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 SV2A 9900 broad.mit.edu 37 1 149884966 149884966 + Missense_Mutation SNP T T C TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr1:149884966T>C ENST00000369146.3 - 2 917 c.427A>G c.(427-429)Aaa>Gaa p.K143E SV2A_ENST00000369145.1_Missense_Mutation_p.K143E NM_001278719.1|NM_014849.3 NP_001265648.1|NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 143 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TCTCGTTCTTTCCGTCGTTGT 0.637 23 45 --- --- --- --- ZNF648 127665 broad.mit.edu 37 1 182025561 182025561 + Nonsense_Mutation SNP C C A TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr1:182025561C>A ENST00000339948.3 - 2 1792 c.1585G>T c.(1585-1587)Gag>Tag p.E529* NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 TAGGGCCTCTCTCCGTTGTGC 0.612 3 29 --- --- --- --- LCT 3938 broad.mit.edu 37 2 136570301 136570301 + Silent SNP G G A TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr2:136570301G>A ENST00000264162.2 - 7 1943 c.1933C>T c.(1933-1935)Ctg>Ttg p.L645L NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 645 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TGGGTCCTCAGGGTGGCTGGG 0.577 5 80 --- --- --- --- ILDR1 286676 broad.mit.edu 37 3 121724129 121724129 + Missense_Mutation SNP C C T TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr3:121724129C>T ENST00000273691.3 - 3 446 c.341G>A c.(340-342)gGg>gAg p.G114E ILDR1_ENST00000462014.1_Missense_Mutation_p.G126E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.G114E|ILDR1_ENST00000393631.1_Missense_Mutation_p.G114E NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 114 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GTAATCTACCCCCAGCACGGG 0.642 3 32 --- --- --- --- LAMP3 27074 broad.mit.edu 37 3 182853620 182853620 + Silent SNP C C T TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr3:182853620C>T ENST00000265598.3 - 5 1257 c.1002G>A c.(1000-1002)ggG>ggA p.G334G LAMP3_ENST00000466939.1_Silent_p.G310G NM_014398.3 NP_055213.2 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 334 cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) TGAAGGAATGCCCGACTGCTG 0.468 5 383 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126372407 126372407 + Missense_Mutation SNP G G C TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr4:126372407G>C ENST00000394329.3 + 9 10249 c.10236G>C c.(10234-10236)caG>caC p.Q3412H FAT4_ENST00000335110.5_Missense_Mutation_p.Q1710H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3412 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACAGTGTGCAGATCAGTGAAG 0.463 83 90 --- --- --- --- PCDHGB1 56104 broad.mit.edu 37 5 140731932 140731932 + Missense_Mutation SNP C C T TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr5:140731932C>T ENST00000523390.1 + 1 2105 c.2105C>T c.(2104-2106)gCg>gTg p.A702V PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCTCCTCGCGGTGATTCTA 0.617 8 184 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100683689 100683689 + Missense_Mutation SNP C C T TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr7:100683689C>T ENST00000306151.4 + 3 9056 c.8992C>T c.(8992-8994)Ccg>Tcg p.P2998S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2998 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGCACCATGCCGGTGGCCAG 0.507 5 572 --- --- --- --- PDP1 54704 broad.mit.edu 37 8 94934399 94934399 + Missense_Mutation SNP T T C TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr8:94934399T>C ENST00000396200.3 + 3 463 c.187T>C c.(187-189)Tac>Cac p.Y63H PDP1_ENST00000297598.4_Missense_Mutation_p.Y38H|PDP1_ENST00000520728.1_Missense_Mutation_p.Y38H|PDP1_ENST00000517764.1_Missense_Mutation_p.Y38H NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 38 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 TTCCTCATCGTACATTCCTCA 0.468 32 85 --- --- --- --- KIAA1429 25962 broad.mit.edu 37 8 95538772 95538772 + Missense_Mutation SNP T T G TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr8:95538772T>G ENST00000297591.5 - 8 1775 c.1700A>C c.(1699-1701)aAa>aCa p.K567T KIAA1429_ENST00000437199.1_Missense_Mutation_p.K567T|KIAA1429_ENST00000421249.2_Missense_Mutation_p.K567T NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 567 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ACCAAGTCTTTTAATCTCTGA 0.418 202 123 --- --- --- --- DBH 1621 broad.mit.edu 37 9 136513016 136513016 + Missense_Mutation SNP G G A TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr9:136513016G>A ENST00000393056.2 + 6 1085 c.1073G>A c.(1072-1074)cGg>cAg p.R358Q NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 358 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCCAAGCTGCGGCGCTTCAAC 0.607 21 33 --- --- --- --- RECQL 5965 broad.mit.edu 37 12 21626537 21626537 + Silent SNP T T C TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr12:21626537T>C ENST00000444129.2 - 12 1863 c.1395A>G c.(1393-1395)gtA>gtG p.V465V RECQL_ENST00000421138.2_Silent_p.V465V NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 465 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 CTGAGTTCCATACTTCATCAA 0.323 Other identified genes with known or suspected DNA repair function 4 49 --- --- --- --- C15orf57 90416 broad.mit.edu 37 15 40855084 40855084 + Missense_Mutation SNP A A C TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr15:40855084A>C ENST00000358005.3 - 2 404 c.131T>G c.(130-132)gTg>gGg p.V44G C15orf57_ENST00000558113.1_Missense_Mutation_p.V44G|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44G|C15orf57_ENST00000559911.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558750.1_Missense_Mutation_p.V53G|C15orf57_ENST00000561011.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558871.1_Missense_Mutation_p.V44G NM_001080791.1|NM_052849.2 NP_001074260.1|NP_443081.1 Q9BV29 CO057_HUMAN chromosome 15 open reading frame 57 44 endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 9 GCAAGAATCCACAAAGGAGTC 0.512 24 233 --- --- --- --- CAPN3 825 broad.mit.edu 37 15 42681285 42681285 + Silent SNP C C T TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr15:42681285C>T ENST00000397163.3 + 5 1011 c.792C>T c.(790-792)tgC>tgT p.C264C CAPN3_ENST00000357568.3_Silent_p.C264C|CAPN3_ENST00000318023.7_Silent_p.C264C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.C177C|CAPN3_ENST00000349748.3_Silent_p.C264C NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 264 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TCATGGGCTGCTCCATTGATG 0.527 24 65 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36211883 36211883 + Missense_Mutation SNP G G A TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr19:36211883G>A ENST00000222270.7 + 3 1634 c.1634G>A c.(1633-1635)cGa>cAa p.R545Q KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R545Q|KMT2B_ENST00000341701.1_Intron NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B ACACCCCGGCGATTTATGGAT 0.587 7 8 --- --- --- --- HLA-DQA2 3118 broad.mit.edu 37 6 32712958 32712958 + Frame_Shift_Del DEL T T - TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce4c568d-84ca-4819-a08b-7dca4ad7fc1a f59ccc77-35be-4949-8994-517c407d30fd g.chr6:32712958delT ENST00000374940.3 + 2 207 c.105delT c.(103-105)ggtfs p.G35fs NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 35 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTCCTATGGTGTGAACTTCT 0.488 7 210 --- --- --- ---