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 DGCR5 26220 broad.mit.edu 37 22 19002009 19002009 + RNA SNP G G T rs56157180 by1000genomes TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr22:19002009G>T ENST00000440005.2 + 0 828 DGCR5_ENST00000424407.1_RNA ACAAATCCAAGATTAGCACAG 0.458000 3 33 0.115264 0.115264 1 1 0 LTBP2 4053 broad.mit.edu 37 14 74970709 74970709 + Missense_Mutation SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr14:74970709C>T ENST00000261978.4 - 31 4888 c.4502G>A c.(4501-4503)cGg>cAg p.R1501Q LTBP2_ENST00000556690.1_Missense_Mutation_p.R1457Q NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1501 EGF-like 17; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GTTGAGGCACCGGCCGTTCGG 0.572000 8 41 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909002 123909002 + Missense_Mutation SNP G G T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr11:123909002G>T ENST00000330487.5 - 1 715 c.707C>A c.(706-708)gCc>gAc p.A236D NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GGTCTGAAAGGCTCTGTGCCT 0.582000 16 124 3.41278e-10 3.77202e-10 1 1 0 RGAG1 57529 broad.mit.edu 37 X 109694677 109694677 + Missense_Mutation SNP T T C TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chrX:109694677T>C ENST00000465301.2 + 3 1078 c.832T>C c.(832-834)Tct>Cct p.S278P RGAG1_ENST00000540313.1_Missense_Mutation_p.S278P NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 278 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 AGCTGTAGCTTCTGGAGGTAC 0.483000 56 182 0 0 1 0 0 RHOXF1 158800 broad.mit.edu 37 X 119249757 119249757 + Missense_Mutation SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chrX:119249757C>T ENST00000217999.2 - 1 90 c.16G>A c.(16-18)Gtc>Atc p.V6I RP4-755D9.1_ENST00000553843.1_RNA NM_139282.1 NP_644811.1 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 6 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 GTGTCGTGGACGAGCGAACGC 0.597000 20 66 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137727136 137727136 + Missense_Mutation SNP C C G TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr5:137727136C>G ENST00000314358.5 + 8 2015 c.1815C>G c.(1813-1815)ttC>ttG p.F605L KDM3B_ENST00000394866.1_Missense_Mutation_p.F261L|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 605 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CTCCAGCCTTCCCACGGAGCC 0.537000 37 125 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54872458 54872458 + Silent SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr2:54872458C>T ENST00000333896.5 + 20 4708 c.4323C>T c.(4321-4323)gaC>gaT p.D1441D SPTBN1_ENST00000356805.4_Silent_p.D1454D NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1454 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGAGCACCGACGAGGTAGACA 0.567000 36 160 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 6 77 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170931113 170931113 + Nonsense_Mutation SNP T T G TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr1:170931113T>G ENST00000367759.4 + 6 525 c.371T>G c.(370-372)tTa>tGa p.L124* MROH9_ENST00000367758.3_Nonsense_Mutation_p.L124* NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 CTACAGATCTTAAAGGTAAAG 0.303000 6 17 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 27 0 0 1 0 0 FGF7 2252 broad.mit.edu 37 15 49716711 49716711 + Missense_Mutation SNP A A G TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr15:49716711A>G ENST00000267843.4 + 2 828 c.217A>G c.(217-219)Aca>Gca p.T73A FGF7_ENST00000560270.1_Missense_Mutation_p.T73A|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 73 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) CTTCTGTCGAACACAGTGGTA 0.408000 16 69 0 0 1 0 0 FAR2 55711 broad.mit.edu 37 12 29462141 29462141 + Missense_Mutation SNP G G T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr12:29462141G>T ENST00000182377.4 + 6 1014 c.746G>T c.(745-747)gGa>gTa p.G249V FAR2_ENST00000536681.2_Missense_Mutation_p.G249V|FAR2_ENST00000547116.1_Missense_Mutation_p.G152V|RP11-996F15.2_ENST00000553105.1_RNA NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 249 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 AATATAAATGGACCTAATGGA 0.313000 15 332 2.32078e-09 2.47813e-09 1 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146536853 146536853 + Missense_Mutation SNP G G T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr7:146536853G>T ENST00000361727.3 + 3 775 c.259G>T c.(259-261)Gtt>Ttt p.V87F NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 87 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATGGCTTCAGGTTGACTTTGG 0.478000 HNSCC(39;0.1) 18 97 6.94344e-10 7.54202e-10 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 72 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2602399 2602399 + Silent SNP G G A TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr12:2602399G>A ENST00000399655.1 + 7 1225 c.960G>A c.(958-960)acG>acA p.T320T CACNA1C_ENST00000399649.1_Silent_p.T320T|CACNA1C_ENST00000399637.1_Silent_p.T320T|CACNA1C_ENST00000399638.1_Silent_p.T320T|CACNA1C_ENST00000399603.1_Silent_p.T320T|CACNA1C_ENST00000399617.1_Silent_p.T320T|CACNA1C_ENST00000347598.4_Silent_p.T320T|CACNA1C_ENST00000399595.1_Silent_p.T320T|CACNA1C_ENST00000399634.1_Silent_p.T320T|CACNA1C_ENST00000399601.1_Silent_p.T320T|CACNA1C_ENST00000335762.5_Silent_p.T320T|CACNA1C_ENST00000406454.3_Silent_p.T320T|CACNA1C_ENST00000399621.1_Silent_p.T320T|CACNA1C_ENST00000399644.1_Silent_p.T320T|CACNA1C_ENST00000399597.1_Silent_p.T320T|CACNA1C_ENST00000402845.3_Silent_p.T320T|CACNA1C_ENST00000344100.3_Silent_p.T320T|CACNA1C_ENST00000327702.7_Silent_p.T320T|CACNA1C_ENST00000399641.1_Silent_p.T320T|CACNA1C_ENST00000480911.1_Silent_p.T320T|CACNA1C_ENST00000399606.1_Silent_p.T320T|CACNA1C_ENST00000399629.1_Silent_p.T320T|CACNA1C_ENST00000399591.1_Silent_p.T320T NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 320 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGCTGGAAACGGGCCACGGGC 0.607000 36 74 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27126073 27126073 + Missense_Mutation SNP T T G TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr15:27126073T>G ENST00000335625.5 + 4 1055 c.167T>G c.(166-168)cTc>cGc p.L56R GABRA5_ENST00000400081.3_Missense_Mutation_p.L56R|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.L56R|GABRA5_ENST00000557449.1_3'UTR NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 56 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTGGATGGGCTCTTGGATGGC 0.498000 12 30 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121477963 121477963 + Silent SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr11:121477963C>T ENST00000260197.7 + 37 5259 c.5130C>T c.(5128-5130)atC>atT p.I1710I SORL1_ENST00000534286.1_Silent_p.I620I|SORL1_ENST00000525532.1_Silent_p.I654I|SORL1_ENST00000527934.1_Silent_p.I325I|SORL1_ENST00000532694.1_Silent_p.I556I NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1710 Fibronectin type-III 2. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TTACAGAAATCAAGAACTTAT 0.443000 7 35 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28884820 28884820 + Missense_Mutation SNP A A G TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr10:28884820A>G ENST00000375664.3 + 7 1243 c.634A>G c.(634-636)Act>Gct p.T212A WAC_ENST00000428935.1_Missense_Mutation_p.T212A|WAC_ENST00000347934.4_Intron|WAC_ENST00000354911.4_Missense_Mutation_p.T257A|WAC_ENST00000375646.1_Intron Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 257 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 GGTTCATCCAACTGCTACCCC 0.453000 42 114 0 0 1 0 0 ZNF524 147807 broad.mit.edu 37 19 56114231 56114231 + Silent SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr19:56114231C>T ENST00000591046.1 + 1 987 c.753C>T c.(751-753)gcC>gcT p.A251A ZNF524_ENST00000301073.3_Silent_p.A251A Q96C55 ZN524_HUMAN zinc finger protein 524 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CAGCAGGGGCCGAGGAGGAGG 0.687000 5 15 0 0 1 0 0 DLL1 28514 broad.mit.edu 37 6 170592399 170592399 + Silent SNP G G A rs144070852 TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr6:170592399G>A ENST00000366756.3 - 9 2301 c.1968C>T c.(1966-1968)gaC>gaT p.D656D NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 656 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TGCTGTGCGCGTCCCTGACGG 0.677000 19 45 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43612164 43612164 + Missense_Mutation SNP G G A TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr10:43612164G>A ENST00000355710.3 + 12 2501 c.2269G>A c.(2269-2271)Gtg>Atg p.V757M RET_ENST00000340058.5_Missense_Mutation_p.V757M NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 757 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CACGGTGGCCGTGAAGATGCT 0.612000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 22 213 0 0 1 0 0 DPEP2 64174 broad.mit.edu 37 16 68021789 68021789 + Missense_Mutation SNP C C A TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr16:68021789C>A ENST00000412757.2 - 11 1837 c.1172G>T c.(1171-1173)gGa>gTa p.G391V DPEP2_ENST00000393847.1_Missense_Mutation_p.G391V|DPEP2_ENST00000572888.1_Missense_Mutation_p.G391V Q9H4A9 DPEP2_HUMAN dipeptidase 2 391 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) CAGCAGGTTTCCACGAAGGAC 0.562000 58 191 1.80625e-27 2.1073e-27 1 1 0 KIAA0319L 79932 broad.mit.edu 37 1 35926030 35926030 + Missense_Mutation SNP C C A TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr1:35926030C>A ENST00000325722.3 - 9 1537 c.1303G>T c.(1303-1305)Gat>Tat p.D435Y KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 435 PKD 2. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTATCATCATCAGTGCTTTCT 0.378000 24 85 2.21704e-12 2.49416e-12 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141819775 141819775 + Nonsense_Mutation SNP G G A TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr2:141819775G>A ENST00000389484.3 - 8 2052 c.1081C>T c.(1081-1083)Cga>Tga p.R361* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 361 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATCCTTGTTCGGTTCATCCCA 0.413000 TSP Lung(27;0.18) 18 77 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222522 118222522 + Missense_Mutation SNP C C G TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chrX:118222522C>G ENST00000402510.2 - 11 2670 c.2671G>C c.(2671-2673)Gtc>Ctc p.V891L NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 891 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 GCAGAGGAGACTTCTTGTTGG 0.468000 10 41 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 70 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56737294 56737294 + Missense_Mutation SNP A A G TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr12:56737294A>G ENST00000314128.4 - 24 2458 c.2435T>C c.(2434-2436)aTt>aCt p.I812T STAT2_ENST00000557235.1_Missense_Mutation_p.I808T|STAT2_ENST00000556539.1_5'UTR P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 812 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 GATTTCTTCAATCTTTACACA 0.522000 18 43 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41820167 41820167 + Missense_Mutation SNP T T G TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr15:41820167T>G ENST00000304330.4 - 11 1435 c.1319A>C c.(1318-1320)gAt>gCt p.D440A RPAP1_ENST00000561603.1_Missense_Mutation_p.D440A NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 440 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GAAACCAGCATCCAAAAGGAG 0.567000 7 39 0 0 1 0 0 SEPT9 10801 broad.mit.edu 37 17 75493407 75493407 + Silent SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr17:75493407C>T ENST00000329047.8 + 10 2342 c.1530C>T c.(1528-1530)acC>acT p.T510T SEPT9_ENST00000427180.1_Silent_p.T416T|SEPT9_ENST00000427674.2_Silent_p.T364T|SEPT9_ENST00000585930.1_Silent_p.T304T|SEPT9_ENST00000449803.2_Silent_p.T364T|SEPT9_ENST00000431235.2_Silent_p.T364T|SEPT9_ENST00000591198.1_Silent_p.T509T|SEPT9_ENST00000423034.2_Silent_p.T521T|SEPT9_ENST00000427177.1_Silent_p.T528T|SEPT9_ENST00000588690.1_Silent_p.T364T|SEPT9_ENST00000591088.1_Silent_p.T277T|SEPT9_ENST00000592951.1_Silent_p.T277T|SEPT9_ENST00000541152.2_Silent_p.T277T|SEPT9_ENST00000590294.1_Silent_p.T510T NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 528 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) TTGAAAACACCACACACTGTG 0.587000 3 35 0 0 1 0 0 BCAP29 55973 broad.mit.edu 37 7 107236322 107236322 + Missense_Mutation SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr7:107236322C>T ENST00000379119.2 + 4 369 c.355C>T c.(355-357)Cgt>Tgt p.R119C BCAP29_ENST00000005259.4_Missense_Mutation_p.R119C|BCAP29_ENST00000445771.2_Missense_Mutation_p.R119C|BCAP29_ENST00000379117.2_Missense_Mutation_p.R119C|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379121.2_Missense_Mutation_p.R25C|BCAP29_ENST00000465919.1_Missense_Mutation_p.R25C NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 119 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 AGTTTTGAGACGTCTGGTTAC 0.333000 8 83 0 0 1 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152235965 152235965 + Missense_Mutation SNP C C A TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr2:152235965C>A ENST00000243347.3 + 6 827 c.752C>A c.(751-753)tCc>tAc p.S251Y NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 251 cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) GATCCTGTATCCAAATCCAGT 0.353000 22 94 1.55469e-16 1.78083e-16 1 1 0 ATM 472 broad.mit.edu 37 11 108160412 108160412 + Missense_Mutation SNP A A C TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr11:108160412A>C ENST00000278616.4 + 29 4705 c.4320A>C c.(4318-4320)aaA>aaC p.K1440N ATM_ENST00000452508.2_Missense_Mutation_p.K1440N NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1440 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAATTCTTAAAATATATCACC 0.323000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 12 28 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65678309 65678309 + Missense_Mutation SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr15:65678309C>T ENST00000352385.2 - 18 3249 c.3040G>A c.(3040-3042)Gct>Act p.A1014T NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1014 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TCATGGGCAGCTGGGGGGCTG 0.672000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 22 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578268 7578268 + Missense_Mutation SNP A A C TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr17:7578268A>C ENST00000420246.2 - 6 713 c.581T>G c.(580-582)cTt>cGt p.L194R TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000269305.4_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L194R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 194 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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) CACTCGGATAAGATGCTGAGG 0.552000 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) 28 38 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 6 84 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45689930 45689930 + Nonsense_Mutation SNP G G T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr17:45689930G>T ENST00000322157.4 + 18 2437 c.2200G>T c.(2200-2202)Gaa>Taa p.E734* NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.E654*|NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.E730*|RP11-580I16.2_ENST00000582389.1_RNA|RP11-580I16.2_ENST00000582066.1_RNA NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 734 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 GGACCACGTGGAAGGAAAACA 0.458000 16 68 4.7546e-09 4.99233e-09 1 1 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 42 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469745 10469745 + Silent SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr8:10469745C>T ENST00000382483.3 - 4 2086 c.1863G>A c.(1861-1863)tcG>tcA p.S621S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 621 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGCTCCTTCCGAGTCCCAGG 0.647000 7 122 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 124474 124474 + RNA SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr4:124474C>T ENST00000510175.1 + 0 55 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CTGCCACAGCCTCAGCCTCTG 0.582000 36 87 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475432 140475432 + Missense_Mutation SNP C C A TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr5:140475432C>A ENST00000194155.4 + 1 1206 c.1058C>A c.(1057-1059)aCa>aAa p.T353K NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 353 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTATGTCGACACTTATCAAT 0.473000 14 53 4.3838e-07 4.52753e-07 1 1 0 ABI3BP 25890 broad.mit.edu 37 3 100645220 100645220 + Missense_Mutation SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr3:100645220C>T ENST00000471714.1 - 2 315 c.206G>A c.(205-207)gGa>gAa p.G69E ABI3BP_ENST00000495063.1_Missense_Mutation_p.G69E|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.G69E Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 69 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GCTGCCATATCCCAGGAGAAG 0.473000 7 63 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30741108 30741108 + Missense_Mutation SNP A A C TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr22:30741108A>C ENST00000215793.7 - 4 619 c.465T>G c.(463-465)gaT>gaG p.D155E SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 155 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 TAGAGGGAGGATCAGCAATGA 0.527000 10 126 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7965114 7965114 + Silent SNP G G A TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr19:7965114G>A ENST00000539278.1 - 1 3313 c.153C>T c.(151-153)gcC>gcT p.A51A LRRC8E_ENST00000306708.6_Silent_p.G569G ACAACGATGGGGCCCGTCTGG 0.652000 11 104 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53267381 53267381 + Missense_Mutation SNP C C T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chrX:53267381C>T ENST00000396435.3 - 12 3423 c.3223G>A c.(3223-3225)Gac>Aac p.D1075N IQSEC2_ENST00000375365.2_Missense_Mutation_p.D870N|IQSEC2_ENST00000375368.5_Missense_Mutation_p.D1065N NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 1065 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 TCGCGCAGGTCGGATGTAAAG 0.567000 8 28 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306592 2306592 + Missense_Mutation SNP T T G TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr4:2306592T>G ENST00000290974.2 - 8 1814 c.1475A>C c.(1474-1476)gAg>gCg p.E492A ZFYVE28_ENST00000511071.1_Missense_Mutation_p.E462A|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.E422A NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 492 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CGCACCCACCTCCCAGCCGTC 0.652000 17 101 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49690113 49690115 + In_Frame_Del DEL GAG GAG - TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr3:49690113_49690115delGAG ENST00000296452.4 + 5 3238_3240 c.3124_3126delGAG c.(3124-3126)del p.E1045del NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1045 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGACTCCTCAGAGGAGGAGGAGC 0.675 7 68 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127626488 127626488 + Frame_Shift_Del DEL G G - TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr5:127626488delG ENST00000508053.1 - 56 7355 c.6381delC c.(6379-6381)tgfs p.C2128fs FBN2_ENST00000262464.4_Frame_Shift_Del_p.C2128fs P35556 FBN2_HUMAN fibrillin 2 2128 TB 8. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCTTACTACAGCAGCATTTTG 0.453 21 102 --- --- --- --- SMIM3 85027 broad.mit.edu 37 5 150158297 150158297 + Frame_Shift_Del DEL G G - TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr5:150158297delG ENST00000600109.1 + 1 431 c.166delG c.(166-168)ggfs p.G58fs SMIM3_ENST00000526627.1_5'UTR CGGGCGTTCCGGGGGCGGTCC 0.741 2 4 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 7 222 --- --- --- --- SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 7 3 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300804 74300804 + RNA DEL A A - TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr7:74300804delA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CTTCATACTTAAAAAAAAAAA 0.458 2 4 --- --- --- --- CNBD1 168975 broad.mit.edu 37 8 88363986 88363988 + In_Frame_Del DEL TAT TAT - TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr8:88363986_88363988delTAT ENST00000518476.1 + 9 1167_1169 c.1116_1118delTAT c.(1114-1119)agt>ag p.SI372del NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 372 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TTTATAGAAGTATTATAGGATTT 0.286 8 4 --- --- --- --- NLRP14 338323 broad.mit.edu 37 11 7064712 7064713 + Frame_Shift_Ins INS - - T TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr11:7064712_7064713insT ENST00000299481.4 + 4 1801_1802 c.1455_1456insT c.(1453-1458)gattttfs p.DF485fs NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 485 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGTTCAGGAGTTTTTTGCAGC 0.406 21 126 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 5 4 --- --- --- --- ZNF431 170959 broad.mit.edu 37 19 21365800 21365801 + Frame_Shift_Ins INS - - A TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr19:21365800_21365801insA ENST00000311048.7 + 5 838_839 c.694_695insA c.(694-696)ccafs p.P232fs ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 AGAGAATTCTTACCAATGTGAA 0.332 30 62 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50155916 50155918 + In_Frame_Del DEL CCT CCT - TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr19:50155916_50155918delCCT ENST00000360565.3 + 7 2394_2396 c.2270_2272delCCT c.(2269-2274)gcc>g p.AS757del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 757 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TCGGGGGCCGCCTCCTCCTCCTC 0.690 2 4 --- --- --- --- CPNE1 8904 broad.mit.edu 37 20 34214249 34214249 + Frame_Shift_Del DEL C C - TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chr20:34214249delC ENST00000317619.3 - 18 1922 c.1528delG c.(1528-1530)tcfs p.V510fs CPNE1_ENST00000397442.1_Frame_Shift_Del_p.V454fs|CPNE1_ENST00000397443.1_Frame_Shift_Del_p.V510fs|CPNE1_ENST00000397446.1_Frame_Shift_Del_p.V510fs|CPNE1_ENST00000352393.4_Frame_Shift_Del_p.V510fs|CPNE1_ENST00000317677.5_Frame_Shift_Del_p.V515fs|CPNE1_ENST00000397445.1_Frame_Shift_Del_p.V510fs Q99829 CPNE1_HUMAN copine I 510 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) AAGTATGAGACCAGTTGTGTG 0.632 22 319 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44928995 44928996 + Frame_Shift_Del DEL CT CT - TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f09e48-5e39-4d97-bceb-9f7efe5bc91e dc948bc3-07da-4378-861b-e7e3a5781df4 g.chrX:44928995_44928996delCT ENST00000377967.4 + 17 2136_2137 c.2095_2096delCT c.(2095-2097)cfs p.L699fs KDM6A_ENST00000543216.1_Frame_Shift_Del_p.L620fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.L654fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.L706fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 699 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TCTCAATCACCTCTCCTCTCAC 0.515 """D, N, F, S""" """renal, oesophageal SCC, MM""" 12 32 --- --- --- ---