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 PKD1L2 114780 broad.mit.edu 37 16 81157274 81157274 + RNA SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr16:81157274G>A ENST00000534142.1 - 0 853 PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTGGTCTCTAGCGTCAGCGTG 0.597000 4 94 0 0 0.000248 0 0 KCTD3 51133 broad.mit.edu 37 1 215792548 215792548 + Silent SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr1:215792548T>C ENST00000259154.4 + 17 2095 c.1801T>C c.(1801-1803)Ttg>Ctg p.L601L KCTD3_ENST00000495537.1_3'UTR NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 601 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TCAATGTGATTTGAGCACATC 0.393000 18 88 0 0 0.008871 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 38 0 0 0.004672 0 0 MUC17 140453 broad.mit.edu 37 7 100678206 100678206 + Missense_Mutation SNP C C T rs140475164 byFrequency TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr7:100678206C>T ENST00000306151.4 + 3 3573 c.3509C>T c.(3508-3510)aCg>aTg p.T1170M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1170 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) GTCAGCACCACGCTGGTGGTC 0.522000 8 425 0 0 0.003080 0 0 AFF2 2334 broad.mit.edu 37 X 148044403 148044403 + Missense_Mutation SNP C C T TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chrX:148044403C>T ENST00000370460.2 + 13 3328 c.2849C>T c.(2848-2850)aCa>aTa p.T950I AFF2_ENST00000370457.5_Missense_Mutation_p.T917I|AFF2_ENST00000286437.5_Missense_Mutation_p.T591I|AFF2_ENST00000342251.3_Missense_Mutation_p.T917I NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 950 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GGACAAATCACATCTACCAAA 0.433000 6 52 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9074483 9074483 + Silent SNP A A G TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr19:9074483A>G ENST00000397910.4 - 3 13166 c.12963T>C c.(12961-12963)gcT>gcC p.A4321A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4323 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGTCTCTGTAGCAGAGCTGG 0.502000 14 20 0 0 0.002450 0 0 SMG1 23049 broad.mit.edu 37 16 18860687 18860687 + Silent SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr16:18860687T>C ENST00000446231.2 - 36 5887 c.5475A>G c.(5473-5475)caA>caG p.Q1825Q SMG1_ENST00000389467.3_Silent_p.Q1825Q Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1825 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GTGAGAAAAGTTGCGGAATAA 0.388000 7 70 0 0 0.003080 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 6 203 0 0 0.001168 0 0 PTENP1 0 broad.mit.edu 37 9 33676262 33676262 + RNA SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr9:33676262G>A ENST00000532280.1 - 0 1235 NR_023917.1 ATACCAGTTCGTCCCTTTCCA 0.393000 24 99 0 0 0.003954 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 6 74 0 0 0.004482 0 0 SENP7 57337 broad.mit.edu 37 3 101090962 101090962 + Missense_Mutation SNP T T G TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr3:101090962T>G ENST00000394095.2 - 7 739 c.686A>C c.(685-687)cAa>cCa p.Q229P SENP7_ENST00000394094.2_Missense_Mutation_p.Q164P|SENP7_ENST00000314261.7_Missense_Mutation_p.Q163P|SENP7_ENST00000358203.3_Missense_Mutation_p.Q65P|SENP7_ENST00000394091.1_Missense_Mutation_p.Q65P|SENP7_ENST00000348610.3_Missense_Mutation_p.Q196P NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 229 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTTACTTCGTTGTGAGCCCCT 0.348000 3 88 0 0 0.004672 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 6 79 0 0 0.003080 0 0 SRPK2 6733 broad.mit.edu 37 7 104782687 104782687 + Silent SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr7:104782687T>C ENST00000357311.3 - 10 1449 c.1278A>G c.(1276-1278)acA>acG p.T426T SRPK2_ENST00000393651.3_Silent_p.T437T|SRPK2_ENST00000489828.1_Silent_p.T426T NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 426 Protein kinase. T -> P (in dbSNP:rs55743527). angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 AGCTGCTATATGTGTAATCAC 0.428000 8 139 0 0 0.003080 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834453 178834453 + Silent SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr1:178834453T>C ENST00000234816.2 - 3 906 c.459A>G c.(457-459)caA>caG p.Q153Q ANGPTL1_ENST00000367629.1_Silent_p.Q153Q|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 153 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 TGTTTTCCAGTTGGGAAAGTT 0.388000 11 26 0 0 0.000978 0 0 GALNT1 2589 broad.mit.edu 37 18 33271056 33271056 + Silent SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr18:33271056G>A ENST00000269195.5 + 7 1162 c.1059G>A c.(1057-1059)acG>acA p.T353T GALNT1_ENST00000537549.1_Silent_p.T293T NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 353 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.T353T(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 CACCTTACACGTTTCCAGGAG 0.403000 9 158 0 0 0.004482 0 0 PARPBP 55010 broad.mit.edu 37 12 102559570 102559570 + Missense_Mutation SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr12:102559570G>A ENST00000327680.2 + 7 950 c.487G>A c.(487-489)Gat>Aat p.D163N PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.D163N|PARPBP_ENST00000358383.5_Missense_Mutation_p.D244N|PARPBP_ENST00000543784.1_Missense_Mutation_p.D130N|PARPBP_ENST00000378128.3_Missense_Mutation_p.D244N|PARPBP_ENST00000541394.1_Missense_Mutation_p.D321N NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 244 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 ACCACCATCAGATCCTTTAAG 0.363000 7 126 0 0 0.001984 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 67 0 0 0.000602 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 42 0 0 0.000248 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21467494 21467494 + Missense_Mutation SNP G G C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr12:21467494G>C ENST00000307378.6 - 5 1044 c.324C>G c.(322-324)ttC>ttG p.F108L SLCO1A2_ENST00000390670.3_Missense_Mutation_p.F106L|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.F108L|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000473830.1_Intron NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 108 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GGTTCATGAGGAAATGAGGTA 0.398000 3 85 0 0 0.004672 0 0 IFIT1B 439996 broad.mit.edu 37 10 91144286 91144286 + Silent SNP T T C TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr10:91144286T>C ENST00000371809.3 + 2 1296 c.1216T>C c.(1216-1218)Ttg>Ctg p.L406L LIPA_ENST00000371837.1_Intron NM_001010987.2 NP_001010987.1 Q5T764 IFT1B_HUMAN interferon-induced protein with tetratricopeptide repeats 1B 406 binding endometrium(2)|large_intestine(3)|lung(8) 13 TTTAAAAGGTTTGAAAATAGA 0.363000 36 66 0 0 0.004289 0 0 WDR45B 56270 broad.mit.edu 37 17 80579584 80579584 + Silent SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr17:80579584G>A ENST00000392325.4 - 6 713 c.519C>T c.(517-519)agC>agT p.S173S WDR45B_ENST00000571835.1_5'UTR NM_019613.3 NP_062559.2 WD repeat domain 45B GCTTCTCCGTGCTGGCCAGGT 0.582000 7 35 0 0 0.006214 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 30 45 0 0 0.008361 0 0 STC2 8614 broad.mit.edu 37 5 172755126 172755126 + Missense_Mutation SNP C C G TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr5:172755126C>G ENST00000265087.4 - 1 1380 c.71G>C c.(70-72)gGg>gCg p.G24A NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 24 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGCGTCGGTCCCCCGCGCCGG 0.637000 22 101 0 0 0.002299 0 0 KIAA0141 9812 broad.mit.edu 37 5 141307808 141307808 + Silent SNP C C A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr5:141307808C>A ENST00000432126.2 + 4 491 c.357C>A c.(355-357)tcC>tcA p.S119S KIAA0141_ENST00000194118.4_Silent_p.S119S NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 119 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACACTGCTCCTGGCACAGTC 0.627000 6 58 3.59834e-05 5.1976e-05 0.001168 1 0 OR4C6 219432 broad.mit.edu 37 11 55433335 55433335 + Silent SNP G G A TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr11:55433335G>A ENST00000314259.3 + 1 722 c.693G>A c.(691-693)cgG>cgA p.R231R NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R231R(1) 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 CTAAAGGGCGGCACAAAGCCC 0.507000 4 132 0 0 0.000602 0 0 SNHG12 0 broad.mit.edu 37 1 28906820 28906820 + RNA DEL A A - rs11325748 TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr1:28906820delA ENST00000488745.1 - 0 1100 SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA actccgtctcaaaaaaaaaaa 0.493 2 4 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-DJ-A1QF-01A-12D-A14W-08 TCGA-DJ-A1QF-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21fe815-1958-4e1f-ad92-ae5c83303c82 6c5b9e0f-d833-440a-89ff-a5fb5f8b7579 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 4 9 --- --- --- ---