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 HGD 3081 broad.mit.edu 37 3 120389285 120389285 + Missense_Mutation SNP C C G TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr3:120389285C>G ENST00000283871.5 - 4 730 c.271G>C c.(271-273)Gat>Cat p.D91H HGD_ENST00000488183.1_5'UTR NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 91 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) TGGTTAGGATCAGGATCAACT 0.418000 26 72 0 0 1 0 0 RPIA 22934 broad.mit.edu 37 2 89035224 89035224 + Missense_Mutation SNP C C A TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr2:89035224C>A ENST00000283646.4 + 6 621 c.566C>A c.(565-567)gCt>gAt p.A189D NM_144563.2 NP_653164.2 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 189 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) GCTGGCTATGCTAGTCGCTTC 0.493000 4 174 1 1 1 1 0 GNG5 2787 broad.mit.edu 37 1 84967626 84967626 + Nonsense_Mutation SNP G G A TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr1:84967626G>A ENST00000370641.3 - 2 582 c.109C>T c.(109-111)Cag>Tag p.Q37* GNG5_ENST00000487806.1_5'UTR|GNG5_ENST00000370645.4_Nonsense_Mutation_p.Q37* P63218 GBG5_HUMAN guanine nucleotide binding protein (G protein), gamma 5 37 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity lung(1)|skin(1) 2 all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159) AGACAGAACTGTTTCAAGTCT 0.438000 14 34 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31283280 31283280 + Missense_Mutation SNP G G A TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr16:31283280G>A ENST00000544665.3 + 7 742 c.671G>A c.(670-672)cGg>cAg p.R224Q ITGAM_ENST00000287497.8_Missense_Mutation_p.R224Q NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 224 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CTGCTTGGGCGGACACACACG 0.512000 4 142 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 4 70 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941609 144941609 + Missense_Mutation SNP C C T TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr8:144941609C>T ENST00000525985.1 - 2 5884 c.5813G>A c.(5812-5814)gGg>gAg p.G1938E P58107 EPIPL_HUMAN epiplakin 1 1938 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGGAGGAACCCGGTGGCGGC 0.652000 4 52 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274020 39274020 + Missense_Mutation SNP C C G rs80129796 by1000genomes TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr17:39274020C>G ENST00000391413.2 - 1 586 c.548G>C c.(547-549)aGc>aCc p.S183T NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 183 keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCGGGGGCAGCTGGAGATGAC 0.622000 2 5 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30012630 30012630 + Missense_Mutation SNP A A C TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr15:30012630A>C ENST00000346128.6 - 19 3169 c.2695T>G c.(2695-2697)Tca>Gca p.S899A TJP1_ENST00000356107.6_Missense_Mutation_p.S899A|TJP1_ENST00000545208.2_Missense_Mutation_p.S899A|TJP1_ENST00000400011.2_Missense_Mutation_p.S903A NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 899 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GCTTGTGGTGAGTAAGGAGGA 0.483000 28 78 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72992835 72992835 + Missense_Mutation SNP C C A TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr7:72992835C>A ENST00000305632.5 - 1 286 c.45G>T c.(43-45)ttG>ttT p.L15F TBL2_ENST00000452475.1_Missense_Mutation_p.L15F NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 15 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) GCAGCCCAAGCAACACCGACA 0.711000 7 14 3.09899e-07 3.21818e-07 1 1 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 4 85 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111099179 111099179 + Missense_Mutation SNP C C T TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr13:111099179C>T ENST00000360467.5 + 18 1352 c.1046C>T c.(1045-1047)cCt>cTt p.P349L NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 349 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCTGGACTACCTGCCTACTCC 0.483000 5 162 0 0 1 0 0 ZNF260 339324 broad.mit.edu 37 19 37005674 37005674 + Missense_Mutation SNP T T G TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr19:37005674T>G ENST00000523638.1 - 3 1588 c.467A>C c.(466-468)aAa>aCa p.K156T ZNF260_ENST00000592282.1_Missense_Mutation_p.K156T|ZNF260_ENST00000588993.1_Missense_Mutation_p.K156T|ZNF260_ENST00000593142.1_Missense_Mutation_p.K156T NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 156 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) AGTATGAATTTTCTCATGCTC 0.398000 38 87 0 0 1 0 0 PMS1 0 broad.mit.edu 37 2 190732589 190732589 + Missense_Mutation SNP A A G TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr2:190732589A>G ENST00000441310.2 + 11 2640 c.2407A>G c.(2407-2409)Agt>Ggt p.S803G PMS1_ENST00000432292.3_Missense_Mutation_p.S627G|PMS1_ENST00000409823.3_Missense_Mutation_p.S764G|PMS1_ENST00000418224.3_Missense_Mutation_p.S627G|PMS1_ENST00000447232.2_Missense_Mutation_p.S641G NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 803 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) CCAAAGATACAGTGGATCAAC 0.323000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 16 30 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825377 4825377 + Silent SNP G G A TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr11:4825377G>A ENST00000380382.1 - 1 470 c.471C>T c.(469-471)tcC>tcT p.S157S OR52R1_ENST00000356069.2_Silent_p.S78S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTGAGTGGAGGAGGAGAGGA 0.488000 3 56 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 100 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1516466 1516466 + Missense_Mutation SNP C C G TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr7:1516466C>G ENST00000389470.4 - 37 5623 c.5624G>C c.(5623-5625)tGc>tCc p.C1875S INTS1_ENST00000404767.3_Missense_Mutation_p.C1676S Q8N201 INT1_HUMAN integrator complex subunit 1 1676 Poly-Leu. snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GACTCGGATGCACTGGTGCAG 0.652000 13 27 0 0 1 0 0 SOX21 11166 broad.mit.edu 37 13 95363824 95363824 + Silent SNP G G A TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr13:95363824G>A ENST00000376945.2 - 1 565 c.480C>T c.(478-480)gcC>gcT p.A160A NM_007084.2 NP_009015.1 Q9Y651 SOX21_HUMAN SRY (sex determining region Y)-box 21 160 regulation of transcription from RNA polymerase II promoter|stem cell differentiation nucleus DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 all_neural(89;0.0646)|Medulloblastoma(90;0.163) cggcggcggcggcagcggcgg 0.751000 2 3 0 0 1 0 0 MOB4 25843 broad.mit.edu 37 2 198413081 198413081 + Missense_Mutation SNP A A G TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr2:198413081A>G ENST00000323303.4 + 6 631 c.376A>G c.(376-378)Aga>Gga p.R126G MOB4_ENST00000448447.2_Missense_Mutation_p.R105G|MOB4_ENST00000409916.1_Missense_Mutation_p.R27G|MOB4_ENST00000409360.1_Missense_Mutation_p.R94G|MOB4_ENST00000233892.4_Missense_Mutation_p.R94G|MOB4_ENST00000604458.1_Missense_Mutation_p.R162G|MOB4_ENST00000497443.1_Intron NM_001202485.1|NM_015387.4 NP_001189414.1|NP_056202.2 MOB family member 4, phocein AGACTATACTAGACACACACT 0.323000 10 57 0 0 1 0 0 ZBTB22 0 broad.mit.edu 37 6 33283858 33283858 + Missense_Mutation SNP G G T TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr6:33283858G>T ENST00000431845.2 - 2 987 c.836C>A c.(835-837)gCt>gAt p.A279D ZBTB22_ENST00000418724.1_Missense_Mutation_p.A279D NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CCGGAGCCCAGCCCCAGGAAC 0.617000 24 59 3.73148e-12 4.02999e-12 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 6 64 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112335096 112335096 + Missense_Mutation SNP A A G TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr10:112335096A>G ENST00000361804.4 + 4 259 c.133A>G c.(133-135)Att>Gtt p.I45V SMC3_ENST00000462899.1_3'UTR NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 45 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) ATTTCCAGCAATTCAGTTTGT 0.338000 17 26 0 0 1 0 0 G6PD 2539 broad.mit.edu 37 X 153763439 153763439 + Silent SNP G G C TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chrX:153763439G>C ENST00000393562.2 - 5 902 c.519C>G c.(517-519)ccC>ccG p.P173P G6PD_ENST00000369620.2_Silent_p.P143P|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393564.2_Silent_p.P143P NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 143 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGACGGTCGGGGGCAAGGCCA 0.627000 4 170 0 0 1 0 0 EGFL8 80864 broad.mit.edu 37 6 32135285 32135285 + Silent SNP C C T rs146401113 byFrequency TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr6:32135285C>T ENST00000395512.1 + 8 792 c.687C>T c.(685-687)gcC>gcT p.A229A PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Silent_p.A229A Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 229 extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 TCTAGTGGGCCGGTCAGGCTG 0.677000 26 48 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75230940 75230940 + Missense_Mutation SNP C C T TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr14:75230940C>T ENST00000325680.7 + 1 872 c.748C>T c.(748-750)Ccg>Tcg p.P250S YLPM1_ENST00000552421.1_Missense_Mutation_p.P250S|YLPM1_ENST00000238571.3_Missense_Mutation_p.P250S NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TCCACCACCACCGTCCGCCCC 0.567000 10 39 0 0 1 0 0 RP11-218I7.2 0 broad.mit.edu 37 9 6051612 6051614 + RNA DEL GAG GAG - rs111817505 TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr9:6051612_6051614delGAG ENST00000437881.1 + 0 149 ggaggaggaagaggaggaggagg 0.473 3 5 --- --- --- --- LMX1B 4010 broad.mit.edu 37 9 129456049 129456051 + In_Frame_Del DEL CAG CAG - TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr9:129456049_129456051delCAG ENST00000355497.5 + 6 851_853 c.844_846delCAG c.(844-846)del p.Q285del LMX1B_ENST00000561065.1_In_Frame_Del_p.Q262del|LMX1B_ENST00000526117.1_In_Frame_Del_p.Q285del|LMX1B_ENST00000373474.4_In_Frame_Del_p.Q285del|LMX1B_ENST00000425646.2_In_Frame_Del_p.Q262del NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 262 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 GCGGCGGCACCAGCAGCAGCAGG 0.754 Nail-Patella Syndrome 2 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 5 3 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2332950 2332950 + RNA DEL G G - TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr19:2332950delG ENST00000452401.2 + 0 146 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) cggctggactgggctctgctg 0.697 2 4 --- --- --- --- GRIN2D 2906 broad.mit.edu 37 19 48946470 48946471 + Frame_Shift_Ins INS - - C TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr19:48946470_48946471insC ENST00000263269.3 + 13 3375_3376 c.3287_3288insC c.(3286-3288)tcgfs p.S1096fs NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 1096 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) ccgcccccgtgccgcgccgcgc 0.817 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- --- LINC00322 0 broad.mit.edu 37 21 44742331 44742332 + RNA INS - - C TCGA-EM-A3FP-01A-11D-A21A-08 TCGA-EM-A3FP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b72d3a-66eb-4718-ae6d-32d7141293aa 42693a6c-5651-4c5e-a16c-e2c6a1d12ebf g.chr21:44742331_44742332insC ENST00000450205.1 - 0 663_664 NR_103713.1 TCGCATGGGGACCCACCACTGC 0.639 2 4 --- --- --- ---