464.1 transmembrane protein 248 ACTCGGGCCCGGTGAATATCT 0.582000 3 88 1 1 1 1 0 NF1 4763 broad.mit.edu 37 17 29701105 29701105 + Missense_Mutation SNP G G A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr17:29701105G>A ENST00000358273.4 + 58 8835 c.8452G>A c.(8452-8454)Gca>Aca p.A2818T NF1_ENST00000444181.2_Missense_Mutation_p.A611T|NF1_ENST00000356175.3_Missense_Mutation_p.A2797T NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2818 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCACGGATCCGCAAGCCAAGT 0.458000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 63 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179529585 179529585 + Missense_Mutation SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr2:179529585C>A ENST00000589042.1 - 166 36336 c.36112G>T c.(36112-36114)Gtt>Ttt p.V12038F TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10186 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTACCTTTAACTGATGGGGGT 0.383000 5 15 0.00198382 0.00224833 1 1 0 ANXA3 306 broad.mit.edu 37 4 79525503 79525503 + Silent SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr4:79525503C>A ENST00000264908.6 + 12 1241 c.862C>A c.(862-864)Cga>Aga p.R288R ANXA3_ENST00000503570.2_Silent_p.R249R|ANXA3_ENST00000512884.1_Silent_p.R249R NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 288 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TTTGGACATTCGAACAGAGTT 0.368000 3 94 1 1 1 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 64 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17085189 17085189 + RNA SNP A A G TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr1:17085189A>G ENST00000455405.2 - 0 87 p.S428P(1) TCCAGGATTGATGGCGGCTGG 0.572000 5 80 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 63 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114379018 114379018 + Silent SNP A A G TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr6:114379018A>G ENST00000312719.5 - 5 1632 c.444T>C c.(442-444)ccT>ccC p.P148P HS3ST5_ENST00000411826.1_Silent_p.P148P|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 148 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TGATTTGCTGAGGGTAGGAAA 0.373000 67 133 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d 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 23 59 0 0 1 0 0 PLA2R1 0 broad.mit.edu 37 2 160869870 160869870 + Missense_Mutation SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr2:160869870C>A ENST00000283243.7 - 10 1774 c.1568G>T c.(1567-1569)gGt>gTt p.G523V PLA2R1_ENST00000392771.1_Missense_Mutation_p.G523V NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 523 C-type lectin 3. RHG -> ETC (in Ref. 1; AAA70110/ AAC50163). endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ACAGAATCCACCATGTCTCTC 0.378000 16 43 1.3612e-06 1.65289e-06 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129588337 129588337 + Silent SNP C C A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr6:129588337C>A ENST00000421865.2 + 16 2344 c.2295C>A c.(2293-2295)tcC>tcA p.S765S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 765 Laminin EGF-like 6. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATGCGGAGTCCTGTGATGACG 0.488000 4 227 0.00024832 0.000291134 1 1 0 NAP1L4 4676 broad.mit.edu 37 11 2981037 2981037 + Missense_Mutation SNP A A G TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr11:2981037A>G ENST00000380542.4 - 9 849 c.709T>C c.(709-711)Ttt>Ctt p.F237L NAP1L4_ENST00000526115.1_Missense_Mutation_p.F237L NM_005969.3 NP_005960.1 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 237 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) TCAAAGGAAAAGGGATCAGCC 0.373000 3 69 0 0 1 0 0 OR2T29 343563 broad.mit.edu 37 1 248722467 248722470 + Frame_Shift_Del DEL AGAT AGAT - TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr1:248722467_248722470delAGAT ENST00000328570.3 - 1 327_330 c.323_326delATCT c.(322-327)tgfs p.YL108fs RP11-438F14.3_ENST00000438623.1_RNA NM_001004694.2 NP_001004694.2 Q8NH02 O2T29_HUMAN olfactory receptor, family 2, subfamily T, member 29 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|lung(4) 5 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGCTAGTGTCAGATAGAGGAACAT 0.525 2 4 --- --- --- --- CTD-2049J23.2 0 broad.mit.edu 37 3 159820108 159820109 + RNA INS - - A TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr3:159820108_159820109insA ENST00000497452.1 - 0 517 CTTGACACAGCAAAAAAAAATG 0.441 8 129 --- --- --- --- SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 4 6 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 7 343 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-IM-A3EB-01A-11D-A202-08 TCGA-IM-A3EB-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d2ce873-ca14-42b9-97c2-6d62990c8e29 ee7db9b2-b212-4456-8a4b-ef93d52aea0d g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 9 15 --- --- --- ---