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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 56 0 0 0.000602 0 0 APBB1 322 broad.mit.edu 37 11 6422254 6422254 + Missense_Mutation SNP T T C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr11:6422254T>C ENST00000389906.2 - 11 1736 c.1637A>G c.(1636-1638)tAt>tGt p.Y546C APBB1_ENST00000299402.6_Missense_Mutation_p.Y544C|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.Y544C|APBB1_ENST00000530885.1_Missense_Mutation_p.Y324C NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 546 PID 2. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CCCCAGGTAATAGACTTGGAA 0.498000 156 177 0 0 0.003610 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 19 0 0 0.000602 0 0 MED16 10025 broad.mit.edu 37 19 889754 889754 + Missense_Mutation SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr19:889754C>T ENST00000312090.6 - 4 481 c.331G>A c.(331-333)Gcg>Acg p.A111T MED16_ENST00000395808.3_Missense_Mutation_p.A111T|MED16_ENST00000269814.4_Missense_Mutation_p.A111T|MED16_ENST00000325464.1_Missense_Mutation_p.A111T|MED16_ENST00000589119.1_Missense_Mutation_p.A111T|MED16_ENST00000606828.1_Intron Q9Y2X0 MED16_HUMAN mediator complex subunit 16 111 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGGTCCGCCATGCTCCAG 0.617000 5 12 0 0 0.001168 0 0 RGL4 266747 broad.mit.edu 37 22 24034592 24034592 + Missense_Mutation SNP T T C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr22:24034592T>C ENST00000290691.5 + 2 1420 c.250T>C c.(250-252)Tca>Cca p.S84P GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 84 small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 CCCGCAACGGTCATCTTTCCG 0.542000 4 171 0 0 0.000248 0 0 PLA1A 51365 broad.mit.edu 37 3 119336952 119336952 + Missense_Mutation SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr3:119336952C>T ENST00000273371.4 + 7 913 c.841C>T c.(841-843)Ccc>Tcc p.P281S PLA1A_ENST00000494440.1_Missense_Mutation_p.P265S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P108S|PLA1A_ENST00000495992.1_Missense_Mutation_p.P265S NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 281 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GATGGCCTTTCCCTGTGCCAG 0.498000 26 318 0 0 0.005443 0 0 SPIDR 23514 broad.mit.edu 37 8 48625364 48625364 + Silent SNP T T C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr8:48625364T>C ENST00000297423.4 + 15 2502 c.2118T>C c.(2116-2118)tcT>tcC p.S706S SPIDR_ENST00000541342.1_Silent_p.S636S|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Silent_p.S181S|SPIDR_ENST00000518074.1_Silent_p.S646S NM_001080394.2 NP_001073863.1 scaffolding protein involved in DNA repair TGCTGGGCTCTGAAGTCCTGG 0.597000 3 101 0 0 0.000248 0 0 PHF7 51533 broad.mit.edu 37 3 52454958 52454958 + Silent SNP A A G TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr3:52454958A>G ENST00000327906.3 + 7 1113 c.453A>G c.(451-453)caA>caG p.Q151Q PHF7_ENST00000347025.2_Silent_p.Q151Q|PHF7_ENST00000478707.1_Silent_p.Q151Q NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 151 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) AGAACATCCAACATGGGCATG 0.468000 44 61 0 0 0.002222 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 69 0 0 0.000978 0 0 ZNF700 90592 broad.mit.edu 37 19 12059975 12059975 + Missense_Mutation SNP C C A TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr19:12059975C>A ENST00000482090.1 + 3 1500 c.1082C>A c.(1081-1083)aCa>aAa p.T361K ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.T379K|ZNF763_ENST00000591944.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 TCATTTCAAACACATGAAAAA 0.353000 3 64 0.004672 0.00563862 0.004672 1 0 FAM179B 23116 broad.mit.edu 37 14 45542645 45542645 + Missense_Mutation SNP T T C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr14:45542645T>C ENST00000361462.2 + 20 5386 c.5203T>C c.(5203-5205)Tca>Cca p.S1735P FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.S1682P Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1682 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AGCTAAATTATCAAAAGCACT 0.408000 9 44 0 0 0.008291 0 0 EXT1 2131 broad.mit.edu 37 8 118817027 118817027 + Silent SNP A A G TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr8:118817027A>G ENST00000378204.2 - 10 2795 c.1989T>C c.(1987-1989)gcT>gcC p.A663A NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 663 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) ATTTTGTCACAGCAGACACCA 0.468000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 17 69 0 0 0.004990 0 0 USP51 158880 broad.mit.edu 37 X 55514742 55514742 + Missense_Mutation SNP G G C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chrX:55514742G>C ENST00000500968.3 - 2 713 c.631C>G c.(631-633)Ctg>Gtg p.L211V USP51_ENST00000586165.1_Intron NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 211 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 ATCAACCTCAGGTTCTTCTGC 0.502000 6 36 0 0 0.001168 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 71 0 0 0.000978 0 0 RPL22L1 200916 broad.mit.edu 37 3 170586127 170586127 + Missense_Mutation SNP G G T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr3:170586127G>T ENST00000295830.8 - 2 377 c.62C>A c.(61-63)aCt>aAt p.T21N RPL22L1_ENST00000463836.1_Missense_Mutation_p.T20N NM_001099645.1 NP_001093115.1 Q6P5R6 RL22L_HUMAN ribosomal protein L22-like 1 21 translation ribosome structural constituent of ribosome kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 4 all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) TACTGGATGAGTAAGGTCCAA 0.313000 19 25 0.000229342 0.000286677 0.001882 1 0 PIK3C2A 5286 broad.mit.edu 37 11 17190952 17190952 + Missense_Mutation SNP T T G TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr11:17190952T>G ENST00000265970.7 - 1 336 c.337A>C c.(337-339)Aaa>Caa p.K113Q PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 113 Interaction with clathrin. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) ACAGGTGTTTTTTTAGTCTCG 0.403000 12 133 0 0 0.001855 0 0 PLD5 200150 broad.mit.edu 37 1 242428743 242428743 + Missense_Mutation SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr1:242428743C>T ENST00000442594.2 - 5 736 c.227G>A c.(226-228)cGt>cAt p.R76H PLD5_ENST00000536534.1_Missense_Mutation_p.R168H|PLD5_ENST00000427495.1_Missense_Mutation_p.R106H NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 168 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TTCAAAAAGACGTTGACCCTG 0.313000 19 33 0 0 0.006122 0 0 NBR1 4077 broad.mit.edu 37 17 41342634 41342634 + Missense_Mutation SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr17:41342634C>T ENST00000422280.1 + 9 1163 c.704C>T c.(703-705)cCa>cTa p.P235L NBR1_ENST00000341165.6_Missense_Mutation_p.P235L|NBR1_ENST00000590996.1_Missense_Mutation_p.P235L|NBR1_ENST00000589872.1_Missense_Mutation_p.P235L|NBR1_ENST00000542611.1_Missense_Mutation_p.P214L|NBR1_ENST00000389312.4_Missense_Mutation_p.P235L NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 235 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) AGCCTATGCCCATCCTACAAT 0.483000 4 10 0 0 0.000248 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104224043 104224043 + Missense_Mutation SNP T T C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr14:104224043T>C ENST00000202556.9 - 5 682 c.400A>G c.(400-402)Atg>Gtg p.M134V NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 134 Gln-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) CTAGCTGCCATATCTTGGAGC 0.388000 4 90 0 0 0.000248 0 0 LOX 4015 broad.mit.edu 37 5 121409788 121409788 + Missense_Mutation SNP G G A TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr5:121409788G>A ENST00000231004.4 - 4 1254 c.955C>T c.(955-957)Cac>Tac p.H319Y SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 319 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) CTTGCTTTGTGGCCTTCAGCC 0.468000 4 123 0 0 0.000248 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 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 32 29 0 0 0.003271 0 0 PRPF8 10594 broad.mit.edu 37 17 1564570 1564570 + Missense_Mutation SNP A A C TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr17:1564570A>C ENST00000572621.1 - 26 4598 c.4333T>G c.(4333-4335)Tat>Gat p.Y1445D PRPF8_ENST00000304992.6_Missense_Mutation_p.Y1445D Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1445 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CATACCTGATACTGCTTAAAG 0.512000 23 100 0 0 0.002780 0 0 SPAM1 0 broad.mit.edu 37 7 123599696 123599696 + Missense_Mutation SNP C C G TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr7:123599696C>G ENST00000340011.5 + 5 1560 c.1203C>G c.(1201-1203)aaC>aaG p.N401K SPAM1_ENST00000439500.1_Missense_Mutation_p.N401K|SPAM1_ENST00000223028.7_Missense_Mutation_p.N401K|SPAM1_ENST00000402183.2_Missense_Mutation_p.N401K|SPAM1_ENST00000460182.1_Missense_Mutation_p.N401K NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 401 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TTCACCTCAACCCAGATAATT 0.403000 9 69 0 0 0.000978 0 0 TTC40 54777 broad.mit.edu 37 10 134743170 134743170 + Silent SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr10:134743170C>T ENST00000368585.3 - 9 1343 c.1005G>A c.(1003-1005)gcG>gcA p.A335A TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CGGTGAGCAGCGCCTCATCCC 0.557000 12 85 0 0 0.001368 0 0 ARSE 415 broad.mit.edu 37 X 2864076 2864076 + Silent SNP C C A TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chrX:2864076C>A ENST00000545496.1 - 8 1320 c.1029G>T c.(1027-1029)ctG>ctT p.L343L ARSE_ENST00000381134.3_Silent_p.L318L|ARSE_ENST00000540563.1_Silent_p.L273L P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 318 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGTCCCCATACAGCCCGTGGA 0.498000 44 63 2.77807e-22 3.6012e-22 0.003214 1 0 MMP17 4326 broad.mit.edu 37 12 132334395 132334395 + Missense_Mutation SNP C C T TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr12:132334395C>T ENST00000360564.1 + 9 1355 c.1253C>T c.(1252-1254)cCg>cTg p.P418L MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Missense_Mutation_p.P334L NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 418 Hemopexin-like 2. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) GAAGGATACCCGCGCCCCGTC 0.617000 5 80 0 0 0.001168 0 0 ITGA3 3675 broad.mit.edu 37 17 48156258 48156258 + Missense_Mutation SNP G G A TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr17:48156258G>A ENST00000320031.8 + 19 2698 c.2368G>A c.(2368-2370)Gat>Aat p.D790N ITGA3_ENST00000007722.7_Missense_Mutation_p.D790N NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 790 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 AACTGTGGAGGATGTAGGAAG 0.517000 42 71 0 0 0.006999 0 0 ODF1 4956 broad.mit.edu 37 8 103572989 103573015 + In_Frame_Del DEL CCCCTGCAGCCCCTGCAGCCCCTGCAA CCCCTGCAGCCCCTGCAGCCCCTGCAA - rs3018444 byFrequency TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr8:103572989_103573015delCCCCTGCAGCCCCTGCAGCCCCTGCAA ENST00000285402.3 + 2 786_812 c.630_656delCCCCTGCAGCCCCTGCAGCCCCTGCAA c.(628-657)agc>ag p.SPCSPCSPCN210del ODF1_ENST00000518835.1_Splice_Site_p.SPCSPCSPCN3_splice NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 210 C-X-P repeat region. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity p.C218_P226delCNPCSPCNP(1)|p.P217P(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CTCCTtgcagcccctgcagcccctgcagcccctgcaacccctgcagc 0.555 8 43 --- --- --- --- CORO1B 57175 broad.mit.edu 37 11 67206198 67206199 + Frame_Shift_Ins INS - - G rs141781443 by1000genomes TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr11:67206198_67206199insG ENST00000393893.1 - 11 1390_1391 c.1287_1288insC c.(1285-1290)cccctcfs p.L430fs CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Frame_Shift_Ins_p.L430fs NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 430 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GTGGTGGAGGCGGGGGCCCCTA 0.718 3 3 --- --- --- --- DHH 50846 broad.mit.edu 37 12 49485004 49485005 + In_Frame_Ins INS - - GTTGCG TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr12:49485004_49485005insGTTGCG ENST00000266991.2 - 2 777_778 c.471_472insCGCAAC c.(469-474)aaagta>aaCGCAACagta p.157_157K>NAT RP11-386G11.8_ENST00000553174.1_RNA NM_021044.2 NP_066382.1 O43323 DHH_HUMAN desert hedgehog 157 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding breast(1)|large_intestine(3)|lung(4) 8 AACCCATACTTGTTGCGGTCGC 0.609 30 84 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58740498 58740499 + Frame_Shift_Ins INS - - A TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr17:58740498_58740499insA ENST00000305921.3 + 6 1635_1636 c.1403_1404insA c.(1402-1404)taafs p.*468fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 468 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) GTCATACCCTCAAAAGATCCAG 0.421 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 11 94 --- --- --- --- CYP4F8 11283 broad.mit.edu 37 19 15726721 15726722 + RNA INS - - ACTCACTCATTCCTCTGATC rs148338083 by1000genomes TCGA-DJ-A1QE-01A-21D-A14W-08 TCGA-DJ-A1QE-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94f45d79-f4d0-4652-8cb5-08e2bbac043d 7f5fa0d9-7c50-432d-852e-de290831bc52 g.chr19:15726721_15726722insACTCACTCATTCCTCTGATC ENST00000441682.2 + 0 262 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 ACGGCAGAGAAactcactcatt 0.559 3 4 --- --- --- ---