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 SPNS3 201305 broad.mit.edu 37 17 4349448 4349448 + Missense_Mutation SNP C C T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr17:4349448C>T ENST00000355530.2 + 4 788 c.508C>T c.(508-510)Cgc>Tgc p.R170C SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.R43C NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 170 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 GAGGGACCAGCGCACCCGCGT 0.617000 4 63 0 0 1 0 0 RP11-542C16.2 0 broad.mit.edu 37 17 7217479 7217479 + Splice_Site SNP C C T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr17:7217479C>T ENST00000575474.1 - 13 1809 c.e13-1 GPS2_ENST00000389167.5_Splice_Site|GPS2_ENST00000380728.2_Splice_Site|GPS2_ENST00000391950.3_Splice_Site GGTCAGGTCACTGGAGTGAAA 0.493000 6 42 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766817 77766817 + Missense_Mutation SNP A A T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr8:77766817A>T ENST00000521891.2 + 10 8108 c.7660A>T c.(7660-7662)Agt>Tgt p.S2554C ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2509C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2509C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2528C NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2509 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTGCTGGGCAGTTCCCTCAC 0.512000 HNSCC(33;0.089) 20 61 0 0 1 0 0 DTX4 23220 broad.mit.edu 37 11 58959580 58959580 + Missense_Mutation SNP A A G TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr11:58959580A>G ENST00000227451.3 + 6 1335 c.1231A>G c.(1231-1233)Atc>Gtc p.I411V DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.I305V NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 411 Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) GGACTGCACCATCTGTATGGA 0.582000 7 49 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74345121 74345121 + Missense_Mutation SNP C C T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr9:74345121C>T ENST00000377044.4 - 9 2361 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K TMEM2_ENST00000377066.5_Missense_Mutation_p.E545K NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 608 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ATACCATCTTCCAAAAAGAAA 0.403000 4 37 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50376383 50376383 + Missense_Mutation SNP A A G TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chrX:50376383A>G ENST00000376020.2 - 4 2715 c.2690T>C c.(2689-2691)gTc>gCc p.V897A SHROOM4_ENST00000289292.7_Missense_Mutation_p.V897A|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V781A NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 897 Cys-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) AGGATCATGGACTAGAGCTCC 0.453000 10 8 0 0 1 0 0 CD48 962 broad.mit.edu 37 1 160654876 160654876 + Silent SNP G G A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr1:160654876G>A ENST00000368045.3 - 2 225 c.186C>T c.(184-186)ttC>ttT p.F62F CD48_ENST00000368046.3_Silent_p.F62F P09326 CD48_HUMAN CD48 molecule 62 Ig-like C2-type 1. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TCTTCTGGTCGAAAGTATAAA 0.443000 7 63 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212798295 212798295 + Missense_Mutation SNP G G T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr1:212798295G>T ENST00000294829.3 + 1 507 c.76G>T c.(76-78)Ggg>Tgg p.G26W RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 26 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CACCACCATGGGGAAACTGCA 0.483000 6 36 8.12818e-05 8.30488e-05 1 1 0 VN1R2 317701 broad.mit.edu 37 19 53762190 53762190 + Missense_Mutation SNP G G A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr19:53762190G>A ENST00000341702.3 + 1 646 c.562G>A c.(562-564)Gtg>Atg p.V188M NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 188 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TGTCTTCCAGGTGATCACCAT 0.473000 5 23 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592387 38592387 + Missense_Mutation SNP G G A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr3:38592387G>A ENST00000413689.1 - 28 5669 c.5476C>T c.(5476-5478)Cgt>Tgt p.R1826C SCN5A_ENST00000333535.4_Missense_Mutation_p.R1826C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772C NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1826 R -> C (found in patients with atrial fibrillation).|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TTGGCGATACGGAGTGGCTCA 0.507000 4 60 0 0 1 0 0 APBB3 10307 broad.mit.edu 37 5 139938336 139938336 + Missense_Mutation SNP C C T rs138766975 TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr5:139938336C>T ENST00000357560.4 - 13 1738 c.1295G>A c.(1294-1296)cGc>cAc p.R432H APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.R437H|APBB3_ENST00000354402.5_Missense_Mutation_p.R439H|APBB3_ENST00000508496.2_Missense_Mutation_p.R209H|APBB3_ENST00000412920.3_Missense_Mutation_p.R430H NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 432 PID 2. actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCCGCAGGCGGGCACGGGC 0.662000 4 63 0 0 1 0 0 PRKAR1B 5575 broad.mit.edu 37 7 716868 716868 + Missense_Mutation SNP C C G TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr7:716868C>G ENST00000406797.1 - 4 612 c.438G>C c.(436-438)agG>agC p.R146S PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R146S NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 146 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CTGCCTACCTCCTCTCGTTGT 0.642000 13 106 0 0 1 0 0 GMPR2 51292 broad.mit.edu 37 14 24702732 24702732 + Nonsense_Mutation SNP C C A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr14:24702732C>A ENST00000557854.1 + 2 466 c.189C>A c.(187-189)taC>taA p.Y63* GMPR2_ENST00000559910.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000559836.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000355299.4_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000348719.7_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000559104.1_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000456667.3_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000420554.2_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000399440.2_Nonsense_Mutation_p.Y45* Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 45 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) AGCAGACATACTCTGGGGTTC 0.448000 14 50 4.14922e-12 4.43212e-12 1 1 0 PLEKHG1 57480 broad.mit.edu 37 6 151055000 151055000 + Silent SNP G G A rs145506185 byFrequency TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr6:151055000G>A ENST00000367328.1 + 3 495 c.183G>A c.(181-183)ccG>ccA p.P61P PLEKHG1_ENST00000358517.2_Silent_p.P61P NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 61 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CTGCCAGGCCGTTTTCCAGCA 0.572000 13 50 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72973925 72973925 + Silent SNP C C T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr8:72973925C>T ENST00000262209.4 - 7 1086 c.879G>A c.(877-879)tcG>tcA p.S293S NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 293 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CAGAATAGGACGATATCATCA 0.423000 9 58 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_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) ACGGAAAAACTCACCATCCCC 0.502000 4 97 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25502755 25502755 + Missense_Mutation SNP G G A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr3:25502755G>A ENST00000330688.4 + 2 650 c.229G>A c.(229-231)Gtg>Atg p.V77M RARB_ENST00000404969.1_Missense_Mutation_p.V84M|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000462272.1_3'UTR NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 84 Modulating. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) TCCCCCTCGAGTGTACAAACC 0.527000 6 61 0 0 1 0 0 TBC1D19 55296 broad.mit.edu 37 4 26622268 26622268 + Silent SNP T T A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr4:26622268T>A ENST00000264866.4 + 4 530 c.252T>A c.(250-252)ccT>ccA p.P84P TBC1D19_ENST00000511789.1_Intron|TBC1D19_ENST00000515568.1_3'UTR NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 84 intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) CTGCACCTCCTGAACATCTTA 0.368000 6 56 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180359822 180359822 + Silent SNP C C T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr3:180359822C>T ENST00000273654.4 - 19 2704 c.2085G>A c.(2083-2085)gcG>gcA p.A695A CCDC39_ENST00000442201.2_Silent_p.A611A Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 611 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTATTTGTGACGCAAGCATTG 0.348000 6 63 0 0 1 0 0 TAAR6 319100 broad.mit.edu 37 6 132891858 132891858 + Missense_Mutation SNP C C T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr6:132891858C>T ENST00000275198.1 + 1 398 c.398C>T c.(397-399)gCg>gTg p.A133V NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 133 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) AGGTACATTGCGGTTACTGAC 0.488000 94 209 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390445 45390445 + Silent SNP A A G TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr6:45390445A>G ENST00000371438.1 + 2 532 c.174A>G c.(172-174)caA>caG p.Q58Q RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 58 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 3 58 0 0 1 0 0 QARS 5859 broad.mit.edu 37 3 49136843 49136843 + Silent SNP G G A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr3:49136843G>A ENST00000306125.6 - 17 1885 c.1548C>T c.(1546-1548)ctC>ctT p.L516L QARS_ENST00000414533.1_Silent_p.L505L P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 516 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) TGAGTGTAAAGAGCCGTGGGT 0.567000 9 73 0 0 1 0 0 SEPN1 57190 broad.mit.edu 37 1 26142184 26142184 + Missense_Mutation SNP G G A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr1:26142184G>A ENST00000361547.2 + 13 1803 c.1748G>A c.(1747-1749)cGt>cAt p.R583H SEPN1_ENST00000354177.4_Missense_Mutation_p.R549H|RP1-317E23.6_ENST00000527604.1_Intron|SEPN1_ENST00000494537.1_3'UTR|SEPN1_ENST00000374315.1_Missense_Mutation_p.R549H NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 583 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) GGACTCCGGCGTGGCCTGCCC 0.607000 4 133 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77642776 77642776 + Missense_Mutation SNP T T A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr13:77642776T>A ENST00000407578.2 - 70 12361 c.12095A>T c.(12094-12096)tAt>tTt p.Y4032F MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y3994F|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y3994F NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3994 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTGAGCCAGATATTGCCGGCC 0.498000 7 31 0 0 1 0 0 EXOC1 55763 broad.mit.edu 37 4 56768605 56768605 + Silent SNP A A G TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr4:56768605A>G ENST00000381295.2 + 18 2781 c.2433A>G c.(2431-2433)aaA>aaG p.K811K EXOC1_ENST00000346134.7_Silent_p.K811K|EXOC1_ENST00000349598.6_Silent_p.K796K NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 811 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) AACTTCGTAAAGTCATTAAGG 0.388000 4 59 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76073188 76073188 + RNA SNP C C T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr15:76073188C>T ENST00000395215.3 + 0 477 CCATACTAAACGTGCTGCCCG 0.507000 7 110 0 0 1 0 0 EEF1A2 1917 broad.mit.edu 37 20 62126425 62126425 + Silent SNP C C T rs143957818 TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr20:62126425C>T ENST00000217182.3 - 4 519 c.354G>A c.(352-354)gcG>gcA p.A118A EEF1A2_ENST00000298049.7_Silent_p.A118A NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 118 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CGCCCACGCCCGCCGCCACGA 0.711000 18 117 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138033555 138033555 + Missense_Mutation SNP C C T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr2:138033555C>T ENST00000409968.1 + 12 2637 c.2459C>T c.(2458-2460)aCg>aTg p.T820M THSD7B_ENST00000413152.2_Missense_Mutation_p.T789M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T820M thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CAGGGAATAACGGGCAGCAGT 0.403000 10 31 0 0 1 0 0 FAM169B 283777 broad.mit.edu 37 15 98995217 98995217 + Silent SNP G G A rs61734134 TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr15:98995217G>A ENST00000558256.1 - 5 456 c.207C>T c.(205-207)acC>acT p.T69T FAM169B_ENST00000332908.4_Silent_p.T69T NM_182562.2 NP_872368.2 Q8N8A8 F169B_HUMAN family with sequence similarity 169, member B 69 large_intestine(3)|lung(3)|urinary_tract(1) 7 AGCATGCACCGGTGCCATCAC 0.587000 3 35 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148406714 148406714 + Missense_Mutation SNP G G A rs147490172 TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr5:148406714G>A ENST00000538184.1 - 7 2110 c.1222C>T c.(1222-1224)Cgg>Tgg p.R408W SH3TC2_ENST00000512049.1_Missense_Mutation_p.R854W|SH3TC2_ENST00000394358.2_Missense_Mutation_p.R746W|SH3TC2_ENST00000515425.1_Missense_Mutation_p.R861W Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 861 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAAGGCCCGAAGATAGCTC 0.567000 5 227 0 0 1 0 0 AC010547.9 0 broad.mit.edu 37 16 71512203 71512203 + Missense_Mutation SNP T T C TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr16:71512203T>C ENST00000561908.1 - 5 704 c.202A>G c.(202-204)Aga>Gga p.R68G ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000288177.5_Missense_Mutation_p.R68G|ZNF19_ENST00000565637.1_Missense_Mutation_p.R26G|ZNF19_ENST00000564230.1_Missense_Mutation_p.R68G|ZNF19_ENST00000567225.1_Missense_Mutation_p.R68G ATGTCCCCTCTCTCCAAAAGT 0.488000 7 20 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584460 1584460 + Missense_Mutation SNP G G A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chrX:1584460G>A ENST00000381297.4 - 2 1202 c.992C>T c.(991-993)aCg>aTg p.T331M NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 331 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCGCACGGACGTGGTCCTGGC 0.701000 T CRLF2 """B-ALL, Downs associated ALL""" 9 113 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433550 55433550 + Missense_Mutation SNP G G T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr11:55433550G>T ENST00000314259.3 + 1 937 c.908G>T c.(907-909)tGg>tTg p.W303L NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGGATGAAATGGGAGGCTTTG 0.418000 5 41 4.096e-09 4.27804e-09 1 1 0 HTR1E 3354 broad.mit.edu 37 6 87725911 87725911 + Missense_Mutation SNP C C T TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr6:87725911C>T ENST00000305344.4 + 2 1562 c.859C>T c.(859-861)Cgg>Tgg p.R287W HTR1E_ENST00000369584.1_Missense_Mutation_p.R287W NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 287 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CACCAGGGAACGGAAGGCAGC 0.502000 12 149 0 0 1 0 0 C16orf58 64755 broad.mit.edu 37 16 31508234 31508234 + Missense_Mutation SNP G G A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr16:31508234G>A ENST00000327237.2 - 6 677 c.638C>T c.(637-639)gCc>gTc p.A213V C16orf58_ENST00000430477.2_Missense_Mutation_p.A71V|C16orf58_ENST00000570164.1_Missense_Mutation_p.A213V|C16orf58_ENST00000567994.1_Missense_Mutation_p.A168V Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 213 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 CACGGTCAGGGCAGCCCGAGT 0.632000 6 6 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49691395 49691395 + Missense_Mutation SNP C C A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr3:49691395C>A ENST00000296452.4 + 5 4520 c.4406C>A c.(4405-4407)gCa>gAa p.A1469E NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1469 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCTTCCCGGGCATATTCCTAC 0.632000 4 95 0.00198382 0.00198382 1 1 0 SCD 6319 broad.mit.edu 37 10 102112212 102112212 + Missense_Mutation SNP C C G TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr10:102112212C>G ENST00000370355.2 + 3 781 c.400C>G c.(400-402)Cta>Gta p.L134V NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 134 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TCGGCTGCCCCTACGGCTCTT 0.517000 21 173 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69103089 69103089 + Splice_Site SNP G G A TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr12:69103089G>A ENST00000229179.4 + 9 1133 c.801_splice c.e9+1 p.Q267_splice NUP107_ENST00000539906.1_Splice_Site_p.Q238_splice|NUP107_ENST00000378905.2_Splice_Site_p.Q116_splice NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 267 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GACAAAGTCAGGTATGACTAG 0.299000 6 59 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46238880 46238880 + Missense_Mutation SNP A A G TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr10:46238880A>G ENST00000336378.4 + 6 689 c.571A>G c.(571-573)Aag>Gag p.K191E FAM21C_ENST00000359860.4_Missense_Mutation_p.K135E|FAM21C_ENST00000537517.1_Missense_Mutation_p.K191E|FAM21C_ENST00000374362.2_Missense_Mutation_p.K191E|FAM21C_ENST00000540872.1_Missense_Mutation_p.K191E NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 191 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 CATTGGGTCAAAGCTGTTCAT 0.348000 11 87 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 2 4 --- --- --- --- MUC6 4588 broad.mit.edu 37 11 1030952 1030952 + Frame_Shift_Del DEL G G - TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr11:1030952delG ENST00000421673.2 - 6 729 c.679delC c.(679-681)agfs p.Q227fs NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 227 VWFD 1. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTTACGTGCTGGGCCTGCCGG 0.667 2 4 --- --- --- --- HMGN2P46 0 broad.mit.edu 37 15 45848231 45848231 + RNA DEL T T - TCGA-G9-6354-01A-11D-A30X-08 TCGA-G9-6354-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea8eed7-1e59-4888-b285-e5aa3d73cbd9 eba48f21-c778-4331-97c5-e28b88cc0627 g.chr15:45848231delT ENST00000409454.1 + 0 1226 TTTGTTTAGCTTTTTTTTTTT 0.323 5 6 --- --- --- ---