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 UBR4 23352 broad.mit.edu 37 1 19493625 19493625 + Missense_Mutation SNP G G C TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr1:19493625G>C ENST00000375267.2 - 29 4003 c.4000C>G c.(4000-4002)Ctg>Gtg p.L1334V UBR4_ENST00000375254.3_Missense_Mutation_p.L1334V|UBR4_ENST00000375226.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375217.2_Missense_Mutation_p.L1334V Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1334 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ATGCGTTCCAGGGAGTTGCTA 0.483 6 192 --- --- --- --- NCKAP1 10787 broad.mit.edu 37 2 183846059 183846059 + Silent SNP A A G TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr2:183846059A>G ENST00000361354.4 - 13 1626 c.1254T>C c.(1252-1254)caT>caC p.H418H NCKAP1_ENST00000360982.2_Silent_p.H424H NM_013436.3 NP_038464.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding p.H424H(1) breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ATTTCCTCACATGTGCTCTAA 0.328 7 109 --- --- --- --- CCDC140 151278 broad.mit.edu 37 2 223168894 223168894 + Missense_Mutation SNP G G C TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr2:223168894G>C ENST00000295226.1 + 2 657 c.273G>C c.(271-273)aaG>aaC p.K91N NM_153038.1 NP_694583.1 Q96MF4 CC140_HUMAN coiled-coil domain containing 140 91 p.K91N(1) endometrium(4)|large_intestine(1)|prostate(1) 6 Renal(207;0.0376) Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCGTTTTGAAGAGTGCTGCGC 0.662 3 40 --- --- --- --- BCL6 604 broad.mit.edu 37 3 187447376 187447376 + Missense_Mutation SNP T T C rs139857005 TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr3:187447376T>C ENST00000406870.2 - 5 1183 c.817A>G c.(817-819)Atg>Gtg p.M273V RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.M273V|BCL6_ENST00000232014.4_Missense_Mutation_p.M273V|RP11-211G3.3_ENST00000437407.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 273 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.M273V(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CTGTAGTGCATATCACTTCGT 0.547 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 7 122 --- --- --- --- TNIP3 79931 broad.mit.edu 37 4 122075727 122075727 + Silent SNP A A G TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr4:122075727A>G ENST00000454328.1 - 7 698 c.471T>C c.(469-471)tgT>tgC p.C157C TNIP3_ENST00000057513.3_Silent_p.C157C|TNIP3_ENST00000509841.1_Silent_p.C234C|TNIP3_ENST00000507879.1_Silent_p.C227C Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 157 p.C157C(1) NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 GTTTTATTTCACATTCGTAAT 0.348 7 260 --- --- --- --- TLL1 7092 broad.mit.edu 37 4 166981195 166981195 + Missense_Mutation SNP T T C TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr4:166981195T>C ENST00000061240.2 + 15 2509 c.1862T>C c.(1861-1863)cTt>cCt p.L621P TLL1_ENST00000507499.1_Missense_Mutation_p.L644P NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 621 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGTGGTGGACTTCTTACCAAA 0.458 5 118 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32037587 32037587 + Missense_Mutation SNP C C T TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr6:32037587C>T ENST00000375244.3 - 15 5531 c.5330G>A c.(5329-5331)cGt>cAt p.R1777H TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H P22105 TENX_HUMAN tenascin XB 1859 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.R1864H(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTCCCCCAGACGGGGTTTTGG 0.582 3 42 --- --- --- --- DAAM2 23500 broad.mit.edu 37 6 39832798 39832798 + Missense_Mutation SNP A A G TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr6:39832798A>G ENST00000538976.1 + 5 558 c.376A>G c.(376-378)Agg>Ggg p.R126G DAAM2_ENST00000274867.4_Missense_Mutation_p.R126G|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000398904.2_Missense_Mutation_p.R126G NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 126 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding p.R126G(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) GACGGAGATGAGGAACCAAGT 0.557 OREG0017416 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 14 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529391 5529391 + Silent SNP T T C TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr11:5529391T>C ENST00000311659.4 - 2 1545 c.1398A>G c.(1396-1398)gcA>gcG p.A466A HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 466 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGAATGGCTGCCGTGGGGG 0.547 5 102 --- --- --- --- TRIM6 117854 broad.mit.edu 37 11 5632424 5632424 + Missense_Mutation SNP A A G TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr11:5632424A>G ENST00000380097.3 + 8 1645 c.1403A>G c.(1402-1404)gAg>gGg p.E468G AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000278302.5_Missense_Mutation_p.E440G|TRIM6_ENST00000380107.1_Missense_Mutation_p.E414G|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000515022.1_Missense_Mutation_p.E265G|TRIM6_ENST00000507320.1_Missense_Mutation_p.E265G|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.E265G|TRIM6_ENST00000445329.1_Missense_Mutation_p.E265G NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 p.E468G(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) TTAGATTATGAGGCTGGTACT 0.433 14 316 --- --- --- --- OR5B17 219965 broad.mit.edu 37 11 58126475 58126475 + Missense_Mutation SNP A A C TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr11:58126475A>C ENST00000357377.3 - 1 67 c.68T>G c.(67-69)gTt>gGt p.V23G NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V23G(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAAGAGGGGAACCTGTAGTTC 0.438 11 166 --- --- --- --- GRIA4 2893 broad.mit.edu 37 11 105774694 105774694 + Missense_Mutation SNP G G A TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr11:105774694G>A ENST00000393127.2 + 8 1486 c.1040G>A c.(1039-1041)aGg>aAg p.R347K GRIA4_ENST00000530497.1_Missense_Mutation_p.R347K|GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K|GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000525187.1_Missense_Mutation_p.R347K|GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 347 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GACATGGAGAGGACACTCAAA 0.398 4 111 --- --- --- --- DRD2 1813 broad.mit.edu 37 11 113295366 113295366 + Missense_Mutation SNP G G A TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr11:113295366G>A ENST00000362072.3 - 2 352 c.8C>T c.(7-9)cCa>cTa p.P3L DRD2_ENST00000544518.1_Missense_Mutation_p.P3L|DRD2_ENST00000346454.3_Missense_Mutation_p.P3L|DRD2_ENST00000542968.1_Missense_Mutation_p.P3L|DRD2_ENST00000355319.2_Missense_Mutation_p.P3L|DRD2_ENST00000538967.1_Missense_Mutation_p.P3L NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 3 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.P3L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CAGATTCAGTGGATCCATCAG 0.582 4 79 --- --- --- --- LRIG3 121227 broad.mit.edu 37 12 59267899 59267899 + Missense_Mutation SNP G G A TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr12:59267899G>A ENST00000320743.3 - 18 3339 c.3053C>T c.(3052-3054)tCc>tTc p.S1018F LRIG3_ENST00000379141.4_Missense_Mutation_p.S958F NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 1018 integral to membrane p.S1018F(2) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) ATCTAAAGAGGACTTGTTTAG 0.403 T ROS1 NSCLC 11 219 --- --- --- --- MED13L 23389 broad.mit.edu 37 12 116446661 116446661 + Silent SNP C C A TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr12:116446661C>A ENST00000281928.3 - 10 1763 c.1557G>T c.(1555-1557)gtG>gtT p.V519V NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 519 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent p.V519V(1) NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TACTGCTAGACACCTCTAAGG 0.453 7 97 --- --- --- --- P2RX2 22953 broad.mit.edu 37 12 133197607 133197607 + Silent SNP T T C TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr12:133197607T>C ENST00000389110.3 + 8 832 c.795T>C c.(793-795)atT>atC p.I265I P2RX2_ENST00000350048.5_Silent_p.I241I|P2RX2_ENST00000449132.2_Silent_p.I231I|P2RX2_ENST00000343948.4_Silent_p.I265I|P2RX2_ENST00000352418.4_Silent_p.I193I|P2RX2_ENST00000348800.5_Silent_p.I265I|P2RX2_ENST00000351222.4_Silent_p.I173I NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 265 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity p.I265I(1) NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) TCGGGGTCATTATCAACTGGG 0.637 5 84 --- --- --- --- MTHFD1 4522 broad.mit.edu 37 14 64909059 64909059 + Missense_Mutation SNP C C G TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr14:64909059C>G ENST00000545908.1 + 21 2472 c.2243C>G c.(2242-2244)cCc>cGc p.P748R MTHFD1_ENST00000216605.8_Missense_Mutation_p.P692R|CTD-2555O16.2_ENST00000556640.1_RNA P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 692 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding p.P692R(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GGCCTCTGCCCCCACGTGGTG 0.527 5 154 --- --- --- --- AK7 122481 broad.mit.edu 37 14 96909069 96909069 + Missense_Mutation SNP G G A TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr14:96909069G>A ENST00000267584.4 + 7 737 c.693G>A c.(691-693)atG>atA p.M231I NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 231 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.M231I(2) breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CCTTTCAGATGGCTTGGTTGG 0.443 13 402 --- --- --- --- UBTF 7343 broad.mit.edu 37 17 42293143 42293143 + Missense_Mutation SNP G G A TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr17:42293143G>A ENST00000302904.4 - 5 845 c.353C>T c.(352-354)cCt>cTt p.P118L UBTF_ENST00000526094.1_Missense_Mutation_p.P118L|UBTF_ENST00000529383.1_Missense_Mutation_p.P118L|UBTF_ENST00000533177.1_Missense_Mutation_p.P118L|UBTF_ENST00000343638.5_Missense_Mutation_p.P118L|UBTF_ENST00000393606.3_Missense_Mutation_p.P118L|UBTF_ENST00000527034.1_Missense_Mutation_p.P118L|UBTF_ENST00000436088.1_Missense_Mutation_p.P118L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000537550.1_5'UTR P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 118 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding p.P118L(1) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GCGGAAATAAGGGGTCAGGGG 0.488 7 162 --- --- --- --- SAMD14 201191 broad.mit.edu 37 17 48193048 48193048 + Silent SNP C C T TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr17:48193048C>T ENST00000330175.4 - 7 1019 c.702G>A c.(700-702)ccG>ccA p.P234P SAMD14_ENST00000503131.1_Silent_p.P234P NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 234 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 AAGGCAGGAACGGGGAGCCCC 0.642 7 191 --- --- --- --- SGSH 6448 broad.mit.edu 37 17 78188012 78188012 + Missense_Mutation SNP G G T TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr17:78188012G>T ENST00000326317.6 - 5 708 c.622C>A c.(622-624)Cca>Aca p.P208T SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Silent_p.S219S|SGSH_ENST00000534910.1_Missense_Mutation_p.P5T NM_000199.3 NP_000190.1 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase 208 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity p.P208T(1) central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GTCCAGTCTGGGATACGACCC 0.667 4 31 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71027051 71027051 + Frame_Shift_Del DEL T T - TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr3:71027051delT ENST00000318789.4 - 15 1801 c.1276delA c.(1276-1278)accfs p.T427fs FOXP1_ENST00000491238.1_Frame_Shift_Del_p.T429fs|FOXP1_ENST00000484350.1_Frame_Shift_Del_p.T351fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.T427fs NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 427 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) ATGCTGGTGGTTGTGATGACA 0.577 T PAX5 ALL 11 265 --- --- --- --- MED1 5469 broad.mit.edu 37 17 37566389 37566390 + Frame_Shift_Del DEL TA TA - TCGA-CH-5763-01A-11D-1576-08 TCGA-CH-5763-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 581be6cf-9778-49c3-9c77-1316eaa78929 b3c65fbf-e781-4a0c-b76d-8a6c4535ccef g.chr17:37566389_37566390delTA ENST00000300651.6 - 17 2307_2308 c.2084_2085delTA c.(2083-2085)ttafs p.L695fs MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 695 Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TCTCAGGTGGTAATCTTGATGA 0.460 HNSCC(31;0.082) 15 410 --- --- --- ---