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 CFH 3075 broad.mit.edu 37 1 196684882 196684882 + Missense_Mutation SNP A A G TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr1:196684882A>G ENST00000367429.4 + 11 1919 c.1679A>G c.(1678-1680)gAt>gGt p.D560G NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 560 Sushi 9. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GGTTGGTCTGATTTACCCATA 0.328 15 137 --- --- --- --- MEMO1 51072 broad.mit.edu 37 2 32145945 32145945 + Missense_Mutation SNP C C A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr2:32145945C>A ENST00000295065.5 - 4 556 c.247G>T c.(247-249)Gtg>Ttg p.V83L MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L|MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) GAGAGGGGCACATGATGAGAA 0.373 31 69 --- --- --- --- HEATR5B 54497 broad.mit.edu 37 2 37280709 37280709 + Missense_Mutation SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr2:37280709G>A ENST00000233099.5 - 17 2536 c.2441C>T c.(2440-2442)gCt>gTt p.A814V HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 814 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GACACCTTTAGCTTGTTTAAC 0.318 12 36 --- --- --- --- DNAH1 25981 broad.mit.edu 37 3 52430809 52430809 + Missense_Mutation SNP A A T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr3:52430809A>T ENST00000420323.2 + 72 11867 c.11606A>T c.(11605-11607)tAc>tTc p.Y3869F NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3934 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GACATCCCCTACAAGGTGGGC 0.597 80 197 --- --- --- --- UMPS 7372 broad.mit.edu 37 3 124449418 124449418 + Missense_Mutation SNP T T C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr3:124449418T>C ENST00000232607.2 + 1 206 c.100T>C c.(100-102)Tcc>Ccc p.S34P UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 34 OPRTase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) CGGGCTTTCCTCCCCCATCTA 0.602 3 98 --- --- --- --- ADAM29 11086 broad.mit.edu 37 4 175897613 175897613 + Missense_Mutation SNP T T C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr4:175897613T>C ENST00000359240.3 + 5 1607 c.937T>C c.(937-939)Tgt>Cgt p.C313R ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R|ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R|ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 313 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ACACCGTAGTTGTGCAATTGT 0.418 40 90 --- --- --- --- CSF1R 1436 broad.mit.edu 37 5 149452922 149452922 + Missense_Mutation SNP A A G TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr5:149452922A>G ENST00000286301.3 - 7 1315 c.1024T>C c.(1024-1026)Ttt>Ctt p.F342L CSF1R_ENST00000543093.1_Intron NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 342 Ig-like C2-type 4. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TGGTCAGAAAAGGGTCCCAGG 0.567 4 254 --- --- --- --- PTK7 5754 broad.mit.edu 37 6 43097526 43097526 + Missense_Mutation SNP G G C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr6:43097526G>C ENST00000230419.4 + 3 650 c.429G>C c.(427-429)caG>caC p.Q143H PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H|PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H|PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 143 Ig-like C2-type 2. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TCCAGCCACAGACCCAGGTCA 0.592 OREG0017449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 78 --- --- --- --- SERINC1 57515 broad.mit.edu 37 6 122779772 122779772 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr6:122779772C>T ENST00000339697.4 - 2 178 c.94G>A c.(94-96)Gga>Aga p.G32R NM_020755.2 NP_065806.1 Q9NRX5 SERC1_HUMAN serine incorporator 1 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) GAGTTGTTTCCACTAGGACAG 0.373 53 108 --- --- --- --- RNF217-AS1 7955 broad.mit.edu 37 6 125233565 125233565 + RNA SNP G G T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr6:125233565G>T ENST00000439075.1 - 0 1180 NR_026876.1 TTTTCTAATGGCTATCTTGTT 0.378 7 45 --- --- --- --- DPP6 1804 broad.mit.edu 37 7 154379675 154379675 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr7:154379675C>T ENST00000406326.1 + 6 1346 c.943C>T c.(943-945)Ctc>Ttc p.L315F DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 0 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ACCTGCAGCCCTCAGGCAGCA 0.587 69 112 --- --- --- --- DAPK1 1612 broad.mit.edu 37 9 90252885 90252885 + Silent SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr9:90252885C>T ENST00000469640.2 + 4 687 c.312C>T c.(310-312)ttC>ttT p.F104F DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000491893.1_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F|DAPK1_ENST00000408954.3_Silent_p.F104F P53355 DAPK1_HUMAN death-associated protein kinase 1 104 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TGTTTGACTTCTTAGCTGAAA 0.418 Chronic Lymphocytic Leukemia, Familial Clustering of 8 93 --- --- --- --- KRTAP5-4 387267 broad.mit.edu 37 11 1643175 1643175 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr11:1643175C>T ENST00000399682.1 - 1 193 c.149G>A c.(148-150)tGt>tAt p.C50Y NM_001012709.1 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 50 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GATGGGCACACAGCAGCTGGa 0.682 73 149 --- --- --- --- DLG2 1740 broad.mit.edu 37 11 83243769 83243769 + Silent SNP T T C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr11:83243769T>C ENST00000398309.2 - 16 2330 c.1860A>G c.(1858-1860)ggA>ggG p.G620G DLG2_ENST00000376104.2_Silent_p.G725G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000532653.1_Silent_p.G620G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000524982.1_Silent_p.G620G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000531015.1_Silent_p.G587G NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 620 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AATCAATCACTCCAGGTTTGG 0.398 40 57 --- --- --- --- CYP27B1 1594 broad.mit.edu 37 12 58158697 58158697 + Missense_Mutation SNP A A G TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr12:58158697A>G ENST00000228606.4 - 5 1012 c.803T>C c.(802-804)gTg>gCg p.V268A NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 268 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) TCGCCGCTCCACGTGCCTCTG 0.607 41 84 --- --- --- --- ACSS3 79611 broad.mit.edu 37 12 81648693 81648693 + Missense_Mutation SNP C C A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr12:81648693C>A ENST00000548058.1 + 16 2963 c.2053C>A c.(2053-2055)Caa>Aaa p.Q685K ACSS3_ENST00000261206.3_Missense_Mutation_p.Q684K|ACSS3_ENST00000548324.1_Missense_Mutation_p.Q367K Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 685 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 AATGCTGAAGCAAGCATAATG 0.303 3 62 --- --- --- --- POSTN 10631 broad.mit.edu 37 13 38158190 38158190 + Missense_Mutation SNP G G T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr13:38158190G>T ENST00000379747.4 - 9 1276 c.1159C>A c.(1159-1161)Ctt>Att p.L387I POSTN_ENST00000379743.4_Missense_Mutation_p.L387I|POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379749.4_Missense_Mutation_p.L387I|POSTN_ENST00000541179.1_Missense_Mutation_p.L387I|POSTN_ENST00000541481.1_Missense_Mutation_p.L387I NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 387 FAS1 3. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TGGGCCACAAGATCCGTGAAG 0.438 12 34 --- --- --- --- CEBPE 1053 broad.mit.edu 37 14 23587880 23587880 + Silent SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr14:23587880G>A ENST00000206513.5 - 1 945 c.421C>T c.(421-423)Ctg>Ttg p.L141L NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 141 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TGGTACTGCAGGGGATTGTAG 0.677 15 21 --- --- --- --- CRAMP1L 57585 broad.mit.edu 37 16 1709961 1709961 + Silent SNP G G A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr16:1709961G>A ENST00000397412.3 + 11 2409 c.2310G>A c.(2308-2310)ggG>ggA p.G770G CRAMP1L_ENST00000293925.5_Silent_p.G770G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Silent_p.G148G|CRAMP1L_ENST00000436138.3_Silent_p.G767G Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 770 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CGCCCCCAGGGAAGGTGGTGA 0.637 18 35 --- --- --- --- CRAMP1L 57585 broad.mit.edu 37 16 1709962 1709962 + Missense_Mutation SNP A A G TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr16:1709962A>G ENST00000397412.3 + 11 2410 c.2311A>G c.(2311-2313)Aag>Gag p.K771E CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 771 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GCCCCCAGGGAAGGTGGTGAC 0.637 18 34 --- --- --- --- KRI1 65095 broad.mit.edu 37 19 10670558 10670558 + Silent SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr19:10670558C>T ENST00000312962.6 - 10 892 c.873G>A c.(871-873)gaG>gaA p.E291E KRI1_ENST00000361821.5_Silent_p.E287E NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 291 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TCAGAAACAGCTCCCCTTCGT 0.592 11 27 --- --- --- --- ZNF615 284370 broad.mit.edu 37 19 52498074 52498074 + Missense_Mutation SNP A A T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr19:52498074A>T ENST00000602063.1 - 6 604 c.255T>A c.(253-255)gaT>gaA p.D85E ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E Q8N8J6 ZN615_HUMAN zinc finger protein 615 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCAGAGGATCATCAATTTTCC 0.328 6 37 --- --- --- --- ATP9A 10079 broad.mit.edu 37 20 50244193 50244193 + Silent SNP C C A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr20:50244193C>A ENST00000338821.5 - 17 2055 c.1791G>T c.(1789-1791)cgG>cgT p.R597R ATP9A_ENST00000402822.1_Silent_p.R476R|ATP9A_ENST00000311637.5_Silent_p.R461R NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 597 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CCACGAGCACCCGCAGCCCTT 0.567 104 264 --- --- --- --- CYP24A1 1591 broad.mit.edu 37 20 52779274 52779274 + Silent SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr20:52779274C>T ENST00000216862.3 - 7 1365 c.972G>A c.(970-972)caG>caA p.Q324Q CYP24A1_ENST00000395955.3_Silent_p.Q324Q|CYP24A1_ENST00000395954.3_Silent_p.Q182Q NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 324 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CCGCAGCCAGCTGGAGCTCTG 0.418 8 59 --- --- --- --- CYP24A1 1591 broad.mit.edu 37 20 52779277 52779277 + Silent SNP G G T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr20:52779277G>T ENST00000216862.3 - 7 1362 c.969C>A c.(967-969)ctC>ctA p.L323L CYP24A1_ENST00000395955.3_Silent_p.L323L|CYP24A1_ENST00000395954.3_Silent_p.L181L NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 323 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CAGCCAGCTGGAGCTCTGTGA 0.418 9 59 --- --- --- --- TOP3B 8940 broad.mit.edu 37 22 22324625 22324625 + Missense_Mutation SNP C C T TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr22:22324625C>T ENST00000398793.2 - 6 972 c.538G>A c.(538-540)Gct>Act p.A180T TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T|TOP3B_ENST00000413067.2_Intron NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 180 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) TCCTGGCGAGCATCCACTGAG 0.622 7 72 --- --- --- --- GK 2710 broad.mit.edu 37 X 30737631 30737631 + Splice_Site SNP G G C TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chrX:30737631G>C ENST00000378943.3 + 14 1311 c.1132G>C c.(1132-1134)Ggg>Cgg p.G378R GK_ENST00000378946.3_Splice_Site_p.G384R|GK_ENST00000378945.3_Splice_Site_p.G378R|RP11-242C19.2_ENST00000497961.1_RNA|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000427190.1_Splice_Site_p.G179R NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase 384 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 CAGCGCAAGAGGGTAAGTATT 0.353 29 15 --- --- --- --- MAGEC3 139081 broad.mit.edu 37 X 140983190 140983190 + Missense_Mutation SNP C C A TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chrX:140983190C>A ENST00000298296.1 + 5 1045 c.1045C>A c.(1045-1047)Caa>Aaa p.Q349K MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 349 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GGCCAATCCTCAAGGTAAGGG 0.577 45 27 --- --- --- --- MED26 9441 broad.mit.edu 37 19 16688490 16688490 + Frame_Shift_Del DEL T T - TCGA-EJ-7788-01A-11D-2114-08 TCGA-EJ-7788-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea80f854-fec4-4811-9bec-038808522568 8dc89778-02e1-41c1-9b74-554f60f86c4d g.chr19:16688490delT ENST00000263390.3 - 3 413 c.151delA c.(151-153)acafs p.T51fs CTC-429P9.4_ENST00000593962.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs NM_004831.3 NP_004822.2 O95402 MED26_HUMAN mediator complex subunit 26 51 TFIIS N-terminal. regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 8 CCAAGTCGTGTTTCCTACAAC 0.537 23 44 --- --- --- ---