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 FRAS1 80144 broad.mit.edu 37 4 79462267 79462267 + Missense_Mutation SNP A A C TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr4:79462267A>C ENST00000264895.6 + 74 12468 c.12028A>C c.(12028-12030)Aca>Cca p.T4010P NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 4005 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACAAGATGGAACAGAAGTTTA 0.353000 8 23 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 3 64 0 0 1 0 0 ABHD16B 140701 broad.mit.edu 37 20 62493651 62493651 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr20:62493651C>T ENST00000369916.3 + 1 1086 c.758C>T c.(757-759)gCc>gTc p.A253V NM_080622.3 NP_542189.1 Q9H3Z7 ABHGB_HUMAN abhydrolase domain containing 16B 253 hydrolase activity endometrium(2)|kidney(1)|lung(3) 6 GGCTTCACGGCCACCTGGGCC 0.672000 6 13 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69973922 69973922 + Missense_Mutation SNP G G A rs145725367 TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr4:69973922G>A ENST00000305231.7 + 5 1238 c.1192G>A c.(1192-1194)Gat>Aat p.D398N UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 398 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATTGTTTGCCGATCAACCTGA 0.473000 13 145 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89989828 89989828 + Missense_Mutation SNP C C G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr5:89989828C>G ENST00000405460.2 + 33 7351 c.7255C>G c.(7255-7257)Cct>Gct p.P2419A NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2419 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCAAGGGGTGCCTGACCCACT 0.488000 15 16 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396184 38396184 + Silent SNP C C A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr9:38396184C>A ENST00000377698.3 + 2 592 c.439C>A c.(439-441)Cgg>Agg p.R147R NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 147 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CAAGGTGTATCGGTACTTTGC 0.557000 4 126 0.150653 0.150653 1 1 0 USP37 57695 broad.mit.edu 37 2 219418378 219418378 + Silent SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr2:219418378G>A ENST00000258399.3 - 5 638 c.226C>T c.(226-228)Ctg>Ttg p.L76L USP37_ENST00000338465.5_Silent_p.L76L|USP37_ENST00000418019.1_Silent_p.L76L|USP37_ENST00000454775.1_Silent_p.L76L|USP37_ENST00000415516.1_Silent_p.L4L NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 76 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TTATCTTGCAGAGTTAACATT 0.393000 4 56 0 0 1 0 0 ZBTB14 7541 broad.mit.edu 37 18 5291231 5291231 + Missense_Mutation SNP T T G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr18:5291231T>G ENST00000357006.4 - 4 1314 c.976A>C c.(976-978)Atc>Ctc p.I326L ZBTB14_ENST00000400143.3_Missense_Mutation_p.I326L NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 CCTGTGTGGATTTTTAGGTGT 0.453000 27 55 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 5 94 0 0 1 0 0 COQ9 57017 broad.mit.edu 37 16 57486804 57486804 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr16:57486804C>T ENST00000262507.6 + 3 403 c.334C>T c.(334-336)Ccc>Tcc p.P112S COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 112 ubiquinone biosynthetic process mitochondrion p.P112S(2) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 TGAGTTTGTGCCCGCCCACGG 0.592000 4 111 0 0 1 0 0 RAP2C 57826 broad.mit.edu 37 X 131351120 131351120 + Silent SNP T T C TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chrX:131351120T>C ENST00000342983.2 - 2 923 c.177A>G c.(175-177)gcA>gcG p.A59A RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Silent_p.A59A NM_001271186.1|NM_001271187.1|NM_021183.3 NP_001258115.1|NP_001258116.1|NP_067006.3 Q9Y3L5 RAP2C_HUMAN RAP2C, member of RAS oncogene family 59 negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 8 Acute lymphoblastic leukemia(192;0.000127) GCTCAGTTCCTGCGGTGTCCA 0.458000 6 136 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31709985 31709985 + Splice_Site SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr18:31709985C>T ENST00000261592.5 - 2 562 c.e2-1 NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000589544.1_Splice_Site|NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000269185.4_Splice_Site NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 CTACGCCATCCTGGAAACAAA 0.343000 4 39 0 0 1 0 0 COTL1 23406 broad.mit.edu 37 16 84623755 84623755 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr16:84623755C>T ENST00000262428.4 - 3 436 c.274G>A c.(274-276)Gcc>Acc p.A92T COTL1_ENST00000564057.1_Missense_Mutation_p.A23T NM_021149.2 NP_066972.1 Q14019 COTL1_HUMAN coactosin-like 1 (Dictyostelium) 92 ADF-H. cytoplasm|cytoskeleton actin binding|enzyme binding p.A92T(1) endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 6 CCGGTTTTGGCGCGCTGCAGC 0.597000 4 60 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196388024 196388024 + Missense_Mutation SNP G G A rs139647726 TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr3:196388024G>A ENST00000328557.4 + 3 1713 c.1510G>A c.(1510-1512)Gcc>Acc p.A504T NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species TGGGAGCCTCGCCCCACTCCA 0.587000 32 51 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225740826 225740826 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr2:225740826C>T ENST00000409592.3 - 8 955 c.842G>A c.(841-843)cGc>cAc p.R281H DOCK10_ENST00000258390.7_Missense_Mutation_p.R287H Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 287 PH. GTP binding p.R287H(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTGCAGAATGCGGTTGAGGGT 0.488000 3 37 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198095 170198095 + Missense_Mutation SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr3:170198095G>A ENST00000231706.4 - 7 2291 c.1976C>T c.(1975-1977)gCg>gTg p.A659V CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 659 integral to membrane amino acid transmembrane transporter activity p.A659V(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCACCAGACCGCAAACCGGAT 0.498000 4 134 0 0 1 0 0 CLEC6A 93978 broad.mit.edu 37 12 8612205 8612205 + Missense_Mutation SNP T T G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr12:8612205T>G ENST00000382073.3 + 3 320 c.134T>G c.(133-135)tTt>tGt p.F45C NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 45 defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) ACTTACCATTTTACATATGGT 0.393000 13 135 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109810235 109810235 + Missense_Mutation SNP T T C TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr1:109810235T>C ENST00000271332.3 + 16 6140 c.6079T>C c.(6079-6081)Tcc>Ccc p.S2027P NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2027 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CAACTGCACGTCCATCACCTT 0.592000 24 55 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19381985 19381985 + Silent SNP C C A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr22:19381985C>A ENST00000263208.5 - 8 958 c.702G>T c.(700-702)ggG>ggT p.G234G HIRA_ENST00000541063.1_Silent_p.G190G|HIRA_ENST00000340170.4_Silent_p.G234G|HIRA_ENST00000546308.1_Silent_p.G190G NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 234 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CCAGGTAATGCCCATCAGGTG 0.547000 7 59 0.0381472 0.039321 1 1 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 83 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168833702 168833702 + Missense_Mutation SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr3:168833702G>A ENST00000464456.1 - 7 2594 c.1394C>T c.(1393-1395)gCg>gTg p.A465V MECOM_ENST00000468789.1_Missense_Mutation_p.A465V|MECOM_ENST00000472280.1_Missense_Mutation_p.A466V|MECOM_ENST00000264674.3_Missense_Mutation_p.A530V|MECOM_ENST00000460814.1_Missense_Mutation_p.A465V|MECOM_ENST00000433243.2_Missense_Mutation_p.A466V|MECOM_ENST00000392736.3_Missense_Mutation_p.A465V|MECOM_ENST00000494292.1_Missense_Mutation_p.A653V NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TCCTGACACCGCAGTCTGCTC 0.388000 4 103 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578206 7578206 + Missense_Mutation SNP T T C TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr17:7578206T>C ENST00000420246.2 - 6 775 c.643A>G c.(643-645)Agt>Ggt p.S215G TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000359597.4_Missense_Mutation_p.S215G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 215 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACCACCACACTATGTCGAAAA 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 36 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752690 36752690 + Missense_Mutation SNP C C G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr1:36752690C>G ENST00000354618.5 + 4 1083 c.859C>G c.(859-861)Ctg>Gtg p.L287V THRAP3_ENST00000469141.2_Missense_Mutation_p.L287V NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 287 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGGCTCAACTCTGCCGAGTGG 0.602000 T USP6 aneurysmal bone cysts 29 55 0 0 1 0 0 GMPPA 29926 broad.mit.edu 37 2 220371481 220371481 + Missense_Mutation SNP G G C TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr2:220371481G>C ENST00000358215.3 + 13 1593 c.1224G>C c.(1222-1224)aaG>aaC p.K408N GMPPA_ENST00000373908.1_Missense_Mutation_p.K408N|GMPPA_ENST00000341142.3_Missense_Mutation_p.K408N|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.K408N|GMPPA_ENST00000373917.3_Missense_Mutation_p.K461N NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 408 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) TGCCACACAAGGAGCTGAGCC 0.617000 14 27 0 0 1 0 0 CLEC6A 93978 broad.mit.edu 37 12 8612215 8612215 + Silent SNP T T G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr12:8612215T>G ENST00000382073.3 + 3 330 c.144T>G c.(142-144)ggT>ggG p.G48G NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 48 defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) TTACATATGGTGAAACTGGCA 0.378000 13 134 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 23 54 0 0 1 0 0 CTD-2139B15.2 0 broad.mit.edu 37 5 17354246 17354246 + RNA SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr5:17354246G>A ENST00000511821.1 + 0 105 FTH1P10_ENST00000401830.3_RNA CATTCAGCCCGCTCTCCCAGT 0.473000 9 142 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77301960 77301960 + Missense_Mutation SNP T T C TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chrX:77301960T>C ENST00000341514.6 + 23 4551 c.4396T>C c.(4396-4398)Tca>Cca p.S1466P ATP7A_ENST00000350425.4_Missense_Mutation_p.S469P|ATP7A_ENST00000343533.5_Missense_Mutation_p.S1388P NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1466 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CTCTATAAACTCACTACTGTC 0.443000 23 271 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3661079 3661079 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr17:3661079C>T ENST00000263087.4 - 9 1039 c.941G>A c.(940-942)gGc>gAc p.G314D NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 314 VWFA. cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CTCGAATATGCCACCATCGGT 0.547000 5 286 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89638748 89638748 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr6:89638748C>T ENST00000369485.4 - 4 509 c.323G>A c.(322-324)cGt>cAt p.R108H RNGTT_ENST00000369475.3_Missense_Mutation_p.R108H|RNGTT_ENST00000265607.6_Missense_Mutation_p.R108H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R48H NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 108 TPase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R108H(1) endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) CTCACACAGACGAATAAAGGT 0.343000 7 63 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139404380 139404380 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr9:139404380C>T ENST00000277541.6 - 18 2849 c.2774G>A c.(2773-2775)gGc>gAc p.G925D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 925 EGF-like 24. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGTGTTGATGCCGTCTGTGCA 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 4 93 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945760 16945760 + RNA SNP A A G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr1:16945760A>G ENST00000412962.1 - 0 1759 AAAAGGGCACAACGGCAGTCA 0.562000 4 43 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155505941 155505941 + Missense_Mutation SNP C C A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr4:155505941C>A ENST00000302053.3 - 6 2014 c.1936G>T c.(1936-1938)Ggc>Tgc p.G646C NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 646 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTGAAAATGCCACTTTGGGTA 0.373000 13 63 4.3838e-07 4.66214e-07 1 1 0 PKNOX2 63876 broad.mit.edu 37 11 125299879 125299879 + Missense_Mutation SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr11:125299879G>A ENST00000298282.9 + 12 1305 c.1034G>A c.(1033-1035)cGc>cAc p.R345H PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.R281H NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 345 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) GCCCGGAGGCGCATCCTGCAG 0.597000 4 172 0 0 1 0 0 SMAD9 4093 broad.mit.edu 37 13 37439796 37439796 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr13:37439796C>T ENST00000379826.4 - 5 1223 c.881G>A c.(880-882)cGa>cAa p.R294Q SMAD9_ENST00000350148.5_Missense_Mutation_p.R257Q|SMAD9_ENST00000399275.2_Missense_Mutation_p.R294Q NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 294 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) GAGCACACTTCGGGAGGAAGC 0.473000 8 70 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25399793 25399793 + Missense_Mutation SNP A A G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr13:25399793A>G ENST00000255324.5 + 16 2180 c.2128A>G c.(2128-2130)Atc>Gtc p.I710V RNF17_ENST00000381921.1_Missense_Mutation_p.I710V NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 710 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ATTAAAGACAATCGAGGAATT 0.333000 21 49 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906021 5906021 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr11:5906021C>T ENST00000316987.2 + 1 521 c.499C>T c.(499-501)Cgt>Tgt p.R167C NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R167G(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTCATTCTGCGTCTGCCATT 0.453000 47 85 0 0 1 0 0 TMEM14A 28978 broad.mit.edu 37 6 52548949 52548949 + Missense_Mutation SNP G G C TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr6:52548949G>C ENST00000211314.4 + 4 399 c.246G>C c.(244-246)ttG>ttC p.L82F NM_014051.3 NP_054770.1 Q9Y6G1 TM14A_HUMAN transmembrane protein 14A 82 integral to membrane endometrium(2)|lung(2) 4 Lung NSC(77;0.118) CTGCTGGTTTGGTTGCAGGTT 0.348000 17 51 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30570090 30570090 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr6:30570090C>T ENST00000376511.2 - 19 2888 c.2336G>A c.(2335-2337)aGt>aAt p.S779N NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 779 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCGATGCCCACTTCCCATGCC 0.672000 11 216 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30942332 30942332 + Translation_Start_Site SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr11:30942332C>T ENST00000406071.2 - 0 920 DCDC1_ENST00000339794.5_Missense_Mutation_p.S174N|DCDC1_ENST00000597505.1_Missense_Mutation_p.S1095N P59894 DCDC1_HUMAN doublecortin domain containing 1 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CAGAATTTCACTGGAAGCATT 0.438000 11 19 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17084996 17084996 + RNA SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr1:17084996C>T ENST00000455405.2 - 0 192 GTGAGTTGCCCGGATGGCCCC 0.602000 4 63 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304727 102304727 + RNA SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr15:102304727C>T ENST00000561463.1 + 0 12773 CGCGTGGGAACGAGAAGACAC 0.622000 5 15 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 4 170 0 0 1 0 0 KRT81 3887 broad.mit.edu 37 12 52685222 52685222 + Missense_Mutation SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr12:52685222G>A ENST00000327741.5 - 1 96 c.28C>T c.(28-30)Cgc>Tgc p.R10C KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron NM_002281.3 NP_002272.2 Q14533 KRT81_HUMAN keratin 81 10 Head. keratin filament protein binding|structural molecule activity breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1) 16 BRCA - Breast invasive adenocarcinoma(357;0.189) CTGAAGGCGCGCCCACCAAAT 0.657000 5 18 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153585626 153585626 + Missense_Mutation SNP G G T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chrX:153585626G>T ENST00000369850.3 - 30 5198 c.4962C>A c.(4960-4962)caC>caA p.H1654Q FLNA_ENST00000344736.4_Intron|FLNA_ENST00000360319.4_Intron|FLNA_ENST00000422373.1_Intron|FLNA_ENST00000369856.3_Intron NM_001110556.1 NP_001104026.1 P21333 FLNA_HUMAN filamin A, alpha 1654 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) TACCTAGCCCGTGACCTCCGA 0.637000 27 39 1.55811e-20 1.68376e-20 1 1 0 AKAP13 11214 broad.mit.edu 37 15 86287010 86287010 + Silent SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr15:86287010G>A ENST00000394518.2 + 36 8441 c.8346G>A c.(8344-8346)aaG>aaA p.K2782K AKAP13_ENST00000394510.2_Silent_p.K1027K|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.K2786K NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2782 Interaction with ESR1.|Poly-Lys. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CAAAGGAAAAGAAGGAGAAAA 0.542000 6 61 0 0 1 0 0 OTOS 150677 broad.mit.edu 37 2 241078762 241078762 + Missense_Mutation SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr2:241078762G>A ENST00000391989.2 - 5 325 c.95C>T c.(94-96)gCg>gTg p.A32V OTOS_ENST00000319460.1_Missense_Mutation_p.A32V Q8NHW6 OTOSP_HUMAN otospiralin 32 extracellular region endometrium(2)|large_intestine(1)|lung(3) 6 all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16) Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) CGGCAGCTCCGCGTAAGGGTC 0.602000 41 65 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 3 41 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26690046 26690046 + Missense_Mutation SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr2:26690046G>A ENST00000272371.2 - 35 4409 c.4283C>T c.(4282-4284)aCt>aTt p.T1428I OTOF_ENST00000402415.3_Missense_Mutation_p.T738I|OTOF_ENST00000339598.3_Missense_Mutation_p.T661I|OTOF_ENST00000338581.6_Missense_Mutation_p.T661I|OTOF_ENST00000403946.3_Missense_Mutation_p.T1428I NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1428 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAAGTTGAAAGTGTGCAGCCA 0.597000 4 107 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105912881 105912881 + Missense_Mutation SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr2:105912881G>A ENST00000393359.2 - 4 1396 c.970C>T c.(970-972)Cgc>Tgc p.R324C TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R324C Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 324 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TCTACTCTGCGGCTTGCTAGA 0.403000 4 111 0 0 1 0 0 SSX6 0 broad.mit.edu 37 X 47969979 47969979 + Missense_Mutation SNP T T C TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chrX:47969979T>C ENST00000376932.2 + 3 256 c.182T>C c.(181-183)cTa>cCa p.L61P SSX6_ENST00000319275.3_5'UTR large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 ATGACTAAACTAGGTAACAGA 0.428000 3 52 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75549206 75549206 + Missense_Mutation SNP G G A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr10:75549206G>A ENST00000604729.1 + 4 836 c.539G>A c.(538-540)cGc>cAc p.R180H ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R180H|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R180H zinc finger, SWIM-type containing 8 ATGTTTGACCGCTGCCGGGTC 0.612000 6 9 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64640136 64640136 + Splice_Site SNP T T C TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr3:64640136T>C ENST00000498707.1 - 8 1553 c.e8-2 ADAMTS9_ENST00000459780.1_Splice_Site|ADAMTS9_ENST00000295903.4_Splice_Site NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CAGCCAGGCCTATTAGAAGGA 0.403000 8 102 0 0 1 0 0 LPCAT3 10162 broad.mit.edu 37 12 7086824 7086824 + Missense_Mutation SNP C C T TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr12:7086824C>T ENST00000261407.4 - 10 1209 c.1124G>A c.(1123-1125)gGc>gAc p.G375D LPCAT3_ENST00000535021.1_Intron|U47924.19_ENST00000564245.1_RNA NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 375 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 TGAGTGCAGGCCGTGCCAGAG 0.507000 8 153 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 20 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12950911 12950911 + Missense_Mutation SNP T T G TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr3:12950911T>G ENST00000273221.4 - 11 2698 c.2482A>C c.(2482-2484)Acc>Ccc p.T828P NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 828 PH. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACAGACGAGGTGAGCCGGATG 0.547000 8 82 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG CTG - TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr1:226034840_226034842delCTG ENST00000366835.3 - 24 2593_2595 c.2323_2325delCAG c.(2323-2325)del p.Q775del NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 8 162 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710012 38710013 + RNA INS - - A rs71402229 TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr2:38710012_38710013insA ENST00000417039.1 - 0 696 CTTACTTCTTtaaaaaataaat 0.252 2 4 --- --- --- --- FASTKD3 79072 broad.mit.edu 37 5 7867503 7867504 + Frame_Shift_Del DEL CT CT - TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr5:7867503_7867504delCT ENST00000264669.5 - 2 829_830 c.693_694delAG c.(691-696)tcgtfs p.SG231fs MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 231 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTCACACAACCTGAACTGTGCA 0.421 10 78 --- --- --- --- NUTM2E 0 broad.mit.edu 37 10 81609654 81609654 + Frame_Shift_Del DEL G G - TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr10:81609654delG ENST00000429984.3 + 7 2312 c.1929delG c.(1927-1929)ttfs p.L643fs NUTM2E_ENST00000602967.1_3'UTR CAGCCCGGTTGGACTCAAGTT 0.597 2 4 --- --- --- --- MYO1H 283446 broad.mit.edu 37 12 109831174 109831174 + Frame_Shift_Del DEL C C - TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr12:109831174delC ENST00000310903.5 + 3 271 c.165delC c.(163-165)tafs p.Y55fs MYO1H_ENST00000431443.2_Frame_Shift_Del_p.Y55fs B4DNW6 B4DNW6_HUMAN myosin IH 181 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TGAATCCATACCAGGAGCTCG 0.453 2 4 --- --- --- --- PRKD1 5587 broad.mit.edu 37 14 30396622 30396623 + In_Frame_Ins INS - - CCCGGA rs139860047 by1000genomes TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr14:30396622_30396623insCCCGGA ENST00000331968.5 - 1 325_326 c.96_97insTCCGGG c.(94-99)ggccgg>ggTCCGGGccgg p.35_36insGP PRKD1_ENST00000415220.2_In_Frame_Ins_p.35_36insGP NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 35 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GCGGGCCCGGGCCCGGACCCTG 0.762 6 5 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28900331 28900331 + RNA DEL A A - TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr15:28900331delA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaa 0.413 3 4 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 9 107 --- --- --- --- NEUROD2 4761 broad.mit.edu 37 17 37762632 37762632 + Frame_Shift_Del DEL T T - TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr17:37762632delT ENST00000302584.4 - 2 441 c.221delA c.(220-222)agfs p.K74fs NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 74 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) gccttcctcctTGACCTCGGC 0.726 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 4 9 --- --- --- --- ARMCX2 9823 broad.mit.edu 37 X 100911610 100911612 + In_Frame_Del DEL GCA GCA - TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 979f7fd8-ab07-40a0-869a-d08fb8e598ff c6066220-b6fd-47d0-8daf-6eceb9a01b57 g.chrX:100911610_100911612delGCA ENST00000328766.5 - 5 1416_1418 c.963_965delTGC c.(961-966)gca>gc p.AA321del ARMCX2_ENST00000330154.2_In_Frame_Del_p.AA321del|ARMCX2_ENST00000356824.4_In_Frame_Del_p.AA321del NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 321 integral to membrane binding p.G316fs*3(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 AGCAGAGGCTGCAGCAGCTGCTG 0.586 10 135 --- --- --- ---