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 CEP350 9857 broad.mit.edu 37 1 180022212 180022212 + Missense_Mutation SNP C C A TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr1:180022212C>A ENST00000367607.3 + 23 5318 c.4900C>A c.(4900-4902)Cgc>Agc p.R1634S NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1634 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AGAGAGTCACCGCAGATTTAA 0.378000 3 15 0.115264 0.115264 1 1 0 PWP2 5822 broad.mit.edu 37 21 45542224 45542224 + Silent SNP C C T TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr21:45542224C>T ENST00000291576.7 + 14 1930 c.1803C>T c.(1801-1803)caC>caT p.H601H NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 601 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CAGCCAAGCACGCGGCCAAGG 0.587000 18 25 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 69 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46915066 46915066 + Silent SNP A A G TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr19:46915066A>G ENST00000307522.3 - 1 1775 c.1002T>C c.(1000-1002)aaT>aaC p.N334N NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 334 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTTCCCTCTGATTATCTGCAG 0.597000 5 159 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73830422 73830422 + Missense_Mutation SNP C C T TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr17:73830422C>T ENST00000207549.4 - 23 2661 c.2282G>A c.(2281-2283)cGc>cAc p.R761H UNC13D_ENST00000412096.2_Missense_Mutation_p.R761H NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 761 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCCAGGGTGCGGACGCCAGT 0.682000 Familial Hemophagocytic Lymphohistiocytosis 3 10 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59485502 59485502 + Missense_Mutation SNP G G A TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr17:59485502G>A ENST00000240328.3 + 7 2055 c.1774G>A c.(1774-1776)Gcc>Acc p.A592T RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 592 Ala-rich. cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 ggctttgcccgccactagtgc 0.672000 3 15 0 0 1 0 0 EEF1DP3 0 broad.mit.edu 37 13 32527237 32527237 + RNA SNP G G A TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr13:32527237G>A ENST00000428783.1 + 0 937 CCGCGCTGGTGGCCAAGTCCT 0.627000 3 19 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19525140 19525140 + Silent SNP G G A TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr1:19525140G>A ENST00000375267.2 - 5 546 c.543C>T c.(541-543)agC>agT p.S181S UBR4_ENST00000375226.2_Silent_p.S181S|UBR4_ENST00000375254.3_Silent_p.S181S|UBR4_ENST00000375217.2_Silent_p.S181S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 181 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.V180fs*18(1) 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) TCAACTCAGGGCTTACTGGTG 0.443000 20 28 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50098775 50098775 + Missense_Mutation SNP G G T TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr19:50098775G>T ENST00000418929.2 + 4 1195 c.1183G>T c.(1183-1185)Ggt>Tgt p.G395C NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 135 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGGCAAAGGTGGTTATGGAGC 0.701000 3 9 6.4e-05 6.93333e-05 1 1 0 TRIP11 9321 broad.mit.edu 37 14 92484052 92484052 + Missense_Mutation SNP T T C TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr14:92484052T>C ENST00000267622.4 - 5 1004 c.631A>G c.(631-633)Ata>Gta p.I211V NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 211 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) AGTTTACATATTTCACTTTGA 0.299000 T PDGFRB AML 7 8 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82369389 82369389 + Missense_Mutation SNP T T C TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr4:82369389T>C ENST00000509081.1 - 5 706 c.485A>G c.(484-486)aAg>aGg p.K162R RASGEF1B_ENST00000264400.2_Missense_Mutation_p.K163R|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.K121R Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 163 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 CGCAGCAAGCTTGCGGATCAG 0.483000 5 93 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17982398 17982398 + Frame_Shift_Del DEL G G - TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr1:17982398delG ENST00000361221.3 + 24 2665 c.2506delG c.(2506-2508)ggfs p.G837fs ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.G798fs|ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.G610fs|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.G832fs|ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.G540fs|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.G798fs NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 837 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GGAAGGCGCAGGGGGCCAGGT 0.642 2 4 --- --- --- --- ALMS1P 0 broad.mit.edu 37 2 73902182 73902183 + RNA INS - - A TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr2:73902182_73902183insA ENST00000450720.1 + 0 985 NR_003683.2 TTATGGCACTGAAAAAAAAAGT 0.347 2 4 --- --- --- --- KIF5C 3800 broad.mit.edu 37 2 149793841 149793841 + Frame_Shift_Del DEL T T - TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr2:149793841delT ENST00000435030.1 + 4 703 c.335delT c.(334-336)atfs p.I112fs KIF5C_ENST00000414838.2_Frame_Shift_Del_p.I17fs O60282 KIF5C_HUMAN kinesin family member 5C 112 Kinesin-motor. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) ATCCCACGAATTGCCCATGAT 0.493 2 4 --- --- --- --- MLXIPL 51085 broad.mit.edu 37 7 73020366 73020366 + Frame_Shift_Del DEL C C - TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr7:73020366delC ENST00000313375.3 - 6 741 c.694delG c.(694-696)acfs p.D232fs MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000354613.1_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000434326.1_Intron|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.D232fs NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 232 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TCCTCTGGGTCCCCCAGCAGC 0.632 2 4 --- --- --- --- FBXO7 25793 broad.mit.edu 37 22 32889228 32889228 + Frame_Shift_Del DEL C C - TCGA-FK-A4UB-01A-11D-A257-08 TCGA-FK-A4UB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27a87b73-18e7-4a46-919a-b8d2c61b7e68 ec0b1542-f2d7-40f1-8adb-c3d1e579be03 g.chr22:32889228delC ENST00000266087.7 + 7 1431 c.1104delC c.(1102-1104)gafs p.D368fs FBXO7_ENST00000382058.3_Frame_Shift_Del_p.D289fs|FBXO7_ENST00000397426.1_Frame_Shift_Del_p.D254fs NM_012179.3 NP_036311.3 Q9Y3I1 FBX7_HUMAN F-box protein 7 368 F-box. cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTTCAAATGACCCACTCCTGT 0.438 23 52 --- --- --- ---