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 GRIK3 2899 broad.mit.edu 37 1 37346388 37346388 + Missense_Mutation SNP T T G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr1:37346388T>G ENST00000373091.3 - 3 413 c.397A>C c.(397-399)Atc>Ctc p.I133L GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 133 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGCAGCTGGATGTGGGGCACC 0.622 20 38 --- --- --- --- NRD1 4898 broad.mit.edu 37 1 52280418 52280418 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr1:52280418C>T ENST00000354831.7 - 14 1900 c.1711G>A c.(1711-1713)Gtg>Atg p.V571M NRD1_ENST00000539524.1_Missense_Mutation_p.V439M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.V503M|NRD1_ENST00000544028.1_Missense_Mutation_p.V371M NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 502 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ATGCTGAACACTGAATAAGTA 0.353 12 18 --- --- --- --- SLC8A1 6546 broad.mit.edu 37 2 40657386 40657386 + Missense_Mutation SNP G G C rs142661656 byFrequency TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr2:40657386G>C ENST00000406785.2 - 2 224 c.35C>G c.(34-36)aCc>aGc p.T12S SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CATTGAAAAGGTGGGTGAAAG 0.408 9 30 --- --- --- --- CNTNAP5 129684 broad.mit.edu 37 2 125281979 125281979 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr2:125281979C>T ENST00000431078.1 + 9 1788 c.1424C>T c.(1423-1425)cCa>cTa p.P475L NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 475 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCCCCGGCTCCAGACAGCACT 0.483 6 27 --- --- --- --- UBXN4 23190 broad.mit.edu 37 2 136527363 136527363 + Silent SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr2:136527363G>A ENST00000272638.9 + 7 938 c.627G>A c.(625-627)agG>agA p.R209R UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 209 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 TTGAAGAAAGGAGAGAAGAGA 0.303 6 32 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233677165 233677165 + Missense_Mutation SNP A A G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr2:233677165A>G ENST00000373566.3 + 19 2334 c.2137A>G c.(2137-2139)Atc>Gtc p.I713V GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I691V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 691 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TACTGGCTCTATCTGGGAGCT 0.383 5 26 --- --- --- --- XIRP1 165904 broad.mit.edu 37 3 39225934 39225934 + Missense_Mutation SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr3:39225934G>A ENST00000340369.3 - 2 5231 c.5003C>T c.(5002-5004)tCc>tTc p.S1668F XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1668 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGTTGGGGAGGAGGGAGAATC 0.537 13 61 --- --- --- --- PRSS48 345062 broad.mit.edu 37 4 152212552 152212552 + Missense_Mutation SNP T T G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr4:152212552T>G ENST00000455694.2 + 5 936 c.934T>G c.(934-936)Tgc>Ggc p.C312G PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 312 proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 AGCTGTTGCTTGCATACAGGG 0.498 13 23 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145890149 145890149 + Missense_Mutation SNP C C G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr5:145890149C>G ENST00000296702.5 + 22 3279 c.3241C>G c.(3241-3243)Cgg>Ggg p.R1081G TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 1081 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGGATCGCCGGGGTCCACC 0.463 6 30 --- --- --- --- USP42 84132 broad.mit.edu 37 7 6187373 6187373 + Silent SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr7:6187373C>T ENST00000306177.5 + 12 1394 c.1236C>T c.(1234-1236)tcC>tcT p.S412S NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 412 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TTTCCAGGTCCCATGATGTGA 0.517 6 26 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100371059 100371059 + RNA SNP C C A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr7:100371059C>A ENST00000542585.1 + 0 5725 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGAGTGGAACCTCCTGCGTGC 0.632 13 16 --- --- --- --- GRM8 2918 broad.mit.edu 37 7 126746596 126746596 + Nonsense_Mutation SNP A A T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr7:126746596A>T ENST00000339582.2 - 3 1489 c.681T>A c.(679-681)taT>taA p.Y227* GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227* O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 227 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CGCTCTCACCATAGTTCCCCT 0.507 HNSCC(24;0.065) 12 26 --- --- --- --- PIWIL2 55124 broad.mit.edu 37 8 22137065 22137065 + Missense_Mutation SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr8:22137065G>A ENST00000356766.6 + 2 314 c.166G>A c.(166-168)Gaa>Aaa p.E56K PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E56K NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 56 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) AAAGCCAGAGGAACCAAGCAC 0.562 11 21 --- --- --- --- YPEL4 219539 broad.mit.edu 37 11 57413471 57413471 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr11:57413471C>T ENST00000524669.1 - 5 3089 c.367G>A c.(367-369)Gac>Aac p.D123N AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N|YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N Q96NS1 YPEL4_HUMAN yippee-like 4 (Drosophila) 123 nucleolus lung(2)|skin(1) 3 CAGCCGTTGTCCTTCACCATG 0.547 22 33 --- --- --- --- ARHGEF17 9828 broad.mit.edu 37 11 73020726 73020726 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr11:73020726C>T ENST00000263674.3 + 1 1393 c.1043C>T c.(1042-1044)tCt>tTt p.S348F NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 348 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GGTAGTGGCTCTCCGCCCTGC 0.612 21 39 --- --- --- --- TM7SF3 51768 broad.mit.edu 37 12 27143491 27143491 + Missense_Mutation SNP A A G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr12:27143491A>G ENST00000343028.4 - 6 985 c.760T>C c.(760-762)Tac>Cac p.Y254H TM7SF3_ENST00000542667.1_Intron NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 254 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) ATGACATTGTATATGACACCT 0.453 7 52 --- --- --- --- SLC16A7 9194 broad.mit.edu 37 12 60173227 60173227 + Missense_Mutation SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr12:60173227G>A ENST00000261187.4 + 5 1368 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K NM_004731.4 NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 402 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity p.E402*(1) endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TTTAACTGGAGAATATAAATA 0.343 13 30 --- --- --- --- SOX1 6656 broad.mit.edu 37 13 112722311 112722311 + Silent SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr13:112722311G>A ENST00000330949.1 + 1 399 c.339G>A c.(337-339)aaG>aaA p.K113K NM_005986.2 NP_005977.2 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 113 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4) 4 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) TGCACATGAAGGAGCACCCGG 0.677 5 26 --- --- --- --- PLA2G4E 123745 broad.mit.edu 37 15 42279575 42279575 + Splice_Site SNP T T G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr15:42279575T>G ENST00000399518.3 - 17 2318 c.e17-2 PLA2G4E_ENST00000413860.2_Splice_Site|CTD-2382E5.1_ENST00000499478.2_RNA NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GCTCGTCTTCTGCAGGGGAGG 0.577 4 12 --- --- --- --- RGS9BP 388531 broad.mit.edu 37 19 33167292 33167292 + Silent SNP A A G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr19:33167292A>G ENST00000334176.3 + 1 980 c.123A>G c.(121-123)caA>caG p.Q41Q NM_207391.2 NP_997274.2 Q6ZS82 R9BP_HUMAN regulator of G protein signaling 9 binding protein 41 negative regulation of signal transduction integral to membrane central_nervous_system(1)|lung(2) 3 Esophageal squamous(110;0.137) AGGAGCTGCAAAAGACGCGCC 0.706 7 13 --- --- --- --- CYP2B6 1555 broad.mit.edu 37 19 41510021 41510021 + Missense_Mutation SNP C C A rs144760726 byFrequency TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr19:41510021C>A ENST00000324071.4 + 2 294 c.287C>A c.(286-288)tCt>tAt p.S96Y CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y|CYP2B6_ENST00000598834.1_3'UTR NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 96 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GAGGCCTTCTCTGGCCGGGGA 0.637 10 49 --- --- --- --- PCSK2 5126 broad.mit.edu 37 20 17207956 17207956 + Missense_Mutation SNP G G C TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr20:17207956G>C ENST00000262545.2 + 1 321 c.6G>C c.(4-6)aaG>aaC p.K2N PCSK2_ENST00000377899.1_Intron|PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 2 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAAGGATGAAGGGTGGTTGTG 0.532 9 38 --- --- --- --- BPIFB4 149954 broad.mit.edu 37 20 31680313 31680313 + Missense_Mutation SNP G G T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr20:31680313G>T ENST00000375483.3 + 9 1193 c.1193G>T c.(1192-1194)tGg>tTg p.W398L NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 398 cytoplasm|extracellular region lipid binding CCATTGGGGTGGCCAGCTGTG 0.597 9 17 --- --- --- --- TMEM31 203562 broad.mit.edu 37 X 102968708 102968708 + Missense_Mutation SNP T T A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chrX:102968708T>A ENST00000319560.6 + 3 480 c.289T>A c.(289-291)Ttt>Att p.F97I GLRA4_ENST00000372617.4_Intron NM_182541.2 NP_872347.2 Q5JXX7 TMM31_HUMAN transmembrane protein 31 97 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3) 7 TTATCCTGAATTTCTTCTGGT 0.463 18 34 --- --- --- --- MYOF 26509 broad.mit.edu 37 10 95072931 95072931 + Frame_Shift_Del DEL G G - TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr10:95072931delG ENST00000371501.4 - 51 5857 c.5735delC c.(5734-5736)cctfs p.P1912fs MYOF_ENST00000371502.4_Frame_Shift_Del_p.P1902fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.P1912fs Q9NZM1 MYOF_HUMAN myoferlin 1912 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGATTTTGCAGGAATGATCGT 0.468 71 63 --- --- --- --- ANKRD13A 88455 broad.mit.edu 37 12 110475354 110475354 + Frame_Shift_Del DEL A A - TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr12:110475354delA ENST00000261739.4 + 15 1934 c.1768delA c.(1768-1770)aaafs p.K590fs C12orf76_ENST00000546651.2_Intron NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 590 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 ACTCACTGACAAATAGACCTT 0.572 11 12 --- --- --- ---