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 EEF1DP3 0 broad.mit.edu 37 13 32527529 32527529 + RNA SNP A A G rs916756 by1000genomes TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr13:32527529A>G ENST00000428783.1 + 0 1229 GCCCGCGTGCATGAGGCCCTG 0.443000 3 23 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38820530 38820530 + Missense_Mutation SNP G G C rs61758415 byFrequency TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr6:38820530G>C ENST00000359357.3 + 38 5130 c.4876G>C c.(4876-4878)Gat>Cat p.D1626H DNAH8_ENST00000449981.2_Missense_Mutation_p.D1843H|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1626H dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAAAGACTATGATCGCATCAT 0.373000 3 41 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135651397 135651397 + Missense_Mutation SNP G G C TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr5:135651397G>C ENST00000513104.1 - 3 1133 c.851C>G c.(850-852)aCa>aGa p.T284R TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 284 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CACCTCTTCTGTGTCTCGGCA 0.463000 13 28 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 6 38 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171249978 171249978 + Silent SNP G G A TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr1:171249978G>A ENST00000354841.4 + 5 812 c.681G>A c.(679-681)tcG>tcA p.S227S FMO1_ENST00000367750.3_Silent_p.S227S|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.S164S Q01740 FMO1_HUMAN flavin containing monooxygenase 1 227 S -> T. NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCTTTGACTCGGGCTACCCAT 0.502000 4 53 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713340 30713340 + Missense_Mutation SNP A A G TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr3:30713340A>G ENST00000295754.5 + 4 1047 c.665A>G c.(664-666)gAt>gGt p.D222G TGFBR2_ENST00000359013.4_Missense_Mutation_p.D247G NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 222 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 ATCCTGGAAGATGACCGCTCT 0.562000 17 24 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 2 2 6.4e-05 6.96471e-05 1 1 0 C16orf46 123775 broad.mit.edu 37 16 81095125 81095125 + Missense_Mutation SNP C C T TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr16:81095125C>T ENST00000378611.4 - 3 944 c.829G>A c.(829-831)Gac>Aac p.D277N C16orf46_ENST00000299578.5_Missense_Mutation_p.D277N|RP11-303E16.8_ENST00000564536.1_RNA NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 277 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 GATGGCGTGTCGTTGACCATA 0.557000 48 93 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56782202 56782202 + Nonsense_Mutation SNP C C T TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr16:56782202C>T ENST00000569842.1 + 2 139 c.43C>T c.(43-45)Cag>Tag p.Q15* NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15* Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 15 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.Q15*(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GCAAGCTGAACAGCTTGCTGC 0.517000 19 41 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124265687 124265687 + Missense_Mutation SNP T T C rs11057353 by1000genomes TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr12:124265687T>C ENST00000409039.3 + 6 524 c.499T>C c.(499-501)Tct>Cct p.S167P NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 167 Stem (By similarity). S -> P (in dbSNP:rs11057353). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGGAGTCACATCTGGAGAAGT 0.428000 6 113 0 0 1 0 0 PI4KAP2 0 broad.mit.edu 37 22 21829507 21829507 + RNA SNP G G A rs140118179 by1000genomes TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr22:21829507G>A ENST00000450651.1 - 0 1831 endometrium(3)|urinary_tract(1) 4 TACTTCAAGAGCTTGATTGTC 0.542000 6 13 0 0 1 0 0 CTBS 1486 broad.mit.edu 37 1 85028950 85028950 + Missense_Mutation SNP T T C TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr1:85028950T>C ENST00000370630.4 - 6 995 c.947A>G c.(946-948)tAt>tGt p.Y316C CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 316 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) TTTATAGTTATAATAAGGAGC 0.323000 10 19 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 34 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295440 62295440 + Missense_Mutation SNP C C A TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr11:62295440C>A ENST00000378024.4 - 5 6723 c.6449G>T c.(6448-6450)aGt>aTt p.S2150I AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2150 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CACATCCACACTGGGGCCTGT 0.498000 8 239 0.0381472 0.0392069 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 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 26 35 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121429476 121429476 + Missense_Mutation SNP C C T rs143571823 byFrequency TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr11:121429476C>T ENST00000260197.7 + 20 2969 c.2840C>T c.(2839-2841)aCg>aTg p.T947M NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 947 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GAGCGGATCACGTTCAGTGGC 0.552000 4 74 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 64 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36564482 36564482 + Missense_Mutation SNP C C T TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr1:36564482C>T ENST00000397799.1 - 4 1024 c.800G>A c.(799-801)gGa>gAa p.G267E COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 267 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCCCACAGCTCCTGGCTCCCC 0.662000 11 9 0 0 1 0 0 INTS4L2 0 broad.mit.edu 37 7 65150814 65150815 + RNA INS - - C TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr7:65150814_65150815insC ENST00000430126.2 + 0 757 TCTTCATCCCTCACCCCCCCCC 0.460 4 8 --- --- --- --- TAF6 6878 broad.mit.edu 37 7 99711973 99711974 + Frame_Shift_Del DEL AG AG - TCGA-EM-A4FQ-01A-11D-A257-08 TCGA-EM-A4FQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 396f1d6b-5434-4c77-908c-24cdb5af5671 9172fce9-fc68-4679-b6b2-019262cb0f09 g.chr7:99711973_99711974delAG ENST00000472509.1 - 1 207_208 c.30_31delCT c.(28-33)ccgtfs p.PC10fs TAF6_ENST00000497233.1_Intron|TAF6_ENST00000437822.2_Intron|TAF6_ENST00000453269.2_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000344095.4_Intron|TAF6_ENST00000418432.2_Intron P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 0 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGTGGAGACAGGGGAGGAACT 0.569 2 4 --- --- --- ---