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 PTPN23 25930 broad.mit.edu 37 3 47454084 47454084 + Missense_Mutation SNP C C G TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr3:47454084C>G ENST00000265562.4 + 24 4475 c.4398C>G c.(4396-4398)tgC>tgG p.C1466W PTPN23_ENST00000431726.1_Missense_Mutation_p.C1340W NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1466 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTCCTCCATGCAAACCCTTGG 0.602000 10 29 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84519225 84519225 + Missense_Mutation SNP G G T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr4:84519225G>T ENST00000395226.2 + 11 1236 c.1018G>T c.(1018-1020)Gca>Tca p.A340S AGPAT9_ENST00000264409.4_Missense_Mutation_p.A340S NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 340 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) GTTCGGTGATGCATTTTGGAA 0.448000 17 69 1.56452e-12 1.76425e-12 1 1 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 3 11 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128494226 128494226 + Missense_Mutation SNP G G A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr7:128494226G>A ENST00000325888.8 + 40 6944 c.6683G>A c.(6682-6684)cGg>cAg p.R2228Q RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2195Q NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2228 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TTCCTGGGCCGGGAGCGCCTG 0.716000 7 21 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138601154 138601154 + Missense_Mutation SNP G G A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr6:138601154G>A ENST00000251691.4 + 14 2480 c.2314G>A c.(2314-2316)Gtg>Atg p.V772M NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 772 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CATGAAGCAGGTGCAGACCAG 0.542000 3 37 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157454311 157454311 + Missense_Mutation SNP G G A rs150249745 TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr6:157454311G>A ENST00000346085.5 + 8 2522 c.2521G>A c.(2521-2523)Ggt>Agt p.G841S ARID1B_ENST00000275248.4_Missense_Mutation_p.G770S|ARID1B_ENST00000367148.1_Missense_Mutation_p.G828S|ARID1B_ENST00000350026.5_Missense_Mutation_p.G828S NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 828 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TGGGACTTACGGTCCACAGAT 0.473000 15 15 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51224910 51224910 + Silent SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr14:51224910C>T ENST00000245441.5 - 18 3028 c.2838G>A c.(2836-2838)agG>agA p.R946R NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Silent_p.R946R|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Silent_p.R946R|NIN_ENST00000530997.2_Silent_p.R946R|NIN_ENST00000453196.1_Silent_p.R946R NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 946 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CCCTCAGTTCCCTTTTGTGAC 0.537000 T PDGFRB MPD 46 63 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90494821 90494821 + Missense_Mutation SNP C C G TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr6:90494821C>G ENST00000369393.3 - 9 1474 c.1359G>C c.(1357-1359)tgG>tgC p.W453C MDN1_ENST00000428876.1_Missense_Mutation_p.W453C Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 453 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCGGTCGATACCAATTTCCTC 0.383000 37 93 0 0 1 0 0 ANKRD53 79998 broad.mit.edu 37 2 71206323 71206323 + Missense_Mutation SNP C C G TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr2:71206323C>G ENST00000272421.6 + 2 533 c.267C>G c.(265-267)gaC>gaG p.D89E ANKRD53_ENST00000360589.3_Missense_Mutation_p.D89E|ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000457410.1_Intron|AC007040.11_ENST00000606025.1_Intron NM_024933.3 NP_079209.3 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 89 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 CCCGCGCTGACCCCAGCCCCA 0.716000 23 54 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30359240 30359240 + Missense_Mutation SNP G G C rs138791308 TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr21:30359240G>C ENST00000361371.4 - 2 208 c.58C>G c.(58-60)Cga>Gga p.R20G LTN1_ENST00000389195.2_Missense_Mutation_p.R66G|LTN1_ENST00000389194.2_Missense_Mutation_p.R66G NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 20 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TCTGCAGCTCGGCCACTGTTT 0.433000 20 23 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42815085 42815085 + Silent SNP T T C TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr20:42815085T>C ENST00000372980.3 - 1 1133 c.261A>G c.(259-261)acA>acG p.T87T JPH2_ENST00000342272.3_Silent_p.T87T NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 87 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGAAGCCATGTGTCCACTCGC 0.612000 16 34 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19502368 19502368 + Silent SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr22:19502368C>T ENST00000407835.1 + 15 1570 c.1314C>T c.(1312-1314)ctC>ctT p.L438L CDC45_ENST00000437685.2_Silent_p.L470L|CDC45_ENST00000263201.1_Silent_p.L438L|CDC45_ENST00000404724.3_Silent_p.L392L O75419 CDC45_HUMAN cell division cycle 45 438 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 GCACCAACCTCGTCATCTCCC 0.597000 13 46 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 3 64 0 0 1 0 0 PA2G4 5036 broad.mit.edu 37 12 56503666 56503666 + Silent SNP G G A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr12:56503666G>A ENST00000303305.6 + 7 995 c.576G>A c.(574-576)caG>caA p.Q192Q RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.Q192Q NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 192 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) AGTTGAAGCAGCATGTCATCG 0.443000 3 55 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C C A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr17:7577046C>A ENST00000420246.2 - 8 1024 c.892G>T c.(892-894)Gag>Tag p.E298* TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 298 Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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) GGGGGCAGCTCGTGGTGAGGC 0.567000 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) 12 39 6.31663e-08 6.83227e-08 1 1 0 RALBP1 10928 broad.mit.edu 37 18 9524699 9524699 + Silent SNP G G A rs150447479 TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr18:9524699G>A ENST00000019317.4 + 5 1384 c.1161G>A c.(1159-1161)acG>acA p.T387T RALBP1_ENST00000383432.3_Silent_p.T387T Q15311 RBP1_HUMAN ralA binding protein 1 387 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 14 ACATGGCCACGATGCCCACGC 0.532000 5 32 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7137191 7137191 + Splice_Site SNP T T G TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr2:7137191T>G ENST00000320892.6 + 3 576 c.135_splice c.e3+1 p.L45_splice RNF144A_ENST00000467276.1_Intron NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 45 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) TTCTGTACTCTGGTTGGTCTT 0.458000 14 51 0 0 1 0 0 PAEP 5047 broad.mit.edu 37 9 138454224 138454224 + Missense_Mutation SNP A A C TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr9:138454224A>C ENST00000479141.1 + 2 225 c.181A>C c.(181-183)Atc>Ctc p.I61L PAEP_ENST00000277508.5_Missense_Mutation_p.I61L|PAEP_ENST00000371766.2_Missense_Mutation_p.I61L NM_002571.2 NP_002562.2 P09466 PAEP_HUMAN progestagen-associated endometrial protein 61 multicellular organismal development extracellular region binding|transporter activity cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) GAGGGTCCACATCACCTCACT 0.617000 13 32 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423655 33423655 + Nonsense_Mutation SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr6:33423655C>T ENST00000395064.2 + 2 1046 c.778C>T c.(778-780)Cga>Tga p.R260* NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 260 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 TGCTACTCCCCGAAAGCTTCC 0.577000 9 43 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5135731 5135731 + Missense_Mutation SNP G G A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr16:5135731G>A ENST00000427587.4 - 8 963 c.895C>T c.(895-897)Cgg>Tgg p.R299W ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.R265W|FAM86A_ENST00000587133.1_Missense_Mutation_p.R238W NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 299 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 ATCCCGGCCCGGCCTGGAAAC 0.567000 11 88 0 0 1 0 0 TFDP1 7027 broad.mit.edu 37 13 114288328 114288328 + Nonsense_Mutation SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr13:114288328C>T ENST00000375370.5 + 7 810 c.598C>T c.(598-600)Cag>Tag p.Q200* TFDP1_ENST00000544902.1_Nonsense_Mutation_p.Q105*|TFDP1_ENST00000538138.1_Nonsense_Mutation_p.Q105* NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 200 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) CAACTCGGCTCAGGAATGTCA 0.502000 TSP Lung(29;0.18) 31 41 0 0 1 0 0 FBXL6 26233 broad.mit.edu 37 8 145579637 145579637 + Missense_Mutation SNP C C A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr8:145579637C>A ENST00000331890.5 - 8 1527 c.1463G>T c.(1462-1464)aGc>aTc p.S488I FBXL6_ENST00000455319.2_Missense_Mutation_p.S482I|FBXL6_ENST00000526524.1_Intron NM_012162.2 NP_036294.1 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 488 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CCTGACAGTGCTTGGTGTGAC 0.637000 15 29 4.14922e-12 4.58143e-12 1 1 0 IGSF9 57549 broad.mit.edu 37 1 159912790 159912790 + Silent SNP G G A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr1:159912790G>A ENST00000368094.1 - 3 407 c.210C>T c.(208-210)ttC>ttT p.F70F IGSF9_ENST00000361509.3_Silent_p.F70F NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 70 Ig-like 1. cell junction|integral to membrane|synapse p.F70F(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AGTAGAGGCCGAACTGGATGA 0.602000 5 53 0 0 1 0 0 BPIFB4 149954 broad.mit.edu 37 20 31671327 31671327 + Silent SNP C C A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr20:31671327C>A ENST00000375483.3 + 3 324 c.324C>A c.(322-324)atC>atA p.I108I NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 108 cytoplasm|extracellular region lipid binding ATGGTGAGATCCTTGAGTCCG 0.532000 28 70 1.08312e-15 1.24794e-15 1 1 0 RPL3L 6123 broad.mit.edu 37 16 1996981 1996981 + Silent SNP G G A rs148725709 TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr16:1996981G>A ENST00000268661.7 - 6 901 c.807C>T c.(805-807)gcC>gcT p.A269A NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 269 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 CCTTCTGCCCGGCCCGAGCAA 0.662000 28 78 0 0 1 0 0 RAB33A 9363 broad.mit.edu 37 X 129318354 129318354 + Silent SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chrX:129318354C>T ENST00000257017.4 + 2 768 c.354C>T c.(352-354)gaC>gaT p.D118D NM_004794.2 NP_004785.1 Q14088 RB33A_HUMAN RAB33A, member RAS oncogene family 118 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5) 11 TCGTCTATGACGTCACCAAGA 0.517000 4 29 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44949994 44949994 + Missense_Mutation SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chrX:44949994C>T ENST00000377967.4 + 26 3804 c.3763C>T c.(3763-3765)Cgg>Tgg p.R1255W KDM6A_ENST00000543216.1_Missense_Mutation_p.R1176W|KDM6A_ENST00000536777.1_Missense_Mutation_p.R1210W|KDM6A_ENST00000382899.4_Missense_Mutation_p.R1262W NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1255 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.R1255W(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GGCAGTGGAACGGTACGAATG 0.388000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 3 38 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40395884 40395884 + Nonsense_Mutation SNP G G A rs146994069 TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr19:40395884G>A ENST00000221347.6 - 15 7520 c.7513C>T c.(7513-7515)Cga>Tga p.R2505* NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2505 VWFD 6. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACACTGACTCGCCCATTACCC 0.627000 18 101 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141930 29141930 + Missense_Mutation SNP G G A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr6:29141930G>A ENST00000377167.2 + 1 620 c.518G>A c.(517-519)cGc>cAc p.R173H NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TGTGGACATCGCCTAGTGGAT 0.468000 37 121 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62993383 62993383 + Missense_Mutation SNP G G A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr15:62993383G>A ENST00000561311.1 + 16 1896 c.1666G>A c.(1666-1668)Gga>Aga p.G556R TLN2_ENST00000306829.6_Missense_Mutation_p.G556R Q9Y4G6 TLN2_HUMAN talin 2 556 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TATCACGGCCGGAACGGCTTC 0.438000 3 58 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215408192 215408192 + Missense_Mutation SNP G G A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr1:215408192G>A ENST00000444842.2 + 7 1135 c.985G>A c.(985-987)Gct>Act p.A329T KCNK2_ENST00000391894.2_Missense_Mutation_p.A314T|KCNK2_ENST00000391895.2_Missense_Mutation_p.A325T NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 329 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CAGAGCACACGCTGCTGAGTG 0.458000 23 57 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855943 12855943 + Missense_Mutation SNP G G T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr1:12855943G>T ENST00000332296.7 + 4 1326 c.1223G>T c.(1222-1224)aGc>aTc p.S408I PRAMEF1_ENST00000400814.3_Missense_Mutation_p.S163I NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 408 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGCAAGTTAAGCCTGGAGACG 0.542000 5 106 0.00198382 0.00206161 1 1 0 LZTS1 11178 broad.mit.edu 37 8 20110316 20110316 + Missense_Mutation SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr8:20110316C>T ENST00000381569.1 - 3 1483 c.1126G>A c.(1126-1128)Gcg>Acg p.A376T LZTS1_ENST00000522290.1_Missense_Mutation_p.A376T|LZTS1_ENST00000265801.6_Missense_Mutation_p.A376T Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 376 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TCCTCCAGCGCGGGGCCGAAG 0.662000 8 26 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50074463 50074463 + Missense_Mutation SNP A A G TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr5:50074463A>G ENST00000281631.5 + 9 807 c.649A>G c.(649-651)Aca>Gca p.T217A PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.T196A|PARP8_ENST00000503750.2_Missense_Mutation_p.T217A|PARP8_ENST00000514067.2_Missense_Mutation_p.T217A|PARP8_ENST00000505697.2_Missense_Mutation_p.T217A|PARP8_ENST00000511363.2_3'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 217 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) CTGTTCACTTACACAGTATTT 0.318000 38 65 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74329100 74329100 + Missense_Mutation SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr2:74329100C>T ENST00000409262.3 + 9 4780 c.4780C>T c.(4780-4782)Cgg>Tgg p.R1594W NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1594 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGAGGCTGCCCGGCTGGGCCT 0.662000 18 17 0 0 1 0 0 CDK7 1022 broad.mit.edu 37 5 68565120 68565120 + Splice_Site SNP G G A rs111845256 TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr5:68565120G>A ENST00000502604.1 + 8 925 c.435_splice c.e8+1 p.P145_splice CDK7_ENST00000256443.3_Splice_Site_p.P238_splice|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000514676.1_Splice_Site_p.P201_splice P50613 CDK7_HUMAN cyclin-dependent kinase 7 238 Protein kinase. androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity endometrium(1)|lung(2) 3 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) AACAGTGGCCGGTAAGCCTTT 0.363000 Nucleotide excision repair (NER) 4 77 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710850 14710850 + Silent SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr19:14710850C>T ENST00000547437.1 + 12 827 c.750C>T c.(748-750)cgC>cgT p.R250R CLEC17A_ENST00000417570.1_Silent_p.R250R|CLEC17A_ENST00000397439.2_Silent_p.R233R NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 250 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity CAGACTGCCGCCGAATTACCT 0.552000 28 41 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 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 5 88 0 0 1 0 0 CTC-457E21.3 0 broad.mit.edu 37 19 22783087 22783087 + RNA SNP A A T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr19:22783087A>T ENST00000600260.1 + 0 594 NR_033899.1 CTCCAAGCCCAGGTACAGGAC 0.642000 5 12 0 0 1 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79598725 79598725 + Silent SNP T T C TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr8:79598725T>C ENST00000263849.4 + 4 336 c.234T>C c.(232-234)tcT>tcC p.S78S ZC2HC1A_ENST00000521176.1_3'UTR NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 78 AGAAACCATCTAATTGGAGAA 0.338000 4 7 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93125791 93125791 + Missense_Mutation SNP A A T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr14:93125791A>T ENST00000216487.7 + 7 2471 c.2312A>T c.(2311-2313)gAc>gTc p.D771V RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 771 VPS9. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CTCATCTACGACTCCATGGCC 0.567000 9 49 0 0 1 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 3 56 0 0 1 0 0 ITFG1 81533 broad.mit.edu 37 16 47196504 47196504 + Missense_Mutation SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr16:47196504C>T ENST00000320640.6 - 15 1753 c.1525G>A c.(1525-1527)Gca>Aca p.A509T ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 509 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) AGAAAATTTGCGCTCCGACCT 0.358000 3 62 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23932059 23932059 + Silent SNP C C T TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr15:23932059C>T ENST00000331837.4 - 1 391 c.306G>A c.(304-306)gcG>gcA p.A102A NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 102 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TGAGCTCGTGCGCCTTCTGCA 0.657000 Prader-Willi syndrome 19 96 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 449902 449902 + Missense_Mutation SNP G G A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr9:449902G>A ENST00000432829.2 + 45 6048 c.5732G>A c.(5731-5733)gGc>gAc p.G1911D DOCK8_ENST00000382329.1_Missense_Mutation_p.G1446D|DOCK8_ENST00000469391.1_Missense_Mutation_p.G1879D|DOCK8_ENST00000453981.1_Missense_Mutation_p.G1979D NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1979 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GTGCTGCAAGGCTCTGTGGGA 0.473000 36 25 0 0 1 0 0 JUND 3727 broad.mit.edu 37 19 18391896 18391896 + Missense_Mutation SNP C C A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr19:18391896C>A ENST00000252818.3 - 1 536 c.399G>T c.(397-399)gaG>gaT p.E133D NM_005354.4 NP_005345.3 P17535 JUND_HUMAN jun D proto-oncogene 133 regulation of transcription from RNA polymerase II promoter chromatin|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(2)|prostate(1) 3 CGAACTCCTGCTCCTCGCTGG 0.706000 4 11 0.184627 0.184627 1 1 0 CCDC88A 55704 broad.mit.edu 37 2 55523004 55523004 + Missense_Mutation SNP T T G TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr2:55523004T>G ENST00000436346.1 - 31 6121 c.5280A>C c.(5278-5280)aaA>aaC p.K1760N CCDC88A_ENST00000263630.8_Missense_Mutation_p.K1732N|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000422883.2_Missense_Mutation_p.K261N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K1759N NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1760 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TATCTTCAGTTTTTCGAGGAC 0.428000 26 66 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167328878 167328878 + Missense_Mutation SNP G G A TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr2:167328878G>A ENST00000409855.1 - 5 647 c.521C>T c.(520-522)tCc>tTc p.S174F NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 174 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ACCGAGGAAGGAAAATGATCC 0.348000 8 5 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 7 174 --- --- --- --- CCT4 10575 broad.mit.edu 37 2 62099679 62099681 + In_Frame_Del DEL AAC AAC - TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr2:62099679_62099681delAAC ENST00000394440.3 - 11 1464_1466 c.1168_1170delGTT c.(1168-1170)del p.V390del AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_In_Frame_Del_p.V360del|CCT4_ENST00000538252.1_In_Frame_Del_p.V334del|CCT4_ENST00000544185.1_In_Frame_Del_p.V240del|CCT4_ENST00000461540.2_Intron NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 390 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) TAGAACCACGAACAACAATTGTA 0.404 9 94 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - A rs74546027 TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr16:3546140_3546141insA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 2 4 --- --- --- --- PPL 5493 broad.mit.edu 37 16 4960866 4960867 + Frame_Shift_Del DEL CT CT - TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr16:4960866_4960867delCT ENST00000345988.2 - 2 235_236 c.146_147delAG c.(145-147)gfs p.E49fs PPL_ENST00000590782.2_Frame_Shift_Del_p.E49fs NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 49 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GCATCTTGGCCTCTGTGTCCAC 0.589 13 95 --- --- --- --- CHD9 80205 broad.mit.edu 37 16 53269119 53269119 + Frame_Shift_Del DEL G G - TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr16:53269119delG ENST00000566029.1 + 11 2743 c.2534delG c.(2533-2535)tgfs p.W845fs CHD9_ENST00000447540.1_Frame_Shift_Del_p.W845fs|CHD9_ENST00000564845.1_Frame_Shift_Del_p.W845fs|CHD9_ENST00000398510.3_Frame_Shift_Del_p.W845fs Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 845 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TCTAATATTTGGAAGAAAATA 0.358 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578495 7578501 + Frame_Shift_Del DEL CAGCTGC CAGCTGC - TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr17:7578495_7578501delCAGCTGC ENST00000420246.2 - 5 561_567 c.429_435delGCAGCTG c.(427-435)gtfs p.VQL143fs TP53_ENST00000455263.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VQL143fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 143 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.Q144*(36)|p.L145P(17)|p.L145Q(17)|p.Q144L(8)|p.0?(8)|p.L145L(8)|p.L145R(7)|p.Q144H(4)|p.Q144R(4)|p.Q144P(4)|p.Q144fs*25(3)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q12*(2)|p.Q144Q(2)|p.Q51*(2)|p.V143V(2)|p.L145V(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.L145del(1)|p.W146fs*25(1)|p.A138_V143delAKTCPV(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.Q51fs*25(1)|p.V143_S149del(1)|p.Q144_G154del11(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.Q144fs*4(1)|p.L145M(1)|p.Q12fs*25(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) AATCAACCCACAGCTGCACAGGGCAGG 0.599 111 """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) 10 37 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-ZG-A9M4-01A-11D-A41K-08 TCGA-ZG-A9M4-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c32797e-d804-4cab-a0c1-2aebeed8f037 231d6294-d947-400e-a0c1-15694c4839c9 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 7 81 --- --- --- ---