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-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 142 0 0 1 0 0 SIAE 54414 broad.mit.edu 37 11 124539274 124539274 + Missense_Mutation SNP T T C TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr11:124539274T>C ENST00000263593.3 - 2 383 c.211A>G c.(211-213)Aaa>Gaa p.K71E SIAE_ENST00000545756.1_Missense_Mutation_p.K36E Q9HAT2 SIAE_HUMAN sialic acid acetylesterase 71 K -> R (in dbSNP:rs12282107). extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 15 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) CTGGTCACTTTCTTCATGATG 0.532000 OREG0021460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 64 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140208982 140208982 + Missense_Mutation SNP T T A TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr5:140208982T>A ENST00000529310.1 + 1 1420 c.1306T>A c.(1306-1308)Tgg>Agg p.W436R PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.W436R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTTCGCTGTGGGCCACCGC 0.622000 79 123 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9463376 9463376 + Silent SNP C C T TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr2:9463376C>T ENST00000281419.3 + 6 937 c.597C>T c.(595-597)tgC>tgT p.C199C ASAP2_ENST00000315273.4_Silent_p.C199C NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 199 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding p.C199C(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TACAGATGTGCGAGGTAAGGC 0.572000 57 139 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102819790 102819790 + Missense_Mutation SNP C C T TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr11:102819790C>T ENST00000260302.3 - 7 1043 c.1015G>A c.(1015-1017)Gag>Aag p.E339K MMP13_ENST00000340273.4_Missense_Mutation_p.E339K NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 339 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GAAGGGTGCTCATATGCAGCA 0.488000 25 66 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198299704 198299704 + Missense_Mutation SNP G G A TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr2:198299704G>A ENST00000335508.5 - 1 111 c.20C>T c.(19-21)aCt>aTt p.T7I SF3B1_ENST00000414963.2_Missense_Mutation_p.T7I|SF3B1_ENST00000409915.4_Missense_Mutation_p.T7I|SF3B1_ENST00000487698.1_Missense_Mutation_p.T7I NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 7 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) ACCTTCGTGAGTCTTGGCGAT 0.493000 Mis myelodysplastic syndrome 23 51 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102516411 102516411 + RNA SNP C C G TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr15:102516411C>G ENST00000557932.1 + 0 1359 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TCCATCCCTCCTCTGCCGCCA 0.662000 3 39 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176301124 176301124 + Missense_Mutation SNP T T C TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr5:176301124T>C ENST00000329542.4 + 7 1316 c.1042T>C c.(1042-1044)Ttc>Ctc p.F348L UNC5A_ENST00000261961.3_Missense_Mutation_p.F308L NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 348 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACCTCAGGCTTCCAGCCCGT 0.637000 3 51 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56866442 56866442 + Missense_Mutation SNP A A G TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr8:56866442A>G ENST00000520220.2 + 8 900 c.626A>G c.(625-627)aAg>aGg p.K209R LYN_ENST00000519728.1_Missense_Mutation_p.K230R NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 230 SH2. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) ATTAGTCCCAAGCCACAGAAG 0.478000 28 48 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 47 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50796357 50796357 + Missense_Mutation SNP G G A TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr6:50796357G>A ENST00000263046.4 + 4 759 c.593G>A c.(592-594)gGc>gAc p.G198D TFAP2B_ENST00000393655.3_Missense_Mutation_p.G189D Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 189 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AATAACAGCGGCATGAATCTA 0.333000 5 111 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d 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 43 75 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29990601 29990601 + Missense_Mutation SNP G G A TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr16:29990601G>A ENST00000308893.4 + 7 1578 c.535G>A c.(535-537)Gcc>Acc p.A179T TAOK2_ENST00000279394.3_Missense_Mutation_p.A179T|TAOK2_ENST00000543033.1_Missense_Mutation_p.A179T NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 179 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CATGGCACCTGCCAACTCCTT 0.577000 4 116 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127843851 127843851 + Missense_Mutation SNP G G A TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr10:127843851G>A ENST00000368679.4 - 4 593 c.284C>T c.(283-285)aCg>aTg p.T95M ADAM12_ENST00000368676.4_Missense_Mutation_p.T95M NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 95 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GTGGGTTTCCGTGAAACTGCT 0.433000 46 84 0 0 1 0 0 SNRNP70 6625 broad.mit.edu 37 19 49610890 49610890 + Missense_Mutation SNP C C T TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr19:49610890C>T ENST00000221448.5 + 9 782 c.586C>T c.(586-588)Ctc>Ttc p.L196F SNRNP70_ENST00000598441.1_Missense_Mutation_p.L196F NM_003089.4 NP_003080.2 P08621 RU17_HUMAN small nuclear ribonucleoprotein 70kDa (U1) 196 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 AGGAGGAGGCCTCGGTGGTAC 0.622000 24 46 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97790244 97790246 + In_Frame_Del DEL TTC TTC - TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr2:97790244_97790246delTTC ENST00000420699.2 + 5 885_887 c.641_643delTTC c.(640-645)att>a p.IL214del ANKRD36_ENST00000461153.2_In_Frame_Del_p.IL214del NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 214 p.L215I(1) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 GATATAGTCATTCTTCTTCTGCA 0.350 3 3 --- --- --- --- LINC00971 0 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 5 5 --- --- --- --- RP11-125O18.1 0 broad.mit.edu 37 4 128021696 128021697 + RNA INS - - TGTC rs112203283 by1000genomes TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr4:128021696_128021697insTGTC ENST00000504050.1 - 0 483 CTGTGTGTGTGTGTCTGTCTGT 0.342 3 3 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr6:146350671_146350672insT ENST00000392299.2 + 2 488_489 c.18_19insT c.(16-21)ttttttfs p.FF6fs GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 6 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCTCCTTTTGTTTTTTTTCCC 0.644 7 285 --- --- --- --- LRRK2 120892 broad.mit.edu 37 12 40702485 40702485 + Frame_Shift_Del DEL G G - TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr12:40702485delG ENST00000298910.7 + 29 4234 c.4176delG c.(4174-4176)gtfs p.V1392fs NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1392 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCCTAAATGTGTGGGATTTTG 0.358 19 55 --- --- --- --- RP11-271K11.5 0 broad.mit.edu 37 17 29369492 29369493 + RNA DEL CA CA - TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr17:29369492_29369493delCA ENST00000583112.1 - 0 628 p.?(1) cacaggcaagcacacacacaca 0.510 2 4 --- --- --- --- RARA 0 broad.mit.edu 37 17 38508725 38508726 + Frame_Shift_Ins INS - - A TCGA-E8-A433-01A-11D-A23M-08 TCGA-E8-A433-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54f7b709-1f2d-4424-9180-cb52ecd97676 a9dad2a0-43d5-4c1d-932d-460d6753a72d g.chr17:38508725_38508726insA ENST00000254066.5 + 6 1228_1229 c.773_774insA c.(772-774)aacfs p.N258fs RARA_ENST00000394086.3_Frame_Shift_Ins_p.N274fs|RARA_ENST00000394089.2_Frame_Shift_Ins_p.N258fs|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000425707.3_Frame_Shift_Ins_p.N161fs|RARA_ENST00000394081.3_Frame_Shift_Ins_p.N253fs NM_000964.3 NP_000955.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 258 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) GCCGACCAGATCACCCTCCTCA 0.604 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 17 39 --- --- --- ---