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 GATAD2B 57459 broad.mit.edu 37 1 153788813 153788813 + Silent SNP G G C TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr1:153788813G>C ENST00000368655.4 - 7 1395 c.1152C>G c.(1150-1152)gcC>gcG p.A384A NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 384 CR2. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACTCGCTATTGGCTGCACTAG 0.463000 7 83 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 19914062 19914062 + Missense_Mutation SNP C C T rs150041344 by1000genomes TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr11:19914062C>T ENST00000396085.1 + 6 1214 c.853C>T c.(853-855)Cgc>Tgc p.R285C NAV2_ENST00000360655.4_Missense_Mutation_p.R221C|NAV2_ENST00000527559.2_Missense_Mutation_p.R237C|NAV2_ENST00000349880.4_Missense_Mutation_p.R285C|NAV2_ENST00000540292.1_Missense_Mutation_p.R239C|NAV2_ENST00000396087.3_Missense_Mutation_p.R308C NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 308 nucleus ATP binding|helicase activity p.R308C(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TAACAACCGACGCAGCCAGAG 0.547000 9 43 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 3 28 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152522967 152522967 + Missense_Mutation SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr6:152522967G>A ENST00000367255.5 - 127 23738 c.23137C>T c.(23137-23139)Cgt>Tgt p.R7713C SYNE1_ENST00000448038.1_Missense_Mutation_p.R7642C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7642C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2237C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7713C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7325C NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7713 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACCTTGCAACGCATTTGTTCT 0.448000 HNSCC(10;0.0054) 4 73 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72891714 72891714 + Missense_Mutation SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr7:72891714G>A ENST00000339594.4 - 7 2415 c.2077C>T c.(2077-2079)Cgg>Tgg p.R693W BAZ1B_ENST00000404251.1_Missense_Mutation_p.R693W NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 693 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) AAGCAGAGCCGCACCAGCTCT 0.473000 10 61 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26462763 26462763 + Silent SNP A A G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr10:26462763A>G ENST00000265944.5 + 30 3736 c.3570A>G c.(3568-3570)aaA>aaG p.K1190K MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1190 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AGACTCCAAAAAAAATGAATA 0.408000 8 39 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37382282 37382282 + Missense_Mutation SNP C C T rs146510671 TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr7:37382282C>T ENST00000310758.4 - 2 660 c.13G>A c.(13-15)Gcg>Acg p.A5T ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 5 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.A5T(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 ACGATGTCCGCGGGTGGCGGC 0.502000 4 148 0 0 1 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15023762 15023762 + Missense_Mutation SNP A A G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chrY:15023762A>G ENST00000336079.3 + 4 269 c.163A>G c.(163-165)Aaa>Gaa p.K55E DDX3Y_ENST00000360160.4_Missense_Mutation_p.K55E NM_001122665.1|NM_004660.3 NP_001116137.1|NP_004651.2 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked 55 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 ATTCCATGATAAAGACAGTTC 0.373000 4 27 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25667862 25667862 + Silent SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr4:25667862G>A ENST00000382051.3 + 5 542 c.492G>A c.(490-492)acG>acA p.T164T SLC34A2_ENST00000504570.1_Silent_p.T163T|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Silent_p.T163T NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 164 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) GCACCTCAACGTCCATCGTTG 0.557000 T ROS1 NSCLC 3 71 0 0 1 0 0 PDE3B 5140 broad.mit.edu 37 11 14808089 14808089 + Missense_Mutation SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr11:14808089C>T ENST00000282096.4 + 3 1489 c.1136C>T c.(1135-1137)tCt>tTt p.S379F PDE3B_ENST00000455098.2_Intron NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 379 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTCATTTCCTCTCTACGGAGT 0.448000 25 117 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23300033 23300033 + RNA SNP T T C rs1058831 by1000genomes TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr15:23300033T>C ENST00000560464.1 - 0 4254 CGGGAACGGGTGACTGCTTGC 0.592000 3 29 0 0 1 0 0 PCDHB2 0 broad.mit.edu 37 5 140476458 140476458 + Missense_Mutation SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr5:140476458C>T ENST00000194155.4 + 1 2232 c.2084C>T c.(2083-2085)gCg>gTg p.A695V NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 695 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGTGGTGGCGTTGGCCTCG 0.697000 21 212 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160289578 160289578 + Silent SNP A A G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr2:160289578A>G ENST00000392783.2 - 9 2085 c.1590T>C c.(1588-1590)ccT>ccC p.P530P BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P|BAZ2B_ENST00000392782.1_Silent_p.P528P NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 530 P -> L (in dbSNP:rs3732287). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GTGAGGAAAAAGGGGTGCTAC 0.443000 3 111 0 0 1 0 0 PICALM 8301 broad.mit.edu 37 11 85725995 85725995 + Missense_Mutation SNP A A G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr11:85725995A>G ENST00000526033.1 - 5 780 c.464T>C c.(463-465)gTt>gCt p.V155A PICALM_ENST00000393346.3_Missense_Mutation_p.V155A|PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000532317.1_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 155 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TGTTCTCATAACTCCATCAGC 0.333000 T """MLLT10, MLL""" """TALL, AML, """ 3 13 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116729075 116729075 + Missense_Mutation SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr11:116729075G>A ENST00000375300.1 - 20 2967 c.2962C>T c.(2962-2964)Ccc>Tcc p.P988S SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.P870S|SIK3_ENST00000375288.1_Missense_Mutation_p.P265S|SIK3_ENST00000446921.2_Missense_Mutation_p.P928S|SIK3_ENST00000292055.4_Missense_Mutation_p.P930S|SIK3_ENST00000434315.2_Missense_Mutation_p.P769S Q9Y2K2 SIK3_HUMAN SIK family kinase 3 930 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TCTGTTGGGGGCAGCCGGATG 0.567000 3 42 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87470210 87470210 + Nonsense_Mutation SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr8:87470210C>T ENST00000517970.1 + 22 2762 c.2455C>T c.(2455-2457)Cga>Tga p.R819* WWP1_ENST00000349423.2_Nonsense_Mutation_p.R601*|WWP1_ENST00000341922.2_Nonsense_Mutation_p.R689*|WWP1_ENST00000265428.4_Nonsense_Mutation_p.R819* NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 819 HECT. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 TACTGTTTATCGACATTATAC 0.358000 4 212 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28206326 28206326 + Silent SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr8:28206326C>T ENST00000344423.5 - 10 1583 c.1452G>A c.(1450-1452)aaG>aaA p.K484K ZNF395_ENST00000523202.1_Silent_p.K484K|ZNF395_ENST00000523095.1_Silent_p.K484K NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 484 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TGCGGCACTTCTTAGCCTCCC 0.627000 6 74 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94054855 94054855 + Missense_Mutation SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr1:94054855C>T ENST00000370244.1 - 7 896 c.608G>A c.(607-609)cGg>cAg p.R203Q BCAR3_ENST00000370243.1_Missense_Mutation_p.R203Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.R112Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.R203Q NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 203 SH2. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) CAGAACTGTCCGGTTGATTTT 0.582000 4 39 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134321811 134321811 + Missense_Mutation SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr9:134321811G>A ENST00000357304.4 + 6 692 c.637G>A c.(637-639)Ggt>Agt p.G213S PRRC2B_ENST00000405995.1_Missense_Mutation_p.G213S|PRRC2B_ENST00000458550.1_Missense_Mutation_p.G213S NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 213 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GAGGGAGGGCGGTGGGCGACA 0.582000 3 88 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543453 141543453 + Missense_Mutation SNP G G T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr4:141543453G>T ENST00000442267.2 - 21 3771 c.3697C>A c.(3697-3699)Ccc>Acc p.P1233T NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1233 intracellular calcium ion binding|Rab GTPase activator activity p.P1233T(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ATGCACACGGGCTTGTCAAAG 0.592000 7 42 2.0095e-06 2.24316e-06 1 1 0 CDC14B 8555 broad.mit.edu 37 9 99296346 99296346 + Missense_Mutation SNP G G C TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr9:99296346G>C ENST00000375241.1 - 9 1260 c.809C>G c.(808-810)gCc>gGc p.A270G CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 270 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) AAAGCGTTTGGCATCATACAT 0.388000 5 35 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40847632 40847632 + Missense_Mutation SNP G G T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr17:40847632G>T ENST00000264638.4 + 19 3303 c.3086G>T c.(3085-3087)aGc>aTc p.S1029I CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 1029 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity p.S1029I(1) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CACATGCTGAGCCGGCCAGTG 0.617000 9 69 0.0477658 0.0477658 1 1 0 BMP6 654 broad.mit.edu 37 6 7727541 7727541 + Missense_Mutation SNP A A T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr6:7727541A>T ENST00000283147.6 + 1 512 c.353A>T c.(352-354)cAg>cTg p.Q118L NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 118 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.Q118L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) cagcagcagcagcTGCCTCGC 0.731000 2 11 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75609601 75609601 + Missense_Mutation SNP G G T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr1:75609601G>T ENST00000294638.5 + 7 1346 c.682G>T c.(682-684)Gct>Tct p.A228S LHX8_ENST00000356261.3_Missense_Mutation_p.A218S NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 228 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 AGCAAAAAGAGCTCGGACCAG 0.398000 7 37 0.00307968 0.00321358 1 1 0 SLC30A9 10463 broad.mit.edu 37 4 42072553 42072553 + Silent SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr4:42072553G>A ENST00000264451.6 + 15 1443 c.1263G>A c.(1261-1263)ctG>ctA p.L421L NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 421 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GCAATCCACTGTATGACAGCC 0.398000 23 110 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588840 247588840 + Nonsense_Mutation SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr1:247588840C>T ENST00000366497.2 + 4 2875 c.2095C>T c.(2095-2097)Cga>Tga p.R699* NLRP3_ENST00000336119.3_Nonsense_Mutation_p.R699*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.R699* NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 699 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AAAGGAAGGCCGACACCTTGA 0.532000 5 43 0 0 1 0 0 PLAC8 51316 broad.mit.edu 37 4 84026088 84026088 + Silent SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr4:84026088G>A ENST00000426923.2 - 3 282 c.204C>T c.(202-204)gtC>gtT p.V68V PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000505406.1_Silent_p.V68V|PLAC8_ENST00000311507.4_Silent_p.V68V|PLAC8_ENST00000509973.1_Silent_p.V11V|PLAC8_ENST00000411416.2_Silent_p.V68V NM_001130715.1 NP_001124187.1 Q9NZF1 PLAC8_HUMAN placenta-specific 8 68 large_intestine(2)|lung(3)|ovary(1) 6 Hepatocellular(203;0.114) TCCTCATTGCGACGCTTGTTC 0.443000 8 95 0 0 1 0 0 PTPN3 0 broad.mit.edu 37 9 112185091 112185091 + Missense_Mutation SNP A A C TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr9:112185091A>C ENST00000412145.1 - 8 3203 c.650T>G c.(649-651)aTg>aGg p.M217R PTPN3_ENST00000374541.2_Missense_Mutation_p.M348R|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 348 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GTTCCACACCATCCCGCCAAT 0.463000 26 194 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219249918 219249918 + Silent SNP C C A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr2:219249918C>A ENST00000233202.6 + 4 662 c.322C>A c.(322-324)Cga>Aga p.R108R SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 108 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCTGCCAGCGACTGGCTGC 0.632000 3 126 0.004672 0.0047714 1 1 0 TRAPPC4 51399 broad.mit.edu 37 11 118889681 118889681 + Splice_Site SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr11:118889681G>A ENST00000533632.1 + 1 539 c.e1+1 TRAPPC4_ENST00000434101.2_Splice_Site|TRAPPC4_ENST00000533058.1_Splice_Site|TRAPPC4_ENST00000359005.4_Splice_Site|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000525303.1_Splice_Site|TRAPPC4_ENST00000528230.1_Splice_Site NM_016146.4 NP_057230.1 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GGCATCCGAGGTGGGCTAGGC 0.627000 4 98 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25888046 25888046 + Missense_Mutation SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr10:25888046C>T ENST00000376351.3 + 11 3850 c.3491C>T c.(3490-3492)cCt>cTt p.P1164L GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1164 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TTCCAGCAACCTTTAACATCA 0.433000 5 41 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113753974 113753974 + Missense_Mutation SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr3:113753974G>A ENST00000295878.3 - 6 762 c.616C>T c.(616-618)Cgt>Tgt p.R206C KIAA1407_ENST00000545063.1_Missense_Mutation_p.R37C NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 206 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 TCTTTCTCACGTCTTAAGCGA 0.383000 6 33 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13828770 13828770 + Missense_Mutation SNP T T A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr12:13828770T>A ENST00000279593.3 - 4 1243 c.1034A>T c.(1033-1035)gAg>gTg p.E345V NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 345 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATTCCTCCCCTCAAAAGTGAC 0.398000 8 68 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 4 223 0 0 1 0 0 CTSD 1509 broad.mit.edu 37 11 1780798 1780798 + Silent SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr11:1780798G>A ENST00000236671.2 - 3 432 c.300C>T c.(298-300)tcC>tcT p.S100S NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 100 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACAGGTTGGAGGAGCCCGTGT 0.652000 3 61 0 0 1 0 0 MAP3K11 4296 broad.mit.edu 37 11 65375265 65375265 + Silent SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr11:65375265G>A ENST00000309100.3 - 4 1577 c.1092C>T c.(1090-1092)caC>caT p.H364H MAP3K11_ENST00000530153.1_Silent_p.H107H NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 364 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 CGGGCCTGCGGTGGGGGTCCT 0.652000 9 49 0 0 1 0 0 RBL2 5934 broad.mit.edu 37 16 53504028 53504028 + Missense_Mutation SNP A A G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr16:53504028A>G ENST00000262133.6 + 15 2313 c.2176A>G c.(2176-2178)Act>Gct p.T726A RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 726 Pocket; binds E1A.|Spacer. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TCCTGGACAGACTTTGGTCAC 0.547000 10 42 0 0 1 0 0 KRTAP19-6 337973 broad.mit.edu 37 21 31914086 31914086 + Missense_Mutation SNP A A T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr21:31914086A>T ENST00000334046.5 - 1 97 c.67T>A c.(67-69)Tat>Aat p.Y23N NM_181612.2 NP_853643.1 Q3LI70 KR196_HUMAN keratin associated protein 19-6 23 intermediate filament breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 9 CCACAGCCATAGCCCAGACCA 0.522000 11 160 0 0 1 0 0 RP11-510H23.1 0 broad.mit.edu 37 6 125233353 125233353 + RNA SNP T T A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr6:125233353T>A ENST00000439075.1 - 0 1392 NR_026876.1 TGCCAGACACTCTATATTTGC 0.363000 8 32 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136260870 136260870 + Silent SNP C C G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr9:136260870C>G ENST00000371957.3 + 9 953 c.846C>G c.(844-846)ccC>ccG p.P282P C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 282 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) AGATCGACCCCTCGGATCGAA 0.493000 21 51 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45958914 45958914 + Missense_Mutation SNP G G T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr22:45958914G>T ENST00000402984.3 + 16 2037 c.1934G>T c.(1933-1935)gGc>gTc p.G645V FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.G607V|FBLN1_ENST00000442170.2_Intron P23142 FBLN1_HUMAN fibulin 1 620 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTCCGCATGGGCCCCTCCAGT 0.617000 10 98 7.48243e-07 8.55135e-07 1 1 0 SCNN1D 6339 broad.mit.edu 37 1 1222261 1222262 + Frame_Shift_Ins INS - - C TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr1:1222261_1222262insC ENST00000338555.2 + 5 1677_1678 c.533_534insC c.(532-534)gccfs p.A178fs SCNN1D_ENST00000325425.8_Frame_Shift_Ins_p.A244fs|SCNN1D_ENST00000379116.5_Frame_Shift_Ins_p.A342fs|SCNN1D_ENST00000400928.3_Frame_Shift_Ins_p.A178fs sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) TCCGCCACTGTCCCCCGCCACG 0.644 7 153 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 3 6 --- --- --- --- EPHB2 2048 broad.mit.edu 37 1 23240245 23240246 + Frame_Shift_Ins INS - - A rs56871920 TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr1:23240245_23240246insA ENST00000400191.3 + 17 3068_3069 c.3050_3051insA c.(3049-3051)gaafs p.E1017fs EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_3'UTR NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 1017 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TCAAACGACGGAAAAAAAAAGG 0.500 3 5 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27023451 27023453 + In_Frame_Del DEL GCG GCG - TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr1:27023451_27023453delGCG ENST00000324856.7 + 1 928_930 c.557_559delGCG c.(556-561)agc>a p.SG186del ARID1A_ENST00000457599.2_In_Frame_Del_p.SG186del NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 186 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCGCTGCAGAGCGGCGGCGGCGG 0.709 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 2 4 --- --- --- --- TAPT1 202018 broad.mit.edu 37 4 16189980 16189981 + Splice_Site INS - - A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr4:16189980_16189981insA ENST00000405303.2 - 5 696 c.e5-2 TAPT1_ENST00000508888.1_Splice_Site|TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site NM_153365.2 NP_699196.2 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 1 integral to membrane growth hormone-releasing hormone receptor activity NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 10 ATCAGCTACCTAAAAAAAAAAA 0.317 2 4 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 3 3 --- --- --- --- RP13-516M14.2 0 broad.mit.edu 37 17 80173535 80173535 + RNA DEL C C - rs112012232 TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr17:80173535delC ENST00000581303.1 + 0 1371 tccttccctgccccccacact 0.701 2 4 --- --- --- ---