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 GLYAT 10249 broad.mit.edu 37 11 58480360 58480360 + Splice_Site SNP C C A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr11:58480360C>A ENST00000344743.3 - 4 331 c.e4-1 GLYAT_ENST00000278400.3_Splice_Site|GLYAT_ENST00000529732.1_Splice_Site NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) CTGTCATATCCTGTTATCATT 0.303000 13 54 5.50884e-06 5.75924e-06 1 1 0 SNHG14 0 broad.mit.edu 37 15 25310215 25310215 + RNA SNP G G T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr15:25310215G>T ENST00000549804.2 + 0 538 SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA CCTTGGAAAAGCTGAACAAAA 0.473000 7 400 0.000274275 0.000282462 1 1 0 MEIS2 4212 broad.mit.edu 37 15 37329146 37329146 + Missense_Mutation SNP T T G TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr15:37329146T>G ENST00000338564.5 - 9 1215 c.769A>C c.(769-771)Aac>Cac p.N257H MEIS2_ENST00000424352.2_Missense_Mutation_p.N257H|MEIS2_ENST00000444725.1_Missense_Mutation_p.N257H|MEIS2_ENST00000382766.2_Missense_Mutation_p.N257H|MEIS2_ENST00000561208.1_Missense_Mutation_p.N257H|MEIS2_ENST00000340545.5_Missense_Mutation_p.N244H|MEIS2_ENST00000559561.1_Missense_Mutation_p.N257H|MEIS2_ENST00000397620.2_Missense_Mutation_p.N169H|MEIS2_ENST00000557796.2_Missense_Mutation_p.N244H|MEIS2_ENST00000219869.9_Missense_Mutation_p.N111H|MEIS2_ENST00000397624.3_Missense_Mutation_p.N169H|MEIS2_ENST00000559085.1_Missense_Mutation_p.N244H NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 257 Asp/Glu-rich (acidic). negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) GCTACACTGTTGTCTAAACCA 0.408000 57 80 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 3 18 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 101847197 101847197 + Missense_Mutation SNP G G A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr6:101847197G>A ENST00000369138.1 + 1 534 c.44G>A c.(43-45)cGc>cAc p.R15H GRIK2_ENST00000413795.1_Missense_Mutation_p.R15H|GRIK2_ENST00000358361.3_Missense_Mutation_p.R15H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R15H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R15H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R15H NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 15 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GTCTTCAGGCGCACCGTTAAA 0.473000 4 244 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450564 158450564 + Silent SNP G G A rs146808200 TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr1:158450564G>A ENST00000368152.1 + 1 897 c.897G>A c.(895-897)acG>acA p.T299T RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TGACATACACGATTGTCACTC 0.433000 26 41 0 0 1 0 0 SCARF2 0 broad.mit.edu 37 22 20783912 20783912 + Silent SNP G G A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr22:20783912G>A ENST00000405555.3 - 8 1405 c.1335C>T c.(1333-1335)ggC>ggT p.G445G SCARF2_ENST00000266214.5_Silent_p.G445G NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 445 cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCGCGCCCGCGCCCATCACGC 0.677000 8 76 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56538685 56538685 + Silent SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr19:56538685C>T ENST00000390649.3 + 7 1086 c.1086C>T c.(1084-1086)gaC>gaT p.D362D NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 362 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCATCATTGACGGTTTCGATG 0.547000 12 17 0 0 1 0 0 EIF4E 1977 broad.mit.edu 37 4 99812468 99812468 + Missense_Mutation SNP A A C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr4:99812468A>C ENST00000450253.2 - 3 1665 c.141T>G c.(139-141)ttT>ttG p.F47L EIF4E_ENST00000504432.1_Missense_Mutation_p.F75L|EIF4E_ENST00000280892.6_Missense_Mutation_p.F67L|EIF4E_ENST00000505992.1_Missense_Mutation_p.F47L NM_001968.3 NP_001959.1 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 47 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) CATTTTTAAAAAACCAgagtg 0.343000 30 33 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 3 15 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133220429 133220429 + Missense_Mutation SNP C C G TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr12:133220429C>G ENST00000320574.5 - 33 4327 c.4284G>C c.(4282-4284)gaG>gaC p.E1428D POLE_ENST00000535270.1_Missense_Mutation_p.E1401D NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1428 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCACCTGAGTCTCATATACGC 0.567000 DNA polymerases (catalytic subunits) 13 49 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79959998 79959998 + Missense_Mutation SNP G G C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr9:79959998G>C ENST00000360280.3 + 52 7489 c.7229G>C c.(7228-7230)gGa>gCa p.G2410A VPS13A_ENST00000376634.4_Missense_Mutation_p.G2410A|VPS13A_ENST00000376636.3_Missense_Mutation_p.G2371A|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2410A NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2410 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TATCATGATGGAGCAGCTACA 0.318000 15 108 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64656884 64656884 + Silent SNP A A T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr14:64656884A>T ENST00000357395.3 + 100 18266 c.7122A>T c.(7120-7122)gcA>gcT p.A2374A SYNE2_ENST00000554584.1_Silent_p.A5852A|SYNE2_ENST00000555002.1_Silent_p.A2623A|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.A2374A|SYNE2_ENST00000344113.4_Silent_p.A5989A|SYNE2_ENST00000358025.3_Silent_p.A5989A Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5989 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AATCAAGAGCAGCTGAGATCG 0.398000 30 56 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60687797 60687797 + Silent SNP G G T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr2:60687797G>T ENST00000335712.6 - 4 2477 c.2250C>A c.(2248-2250)gtC>gtA p.V750V BCL11A_ENST00000358510.4_Silent_p.V716V|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000538214.1_Silent_p.V716V|BCL11A_ENST00000477659.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 750 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) AGTTCTTGAAGACTTTCCCAC 0.562000 T IGH@ B-CLL 88 128 1.26458e-31 1.38502e-31 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 6 134 0 0 1 0 0 IGKV1-16 0 broad.mit.edu 37 2 89399378 89399378 + RNA SNP A A G TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr2:89399378A>G ENST00000479981.1 - 0 351 TGTTGGCAGTAATAAGTTGCA 0.507000 66 124 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76389360 76389360 + Silent SNP T T C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr16:76389360T>C ENST00000307431.8 + 4 724 c.339T>C c.(337-339)agT>agC p.S113S CNTNAP4_ENST00000478060.1_Silent_p.S89S|CNTNAP4_ENST00000476707.1_Silent_p.S117S|CNTNAP4_ENST00000377504.4_Silent_p.S113S|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 114 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TGATGTTCAGTGATAGTGGCT 0.478000 46 67 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005383 25005383 + Missense_Mutation SNP G G C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr4:25005383G>C ENST00000382114.4 - 8 1513 c.1328C>G c.(1327-1329)tCc>tGc p.S443C NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 443 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CATGACCCGGGAGTCCCCGAT 0.532000 111 157 0 0 1 0 0 TMPO 7112 broad.mit.edu 37 12 98927085 98927085 + Silent SNP A A G rs147812883 byFrequency TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr12:98927085A>G ENST00000266732.4 + 4 1288 c.1050A>G c.(1048-1050)caA>caG p.Q350Q TMPO_ENST00000261210.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron NM_003276.2 NP_003267.1 P42167 LAP2B_HUMAN thymopoietin 256 Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTTCAGATCAATCGCCTCTCT 0.418000 6 87 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 76 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55405900 55405900 + Missense_Mutation SNP G G A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr11:55405900G>A ENST00000314612.2 + 1 67 c.67G>A c.(67-69)Gtc>Atc p.V23I NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 GAACATTGAAGTCCTCTGCTT 0.363000 56 100 0 0 1 0 0 PRSS21 10942 broad.mit.edu 37 16 2871093 2871093 + Missense_Mutation SNP G G A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr16:2871093G>A ENST00000455114.1 + 5 788 c.682G>A c.(682-684)Ggg>Agg p.G228R PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Missense_Mutation_p.G230R NM_001270452.1|NM_006799.3|NM_144956.2 NP_001257381.1|NP_006790.1|NP_659205.1 Q9Y6M0 TEST_HUMAN protease, serine, 21 (testisin) 230 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 15 TGCCCAAGGCGGGAAGGATGC 0.542000 88 142 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168890 142168890 + RNA SNP C C T rs143671051 by1000genomes TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr7:142168890C>T ENST00000454561.2 - 0 155 GGGCTTGGTCCTCCTGGGGAA 0.592000 6 24 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66945164 66945164 + Silent SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr16:66945164C>T ENST00000299752.4 - 14 2038 c.1845G>A c.(1843-1845)ggG>ggA p.G615G CDH16_ENST00000565796.1_Silent_p.G615G|CDH16_ENST00000394055.3_Silent_p.G615G|CDH16_ENST00000568632.1_Silent_p.G518G|CDH16_ENST00000570262.1_Silent_p.G535G NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 615 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGTGCACCTCCCCGGAGAATT 0.602000 12 15 0 0 1 0 0 GLTSCR2 29997 broad.mit.edu 37 19 48248903 48248903 + Silent SNP G G T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr19:48248903G>T ENST00000246802.5 + 1 125 c.87G>T c.(85-87)tcG>tcT p.S29S GLTSCR2_ENST00000598681.1_3'UTR NM_015710.4 NP_056525.2 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 29 nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) GGCCCACTTCGGTGGACCCAG 0.657000 42 69 3.77016e-25 4.0647e-25 1 1 0 B3GNT2 10678 broad.mit.edu 37 2 62449961 62449961 + Missense_Mutation SNP T T A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr2:62449961T>A ENST00000301998.4 + 2 858 c.606T>A c.(604-606)agT>agA p.S202R B3GNT2_ENST00000405767.1_Missense_Mutation_p.S202R NM_006577.5 NP_006568.2 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 202 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) AATTTGAGAGTGAGAAGCACC 0.507000 30 68 0 0 1 0 0 RPL23AP7 0 broad.mit.edu 37 2 114369647 114369647 + RNA SNP T T C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr2:114369647T>C ENST00000416673.2 - 0 509 NR_000029.3 CTTCTGAGGCTATCTGGGCTG 0.537000 56 94 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111912849 111912849 + Silent SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr6:111912849C>T ENST00000368761.5 - 2 919 c.441G>A c.(439-441)gcG>gcA p.A147A TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Silent_p.A156A|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Silent_p.A147A NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 156 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) CAGGAGAAGCCGCTGAAAGCT 0.522000 8 88 0 0 1 0 0 DDX54 79039 broad.mit.edu 37 12 113599733 113599733 + Silent SNP G G A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr12:113599733G>A ENST00000314045.7 - 18 2292 c.2265C>T c.(2263-2265)agC>agT p.S755S DDX54_ENST00000306014.5_Silent_p.S755S NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 755 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity p.S755R(1) breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TGTAGCGGCCGCTCTCTGTCT 0.592000 4 219 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244218427 244218427 + Nonsense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr1:244218427C>T ENST00000358704.4 + 2 1500 c.1351C>T c.(1351-1353)Cag>Tag p.Q451* NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 CACATGCACCCAGTGCGGCAA 0.627000 4 81 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118640423 118640423 + Missense_Mutation SNP G G C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr1:118640423G>C ENST00000336338.5 - 7 946 c.881C>G c.(880-882)aCt>aGt p.T294S NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 294 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTCCAGAAAGTTTTAAGCTC 0.328000 22 31 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112596041 112596041 + Missense_Mutation SNP T T C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr2:112596041T>C ENST00000341068.3 - 18 2861 c.2089A>G c.(2089-2091)Agg>Ggg p.R697G NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 697 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TCGGAAGGCCTTGCTTTTTTG 0.343000 33 54 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8115720 8115720 + Missense_Mutation SNP A A G TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr10:8115720A>G ENST00000379328.3 + 6 1637 c.1069A>G c.(1069-1071)Atg>Gtg p.M357V GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.M356V NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 356 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding p.M357fs*14(1) NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 ACCCCTGACTATGAAGAAGGA 0.403000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 8 35 0 0 1 0 0 GOPC 57120 broad.mit.edu 37 6 117894644 117894644 + Missense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr6:117894644C>T ENST00000535237.1 - 5 1031 c.802G>A c.(802-804)Gca>Aca p.A268T GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.A260T|GOPC_ENST00000368498.2_Missense_Mutation_p.A268T golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) CCTGGTGGTGCTTGCATTGGT 0.433000 O ROS1 glioblastoma 4 122 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113657236 113657236 + Silent SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr1:113657236C>T ENST00000361127.4 + 15 2466 c.2268C>T c.(2266-2268)gcC>gcT p.A756A LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 756 Ig-like C2-type 3. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TTGTAGATGCCGGGCTAGAAG 0.473000 4 144 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr22:41650402C>T ENST00000455915.2 - 10 2639 c.1170G>A c.(1168-1170)gaG>gaA p.E390E RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E P46060 RAGP1_HUMAN Ran GTPase activating protein 1 390 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.E390E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 cctcctcctcctcttcttcct 0.562000 3 51 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577108 7577108 + Missense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr17:7577108C>T ENST00000420246.2 - 8 962 c.830G>A c.(829-831)tGt>tAt p.C277Y TP53_ENST00000269305.4_Missense_Mutation_p.C277Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C277Y|TP53_ENST00000359597.4_Missense_Mutation_p.C277Y|TP53_ENST00000455263.2_Missense_Mutation_p.C277Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 277 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; 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.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTCCCAGGACAGGCACAAAC 0.547000 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 14 0 0 1 0 0 RIMKLA 284716 broad.mit.edu 37 1 42870214 42870214 + Missense_Mutation SNP G G A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr1:42870214G>A ENST00000431473.3 + 3 556 c.427G>A c.(427-429)Gaa>Aaa p.E143K NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 143 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 AATGATTGATGAAGCTGAGCC 0.567000 29 46 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 15 0.00116845 0.00118563 1 1 0 USHBP1 83878 broad.mit.edu 37 19 17373549 17373549 + Missense_Mutation SNP T T C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr19:17373549T>C ENST00000252597.3 - 4 627 c.454A>G c.(454-456)Aca>Gca p.T152A USHBP1_ENST00000431146.2_Missense_Mutation_p.T88A|USHBP1_ENST00000598570.1_5'UTR NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 152 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CCTTCGCTTGTGCCTTCGAAC 0.672000 34 77 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20766690 20766690 + Missense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr7:20766690C>T ENST00000404938.2 + 22 3305 c.2653C>T c.(2653-2655)Cgt>Tgt p.R885C ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 440 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GGAGAATATACGTACTATAGT 0.323000 5 49 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 6 27 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94805499 94805499 + Missense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr5:94805499C>T ENST00000358746.2 - 41 4779 c.4481G>A c.(4480-4482)cGc>cAc p.R1494H NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1494 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 CCCCATTTTGCGTTTGAATTG 0.363000 32 73 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578508 7578508 + Missense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr17:7578508C>T ENST00000420246.2 - 5 554 c.422G>A c.(421-423)tGc>tAc p.C141Y TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 141 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (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.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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) CTGCACAGGGCAGGTCTTGGC 0.572000 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) 29 28 0 0 1 0 0 AQP4 361 broad.mit.edu 37 18 24436242 24436242 + Missense_Mutation SNP A A G TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr18:24436242A>G ENST00000383168.4 - 5 1033 c.905T>C c.(904-906)aTt>aCt p.I302T AQP4_ENST00000581374.1_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000579964.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 302 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) GTCAACGTCAATCACATGCAC 0.498000 91 149 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76814253 76814253 + Nonsense_Mutation SNP G G A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chrX:76814253G>A ENST00000373344.5 - 29 6605 c.6391C>T c.(6391-6393)Cga>Tga p.R2131* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2093* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2131 Helicase C-terminal. R -> Q (in MRXSHF1; originally reported as Juberg-Marsidi syndrome). 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) ATAATTACTCGATTAGCAGCT 0.328000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 82 15 0 0 1 0 0 RCN3 57333 broad.mit.edu 37 19 50031744 50031744 + Silent SNP A A G TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr19:50031744A>G ENST00000270645.3 + 2 462 c.15A>G c.(13-15)ccA>ccG p.P5P NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 5 endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) TGTGGCGACCATCAGTTCTGC 0.667000 145 173 0 0 1 0 0 DLK2 65989 broad.mit.edu 37 6 43418746 43418746 + Missense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr6:43418746C>T ENST00000357338.3 - 6 1383 c.683G>A c.(682-684)cGg>cAg p.R228Q DLK2_ENST00000414245.1_Missense_Mutation_p.R222Q|DLK2_ENST00000372485.1_Missense_Mutation_p.R222Q|DLK2_ENST00000372488.3_Missense_Mutation_p.R228Q NM_206539.1 NP_996262.1 Q6UY11 DLK2_HUMAN delta-like 2 homolog (Drosophila) 228 EGF-like 6; calcium-binding (Potential). integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GACACGGTCCCGACAGCGGGC 0.627000 31 68 0 0 1 0 0 ZNF576 79177 broad.mit.edu 37 19 44103081 44103081 + Missense_Mutation SNP G G A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr19:44103081G>A ENST00000336564.4 + 3 338 c.184G>A c.(184-186)Gtg>Atg p.V62M SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.V62M|ZNF576_ENST00000391965.2_Missense_Mutation_p.V62M|ZNF576_ENST00000528387.1_Missense_Mutation_p.V62M|ZNF576_ENST00000525771.1_Missense_Mutation_p.V62M|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.V62M NM_001145347.1 NP_001138819.1 Q9H609 ZN576_HUMAN zinc finger protein 576 62 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|prostate(1) 2 Prostate(69;0.0199) AGCGGACTTCGTGGCCCAGAA 0.647000 10 118 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162402315 162402315 + Missense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr4:162402315C>T ENST00000306100.5 - 13 1901 c.1465G>A c.(1465-1467)Gtc>Atc p.V489I FSTL5_ENST00000379164.4_Missense_Mutation_p.V488I|FSTL5_ENST00000536695.1_Missense_Mutation_p.V488I|FSTL5_ENST00000427802.2_Missense_Mutation_p.V479I NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 489 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTGGGACAGACTTCATCCTGT 0.358000 59 100 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 71 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086694 56086694 + Missense_Mutation SNP G G C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr11:56086694G>C ENST00000312711.1 + 1 912 c.912G>C c.(910-912)tgG>tgC p.W304C NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) GAAGGACATGGAATAACTTAT 0.328000 16 39 0 0 1 0 0 C1orf172 126695 broad.mit.edu 37 1 27277235 27277235 + Missense_Mutation SNP T T C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr1:27277235T>C ENST00000320567.5 - 3 1140 c.1052A>G c.(1051-1053)cAg>cGg p.Q351R NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 351 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CTGGGAGATCTGCACTGTCAG 0.572000 9 75 0 0 1 0 0 CCDC116 164592 broad.mit.edu 37 22 21989105 21989105 + Silent SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr22:21989105C>T ENST00000292779.3 + 4 914 c.753C>T c.(751-753)ggC>ggT p.G251G NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 251 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) CAAGCTCTGGCGTGCCTGAAG 0.572000 4 176 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 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 38 54 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658975 55658975 + Missense_Mutation SNP T T C TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr11:55658975T>C ENST00000449290.2 + 7 1318 c.1226T>C c.(1225-1227)gTa>gCa p.V409A TRIM51_ENST00000244891.3_Missense_Mutation_p.V266A NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 409 B30.2/SPRY. intracellular zinc ion binding ACCAGCACAGTAGGATTATTC 0.463000 48 70 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150005421 150005421 + Nonsense_Mutation SNP C C T TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr6:150005421C>T ENST00000543571.1 - 4 1351 c.804G>A c.(802-804)tgG>tgA p.W268* LATS1_ENST00000392273.3_Nonsense_Mutation_p.W268*|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W268*|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 268 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AGTTTGGTTCCCATGAAGGGG 0.547000 70 98 0 0 1 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 7 30 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 4 9 --- --- --- --- ZSWIM8 23053 broad.mit.edu 37 10 75557164 75557165 + Frame_Shift_Ins INS - - A TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr10:75557164_75557165insA ENST00000604729.1 + 18 3760_3761 c.3463_3464insA c.(3463-3465)aacfs p.N1155fs ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.N1150fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.N1150fs|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.N1117fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.N1155fs zinc finger, SWIM-type containing 8 CAGTGCCCCTGAAACAACATCG 0.559 40 38 --- --- --- --- LHX5 64211 broad.mit.edu 37 12 113901233 113901233 + Frame_Shift_Del DEL C C - TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr12:113901233delC ENST00000261731.3 - 5 1544 c.971delG c.(970-972)gafs p.G324fs NM_022363.2 NP_071758.1 Q9H2C1 LHX5_HUMAN LIM homeobox 5 324 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 10 TTCCAGCGCTCCCAGCGGCGT 0.731 2 4 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 6 9 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 6 11 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A A - TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr19:12430217delA ENST00000293725.5 - 4 827 c.622delT c.(622-624)ggfs p.W208fs ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAACTGGGCCAAAAAAAAGCT 0.393 10 240 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15333058 15333058 + RNA DEL A A - TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chr21:15333058delA ENST00000344693.5 - 0 736 NR_027270.1 cccagaatacaacactcaaca 0.308 7 10 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-WY-A85D-01A-11D-A36O-08 TCGA-WY-A85D-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 577d0588-d7bf-4c36-bedf-48df83824fc0 4accff73-f2d9-4a7f-ac9f-54c1f1e62555 g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 7 41 --- --- --- ---