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 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 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 8 79 1.06961e-07 1.06961e-07 1 1 0 MICAL2 9645 broad.mit.edu 37 11 12243220 12243220 + Silent SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr11:12243220C>T ENST00000256194.4 + 10 1524 c.1236C>T c.(1234-1236)gcC>gcT p.A412A MICAL2_ENST00000379612.3_Silent_p.A412A|MICAL2_ENST00000537344.1_Silent_p.A412A|MICAL2_ENST00000527546.1_Silent_p.A412A|MICAL2_ENST00000342902.5_Silent_p.A412A NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 412 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CAGGCTGTGCCCGTGGCTTCC 0.547000 6 90 0 0 1 0 0 P2RY1 5028 broad.mit.edu 37 3 152554691 152554691 + Nonstop_Mutation SNP T T A TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr3:152554691T>A ENST00000305097.3 + 1 1956 c.1120T>A c.(1120-1122)Tga>Aga p.*374R NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 0 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TACAAGCCTGTGAAGGCACAA 0.383000 6 19 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41749573 41749573 + Missense_Mutation SNP G G A rs144824336 TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr19:41749573G>A ENST00000301178.4 + 12 1688 c.1498G>A c.(1498-1500)Gtg>Atg p.V500M AXL_ENST00000359092.3_Missense_Mutation_p.V491M|AXL_ENST00000593513.1_Missense_Mutation_p.V232M NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 500 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 CAGGTACCGCGTGCGCAAGTC 0.557000 5 132 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 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 8 78 0 0 1 0 0 PRPH2 5961 broad.mit.edu 37 6 42689799 42689799 + Missense_Mutation SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr6:42689799C>T ENST00000230381.5 - 1 513 c.274G>A c.(274-276)Gcc>Acc p.A92T NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 92 cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) TTCCATCTGGCATACTTGGCT 0.547000 16 48 0 0 1 0 0 PIGW 284098 broad.mit.edu 37 17 34894046 34894046 + Nonsense_Mutation SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr17:34894046C>T ENST00000592983.1 + 2 1676 c.1096C>T c.(1096-1098)Cga>Tga p.R366* PIGW_ENST00000328396.2_Nonsense_Mutation_p.R366*|MYO19_ENST00000590081.1_Intron Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W 366 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGCAGTATCTCGAAGAATGGC 0.343000 23 31 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946323 16946323 + RNA SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr1:16946323C>T ENST00000412962.1 - 0 1196 GCAGAGGCCACGCCAGGGCTC 0.662000 3 5 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119914730 119914730 + Missense_Mutation SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr7:119914730C>T ENST00000331113.4 + 1 1009 c.44C>T c.(43-45)gCg>gTg p.A15V NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 15 Interaction with KCNIP2. regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GCAAGGGCAGCGGCTATCGGG 0.602000 12 209 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811117 140811117 + Silent SNP C C T rs62344938 TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr4:140811117C>T ENST00000509479.2 - 2 2329 c.1473G>A c.(1471-1473)caG>caA p.Q491Q MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 491 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgttgct 0.547000 3 18 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433372 72433372 + Silent SNP G G C TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chrX:72433372G>C ENST00000373517.3 - 1 1312 c.957C>G c.(955-957)ccC>ccG p.P319P NAP1L2_ENST00000536638.1_Silent_p.P177P NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 319 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TTCCCCTATAGGGATGGGGAT 0.378000 5 59 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 5 116 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44560645 44560645 + Missense_Mutation SNP T T C TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr7:44560645T>C ENST00000289547.4 - 13 3081 c.3026A>G c.(3025-3027)cAt>cGt p.H1009R NPC1L1_ENST00000381160.3_Missense_Mutation_p.H1009R|NPC1L1_ENST00000546276.1_Missense_Mutation_p.H963R NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1009 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AAGATACTTATGGAACTGCTC 0.557000 6 166 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 61 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60886280 60886280 + Silent SNP C C T TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr20:60886280C>T ENST00000252999.3 - 73 10092 c.10026G>A c.(10024-10026)caG>caA p.Q3342Q NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3342 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACCCCCAAACTGGTAGGAGT 0.687000 10 23 0 0 1 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 4 7 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 7 52 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112654134 112654135 + Frame_Shift_Del DEL TG TG - TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr12:112654134_112654135delTG ENST00000550722.1 - 48 7383_7384 c.6988_6989delCA c.(6988-6990)gfs p.Q2330fs HECTD4_ENST00000430131.2_Frame_Shift_Del_p.Q2054fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.Q2304fs NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCTCTTCCACTGTAACAAACTG 0.495 2 4 --- --- --- --- IL27 246778 broad.mit.edu 37 16 28511175 28511177 + In_Frame_Del DEL TCT TCT - TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6daca770-9655-4159-a5bd-09065d684629 199e0ae8-07df-41ee-b4bb-13464fcac026 g.chr16:28511175_28511177delTCT ENST00000356897.1 - 5 549_551 c.527_529delAGA c.(526-531)ggg>g p.ER176del NM_145659.3 NP_663634.2 Q8NEV9 IL27A_HUMAN interleukin 27 176 Glu-rich. inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 AGCCCCTtcctctcctcctcctc 0.680 4 8 --- --- --- ---