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 C16orf70 80262 broad.mit.edu 37 16 67173971 67173971 + Missense_Mutation SNP T T G TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr16:67173971T>G ENST00000219139.3 + 9 934 c.746T>G c.(745-747)cTt>cGt p.L249R C16orf70_ENST00000569600.1_Missense_Mutation_p.L249R NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 249 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) CAAGATGTTCTTAGCATGCTT 0.408000 4 81 0 0 0.150653 0 0 DOCK5 80005 broad.mit.edu 37 8 25226092 25226092 + Missense_Mutation SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr8:25226092C>T ENST00000276440.7 + 33 3333 c.3289C>T c.(3289-3291)Cac>Tac p.H1097Y NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1097 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTCAGGTCCCCACAAAATCAA 0.393000 14 41 0 0 0.457914 0 0 LGMN 5641 broad.mit.edu 37 14 93172867 93172867 + Silent SNP C C A TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr14:93172867C>A ENST00000393218.2 - 13 1489 c.1152G>T c.(1150-1152)ctG>ctT p.L384L LGMN_ENST00000334869.4_Silent_p.L384L|LGMN_ENST00000555699.1_Intron|LGMN_ENST00000557434.1_Intron NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 384 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) TCCGGAAGTGCAGCAGGGCCT 0.627000 3 55 2.56e-06 2.74286e-06 0.150653 1 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 4 69 0 0 0.184627 0 0 TIPARP 25976 broad.mit.edu 37 3 156421217 156421217 + Missense_Mutation SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr3:156421217C>T ENST00000461166.1 + 5 1840 c.1252C>T c.(1252-1254)Ctt>Ttt p.L418F TIPARP_ENST00000542783.1_Missense_Mutation_p.L418F|TIPARP_ENST00000486483.1_Missense_Mutation_p.L418F|TIPARP_ENST00000295924.7_Missense_Mutation_p.L418F NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 418 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTTTAGGACACTTGGTGGGGT 0.383000 5 42 0 0 0.248553 0 0 BAI2 576 broad.mit.edu 37 1 32207698 32207698 + Missense_Mutation SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr1:32207698C>T ENST00000373658.3 - 8 1714 c.1373G>A c.(1372-1374)gGt>gAt p.G458D BAI2_ENST00000527361.1_Missense_Mutation_p.G458D|BAI2_ENST00000398538.1_Missense_Mutation_p.G446D|BAI2_ENST00000398547.1_Missense_Mutation_p.G391D|BAI2_ENST00000440175.2_Missense_Mutation_p.G100D|BAI2_ENST00000373655.2_Missense_Mutation_p.G458D|BAI2_ENST00000398542.1_Missense_Mutation_p.G391D|BAI2_ENST00000257070.4_Missense_Mutation_p.G458D|BAI2_ENST00000398556.3_Missense_Mutation_p.G406D NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 458 TSP type-1 3. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AGTGAGGGCACCCGTGCATGT 0.677000 4 38 0 0 0.150653 0 0 EIF4A1 1973 broad.mit.edu 37 17 7481488 7481488 + Silent SNP A A G TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr17:7481488A>G ENST00000293831.8 + 10 1018 c.1002A>G c.(1000-1002)agA>agG p.R334R EIF4A1_ENST00000582746.1_Intron|EIF4A1_ENST00000581808.1_3'UTR|EIF4A1_ENST00000577269.1_Intron|SENP3-EIF4A1_ENST00000579777.1_RNA NM_001416.3 NP_001407.1 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A1 334 Helicase C-terminal. nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 22 CGTAGGCCAGAGGCATTGATG 0.507000 3 74 0 0 0.150653 0 0 CYP2C8 1558 broad.mit.edu 37 10 96802700 96802700 + Missense_Mutation SNP C C T rs147133669 TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr10:96802700C>T ENST00000371270.3 - 7 1190 c.1096G>A c.(1096-1098)Gtg>Atg p.V366M CYP2C8_ENST00000535898.1_Missense_Mutation_p.V264M|CYP2C8_ENST00000539050.1_Missense_Mutation_p.V280M NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 366 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCATGGGGCACACCGGTGGGG 0.488000 4 113 0 0 0.150653 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170018 20170018 + RNA SNP C C G rs140304162 by1000genomes TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr15:20170018C>G ENST00000338912.5 - 0 253 p.G85A(1) GGTGACTCTGCCCTGGAACTT 0.547000 3 122 0 0 0.150653 0 0 NPAS2 4862 broad.mit.edu 37 2 101564729 101564729 + Silent SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr2:101564729C>T ENST00000335681.5 + 6 681 c.396C>T c.(394-396)ttC>ttT p.F132F NPAS2_ENST00000542504.1_Silent_p.F197F|NPAS2_ENST00000486017.1_3'UTR NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 132 PAS 1. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGTTAAATTTCCTCCCAGAAC 0.348000 32 47 0 0 0.788014 0 0 HAS1 3036 broad.mit.edu 37 19 52219536 52219536 + Missense_Mutation SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr19:52219536C>T ENST00000540069.2 - 4 1091 c.1031G>A c.(1030-1032)cGc>cAc p.R344H HAS1_ENST00000222115.1_Missense_Mutation_p.R345H|HAS1_ENST00000601714.1_Missense_Mutation_p.R352H|HAS1_ENST00000594621.1_Intron Q92839 HAS1_HUMAN hyaluronan synthase 1 345 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding p.R345H(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GCTGAGCATGCGGTTGGTGAG 0.522000 7 75 0 0 0.278610 0 0 CHRM4 1132 broad.mit.edu 37 11 46407206 46407206 + Missense_Mutation SNP G G A TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr11:46407206G>A ENST00000433765.2 - 1 901 c.902C>T c.(901-903)gCc>gTc p.A301V NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 301 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GTTCTGGGTGGCACTGCCTGA 0.697000 3 44 0 0 0.150653 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr7:102912190T>G ENST00000312132.4 - 0 2389 TCTGGATAAATATGGAAGCGT 0.343000 3 39 0 0 0.115264 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67214355 67214355 + Silent SNP G G A TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr16:67214355G>A ENST00000290881.7 - 3 1085 c.159C>T c.(157-159)gtC>gtT p.V53V KIAA0895L_ENST00000561621.1_Silent_p.V53V|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Silent_p.V53V Q68EN5 K895L_HUMAN KIAA0895-like 53 Pro-rich. breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 GCGCTGGGGGGACTGCCAGAG 0.657000 8 14 0 0 0.307466 0 0 AP005901.1 0 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 3 17 0 0 0.217242 0 0 ACAP1 9744 broad.mit.edu 37 17 7251632 7251632 + Missense_Mutation SNP A A G TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr17:7251632A>G ENST00000158762.3 + 17 1722 c.1516A>G c.(1516-1518)Aag>Gag p.K506E NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 506 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 CAGGCAGGAGAAGGAGGCCTG 0.627000 7 23 0 0 0.278610 0 0 RAI14 26064 broad.mit.edu 37 5 34826488 34826488 + Silent SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr5:34826488C>T ENST00000265109.3 + 16 2990 c.2703C>T c.(2701-2703)ctC>ctT p.L901L RAI14_ENST00000506376.1_Silent_p.L893L|RAI14_ENST00000397449.1_Silent_p.L894L|RAI14_ENST00000428746.2_Silent_p.L901L|RAI14_ENST00000515799.1_Silent_p.L904L|RAI14_ENST00000503673.1_Silent_p.L901L|RAI14_ENST00000512629.1_Silent_p.L872L NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 901 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) TGAACAGCCTCTCCCAGCTCT 0.498000 28 49 0 0 0.706142 0 0 GNAS 2778 broad.mit.edu 37 20 57484597 57484597 + Missense_Mutation SNP G G T rs137854533 TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr20:57484597G>T ENST00000371100.4 + 9 3162 c.2610G>T c.(2608-2610)caG>caT p.Q870H GNAS_ENST00000306090.10_Missense_Mutation_p.Q213H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.Q856H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.Q227H|GNAS_ENST00000354359.7_Missense_Mutation_p.Q228H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.Q213H|GNAS_ENST00000265620.7_Missense_Mutation_p.Q212H NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 227 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.Q227H(7) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TGGGTGGCCAGCGCGATGAAC 0.512000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 13 35 2.23348e-06 2.48165e-06 0.500413 1 0 LAMA3 3909 broad.mit.edu 37 18 21396413 21396413 + Silent SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr18:21396413C>T ENST00000313654.9 + 18 2350 c.2109C>T c.(2107-2109)tgC>tgT p.C703C LAMA3_ENST00000399516.3_Silent_p.C703C NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 703 Domain V.|Laminin EGF-like 8. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGGAGTGTGCCAGTGCCGAG 0.547000 3 43 0 0 0.115264 0 0 DHX30 22907 broad.mit.edu 37 3 47890987 47890987 + Missense_Mutation SNP G G T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr3:47890987G>T ENST00000446256.2 + 21 3589 c.3017G>T c.(3016-3018)aGc>aTc p.S1006I DHX30_ENST00000457607.1_Missense_Mutation_p.S1073I|DHX30_ENST00000348968.4_Missense_Mutation_p.S1017I|DHX30_ENST00000445061.1_Missense_Mutation_p.S1045I NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 1045 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AAGCCCAACAGCGTCACATAT 0.592000 4 54 0.00024832 0.000256883 0.150653 1 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170029 20170029 + RNA SNP C C T rs144252881 by1000genomes TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr15:20170029C>T ENST00000338912.5 - 0 242 CCTGGAACTTCTGTGCATAGC 0.547000 4 100 0 0 0.184627 0 0 CRY1 1407 broad.mit.edu 37 12 107415951 107415951 + Missense_Mutation SNP C C T TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr12:107415951C>T ENST00000008527.5 - 2 1045 c.178G>A c.(178-180)Gag>Aag p.E60K NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 60 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 TCAAGATCCTCAAGACACTGA 0.313000 5 85 0 0 0.248553 0 0 ALPP 250 broad.mit.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC TGC - TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr2:233243529_233243531delTGC ENST00000392027.2 + 1 286_288 c.17_19delTGC c.(16-21)atg>a p.ML6del NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 6 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGCCCTGCAtgctgctgctgct 0.616 7 65 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7191540 7191541 + RNA DEL CA CA - TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr8:7191540_7191541delCA ENST00000606573.1 - 0 703 GGGGTGcacgcacacacacaca 0.530 7 24 --- --- --- --- TG 7038 broad.mit.edu 37 8 133945834 133945835 + Frame_Shift_Ins INS - - TTCACCG TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr8:133945834_133945835insTTCACCG ENST00000220616.4 + 24 4885_4886 c.4845_4846insTTCACCG c.(4843-4848)tttcacfs p.H1616fs TG_ENST00000377869.1_Frame_Shift_Ins_p.H1559fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.H50fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1616 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCTGCAGCTTCTTCACCGTGTC 0.574 16 105 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-BJ-A3F0-01A-11D-A202-08 TCGA-BJ-A3F0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0715a737-9c4b-41e4-8a79-0701999c9c2e e53739f1-a4ec-4515-8d37-2726f2608741 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 7 390 --- --- --- ---