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 MPP2 4355 broad.mit.edu 37 17 41958169 41958169 + Missense_Mutation SNP G G A rs143986614 by1000genomes TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr17:41958169G>A ENST00000269095.4 - 10 1344 c.1040C>T c.(1039-1041)cCg>cTg p.P347L MPP2_ENST00000518766.1_Missense_Mutation_p.P392L|MPP2_ENST00000461854.1_Missense_Mutation_p.P371L|MPP2_ENST00000536246.1_Missense_Mutation_p.P336L|MPP2_ENST00000523501.1_Missense_Mutation_p.P336L|MPP2_ENST00000520305.1_Missense_Mutation_p.P208L|MPP2_ENST00000377184.3_Missense_Mutation_p.P364L NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 371 signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCGGCGGAACGGGGGCATGCG 0.612000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 53 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160261696 160261696 + Silent SNP G G A TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr1:160261696G>A ENST00000241704.7 - 30 3400 c.3171C>T c.(3169-3171)tgC>tgT p.C1057C COPA_ENST00000368069.3_Silent_p.C1066C NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1057 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTACTCACGGCAAATGGTGA 0.522000 OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 190 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 58 3.59834e-05 3.59834e-05 1 1 0 ACSM3 6296 broad.mit.edu 37 16 20796355 20796355 + Missense_Mutation SNP A A T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr16:20796355A>T ENST00000289416.5 + 8 1544 c.1069A>T c.(1069-1071)Acc>Tcc p.T357S ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.T349S|ACSM3_ENST00000440284.2_Missense_Mutation_p.T357S NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 357 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 GGAACCAATTACCCCTGACGT 0.418000 5 49 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) 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) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 48 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70733319 70733319 + Missense_Mutation SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr10:70733319C>T ENST00000354185.4 + 10 1665 c.1567C>T c.(1567-1569)Cat>Tat p.H523Y NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 523 Helicase C-terminal. nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GTCCTACATTCATCGATCCGG 0.448000 3 32 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127641239 127641239 + Missense_Mutation SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr5:127641239C>T ENST00000508053.1 - 50 6612 c.5638G>A c.(5638-5640)Gcg>Acg p.A1880T FBN2_ENST00000262464.4_Missense_Mutation_p.A1880T P35556 FBN2_HUMAN fibrillin 2 1880 EGF-like 30; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTGAAACCCGCGGCACATTCA 0.458000 4 46 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197887022 197887022 + Silent SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr1:197887022C>T ENST00000367390.3 + 2 69 c.42C>T c.(40-42)caC>caT p.H14H LHX9_ENST00000367387.4_Silent_p.H23H|LHX9_ENST00000337020.2_Silent_p.H23H|LHX9_ENST00000561173.1_Silent_p.H29H|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367391.1_Silent_p.H14H NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 23 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 TGCTCTTTCACGGGATCTCCG 0.612000 4 103 0 0 1 0 0 C20orf96 140680 broad.mit.edu 37 20 257757 257757 + Silent SNP G G C TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr20:257757G>C ENST00000360321.2 - 8 891 c.753C>G c.(751-753)cgC>cgG p.R251R C20orf96_ENST00000400269.3_Silent_p.R193R|C20orf96_ENST00000382369.5_Silent_p.R216R NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 251 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) GGACCTTTCTGCGCATCTCAC 0.557000 7 158 0 0 1 0 0 TATDN2 9797 broad.mit.edu 37 3 10311971 10311971 + Missense_Mutation SNP A A G TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr3:10311971A>G ENST00000287652.4 + 4 2156 c.1105A>G c.(1105-1107)Atg>Gtg p.M369V RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.M369V NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 369 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 CGACTATGTCATGTACCCTCC 0.542000 7 146 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 5 64 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 5 60 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151864310 151864310 + Missense_Mutation SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr7:151864310C>T ENST00000355193.2 - 42 9889 c.9671G>A c.(9670-9672)cGt>cAt p.R3224H KMT2C_ENST00000262189.6_Missense_Mutation_p.R3224H lysine (K)-specific methyltransferase 2C TGGAAATTCACGCCCAGCTTT 0.408000 6 102 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61560877 61560877 + Missense_Mutation SNP C C T TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr17:61560877C>T ENST00000290866.4 + 10 1568 c.1544C>T c.(1543-1545)gCt>gTt p.A515V ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.L467L|ACE_ENST00000428043.1_Missense_Mutation_p.A515V NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 515 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CACTTTGATGCTGGAGCTAAG 0.493000 4 148 0 0 1 0 0 SEMA4F 10505 broad.mit.edu 37 2 74881511 74881511 + Frame_Shift_Del DEL C C - TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr2:74881511delC ENST00000357877.2 + 1 157 c.8delC c.(7-9)gcfs p.A3fs SEMA4F_ENST00000339773.5_Frame_Shift_Del_p.A3fs NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 3 cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 AAGATGCCGGCCTCTGCTGCG 0.761 2 4 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104601 102104601 + RNA DEL T T - TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr10:102104601delT ENST00000429420.1 - 0 103 AAAATCACAAttttttttttt 0.403 3 3 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082473 76082474 + RNA INS - - T rs34373540 TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr12:76082473_76082474insT ENST00000552856.1 - 0 401 ggtaattgaagttaaagcattc 0.312 3 5 --- --- --- --- RNFT2 84900 broad.mit.edu 37 12 117187692 117187692 + Frame_Shift_Del DEL G G - TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr12:117187692delG ENST00000257575.4 + 4 363 c.130delG c.(130-132)gcfs p.G44fs RNFT2_ENST00000407967.3_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000392549.2_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000319176.7_Frame_Shift_Del_p.G44fs Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 44 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) GGATGAAGGTGGCGTCTTTGA 0.617 2 4 --- --- --- --- KRT16P4 339244 broad.mit.edu 37 17 18334137 18334137 + RNA DEL A A - TCGA-S7-A7WV-01A-11D-A35I-08 TCGA-S7-A7WV-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123c0334-e846-4722-a45e-36e9ad256672 92b03487-2a3b-4f26-93f0-94e684b33db0 g.chr17:18334137delA ENST00000580052.1 + 0 43 GCCTCTTGGCAGGGGTGGGGC 0.567 3 5 --- --- --- ---