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 CLASP1 23332 broad.mit.edu 37 2 122122645 122122645 + Missense_Mutation SNP A A C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr2:122122645A>C uc002tnf.3 - 4 1032 c.808T>G c.(808-810)Ttg>Gtg p.L270V CLASP1_uc010yyv.2_Intron|CLASP1_uc002tmz.3_Intron|CLASP1_uc002tna.3_Intron|CLASP1_uc010yyw.2_Intron|CLASP1_uc002tnb.3_Intron|CLASP1_uc010yyx.2_Intron|CLASP1_uc010yyy.2_Intron|CLASP1_uc002tnc.3_Intron|CLASP1_uc010yyz.2_Intron|CLASP1_uc010yza.2_Intron|CLASP1_uc021vnl.1_Intron|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tmy.3_Intron Q7Z460 CLAP1_HUMAN Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 3, mRNA. 940 G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) GAAAGGGGCAAGATAAGGCCA 0.473000 15 24 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2380227 2380227 + Silent SNP A A T TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr20:2380227A>T uc002wfy.1 + 5 754 c.693A>T c.(691-693)cgA>cgT p.R231R TGM6_uc010gal.1_Silent_p.R231R NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 231 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) ACAACGACCGAGGTGTGGTGC 0.632000 33 115 0 0 1 0 0 KRTAP6-2 337967 broad.mit.edu 37 21 31971024 31971024 + Missense_Mutation SNP C C G TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr21:31971024C>G uc011adc.2 - 0 170 c.170G>C c.(169-171)gGc>gCc p.G57A KRTAP22-1_uc011add.2_5'Flank NM_181604 NP_853635 Q3LI66 KRA62_HUMAN Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA. 57 intermediate filament p.G57S(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 GTAGCCAGAGCCGCATCCATA 0.567000 16 43 0 0 1 0 0 SMARCA5 8467 broad.mit.edu 37 4 144467147 144467147 + Missense_Mutation SNP G G C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr4:144467147G>C uc003ijg.3 + 18 2929 c.2467G>C c.(2467-2469)Gct>Cct p.A823P NM_003601 NP_003592 O60264 SMCA5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA. 823 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) AATTGATGAAGCTGAATCCCT 0.358000 29 44 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122687921 122687921 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr12:122687921G>A uc009zxm.3 + 11 1928 c.1903G>A c.(1903-1905)Gta>Ata p.V635I LRRC43_uc001ubw.4_Missense_Mutation_p.V450I|LRRC43_uc009zxn.3_Missense_Mutation_p.V396I|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank NM_001098519 NP_689972 Q8N309 LRC43_HUMAN Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA. 635 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GCCCCTGACCGTAGAGGTGCA 0.592000 4 98 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102584153 102584153 + Missense_Mutation SNP C C A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr11:102584153C>A uc001phe.2 - 9 1429 c.1330G>T c.(1330-1332)Gca>Tca p.A444S MMP8_uc010rut.1_3'UTR|MMP8_uc010ruu.1_Missense_Mutation_p.A421S NM_002424 NP_002415 P22894 MMP8_HUMAN Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA. 444 Hemopexin-like 4. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) AGATCAAATGCGTAATATCTT 0.343000 3 97 0 0 1 0 0 C17orf28 283987 broad.mit.edu 37 17 72951961 72951961 + Missense_Mutation SNP G G C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr17:72951961G>C uc002jmj.4 - 12 1711 c.1562C>G c.(1561-1563)tCt>tGt p.S521C C17orf28_uc002jmi.3_5'Flank|C17orf28_uc010wrs.2_Missense_Mutation_p.S320C NM_030630 NP_085133 Q8IV36 CQ028_HUMAN Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA. 521 integral to membrane|plasma membrane protein binding endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1) 17 all_lung(278;0.151)|Lung NSC(278;0.185) CTGGGCGGCAGAGAAGAGGAA 0.572000 37 86 0 0 1 0 0 ZIC2 7546 broad.mit.edu 37 13 100637890 100637890 + Missense_Mutation SNP G G T TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr13:100637890G>T uc001von.3 + 2 1846 c.1553G>T c.(1552-1554)gGg>gTg p.G518V NM_007129 NP_009060 O95409 ZIC2_HUMAN Homo sapiens Zic family member 2 (ZIC2), mRNA. 518 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ggGACAGCCGGGGGTCACAGC 0.771000 9 23 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935879 151935879 + Missense_Mutation SNP G G T TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chrX:151935879G>T uc004fgp.3 - 2 497 c.288C>A c.(286-288)agC>agA p.S96R MAGEA3_uc022chl.1_Missense_Mutation_p.S96R NM_005362 NP_005353 P43357 MAGA3_HUMAN Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA. 96 endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CAGGGAAGGTGCTTGGCCCCT 0.577000 5 148 0 0 1 0 0 IL33 90865 broad.mit.edu 37 9 6251164 6251164 + Missense_Mutation SNP T T C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr9:6251164T>C uc003zjt.3 + 3 320 c.242T>C c.(241-243)gTa>gCa p.V81A IL33_uc011lmg.2_Missense_Mutation_p.V81A|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Intron NM_033439 NP_254274 O95760 IL33_HUMAN Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA. 81 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) AGACATCTGGTACTCGCTGCC 0.468000 3 66 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873948 36873948 + Missense_Mutation SNP T T C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr3:36873948T>C uc003cgj.3 - 20 7242 c.6994A>G c.(6994-6996)Aga>Gga p.R2332G NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2332 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CTGCTGCCTCTCCCCCTGCCC 0.507000 3 109 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18960960 18960960 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr19:18960960G>A uc002nkg.3 + 3 813 c.538G>A c.(538-540)Gtc>Atc p.V180I UPF1_uc002nkf.3_Missense_Mutation_p.V180I NM_002911 NP_002902 Q92900 RENT1_HUMAN Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA. 180 Sufficient for interaction with RENT2. DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 GGGGGAGACAGTCCTGGAGTG 0.562000 3 126 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22108574 22108574 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chrX:22108574G>A uc004dah.3 + 5 894 c.691G>A c.(691-693)Gtg>Atg p.V231M PHEX_uc011mjr.2_Missense_Mutation_p.V231M|PHEX_uc011mjs.2_Missense_Mutation_p.V134M NM_000444 NP_000435 P78562 PHEX_HUMAN Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA. 231 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding p.A230A(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 CTCCCTGGCCGTGAGGGAAGA 0.428000 3 107 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130270798 130270798 + Missense_Mutation SNP T T C TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr9:130270798T>C uc004brh.3 - 10 1539 c.1337A>G c.(1336-1338)tAt>tGt p.Y446C FAM129B_uc004bri.3_Missense_Mutation_p.Y433C|FAM129B_uc004brj.4_Missense_Mutation_p.Y446C NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA. 446 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CTCGAACGTATACACGGCATT 0.637000 13 222 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034277 96034277 + Splice_Site SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr6:96034277G>A uc003poo.2 + 2 143 c.-37_splice c.e2-1 MANEA_uc003pon.3_Splice_Site NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN Homo sapiens mannosidase, endo-alpha (MANEA), mRNA. post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) ATAAATTGCAGCAAAACACTT 0.274000 3 73 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207317265 207317265 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr1:207317265G>A uc001hfo.3 + 10 1741 c.1547G>A c.(1546-1548)gGt>gAt p.G516D NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 516 Sushi 8. complement activation, classical pathway|innate immune response extracellular region protein binding p.Y515*(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TCTGGCTATGGTGTGGTTGGT 0.473000 19 88 0 0 1 0 0 C15orf42 90381 broad.mit.edu 37 15 90129030 90129030 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr15:90129030G>A uc002boe.3 + 3 1268 c.1268G>A c.(1267-1269)cGc>cAc p.R423H C15orf42_uc021sug.1_Missense_Mutation_p.R422H NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA. 423 DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 59 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) ACTGTGTGCCGCACCAAGGAG 0.542000 3 105 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22318659 22318659 + Silent SNP C C A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr22:22318659C>A uc002zvs.3 - 9 1407 c.972G>T c.(970-972)acG>acT p.T324T TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Silent_p.T324T|TOP3B_uc010gtl.3_Silent_p.T324T NM_003935 NP_003926 O95985 TOP3B_HUMAN Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA. 324 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GCCGCTCAGCCGTCTGCATGG 0.637000 3 110 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43816894 43816894 + Missense_Mutation SNP G G A TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr15:43816894G>A uc001zrt.3 + 3 3690 c.3223G>A c.(3223-3225)Gca>Aca p.A1075T NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 1075 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGCCCAGGAAGCACCTGTCAA 0.532000 3 120 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166889963 166889963 + Frame_Shift_Del DEL T T - TCGA-DJ-A3US-01A-11D-A22D-08 TCGA-DJ-A3US-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad874249-9964-4e48-aa3f-7e828ea28f3f 23aa8b80-6356-479f-beae-d06aa7d895dc g.chr1:166889963delT uc001gdx.2 - 8 1921 c.1865delA c.(1864-1866)aagfs p.K622fs NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 622 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GGCGGGCTCCTTTTTCCTCTT 0.682 2 4 --- --- --- ---