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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 298 0 0 0.009096 0 0 PRPF8 10594 broad.mit.edu 37 17 1577065 1577065 + Missense_Mutation SNP G G A TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr17:1577065G>A ENST00000572621.1 - 21 3686 c.3421C>T c.(3421-3423)Cgc>Tgc p.R1141C PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1141 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TTCATGAGGCGCATGCGGGCA 0.517000 5 159 0 0 0.001168 0 0 TPO 7173 broad.mit.edu 37 2 1499888 1499888 + Missense_Mutation SNP G G A TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr2:1499888G>A ENST00000345913.4 + 12 2225 c.2134G>A c.(2134-2136)Ggc>Agc p.G712S TPO_ENST00000382201.3_Missense_Mutation_p.G655S|TPO_ENST00000349624.3_Missense_Mutation_p.G539S|TPO_ENST00000346956.3_Missense_Mutation_p.G712S|TPO_ENST00000337415.3_Missense_Mutation_p.G712S|TPO_ENST00000329066.4_Missense_Mutation_p.G712S|TPO_ENST00000382198.1_Missense_Mutation_p.G539S|TPO_ENST00000497517.2_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 712 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTTCCAAGTCGGCAAATTCCC 0.562000 7 42 0 0 0.010729 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 93 0 0 0.001168 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224962 26224962 + Silent SNP T T C TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr7:26224962T>C ENST00000056233.3 + 4 1903 c.1644T>C c.(1642-1644)ccT>ccC p.P548P NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 548 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 TGCATATCCCTTTTTCTGTAG 0.418000 3 143 0 0 0.004672 0 0 MAML3 55534 broad.mit.edu 37 4 140811093 140811093 + Silent SNP C C T rs72161425 TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr4:140811093C>T ENST00000509479.2 - 2 2353 c.1497G>A c.(1495-1497)caG>caA p.Q499Q MAML3_ENST00000327122.5_Silent_p.Q343Q|MAML3_ENST00000398940.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 499 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.527000 3 56 0 0 0.009096 0 0 RPS19BP1 91582 broad.mit.edu 37 22 39925565 39925565 + Missense_Mutation SNP T T C rs138779327 by1000genomes TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr22:39925565T>C ENST00000334678.3 - 4 459 c.343A>G c.(343-345)Aag>Gag p.K115E NM_194326.2 NP_919307.1 Q86WX3 AROS_HUMAN ribosomal protein S19 binding protein 1 115 nucleolus|nucleoplasm endometrium(1)|kidney(1)|large_intestine(1) 3 Melanoma(58;0.04) CCCTCAGCCTTCTTCTTCTTG 0.607000 OREG0026578 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 121 0 0 0.004672 0 0 CTBP1-AS2 0 broad.mit.edu 37 4 1244636 1244636 + RNA SNP C C T TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr4:1244636C>T ENST00000581398.1 + 0 590 CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA NR_033339.1 CAGGCAGCCACGTGGCTGAGT 0.547000 5 67 0 0 0.000602 0 0 FGF5 2250 broad.mit.edu 37 4 81207632 81207632 + Missense_Mutation SNP C C G TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr4:81207632C>G ENST00000312465.7 + 3 839 c.613C>G c.(613-615)Cgg>Ggg p.R205G FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 205 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 GTGCAGCCCCCGGGTTAAACC 0.463000 49 88 0 0 0.014410 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195379 18195379 + Silent SNP T T C TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr11:18195379T>C ENST00000314254.3 + 1 996 c.576T>C c.(574-576)tgT>tgC p.C192C RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 192 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TGGTTCTCTGTGTTTCCAGCC 0.522000 5 157 0 0 0.000602 0 0 KLK10 5655 broad.mit.edu 37 19 51518742 51518742 + Silent SNP G G A TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr19:51518742G>A ENST00000309958.3 - 5 827 c.609C>T c.(607-609)gtC>gtT p.V203V KLK10_ENST00000358789.3_Silent_p.V203V|KLK10_ENST00000391805.1_Silent_p.V203V NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 203 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CAGGGTAGAAGACCTCACACT 0.552000 111 220 0 0 0.014410 0 0 NCOR1P1 0 broad.mit.edu 37 20 26094525 26094525 + RNA SNP T T C rs62211580 by1000genomes TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr20:26094525T>C ENST00000478176.1 - 0 139 NR_003678.1 p.H33R(1) CTGCTGGTGGTGGGTGCTGGG 0.393000 5 26 0 0 0.008291 0 0 JHDM1D 0 broad.mit.edu 37 7 139824520 139824520 + Missense_Mutation SNP T T G TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr7:139824520T>G ENST00000397560.2 - 7 1049 c.952A>C c.(952-954)Agt>Cgt p.S318R JHDM1D_ENST00000006967.5_Missense_Mutation_p.S318R NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 318 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) ACAGATGAACTCCAAGATTCA 0.358000 18 32 0 0 0.006122 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 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 25 44 0 0 0.006320 0 0 APPL1 26060 broad.mit.edu 37 3 57291436 57291436 + Silent SNP A A G TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr3:57291436A>G ENST00000288266.3 + 15 1557 c.1410A>G c.(1408-1410)aaA>aaG p.K470K NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 470 apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) GCCAGGCAAAAGCCTTTGGCC 0.493000 3 98 0 0 0.004672 0 0 ACTRT1 139741 broad.mit.edu 37 X 127186136 127186136 + Missense_Mutation SNP C C A TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chrX:127186136C>A ENST00000371124.3 - 1 246 c.50G>T c.(49-51)gGt>gTt p.G17V NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 17 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 GAGTCCTGAACCATTGTCAAA 0.433000 40 64 2.87052e-16 4.04817e-16 0.005524 1 0 TKTL2 84076 broad.mit.edu 37 4 164393959 164393959 + Missense_Mutation SNP G G C TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr4:164393959G>C ENST00000280605.3 - 1 1088 c.928C>G c.(928-930)Cca>Gca p.P310A NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 310 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) taagcaggtggggaggtcatt 0.408000 13 205 0 0 0.002450 0 0 C3 718 broad.mit.edu 37 19 6686853 6686853 + Nonsense_Mutation SNP G G A TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr19:6686853G>A ENST00000245907.6 - 28 3642 c.3550C>T c.(3550-3552)Cag>Tag p.Q1184* NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1184 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TAGGATCTCTGTAGGTTCATG 0.512000 21 119 0 0 0.010504 0 0 ENPEP 2028 broad.mit.edu 37 4 111441429 111441429 + Missense_Mutation SNP C C G TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr4:111441429C>G ENST00000265162.5 + 10 1976 c.1634C>G c.(1633-1635)cCt>cGt p.P545R NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 545 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ATGGGTTATCCTGTGCTTAAC 0.428000 34 36 0 0 0.013726 0 0 ATP2C2 9914 broad.mit.edu 37 16 84476138 84476138 + Missense_Mutation SNP C C T TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr16:84476138C>T ENST00000416219.2 + 15 1423 c.1334C>T c.(1333-1335)gCg>gTg p.A445V ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 445 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GCCAACAATGCGGTCATCAGA 0.552000 8 363 0 0 0.008291 0 0 ADAM22 53616 broad.mit.edu 37 7 87757957 87757957 + Missense_Mutation SNP A A G TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr7:87757957A>G ENST00000398204.4 + 9 1042 c.719A>G c.(718-720)tAc>tGc p.Y240C ADAM22_ENST00000315984.7_Missense_Mutation_p.Y240C|ADAM22_ENST00000398209.3_Missense_Mutation_p.Y240C|ADAM22_ENST00000439864.1_Missense_Mutation_p.Y240C|ADAM22_ENST00000398201.4_Missense_Mutation_p.Y240C|ADAM22_ENST00000265727.7_Missense_Mutation_p.Y240C NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 240 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GAAACCAAATACATTGAACTG 0.403000 12 117 0 0 0.003163 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 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) 75 17 0 0 0.014410 0 0 PUS7L 83448 broad.mit.edu 37 12 44149037 44149037 + Silent SNP A A G TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr12:44149037A>G ENST00000416848.2 - 2 500 c.12T>C c.(10-12)gaT>gaC p.D4D PUS7L_ENST00000344862.5_Silent_p.D4D|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Silent_p.D4D|PUS7L_ENST00000553166.1_Silent_p.D4D NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 4 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TATAATCTGTATCTTCTTCCA 0.333000 5 28 0 0 0.000602 0 0 MYOM1 8736 broad.mit.edu 37 18 3188890 3188890 + Silent SNP C C T TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr18:3188890C>T ENST00000400569.3 - 4 960 c.627G>A c.(625-627)acG>acA p.T209T MYOM1_ENST00000356443.4_Silent_p.T209T|MYOM1_ENST00000261606.7_Silent_p.T209T P52179 MYOM1_HUMAN myomesin 1 209 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T209T(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCCTGGATGCCGTGGACTGCT 0.522000 5 227 0 0 0.001984 0 0 TUBBP5 0 broad.mit.edu 37 9 141070069 141070069 + RNA SNP C C T TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr9:141070069C>T ENST00000503395.1 + 0 1149 GGTACGTGCCCCGCGCTGTGC 0.711000 4 96 0 0 0.001168 0 0 SLC5A1 6523 broad.mit.edu 37 22 32498215 32498215 + Silent SNP G G A TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr22:32498215G>A ENST00000266088.4 + 13 1906 c.1656G>A c.(1654-1656)ccG>ccA p.P552P SLC5A1_ENST00000543737.1_Silent_p.P425P NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 552 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding p.P552P(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 AACCCATTCCGGATGTGCATG 0.403000 7 209 0 0 0.004482 0 0 TTLL7 79739 broad.mit.edu 37 1 84356051 84356051 + Silent SNP T T C TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr1:84356051T>C ENST00000260505.8 - 19 2699 c.2322A>G c.(2320-2322)ttA>ttG p.L774L TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 774 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) GACTCCAGAGTAAGCGATTAA 0.378000 27 31 0 0 0.010818 0 0 LEPREL1 55214 broad.mit.edu 37 3 189705423 189705423 + Missense_Mutation SNP C C A TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr3:189705423C>A ENST00000319332.5 - 5 1188 c.991G>T c.(991-993)Gcc>Tcc p.A331S LEPREL1_ENST00000427335.2_Missense_Mutation_p.A150S NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 331 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AGAAGATAGGCTTTGGCACAC 0.468000 25 92 8.58068e-18 1.24194e-17 0.007291 1 0 ARHGAP22 58504 broad.mit.edu 37 10 49791051 49791051 + Silent SNP G G A TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr10:49791051G>A ENST00000249601.4 - 2 477 c.181C>T c.(181-183)Ctg>Ttg p.L61L ARHGAP22_ENST00000417912.2_Silent_p.L61L|ARHGAP22_ENST00000435790.2_Silent_p.L67L|ARHGAP22_ENST00000491108.1_5'UTR NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 61 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCCCACGCAGCACAAACCAG 0.607000 4 226 0 0 0.000602 0 0 ADAD1 132612 broad.mit.edu 37 4 123336616 123336616 + Silent SNP A A T TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr4:123336616A>T ENST00000296513.2 + 11 1517 c.1332A>T c.(1330-1332)ccA>ccT p.P444P ADAD1_ENST00000388724.2_Silent_p.P433P|ADAD1_ENST00000388725.2_Silent_p.P426P NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 444 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CAAAACTTCCAATGTTTTACT 0.378000 62 101 0 0 0.014410 0 0 BAGE2 85319 broad.mit.edu 37 21 11047523 11047523 + RNA SNP T T C TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr21:11047523T>C ENST00000470054.1 - 0 731 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCATAATTCGTTGAAGACAAA 0.353000 5 468 0 0 0.001168 0 0 ANXA9 8416 broad.mit.edu 37 1 150955565 150955565 + Splice_Site SNP G G A TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr1:150955565G>A ENST00000368947.4 + 3 460 c.e3-1 ANXA9_ENST00000474997.1_Intron NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCCTTCCCCAGGGCAACCAGT 0.622000 5 69 0 0 0.001984 0 0 ZNF185 7739 broad.mit.edu 37 X 152083048 152083048 + Silent SNP T T C TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chrX:152083048T>C ENST00000535861.1 + 1 63 c.15T>C c.(13-15)gcT>gcC p.A5A ZNF185_ENST00000449285.2_Silent_p.A5A|ZNF185_ENST00000318504.7_Silent_p.A5A|ZNF185_ENST00000539731.1_Silent_p.A5A|ZNF185_ENST00000370268.4_Silent_p.A5A|ZNF185_ENST00000324823.6_5'UTR NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 5 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) GTATCTCAGCTCTTGGAGGCC 0.547000 7 6 0 0 0.006214 0 0 TRERF1 55809 broad.mit.edu 37 6 42196227 42196227 + Frame_Shift_Del DEL G G - TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr6:42196227delG ENST00000541110.1 - 18 4087 c.3519delC c.(3517-3519)atfs p.I1173fs TRERF1_ENST00000372922.4_Frame_Shift_Del_p.I1153fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.I1082fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.I1070fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.I1082fs Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1153 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGATGGGTTTGATCAGACTCA 0.602 7 400 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 3 2 --- --- --- --- FAM157B 0 broad.mit.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr9:141107536_141107537insGCA ENST00000446912.2 + 0 19_20 P0CG42 F157B_HUMAN CGgcagcggcggcagcagcagc 0.545 3 5 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 6 7 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 4 3 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939674 76939674 + Frame_Shift_Del DEL T T - TCGA-CS-4938-01B-11D-1893-08 TCGA-CS-4938-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2ec659e-22b1-4ff3-ad03-770c74414e05 4db52c00-aa66-48f7-b32b-1c2ec0dec7f5 g.chrX:76939674delT ENST00000373344.5 - 9 1288 c.1074delA c.(1072-1074)aafs p.K358fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K320fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 358 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCTCAATCAGTTTTTTTGCCT 0.368 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 100 144 --- --- --- ---