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 MACROD2 140733 broad.mit.edu 37 20 14665497 14665497 + Missense_Mutation SNP T T G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr20:14665497T>G ENST00000217246.4 + 5 705 c.310T>G c.(310-312)Tgt>Ggt p.C104G MACROD2_ENST00000310348.4_Missense_Mutation_p.C104G|MACROD2_ENST00000464883.1_3'UTR NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 104 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) AGTGGATGGCTGTATTCATAG 0.418000 14 149 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200586969 200586969 + Nonsense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:200586969G>A ENST00000367350.4 - 2 1321 c.883C>T c.(883-885)Cag>Tag p.Q295* NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 295 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CTCTTAAGCTGAGGCAGGCTG 0.363000 22 120 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33016807 33016807 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:33016807G>C ENST00000357505.6 - 7 1926 c.1822C>G c.(1822-1824)Cag>Gag p.Q608E N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.Q608E|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.Q623E NM_001278432.1 NP_001265361.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 0 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) ACTCTTGTCTGAGATTCGAAA 0.318000 4 28 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711877 140711877 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:140711877C>T ENST00000517417.1 + 1 1626 c.1626C>T c.(1624-1626)ctC>ctT p.L542L PCDHGA1_ENST00000378105.3_Silent_p.L542L NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCGCCCCTCAGCAGCAACG 0.617000 32 180 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115137119 115137119 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:115137119C>T ENST00000393274.1 - 18 3031 c.2406G>A c.(2404-2406)ttG>ttA p.L802L DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Silent_p.L690L|DENND2C_ENST00000393276.3_Silent_p.L745L NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 802 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCTCCTGAGTCAAGATTTCAT 0.378000 13 79 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768818 31768818 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:31768818C>T ENST00000240587.4 - 2 2208 c.1881G>A c.(1879-1881)aaG>aaA p.K627K NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 627 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GCTCCTTCATCTTCTCCTCCA 0.582000 9 77 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904567 5904567 + Missense_Mutation SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr20:5904567C>A ENST00000378961.4 + 4 1981 c.1777C>A c.(1777-1779)Ccc>Acc p.P593T NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 593 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CGCCAGGGTCCCCAAGCTGGA 0.493000 11 51 9.70103e-10 1.06105e-09 1 1 0 COLGALT2 23127 broad.mit.edu 37 1 183908151 183908151 + Missense_Mutation SNP T T C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:183908151T>C ENST00000361927.4 - 12 1996 c.1625A>G c.(1624-1626)tAt>tGt p.Y542C COLGALT2_ENST00000367521.1_Missense_Mutation_p.Y150C|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000367520.3_Missense_Mutation_p.Y279C|COLGALT2_ENST00000546159.1_Intron NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CCTGGATTCATAATACTCCTT 0.552000 5 31 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55256367 55256367 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:55256367G>A ENST00000381298.2 - 8 1148 c.836C>T c.(835-837)tCc>tTc p.S279F IL6ST_ENST00000381293.2_Missense_Mutation_p.S113F|IL6ST_ENST00000381294.3_Missense_Mutation_p.S279F|IL6ST_ENST00000381287.4_Missense_Mutation_p.S279F|IL6ST_ENST00000502326.3_Missense_Mutation_p.S279F|IL6ST_ENST00000536319.1_Missense_Mutation_p.S279F|IL6ST_ENST00000336909.5_Missense_Mutation_p.S279F|IL6ST_ENST00000522633.2_Missense_Mutation_p.S279F|IL6ST_ENST00000381286.3_Intron NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 279 Fibronectin type-III 2. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity p.S279C(2) breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) AGATCGGGTGGATGCTGTGTC 0.378000 O hepatocellular ca 4 48 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2026919 2026919 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr8:2026919G>A ENST00000262113.4 + 12 1508 c.1367G>A c.(1366-1368)cGa>cAa p.R456Q MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 456 Fibronectin type-III 1. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TACATATTCCGAGTGAGGGCA 0.522000 26 120 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762964 130762964 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:130762964C>G ENST00000392429.1 + 2 3775 c.1397C>G c.(1396-1398)tCt>tGt p.S466C TMEM200A_ENST00000545622.1_Missense_Mutation_p.S466C|TMEM200A_ENST00000296978.3_Missense_Mutation_p.S466C NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 466 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) ATTTCAAGATCTCACAATAAT 0.348000 17 39 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61026747 61026747 + Silent SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:61026747G>T ENST00000335613.5 - 20 2654 c.2268C>A c.(2266-2268)tcC>tcA p.S756S VWCE_ENST00000535710.1_Silent_p.S221S NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 756 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TTCCGTGAGGGGAGAGCCCCT 0.582000 14 27 1.5842e-08 1.70898e-08 1 1 0 CNNM3 26505 broad.mit.edu 37 2 97498337 97498337 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:97498337G>A ENST00000305510.3 + 8 2136 c.2108G>A c.(2107-2109)cGg>cAg p.R703Q ANKRD23_ENST00000476975.1_5'UTR|CNNM3_ENST00000377060.3_Missense_Mutation_p.R655Q NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 703 ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 AGCCCTGGGCGGAACCCAGGC 0.597000 14 83 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49039230 49039230 + Nonsense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:49039230C>T ENST00000267163.4 + 22 2446 c.2308C>T c.(2308-2310)Cag>Tag p.Q770* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 770 Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(12)|p.L769fs*2(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAATATTTTGCAGTATGCTTC 0.323000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 17 33 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310294 24310294 + Missense_Mutation SNP T T G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:24310294T>G ENST00000357002.4 + 4 1607 c.1492T>G c.(1492-1494)Tct>Gct p.S498A ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 498 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAATCTTTTAGCCA 0.408000 6 148 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108382902 108382902 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:108382902C>G ENST00000265843.4 - 6 3442 c.3332G>C c.(3331-3333)aGa>aCa p.R1111T EXPH5_ENST00000443411.1_Missense_Mutation_p.R923T|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1104T|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1035T NM_015065.2 NP_055880 Q149M6 Q149M6_HUMAN exophilin 5 1111 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TGGTCCTTTTCTAACGGAAGT 0.473000 19 66 0 0 1 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45696960 45696960 + Missense_Mutation SNP T T A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr14:45696960T>A ENST00000310806.4 - 9 2110 c.1652A>T c.(1651-1653)cAc>cTc p.H551L NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 551 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 GCAATTACTGTGGCACATGTT 0.343000 7 73 0 0 1 0 0 HIST1H2BL 8340 broad.mit.edu 37 6 27775472 27775472 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:27775472G>A ENST00000377401.2 - 1 237 c.213C>T c.(211-213)ttC>ttT p.F71F NM_003519.3 NP_003510.1 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 71 nucleosome assembly nucleosome|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 CGATGCGCTCGAAGATGTCGT 0.602000 15 164 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67047198 67047198 + Missense_Mutation SNP A A T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:67047198A>T ENST00000340001.4 - 2 281 c.70T>A c.(70-72)Tgg>Agg p.W24R ABCA9_ENST00000453985.2_Missense_Mutation_p.W24R|ABCA9_ENST00000370732.2_Missense_Mutation_p.W24R|ABCA9_ENST00000495634.1_Missense_Mutation_p.W24R NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 24 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TTCATTCTCCATTTTTTGAGA 0.378000 6 54 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39265803 39265803 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:39265803C>T ENST00000280481.7 + 1 4538 c.4322C>T c.(4321-4323)aCa>aTa p.T1441I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1441 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ACTCTTACAACAGACCTACTA 0.463000 15 67 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41565575 41565575 + Missense_Mutation SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr22:41565575A>G ENST00000263253.7 + 26 5460 c.4241A>G c.(4240-4242)tAt>tGt p.Y1414C RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1414 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Y1414C(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ACTGCAGTCTATCATGAAATC 0.333000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 37 84 0 0 1 0 0 TUFT1 7286 broad.mit.edu 37 1 151537068 151537068 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:151537068C>G ENST00000368849.3 + 5 454 c.392C>G c.(391-393)tCt>tGt p.S131C TUFT1_ENST00000353024.3_Missense_Mutation_p.S72C|TUFT1_ENST00000368848.2_Missense_Mutation_p.S106C|TUFT1_ENST00000392712.3_Intron|TUFT1_ENST00000538902.1_Missense_Mutation_p.S150C NM_020127.2 NP_064512.1 Q9NNX1 TUFT1_HUMAN tuftelin 1 131 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CTAGGAGATTCTCTCCATCGA 0.527000 4 31 0 0 1 0 0 LYPD6 130574 broad.mit.edu 37 2 150294289 150294289 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:150294289G>A ENST00000334166.4 + 2 324 c.67G>A c.(67-69)Gct>Act p.A23T LYPD6_ENST00000409381.1_Missense_Mutation_p.A23T NM_194317.3 NP_919298.1 Q86Y78 LYPD6_HUMAN LY6/PLAUR domain containing 6 23 extracellular region large_intestine(1)|lung(4) 5 BRCA - Breast invasive adenocarcinoma(221;0.0667) TCTGAAAGCTGCTCAGTCCCG 0.493000 14 37 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177777 7177777 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:7177777G>C ENST00000406697.1 + 15 2517 c.1889G>C c.(1888-1890)gGg>gCg p.G630A C1S_ENST00000402681.3_Missense_Mutation_p.G463A|C1S_ENST00000328916.3_Missense_Mutation_p.G630A|C1S_ENST00000360817.5_Missense_Mutation_p.G630A P09871 C1S_HUMAN complement component 1, s subcomponent 630 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) AGCTGTAAAGGGGACAGTGGT 0.542000 8 99 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763242 77763242 + Missense_Mutation SNP A A C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr8:77763242A>C ENST00000521891.2 + 10 4533 c.4085A>C c.(4084-4086)aAa>aCa p.K1362T ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1336T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1317T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1317T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1317 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAATGGAATAAAAATAGCAGT 0.423000 HNSCC(33;0.089) 12 24 0 0 1 0 0 IFNE 338376 broad.mit.edu 37 9 21481245 21481245 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:21481245C>T ENST00000448696.3 - 1 1067 c.449G>A c.(448-450)aGg>aAg p.R150K MIR31HG_ENST00000304425.3_RNA NM_176891.4 NP_795372.1 Q86WN2 IFNE_HUMAN interferon, epsilon 150 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 ATCATGGATCCTTCGGAAGTA 0.443000 24 179 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72838591 72838591 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:72838591G>C ENST00000293190.5 - 13 3831 c.3685C>G c.(3685-3687)Ctg>Gtg p.L1229V NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 1229 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TCTGACTCCAGACTGGAGATC 0.602000 5 13 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 3 49 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron 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 3 64 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101553314 101553314 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:101553314G>A ENST00000370449.4 + 4 453 c.340G>A c.(340-342)Gtt>Att p.V114I ABCC2_ENST00000496621.1_3'UTR|ABCC2_ENST00000370434.1_Missense_Mutation_p.V114I NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 114 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCAGCTCCTGGTTTTGCTGAT 0.463000 9 53 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135099198 135099198 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:135099198G>A ENST00000409645.1 + 8 1097 c.845G>A c.(844-846)gGa>gAa p.G282E MGAT5_ENST00000281923.2_Missense_Mutation_p.G282E Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 282 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) AAGGAATCTGGATTTAAGATT 0.438000 9 74 0 0 1 0 0 GATA5 140628 broad.mit.edu 37 20 61039961 61039961 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr20:61039961G>A ENST00000252997.2 - 7 1186 c.1125C>T c.(1123-1125)gcC>gcT p.A375A NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 375 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) GGGGGCTTGGGGCCGTGGAGG 0.672000 4 24 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807790 20807790 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:20807790G>A ENST00000601440.1 - 4 1039 c.893C>T c.(892-894)tCa>tTa p.S298L CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AGTAAGGGTTGAGGACCGGTT 0.383000 28 145 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133750303 133750303 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:133750303G>A ENST00000318560.5 + 7 1515 c.1134G>A c.(1132-1134)aaG>aaA p.K378K NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 378 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding p.?(1) breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) ACTTGGTGAAGGTAGCTGATT 0.542000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 6 77 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 154996991 154996991 + Missense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:154996991G>T ENST00000392825.3 + 4 851 c.284G>T c.(283-285)aGa>aTa p.R95I GALNT13_ENST00000409237.1_Missense_Mutation_p.R95I NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 95 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GCCCTTAATAGAAGTCTGCCA 0.328000 5 42 0.184627 0.185807 1 1 0 FYN 2534 broad.mit.edu 37 6 112041147 112041147 + Silent SNP A A C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:112041147A>C ENST00000354650.3 - 4 714 c.108T>G c.(106-108)ccT>ccG p.P36P FYN_ENST00000229471.4_Silent_p.P36P|FYN_ENST00000229470.5_Silent_p.P36P|FYN_ENST00000356013.2_Silent_p.P36P|FYN_ENST00000368678.4_Silent_p.P36P|FYN_ENST00000538466.1_Silent_p.P36P|FYN_ENST00000368682.3_Silent_p.P36P|FYN_ENST00000368667.2_Silent_p.P36P NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 36 axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) GGTAGTGCTGAGGGGTGGGGT 0.567000 6 33 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79033774 79033774 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:79033774C>T ENST00000446378.2 + 2 9217 c.9186C>T c.(9184-9186)aaC>aaT p.N3062N NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3062 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTGATTATAACATCTCCCCAG 0.338000 6 47 0 0 1 0 0 PDE3B 5140 broad.mit.edu 37 11 14865418 14865418 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:14865418C>T ENST00000282096.4 + 12 2719 c.2366C>T c.(2365-2367)tCg>tTg p.S789L PDE3B_ENST00000455098.2_Missense_Mutation_p.S738L NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 789 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TATATTTCTTCGAAGAGCTGC 0.393000 49 111 0 0 1 0 0 MARS 4141 broad.mit.edu 37 12 57892220 57892220 + Missense_Mutation SNP A A C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:57892220A>C ENST00000262027.5 + 9 1039 c.905A>C c.(904-906)cAg>cCg p.Q302P MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.Q68P NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 302 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) CGCCTCCGCCAGTGGAACACC 0.587000 5 23 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230738 147230738 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:147230738C>T ENST00000271348.2 - 2 770 c.609G>A c.(607-609)gaG>gaA p.E203E GJA5_ENST00000369237.1_Silent_p.E203E NM_005266.5 NP_005257.2 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 203 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) AGACATTCTTCTCTGTGGGCC 0.557000 5 39 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20523143 20523143 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:20523143C>T ENST00000359062.3 + 1 965 c.925C>T c.(925-927)Cgg>Tgg p.R309W RP11-284H19.1_ENST00000535755.1_RNA NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 309 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CAAGTCCCATCGGAGGACCTC 0.587000 7 18 0 0 1 0 0 TRMT2B 79979 broad.mit.edu 37 X 100275492 100275492 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:100275492C>G ENST00000338687.7 - 10 1822 c.1017G>C c.(1015-1017)tgG>tgC p.W339C TRMT2B_ENST00000545398.1_Missense_Mutation_p.W384C|TRMT2B_ENST00000372935.1_Missense_Mutation_p.W384C|TRMT2B_ENST00000372931.5_Missense_Mutation_p.W384C|TRMT2B_ENST00000372936.3_Missense_Mutation_p.W384C|TRMT2B_ENST00000372939.1_Missense_Mutation_p.W339C Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 384 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 AGGCTGCAGTCCATCTTGCAT 0.473000 19 156 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49737991 49737991 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:49737991C>T ENST00000327697.6 + 14 1341 c.1197C>T c.(1195-1197)ggC>ggT p.G399G RNF123_ENST00000432042.1_Silent_p.G253G NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 399 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CAGACCTGGGCCTACAGGTGG 0.587000 6 85 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70819875 70819875 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:70819875C>T ENST00000358731.4 + 25 5760 c.5497C>T c.(5497-5499)Cat>Tat p.H1833Y BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1833 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAGGAGAAGTCATAAAAAGTT 0.428000 7 54 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151798408 151798408 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:151798408C>T ENST00000356728.6 - 1 159 c.5G>A c.(4-6)aGa>aAa p.R2K RORC_ENST00000392697.3_Intron|RORC_ENST00000318247.6_Intron NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 0 Modulating (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCACTTACTTCTCATGACTGA 0.642000 8 77 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18377882 18377882 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:18377882C>T ENST00000392413.4 - 3 683 c.468G>A c.(466-468)acG>acA p.T156T KIAA1683_ENST00000600328.3_Silent_p.T156T|KIAA1683_ENST00000600359.3_Silent_p.T110T NM_001145304.1 NP_001138776.1 Q9H0B3 K1683_HUMAN KIAA1683 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CCTCCGCCCTCGTTTTCTTTA 0.582000 5 31 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628939 51628939 + Silent SNP C C T rs147990048 by1000genomes TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:51628939C>T ENST00000440804.3 + 2 574 c.507C>T c.(505-507)gcC>gcT p.A169A SIGLEC9_ENST00000250360.3_Silent_p.A169A NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 169 Ig-like C2-type 1. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) TGCCCTGGGCCTGTGAGCAGG 0.657000 33 55 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77664333 77664333 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:77664333G>A ENST00000407578.2 - 60 10699 c.10433C>T c.(10432-10434)tCa>tTa p.S3478L MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S3440L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3440L NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGCAACAACTGAGTATGATCT 0.383000 10 51 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52852449 52852449 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:52852449G>A ENST00000601151.1 + 3 476 c.24G>A c.(22-24)caG>caA p.Q8Q ZNF610_ENST00000321287.8_Silent_p.Q8Q|ZNF610_ENST00000403906.3_Silent_p.Q8Q|ZNF610_ENST00000327920.8_Silent_p.Q8Q NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AAGAAGCCCAGAAGAGGAAAG 0.433000 6 68 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134136632 134136632 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:134136632G>A ENST00000372271.3 - 2 796 c.429C>T c.(427-429)acC>acT p.T143T FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Silent_p.T140T NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 143 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) GGCCCACGATGGTGCAGGTCT 0.602000 12 34 0 0 1 0 0 OTUB1 55611 broad.mit.edu 37 11 63764993 63764993 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:63764993G>C ENST00000541478.1 + 4 948 c.488G>C c.(487-489)gGa>gCa p.G163A OTUB1_ENST00000428192.2_Missense_Mutation_p.G264A|OTUB1_ENST00000543988.1_Missense_Mutation_p.G234A|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000543004.1_Missense_Mutation_p.G273A|OTUB1_ENST00000422031.2_Missense_Mutation_p.G301A|OTUB1_ENST00000538426.1_Missense_Mutation_p.G264A Q96FW1 OTUB1_HUMAN OTU domain, ubiquitin aldehyde binding 1 264 OTU. protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 TACCGGCCTGGACACTACGAT 0.612000 5 65 0 0 1 0 0 PIGW 284098 broad.mit.edu 37 17 34893709 34893709 + Missense_Mutation SNP G G C rs145509687 TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:34893709G>C ENST00000592983.1 + 2 1339 c.759G>C c.(757-759)ttG>ttC p.L253F MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.L253F Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W 253 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CACTGCTGTTGATTATTTTTC 0.353000 10 86 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5469793 5469793 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr4:5469793G>A ENST00000282908.5 + 11 1524 c.1102G>A c.(1102-1104)Gag>Aag p.E368K STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.E291K|STK32B_ENST00000510398.1_Missense_Mutation_p.E321K NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 368 ATP binding|metal ion binding|protein serine/threonine kinase activity p.E368K(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 ATTCAACAGAGAGAAGTAAGT 0.522000 15 43 0 0 1 0 0 LAX1 54900 broad.mit.edu 37 1 203743172 203743172 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:203743172C>T ENST00000442561.2 + 5 950 c.560C>T c.(559-561)tCa>tTa p.S187L LAX1_ENST00000367217.5_Missense_Mutation_p.S171L|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 187 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) AGCATTTCTTCAGAGGATTCG 0.493000 7 68 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron 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 3 64 0 0 1 0 0 DUSP9 1852 broad.mit.edu 37 X 152914728 152914728 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:152914728G>A ENST00000342782.3 + 3 680 c.415G>A c.(415-417)Gag>Aag p.E139K DUSP9_ENST00000370167.4_Missense_Mutation_p.E139K Q99956 DUS9_HUMAN dual specificity phosphatase 9 139 Rhodanese. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCACCTGTGTGAGACCAGCCT 0.687000 4 48 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102923 168102923 + Missense_Mutation SNP A A C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:168102923A>C ENST00000409195.1 + 9 5110 c.5021A>C c.(5020-5022)aAg>aCg p.K1674T XIRP2_ENST00000409273.1_Missense_Mutation_p.K1452T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1674T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1499 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGATCTGTAAAGAAAGGCATC 0.333000 11 40 0 0 1 0 0 DDAH1 23576 broad.mit.edu 37 1 85790515 85790515 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:85790515C>G ENST00000284031.8 - 5 743 c.649G>C c.(649-651)Gac>Cac p.D217H DDAH1_ENST00000539042.1_Missense_Mutation_p.D217H|RP11-131L23.1_ENST00000426125.1_RNA|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000542148.1_Missense_Mutation_p.D117H|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000426972.3_Missense_Mutation_p.D124H|DDAH1_ENST00000535924.2_Missense_Mutation_p.D114H NM_012137.3 NP_036269.1 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 217 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) GCTGCTATGTCATCAGGCACA 0.443000 13 36 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141116514 141116514 + Splice_Site SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:141116514G>C ENST00000389484.3 - 73 12104 c.11133C>G c.(11131-11133)gtC>gtG p.V3711V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3711 LDL-receptor class A 30. 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) AAAGAAATTTGACTGAAGAAA 0.368000 TSP Lung(27;0.18) 8 70 0 0 1 0 0 DIEXF 27042 broad.mit.edu 37 1 210012290 210012290 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:210012290C>T ENST00000491415.2 + 7 1156 c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 367 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 AGCTGCTTTGCGGGTGGTGCA 0.502000 4 133 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55846894 55846894 + Missense_Mutation SNP A A T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr16:55846894A>T ENST00000422046.2 - 9 1285 c.1004T>A c.(1003-1005)cTt>cAt p.L335H CES1_ENST00000360526.3_Missense_Mutation_p.L336H|CES1_ENST00000361503.4_Missense_Mutation_p.L335H P23141 EST1_HUMAN carboxylesterase 1 335 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) TTCAGCTTGAAGCTCTTCAGG 0.507000 14 58 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52557053 52557053 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:52557053G>A ENST00000321725.6 + 63 6999 c.6923G>A c.(6922-6924)cGa>cAa p.R2308Q NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2308 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GTGGCCTGCCGATGCCGAAAT 0.592000 17 86 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142764631 142764631 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:142764631C>T ENST00000367609.3 + 25 4133 c.3732C>T c.(3730-3732)ttC>ttT p.F1244F GPR126_ENST00000367608.2_Silent_p.F1216F|GPR126_ENST00000296932.8_3'UTR|GPR126_ENST00000230173.6_3'UTR NM_198569.2 NP_940971 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CAGACACCTTCAGCCACAGCA 0.358000 11 58 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132560865 132560865 + Missense_Mutation SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:132560865A>G ENST00000265342.7 - 10 1538 c.1289T>C c.(1288-1290)aTt>aCt p.I430T FSTL4_ENST00000507112.1_5'UTR NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 430 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGAGTCTTCAATGAAGAGCGA 0.512000 15 57 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10355147 10355147 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:10355147C>G ENST00000377086.1 + 18 1796 c.1594C>G c.(1594-1596)Cca>Gca p.P532A KIF1B_ENST00000263934.6_Missense_Mutation_p.P486A|KIF1B_ENST00000377083.1_Missense_Mutation_p.P486A|KIF1B_ENST00000377081.1_Missense_Mutation_p.P532A|KIF1B_ENST00000377093.4_Missense_Mutation_p.P486A O60333 KIF1B_HUMAN kinesin family member 1B 532 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TTTTCAGACCCCACATCTTGT 0.428000 12 67 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55525819 55525819 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr16:55525819G>C ENST00000219070.4 + 8 1796 c.1287G>C c.(1285-1287)aaG>aaC p.K429N MMP2_ENST00000543485.1_Missense_Mutation_p.K353N|MMP2_ENST00000570308.1_Missense_Mutation_p.K353N|MMP2_ENST00000437642.2_Missense_Mutation_p.K379N NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 429 Collagenase-like 2.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CCTACACCAAGAACTTCCGTC 0.622000 6 29 0 0 1 0 0 AKR1B1 231 broad.mit.edu 37 7 134135634 134135634 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:134135634C>G ENST00000285930.4 - 3 334 c.255G>C c.(253-255)gaG>gaC p.E85D AKR1B1_ENST00000489022.1_5'UTR NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 85 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) CCAGGCCCTTCTCATGGTACG 0.552000 5 24 0 0 1 0 0 HOXA6 3203 broad.mit.edu 37 7 27187114 27187114 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:27187114G>A ENST00000222728.3 - 1 279 c.255C>T c.(253-255)ctC>ctT p.L85L HOXA6_ENST00000521478.1_5'UTR|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000521231.1_RNA NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 85 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 AGGCGCCACTGAGGTCCTTAT 0.617000 6 38 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27169490 27169490 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:27169490C>T ENST00000380036.4 + 4 933 c.491C>T c.(490-492)tCa>tTa p.S164L TEK_ENST00000519097.1_Missense_Mutation_p.S60L|TEK_ENST00000406359.4_Missense_Mutation_p.S164L NM_000459.3 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 164 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.S164L(1) breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TTCATCCATTCAGTGCCCCGG 0.483000 34 228 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236839531 236839531 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:236839531G>C ENST00000304032.8 + 12 2027 c.1447G>C c.(1447-1449)Gag>Cag p.E483Q AGAP1_ENST00000409538.1_Intron|AGAP1_ENST00000336665.5_Intron|AGAP1_ENST00000428334.2_Missense_Mutation_p.E322Q NM_001037131.2 NP_001032208.1 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CCAGTGGAGTGAGGCTACGGT 0.622000 10 26 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965814 22965814 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:22965814G>A ENST00000374642.3 + 3 856 c.652G>A c.(652-654)Gaa>Aaa p.E218K C1QA_ENST00000402322.1_Missense_Mutation_p.E218K NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 218 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGTCTGGGTTGAAAAAGACCC 0.592000 18 22 0 0 1 0 0 GPAA1 8733 broad.mit.edu 37 8 145138314 145138314 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr8:145138314G>C ENST00000355091.4 + 3 398 c.277G>C c.(277-279)Gaa>Caa p.E93Q GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.E33Q NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 93 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGCCTGGCTTGAACGGACGAT 0.632000 11 46 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28419166 28419166 + Missense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:28419166G>T ENST00000394835.3 + 21 4407 c.4215G>T c.(4213-4215)aaG>aaT p.K1405N EFCAB5_ENST00000320856.5_Missense_Mutation_p.K1281N|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 1405 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GTTGGGATAAGTGTAAATTTG 0.338000 3 25 0.004672 0.00482518 1 1 0 ARSG 22901 broad.mit.edu 37 17 66381224 66381224 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:66381224G>C ENST00000448504.2 + 9 1798 c.1002G>C c.(1000-1002)caG>caC p.Q334H ARSG_ENST00000452479.2_Missense_Mutation_p.Q170H|ARSG_ENST00000582154.1_3'UTR NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 334 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGCCAAGCAGACGACCTGGG 0.557000 9 27 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33785224 33785224 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr18:33785224C>T ENST00000261326.5 + 6 1224 c.1203C>T c.(1201-1203)atC>atT p.I401I NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 401 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) AAGGGAACATCATTGGTTACT 0.473000 11 68 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116633293 116633293 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:116633293C>G ENST00000260210.4 - 4 1035 c.1012G>C c.(1012-1014)Gac>Cac p.D338H BUD13_ENST00000375445.3_Intron NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 338 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) TGCTTCTTGTCTCCAAAATGG 0.433000 7 86 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 45000485 45000485 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr20:45000485C>T ENST00000372176.1 - 17 1744 c.1276G>A c.(1276-1278)Gag>Aag p.E426K ELMO2_ENST00000445496.2_Missense_Mutation_p.E331K|ELMO2_ENST00000352077.2_Missense_Mutation_p.E512K|ELMO2_ENST00000454865.2_Missense_Mutation_p.E246K|ELMO2_ENST00000439931.2_Missense_Mutation_p.E526K|ELMO2_ENST00000396391.1_Missense_Mutation_p.E514K|ELMO2_ENST00000290246.6_Missense_Mutation_p.E514K Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 514 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) CTCATCCTCTCAGACTGGCGC 0.537000 15 53 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55846893 55846893 + Silent SNP A A T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr16:55846893A>T ENST00000422046.2 - 9 1286 c.1005T>A c.(1003-1005)ctT>ctA p.L335L CES1_ENST00000360526.3_Silent_p.L336L|CES1_ENST00000361503.4_Silent_p.L335L P23141 EST1_HUMAN carboxylesterase 1 335 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) TTTCAGCTTGAAGCTCTTCAG 0.512000 14 58 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41827041 41827041 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr15:41827041C>G ENST00000304330.4 - 6 750 c.634G>C c.(634-636)Ggg>Cgg p.G212R RPAP1_ENST00000561603.1_Missense_Mutation_p.G212R NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 212 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) AGCCCCTTCCCTGTGACCAGA 0.577000 10 36 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497010 1497010 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr8:1497010G>A ENST00000421627.2 + 2 285 c.151G>A c.(151-153)Ggg>Agg p.G51R NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 130 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CTGCCCCGGGGGGCGCCACCG 0.746000 3 3 0 0 1 0 0 TUBB2B 347733 broad.mit.edu 37 6 3227722 3227722 + Splice_Site SNP T T A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:3227722T>A ENST00000259818.7 - 1 247 c.56A>T c.(55-57)aAg>aTg p.K19M TUBB2B_ENST00000473006.1_Intron NM_178012.4 NP_821080.1 Q9BVA1 TBB2B_HUMAN tubulin, beta 2B class IIb 19 'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1) 10 Ovarian(93;0.0386) all_hematologic(90;0.108) CGCGCCCACCTTGGCGCCGAT 0.726000 6 40 0 0 1 0 0 ATG4D 84971 broad.mit.edu 37 19 10657877 10657877 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:10657877G>C ENST00000309469.4 + 5 956 c.783G>C c.(781-783)gaG>gaC p.E261D ATG4D_ENST00000540862.1_Intron NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 261 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) AAGCCGTGGAGAGCTGCTCCG 0.652000 3 13 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135099183 135099183 + Missense_Mutation SNP T T A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:135099183T>A ENST00000409645.1 + 8 1082 c.830T>A c.(829-831)cTg>cAg p.L277Q MGAT5_ENST00000281923.2_Missense_Mutation_p.L277Q Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 277 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) CTGGGACTCCTGACCAAGGAA 0.423000 8 70 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148059511 148059511 + Silent SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:148059511G>T ENST00000370460.2 + 17 3932 c.3453G>T c.(3451-3453)ggG>ggT p.G1151G AFF2_ENST00000370457.5_Silent_p.G1116G|AFF2_ENST00000286437.5_Silent_p.G792G|AFF2_ENST00000342251.3_Silent_p.G1118G NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1151 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CTTCGGATGGGGACAAAAAGC 0.418000 19 167 4.96729e-08 5.30406e-08 1 1 0 LRP1 4035 broad.mit.edu 37 12 57591393 57591393 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:57591393G>A ENST00000243077.3 + 58 9694 c.9228G>A c.(9226-9228)gtG>gtA p.V3076V NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3076 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGACAGATGTGACCACCCAGG 0.587000 9 50 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70065826 70065826 + RNA SNP T T C rs3169319 by1000genomes TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr16:70065826T>C ENST00000531894.1 - 0 796 NR_003610.1 p.M209V(4) GATCCAAACATAGTGTTACAG 0.453000 3 52 0 0 1 0 0 HSPA12A 259217 broad.mit.edu 37 10 118434610 118434610 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:118434610C>G ENST00000369209.3 - 12 1814 c.1710G>C c.(1708-1710)aaG>aaC p.K570N NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 570 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) CAGAGATGAACTTGTCAAAGA 0.597000 7 25 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27948977 27948977 + Missense_Mutation SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:27948977C>A ENST00000379992.2 - 6 2142 c.1693G>T c.(1693-1695)Gtg>Ttg p.V565L LINGO2_ENST00000308675.3_Missense_Mutation_p.V565L NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 565 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CGGCTCCACACAAAAAGGAGA 0.453000 9 61 0.0692343 0.0701248 1 1 0 SQLE 6713 broad.mit.edu 37 8 126015502 126015502 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr8:126015502G>C ENST00000265896.5 + 2 1274 c.376G>C c.(376-378)Gtt>Ctt p.V126L SQLE_ENST00000523430.1_Missense_Mutation_p.V31L NM_003129.3 NP_003120.2 Q14534 ERG1_HUMAN squalene epoxidase 126 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TGACCCAGAAGTTATCATCGT 0.433000 6 45 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6648426 6648426 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:6648426G>C ENST00000299441.3 - 14 6255 c.5844C>G c.(5842-5844)atC>atG p.I1948M NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1948 Cadherin 18. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGCGCACCGTGATGGTGACAG 0.612000 15 45 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120413948 120413948 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:120413948G>C ENST00000602047.1 + 25 2679 c.1567G>C c.(1567-1569)Gat>Cat p.D523H PCDP1_ENST00000413369.3_Missense_Mutation_p.D809H Q4G0U5 PCDP1_HUMAN 809 cilium calmodulin binding Colorectal(110;0.196) AGAAGTGAAAGATCAAGCACA 0.493000 5 19 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100064246 100064246 + Missense_Mutation SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:100064246A>G ENST00000524871.1 + 15 2025 c.1735A>G c.(1735-1737)Aaa>Gaa p.K579E CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.K505E|CNTN5_ENST00000527185.1_Missense_Mutation_p.K579E|CNTN5_ENST00000528682.1_Missense_Mutation_p.K579E|CNTN5_ENST00000279463.3_Missense_Mutation_p.K579E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 579 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACTTACTCCTAAAAGAACAGA 0.333000 3 14 0 0 1 0 0 GPS2 2874 broad.mit.edu 37 17 7221241 7221241 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:7221241G>A ENST00000575474.1 - 5 511 c.512C>T c.(511-513)tCa>tTa p.S171L NEURL4_ENST00000315614.7_Silent_p.F1355F|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Silent_p.F1333F|NEURL4_ENST00000399464.2_Silent_p.F1357F GCGGAGGCATGAAATAATCTT 0.612000 13 40 0 0 1 0 0 DNAAF3 352909 broad.mit.edu 37 19 55672736 55672736 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:55672736G>A ENST00000527223.2 - 7 919 c.918C>T c.(916-918)gtC>gtT p.V306V CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Silent_p.V184V|DNAAF3_ENST00000391720.4_Silent_p.V285V|DNAAF3_ENST00000524407.2_Silent_p.V238V NM_001256714.1 NP_001243643 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 238 GTTCAAAGGCGACGCCTGTGT 0.662000 5 10 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156639892 156639892 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:156639892G>C ENST00000368223.3 - 4 4220 c.4088C>G c.(4087-4089)tCt>tGt p.S1363C NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1363 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGACAGGTCAGAGTCACGGCC 0.632000 3 68 0 0 1 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238680748 238680748 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:238680748G>A ENST00000308482.9 + 21 1603 c.1534G>A c.(1534-1536)Gag>Aag p.E512K LRRFIP1_ENST00000468950.1_3'UTR NM_001137550.1 NP_001131022.1 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 563 DNA-binding. negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) AGGGCAGCTGGAGGAGAGACA 0.418000 10 17 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77193698 77193698 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr18:77193698G>A ENST00000253506.5 + 3 1715 c.1346G>A c.(1345-1347)gGg>gAg p.G449E NFATC1_ENST00000329101.4_Missense_Mutation_p.G436E|NFATC1_ENST00000427363.2_Missense_Mutation_p.G449E|NFATC1_ENST00000542384.1_Missense_Mutation_p.G449E|NFATC1_ENST00000318065.5_Missense_Mutation_p.G436E|NFATC1_ENST00000592223.1_Missense_Mutation_p.G436E|NFATC1_ENST00000587635.1_Missense_Mutation_p.G449E|NFATC1_ENST00000591814.1_Missense_Mutation_p.G449E|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000586434.1_Missense_Mutation_p.G436E NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 449 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GGCAGCCGGGGGGCCGTGAAG 0.632000 15 42 0 0 1 0 0 CCT7 10574 broad.mit.edu 37 2 73476281 73476281 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:73476281G>C ENST00000539919.1 + 9 1185 c.814G>C c.(814-816)Gag>Cag p.E272Q CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.E229Q|CCT7_ENST00000538797.1_Missense_Mutation_p.E188Q|CCT7_ENST00000537131.1_Missense_Mutation_p.E216Q|CCT7_ENST00000398422.2_Missense_Mutation_p.E112Q|CCT7_ENST00000258091.5_Missense_Mutation_p.E316Q NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 316 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 CCGAGTACCTGAGGAGGATCT 0.517000 4 44 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39226079 39226079 + Nonsense_Mutation SNP C C A rs150567366 byFrequency TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:39226079C>A ENST00000340369.3 - 2 5086 c.4858G>T c.(4858-4860)Gag>Tag p.E1620* XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Nonsense_Mutation_p.E303* NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1620 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CTCTGGGCCTCAGTGTGGCAT 0.562000 31 91 5.77227e-19 6.44775e-19 1 1 0 NCKIPSD 51517 broad.mit.edu 37 3 48716386 48716386 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:48716386G>A ENST00000294129.2 - 11 1835 c.1716C>T c.(1714-1716)gtC>gtT p.V572V NCKIPSD_ENST00000341520.4_Silent_p.V572V|NCKIPSD_ENST00000416649.2_Silent_p.V565V NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 572 Leu-rich. cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CAGCCATGATGACATTCTGGT 0.597000 5 102 0 0 1 0 0 HLF 3131 broad.mit.edu 37 17 53392723 53392723 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:53392723G>A ENST00000226067.5 + 3 1060 c.587G>A c.(586-588)cGc>cAc p.R196H HLF_ENST00000575345.1_Missense_Mutation_p.R111H|HLF_ENST00000430986.2_Missense_Mutation_p.R111H|HLF_ENST00000573945.1_Missense_Mutation_p.R111H NM_002126.4 NP_002117.1 Q16534 HLF_HUMAN hepatic leukemia factor 196 Pro-rich (proline/acidic region (PAR)). multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R196H(1) large_intestine(1)|ovary(2) 3 TTTGACCCTCGCAAACGCAAG 0.517000 T TCF3 ALL 10 41 0 0 1 0 0 ZFP30 22835 broad.mit.edu 37 19 38127148 38127148 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:38127148C>G ENST00000351218.2 - 6 851 c.294G>C c.(292-294)atG>atC p.M98I ZFP30_ENST00000392144.1_Missense_Mutation_p.M98I|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.M98I NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGATAAGTTCATTTCATAAA 0.343000 16 80 0 0 1 0 0 CKS1B 1163 broad.mit.edu 37 1 154947386 154947386 + Silent SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:154947386G>C ENST00000368439.1 + 1 258 c.9G>C c.(7-9)acG>acC p.T3T CKS1B_ENST00000368436.1_Intron|CKS1B_ENST00000308987.5_Intron P61024 CKS1_HUMAN CDC28 protein kinase regulatory subunit 1B 0 cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle nucleoplasm cyclin-dependent protein kinase regulator activity|protein binding breast(1)|large_intestine(1)|lung(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCATGCGTACGAGGTGCGAAC 0.567000 12 79 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68139440 68139440 + Missense_Mutation SNP T T C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr8:68139440T>C ENST00000262215.3 - 27 4237 c.3848A>G c.(3847-3849)cAt>cGt p.H1283R ARFGEF1_ENST00000518230.1_Missense_Mutation_p.H121R|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.H737R NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1283 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TGCAGCTAGATGAAATACAGA 0.398000 56 54 0 0 1 0 0 HIST1H2BL 8340 broad.mit.edu 37 6 27775463 27775463 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:27775463G>C ENST00000377401.2 - 1 246 c.222C>G c.(220-222)atC>atG p.I74M NM_003519.3 NP_003510.1 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 74 nucleosome assembly nucleosome|nucleus DNA binding p.I74I(1) cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 CCTCGCTTGCGATGCGCTCGA 0.612000 43 114 0 0 1 0 0 MEGF9 1955 broad.mit.edu 37 9 123384995 123384995 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:123384995G>C ENST00000373930.3 - 3 953 c.842C>G c.(841-843)tCt>tGt p.S281C MEGF9_ENST00000426959.1_Missense_Mutation_p.S318C NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 281 Laminin EGF-like 2. integral to membrane calcium ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 GTCACATATAGAGCCAATGAC 0.408000 4 46 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8562693 8562693 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:8562693C>T ENST00000423345.4 - 4 2051 c.1531G>A c.(1531-1533)Gat>Aat p.D511N PRAM1_ENST00000255612.3_Missense_Mutation_p.D510N Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 559 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GGTTCCACATCGTCATACAGC 0.498000 7 40 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79033772 79033772 + Missense_Mutation SNP A A T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:79033772A>T ENST00000446378.2 + 2 9215 c.9184A>T c.(9184-9186)Aac>Tac p.N3062Y NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3062 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GATTGATTATAACATCTCCCC 0.343000 6 49 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72021644 72021644 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:72021644G>A ENST00000378743.3 - 21 4375 c.4017C>T c.(4015-4017)taC>taT p.Y1339Y NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1339 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CATTTGTAAAGTATCTGACAT 0.368000 9 33 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64675047 64675047 + Nonsense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:64675047G>T ENST00000421419.2 - 18 2711 c.2597C>A c.(2596-2598)tCa>tAa p.S866* ATG2A_ENST00000377264.3_Nonsense_Mutation_p.S866* Q2TAZ0 ATG2A_HUMAN autophagy related 2A 866 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CCAGAAGCCTGAGGGGCCGGG 0.627000 4 4 0.150653 0.152102 1 1 0 PROX1 5629 broad.mit.edu 37 1 214170364 214170364 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:214170364G>A ENST00000366958.4 + 2 1094 c.486G>A c.(484-486)ctG>ctA p.L162L PROX1_ENST00000261454.4_Silent_p.L162L|PROX1_ENST00000498508.2_Silent_p.L162L|PROX1_ENST00000435016.1_Silent_p.L162L NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 162 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) ATGAGCACCTGAGAGCAAAGC 0.522000 11 56 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36122831 36122831 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr22:36122831G>A ENST00000249044.2 + 3 716 c.716G>A c.(715-717)gGc>gAc p.G239D NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 239 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 GCTATCCAGGGCATCAAGGAT 0.468000 4 148 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119673229 119673229 + Splice_Site SNP T T G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:119673229T>G ENST00000371322.5 - 12 1698 c.e12-2 CUL4B_ENST00000404115.3_Splice_Site|CUL4B_ENST00000336592.6_Splice_Site NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CATACTTAGCTAAAATGGGGG 0.343000 6 32 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218959 130218959 + Silent SNP A A C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:130218959A>C ENST00000276211.5 + 7 1221 c.876A>C c.(874-876)gcA>gcC p.A292A ARHGAP36_ENST00000370922.1_Silent_p.A280A|ARHGAP36_ENST00000370921.1_Silent_p.A156A NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 292 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 ATGTGGCTGCACTCCTCAAGG 0.473000 23 134 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43618481 43618481 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:43618481G>C ENST00000292246.3 - 6 1035 c.865C>G c.(865-867)Cat>Gat p.H289D ANO10_ENST00000414522.2_Missense_Mutation_p.H289D|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000451430.2_Missense_Mutation_p.H178D|ANO10_ENST00000396091.3_Missense_Mutation_p.H223D NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 289 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 AAGACACCATGAAATCCTGGC 0.537000 6 68 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49084658 49084658 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:49084658C>T ENST00000395443.2 - 4 1832 c.1360G>A c.(1360-1362)Gaa>Aaa p.E454K QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.E454K|QRICH1_ENST00000357496.2_Missense_Mutation_p.E454K NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 454 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GGTTCAACTTCAGCAACCTGG 0.413000 10 77 0 0 1 0 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833314 27833314 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:27833314C>T ENST00000357320.2 + 1 281 c.182C>T c.(181-183)gCc>gTc p.A61V NM_003511.2 NP_003502.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 61 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2) 9 TACCTGACTGCCGAGATCCTG 0.687000 11 95 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158326666 158326666 + Missense_Mutation SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:158326666C>A ENST00000444681.2 + 5 1143 c.850C>A c.(850-852)Cgc>Agc p.R284S CD1E_ENST00000368155.3_Missense_Mutation_p.R226S|CD1E_ENST00000368154.1_Missense_Mutation_p.R139S|CD1E_ENST00000368165.3_Missense_Mutation_p.R293S|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368163.3_Missense_Mutation_p.R316S|CD1E_ENST00000368160.3_Missense_Mutation_p.R371S|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368167.3_Missense_Mutation_p.R383S|CD1E_ENST00000368166.3_Missense_Mutation_p.R182S|CD1E_ENST00000368157.1_Missense_Mutation_p.R127S|CD1E_ENST00000368156.1_Missense_Mutation_p.R281S|CD1E_ENST00000452291.2_Missense_Mutation_p.R194S NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 383 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen p.R383C(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GTGGAAGACACGCCTAAACCA 0.428000 4 45 0.014758 0.0150934 1 1 0 PARP14 54625 broad.mit.edu 37 3 122419063 122419063 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:122419063C>T ENST00000474629.2 + 6 1928 c.1662C>T c.(1660-1662)ttC>ttT p.F554F NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GGAAAGAATTCTCTAAGTGTC 0.398000 3 19 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107978024 107978024 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:107978024C>T ENST00000372129.2 - 1 1627 c.1551G>A c.(1549-1551)tcG>tcA p.S517S NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 517 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GGTTTCCTCCCGAGCTATGGC 0.597000 19 99 0 0 1 0 0 ZNF248 57209 broad.mit.edu 37 10 38120937 38120937 + Nonsense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:38120937G>C ENST00000395867.3 - 6 1896 c.1346C>G c.(1345-1347)tCa>tGa p.S449* ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Nonsense_Mutation_p.S449* NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 AGTGAGGTTTGACTTCACACA 0.458000 18 119 0 0 1 0 0 NLGN2 57555 broad.mit.edu 37 17 7318929 7318929 + Silent SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:7318929C>G ENST00000302926.2 + 6 1210 c.1137C>G c.(1135-1137)ctC>ctG p.L379L NLGN2_ENST00000575301.1_Silent_p.L379L NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 379 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) ACGACATGCTCATCGGCGTCA 0.592000 5 55 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150445215 150445215 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:150445215G>C ENST00000401000.4 + 10 3778 c.3713G>C c.(3712-3714)gGa>gCa p.G1238A RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.G1264A Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1264 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GAGCACAGTGGAATTCCTTTC 0.617000 6 44 0 0 1 0 0 MSS51 118490 broad.mit.edu 37 10 75185861 75185861 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:75185861C>T ENST00000299432.2 - 5 842 c.777G>A c.(775-777)agG>agA p.R259R MSS51_ENST00000372912.1_Silent_p.R259R NM_001024593.1 NP_001019764.1 Q4VC12 ZMY17_HUMAN MSS51 mitochondrial translational activator 259 zinc ion binding TTCCCCCAGTCCTCCTAACAT 0.542000 5 37 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60781470 60781470 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:60781470C>T ENST00000313421.7 + 8 1557 c.1371C>T c.(1369-1371)atC>atT p.I457I CD6_ENST00000545105.1_3'UTR|CD6_ENST00000352009.5_Intron|CD6_ENST00000452451.2_Silent_p.I457I|CD6_ENST00000346437.4_Intron|CD6_ENST00000344028.5_Intron NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 457 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 CGGTCCCCATCACCATCCCCA 0.597000 4 21 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49249238 49249238 + Nonsense_Mutation SNP A A T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:49249238A>T ENST00000438782.1 + 2 261 c.25A>T c.(25-27)Aaa>Taa p.K9* CCDC36_ENST00000366429.2_Nonsense_Mutation_p.K9*|CCDC36_ENST00000296449.5_Nonsense_Mutation_p.K9*|CCDC36_ENST00000452691.2_Nonsense_Mutation_p.K9*|CCDC36_ENST00000493870.1_Intron Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 9 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CTGGAATATCAAAGAGATGCT 0.343000 15 109 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59620470 59620470 + Missense_Mutation SNP T T C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:59620470T>C ENST00000257264.3 - 9 1384 c.1280A>G c.(1279-1281)gAg>gGg p.E427G NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 427 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCAGCGAACCTCCAAGTTTTC 0.408000 33 150 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135311030 135311030 + Missense_Mutation SNP G G C rs148213320 TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:135311030G>C ENST00000285968.6 + 33 4740 c.4714G>C c.(4714-4716)Gag>Cag p.E1572Q NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1572 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GGGTGCATTAGAGCTGCTAAG 0.468000 13 90 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935582 151935582 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:151935582G>A ENST00000393902.3 - 3 1152 c.585C>T c.(583-585)atC>atT p.I195I MAGEA3_ENST00000370278.3_Silent_p.I195I P43357 MAGA3_HUMAN melanoma antigen family A, 3 195 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CCTTGGGCATGATCTGATTGT 0.567000 19 164 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34091550 34091550 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:34091550C>G ENST00000297161.2 + 9 1128 c.754C>G c.(754-756)Ctg>Gtg p.L252V BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Missense_Mutation_p.L252V NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 252 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ATCCTCATTTCTGTACGATAA 0.473000 11 50 0 0 1 0 0 TBL1X 6907 broad.mit.edu 37 X 9684283 9684283 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:9684283G>A ENST00000217964.7 + 18 2371 c.1731G>A c.(1729-1731)aaG>aaA p.K577K TBL1X_ENST00000536365.1_Silent_p.K526K|TBL1X_ENST00000407597.2_Silent_p.K577K|TBL1X_ENST00000424279.1_Silent_p.K526K|TBL1X_ENST00000380961.1_Silent_p.K526K NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 577 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) ATCTGCGGAAGTAACCACAAA 0.403000 5 18 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 50 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25399840 25399840 + Silent SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:25399840C>G ENST00000255324.5 + 16 2227 c.2175C>G c.(2173-2175)ctC>ctG p.L725L RNF17_ENST00000381921.1_Silent_p.L725L NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 725 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TGGAAATCCTCTGTCCAGTTC 0.373000 14 69 0 0 1 0 0 MAPRE2 10982 broad.mit.edu 37 18 32650241 32650241 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr18:32650241G>A ENST00000436190.2 + 3 443 c.169G>A c.(169-171)Gac>Aac p.D57N MAPRE2_ENST00000413393.1_Missense_Mutation_p.D26N|MAPRE2_ENST00000589699.1_Missense_Mutation_p.D26N|MAPRE2_ENST00000588910.1_Missense_Mutation_p.D69N|MAPRE2_ENST00000538170.2_Intron|MAPRE2_ENST00000300249.5_Missense_Mutation_p.D69N NM_001143827.2 NP_001137299.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 69 CH. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 ATGGGTTAATGACATAGTATC 0.358000 6 68 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90895324 90895324 + Missense_Mutation SNP G G A rs143614174 TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:90895324G>A ENST00000287934.2 + 1 1542 c.1129G>A c.(1129-1131)Gac>Aac p.D377N NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 377 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CCTCCTGGAAGACCGAGTGGT 0.622000 7 70 0 0 1 0 0 MGEA5 10724 broad.mit.edu 37 10 103551118 103551118 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:103551118C>G ENST00000361464.3 - 13 2649 c.2254G>C c.(2254-2256)Gga>Cga p.G752R MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.G685R|MGEA5_ENST00000439817.1_Missense_Mutation_p.G699R NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 752 Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TACTTGTCTCCAATAAGATCA 0.373000 6 41 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603088 140603088 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:140603088G>A ENST00000239449.4 + 1 11 c.11G>A c.(10-12)aGa>aAa p.R4K PCDHB14_ENST00000515856.2_5'UTR NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 4 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGGAGATCAGAGGGGCACTC 0.468000 17 49 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140128 50140128 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr20:50140128G>C ENST00000371564.3 - 2 871 c.652C>G c.(652-654)Cca>Gca p.P218A NFATC2_ENST00000396009.3_Missense_Mutation_p.P218A|NFATC2_ENST00000609507.1_5'UTR|NFATC2_ENST00000414705.1_Missense_Mutation_p.P198A|NFATC2_ENST00000610033.1_5'UTR|NFATC2_ENST00000609943.1_Missense_Mutation_p.P198A NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 218 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GACATTATTGGCGAGGTTCTG 0.652000 4 85 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122820835 122820835 + Missense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr4:122820835G>T ENST00000264811.5 - 9 2678 c.2260C>A c.(2260-2262)Cag>Aag p.Q754K TRPC3_ENST00000379645.3_Missense_Mutation_p.Q827K|TRPC3_ENST00000513531.1_Missense_Mutation_p.Q699K NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 742 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GAGTTAGACTGAGTGAAGAGG 0.308000 12 57 7.03913e-09 7.64595e-09 1 1 0 FBN2 2201 broad.mit.edu 37 5 127627252 127627252 + Silent SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:127627252A>G ENST00000508053.1 - 55 7235 c.6261T>C c.(6259-6261)ttT>ttC p.F2087F FBN2_ENST00000262464.4_Silent_p.F2087F P35556 FBN2_HUMAN fibrillin 2 2087 EGF-like 35; calcium-binding. 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) CAGATAGTACAAAGCCAGGGG 0.428000 13 57 0 0 1 0 0 FBXW8 26259 broad.mit.edu 37 12 117365827 117365827 + Splice_Site SNP G G A rs141082626 TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:117365827G>A ENST00000455858.2 + 2 193 c.e2-1 FBXW8_ENST00000309909.5_Splice_Site NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) TTTCCCCTCAGAATGAAATGA 0.323000 6 41 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129155869 129155869 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:129155869G>C ENST00000429544.2 - 3 813 c.618C>G c.(616-618)aaC>aaG p.N206K MBD4_ENST00000503197.1_Missense_Mutation_p.N206K|MBD4_ENST00000507208.1_Missense_Mutation_p.N206K|MBD4_ENST00000249910.1_Missense_Mutation_p.N206K|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 206 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 TGGAAGTAAAGTTAGAGAGTC 0.418000 Base excision repair (BER), DNA glycosylases 14 113 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134683629 134683629 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:134683629C>G ENST00000370752.4 + 7 1139 c.805C>G c.(805-807)Cat>Gat p.H269D DDX26B_ENST00000481908.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 269 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) GCATAGTTGTCATAAACTCAT 0.393000 43 281 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123152000 123152000 + Missense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:123152000G>T ENST00000466202.1 - 2 971 c.395C>A c.(394-396)aCa>aAa p.T132K IQUB_ENST00000324698.6_Missense_Mutation_p.T132K|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.T132K NM_001282855.1 NP_001269784.1 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 132 Ubiquitin-like. breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 GGTAGTACCTGTTGCTAGAGA 0.328000 5 50 0.0215528 0.0219004 1 1 0 OR2A14 135941 broad.mit.edu 37 7 143826316 143826316 + Silent SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:143826316C>A ENST00000408899.2 + 1 166 c.111C>A c.(109-111)acC>acA p.T37T NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) ATACACTCACCCTGCTGGGGA 0.498000 9 80 0.000442599 0.000461652 1 1 0 GTF3C4 9329 broad.mit.edu 37 9 135554247 135554247 + Missense_Mutation SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:135554247A>G ENST00000372146.4 + 2 1805 c.1241A>G c.(1240-1242)cAc>cGc p.H414R GTF3C4_ENST00000483873.2_Intron NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 414 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) CTGAATGTTCACAATTCCCAT 0.463000 20 71 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83838959 83838959 + Silent SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:83838959C>G ENST00000349129.2 + 16 2333 c.2073C>G c.(2071-2073)ctC>ctG p.L691L DOPEY1_ENST00000369739.3_Silent_p.L682L|DOPEY1_ENST00000237163.5_Silent_p.L672L NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 691 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTATCAACCTCTACATCATTC 0.443000 12 61 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41205790 41205790 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:41205790G>A ENST00000399959.2 + 14 2385 c.1530G>A c.(1528-1530)gtG>gtA p.V510V DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Silent_p.V494V|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 510 Helicase C-terminal.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 TTTCAAATGTGAAACATGTTA 0.353000 HNSCC(61;0.18) 7 111 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90461176 90461176 + Silent SNP T T C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:90461176T>C ENST00000369393.3 - 23 3316 c.3201A>G c.(3199-3201)agA>agG p.R1067R MDN1_ENST00000428876.1_Silent_p.R1067R Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1067 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGACTATATCTCTCAGGTTCA 0.483000 7 35 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150463906 150463906 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:150463906G>A ENST00000438568.2 + 4 464 c.424G>A c.(424-426)Gat>Aat p.D142N TARS2_ENST00000606933.1_Silent_p.R183R|TARS2_ENST00000369054.2_Silent_p.R183R|TARS2_ENST00000369064.3_Silent_p.R183R Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 644 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TTTTGGAGCGGATTTGCCAGG 0.562000 10 55 0 0 1 0 0 FECH 2235 broad.mit.edu 37 18 55247287 55247287 + Splice_Site SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr18:55247287C>G ENST00000382873.3 - 2 245 c.212G>C c.(211-213)aGg>aCg p.R71T FECH_ENST00000262093.5_Intron|FECH_ENST00000585699.1_Intron P22830 HEMH_HUMAN ferrochelatase 65 I -> K (in EPP; enzyme totally inactive). generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) TTATTTGTACCTGATGTTAGA 0.498000 7 110 0 0 1 0 0 ANXA1 301 broad.mit.edu 37 9 75773638 75773638 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:75773638C>G ENST00000376911.1 + 2 976 c.94C>G c.(94-96)Ccc>Gcc p.P32A ANXA1_ENST00000257497.6_Missense_Mutation_p.P32A P04083 ANXA1_HUMAN annexin A1 32 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) CAAAGGTGGTCCCGGATCAGC 0.393000 7 38 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57484229 57484229 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr20:57484229G>C ENST00000371100.4 + 7 3024 c.2472G>C c.(2470-2472)aaG>aaC p.K824N GNAS_ENST00000371095.3_Missense_Mutation_p.K167N|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.K166N|GNAS_ENST00000306090.10_Missense_Mutation_p.K167N|GNAS_ENST00000354359.7_Missense_Mutation_p.K182N|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.K181N|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.K810N NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 181 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TCCTGGACAAGATCGACGTGA 0.512000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 32 231 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184290795 184290795 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:184290795G>A ENST00000330394.2 + 3 1139 c.687G>A c.(685-687)gcG>gcA p.A229A EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 229 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TCACTGGGGCGGAGCCCACCT 0.637000 9 41 0 0 1 0 0 STOML2 30968 broad.mit.edu 37 9 35102696 35102696 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:35102696C>T ENST00000356493.5 - 2 232 c.170G>A c.(169-171)cGg>cAg p.R57Q STOML2_ENST00000452248.2_Missense_Mutation_p.R57Q NM_013442.1 NP_038470.1 Q9UJZ1 STML2_HUMAN stomatin (EPB72)-like 2 57 cytoskeleton receptor binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 16 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTCCAGGATCCGGTGGAATCG 0.637000 32 87 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130863464 130863464 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:130863464G>A ENST00000373066.5 + 2 716 c.309G>A c.(307-309)ctG>ctA p.L103L SLC25A25_ENST00000373069.5_Silent_p.L117L|SLC25A25_ENST00000373068.2_Silent_p.L117L|SLC25A25_ENST00000373064.5_Silent_p.L83L|SLC25A25_ENST00000432073.2_Silent_p.L103L|SLC25A25_ENST00000433501.1_5'UTR NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 83 EF-hand 2. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 AGAAGAAGCTGAGGCTGGTGT 0.478000 11 47 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240072524 240072524 + Nonstop_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:240072524G>C ENST00000255380.4 + 5 2552 c.1773G>C c.(1771-1773)taG>taC p.*591Y NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 0 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AGGCCTTGTAGAATGAGGTTG 0.512000 6 32 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67592071 67592071 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:67592071C>T ENST00000521381.1 + 15 2503 c.1887C>T c.(1885-1887)agC>agT p.S629S PIK3R1_ENST00000320694.8_Silent_p.S329S|PIK3R1_ENST00000274335.5_Silent_p.S629S|PIK3R1_ENST00000336483.5_Silent_p.S359S|PIK3R1_ENST00000521657.1_Silent_p.S629S|PIK3R1_ENST00000396611.1_Silent_p.S637S|PIK3R1_ENST00000523872.1_Silent_p.S266S NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 629 SH2 2. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TTGGAAGCAGCAACCGAAACA 0.478000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 15 88 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671503 39671503 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr21:39671503G>A ENST00000328656.4 + 4 623 c.320G>A c.(319-321)tGc>tAc p.C107Y KCNJ15_ENST00000398938.2_Missense_Mutation_p.C107Y|KCNJ15_ENST00000398934.1_Missense_Mutation_p.C107Y|KCNJ15_ENST00000398930.1_Missense_Mutation_p.C107Y|KCNJ15_ENST00000398932.1_Missense_Mutation_p.C107Y NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3 NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CATACCCCCTGCATCATGAAA 0.483000 29 74 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56388554 56388554 + Silent SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:56388554G>C ENST00000355701.3 - 19 3972 c.3102C>G c.(3100-3102)ccC>ccG p.P1034P BZRAP1_ENST00000268893.6_Silent_p.P974P|BZRAP1_ENST00000343736.4_Silent_p.P1034P NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1034 Fibronectin type-III 3. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGCCTGCCGTGGGTGAGGCCA 0.652000 3 12 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212190365 212190365 + Splice_Site SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:212190365C>T ENST00000366994.3 - 4 476 c.372G>A c.(370-372)cgG>cgA p.R124R INTS7_ENST00000366993.3_Splice_Site_p.R124R|INTS7_ENST00000440600.2_Splice_Site_p.G75G|INTS7_ENST00000366992.3_Splice_Site_p.R124R|INTS7_ENST00000469606.1_5'UTR NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 124 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TTCCCAACATCCTACAGAAAC 0.373000 17 65 0 0 1 0 0 CCSER2 54462 broad.mit.edu 37 10 86133500 86133500 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:86133500G>A ENST00000224756.8 + 3 1728 c.1543G>A c.(1543-1545)Gaa>Aaa p.E515K CCSER2_ENST00000359979.4_Missense_Mutation_p.E515K|CCSER2_ENST00000372088.2_Missense_Mutation_p.E515K NM_001284243.1|NM_018999.2 NP_001271172.1|NP_061872.2 coiled-coil serine-rich protein 2 CATGTGGGATGAAGAAGGCTT 0.413000 9 57 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 367734 367734 + Missense_Mutation SNP A A T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:367734A>T ENST00000256509.2 + 4 826 c.184A>T c.(184-186)Aat>Tat p.N62Y CHL1_ENST00000397491.2_Missense_Mutation_p.N62Y NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 62 Ig-like C2-type 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AGCTAAAGGAAATCCAGAACC 0.373000 4 29 0 0 1 0 0 CKMT2 1160 broad.mit.edu 37 5 80561989 80561989 + Missense_Mutation SNP T T G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:80561989T>G ENST00000424301.2 + 11 1410 c.1172T>G c.(1171-1173)gTc>gGc p.V391G CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.V391G|CKMT2_ENST00000437669.1_Missense_Mutation_p.V391G|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 391 Phosphagen kinase C-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) ATCGATGGAGTCAATTACCTG 0.418000 17 130 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 711201 711201 + Silent SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:711201A>G ENST00000382303.1 + 7 1087 c.435A>G c.(433-435)ccA>ccG p.P145P KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_5'UTR|KANK1_ENST00000382297.2_Silent_p.P145P NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 145 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CTCCCTCACCACAACTCCCAA 0.522000 21 50 0 0 1 0 0 TRAV6 6956 broad.mit.edu 37 14 22237159 22237159 + RNA SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr14:22237159C>A ENST00000390428.3 + 0 243 CGACAAGATCCAGGAAGAGGC 0.448000 10 36 2.74318e-10 3.01081e-10 1 1 0 CTTN 2017 broad.mit.edu 37 11 70266505 70266505 + Splice_Site SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:70266505G>C ENST00000301843.8 + 10 885 c.e10-1 CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000346329.3_Splice_Site NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TGTGCATGTAGACTATGTGAA 0.438000 4 29 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156831287 156831287 + Missense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr4:156831287G>T ENST00000536354.2 + 6 606 c.542G>T c.(541-543)cGt>cTt p.R181L NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 181 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) AGACATTATCGTGATAACTTC 0.368000 8 71 2.17888e-05 2.28782e-05 1 1 0 ARRDC4 91947 broad.mit.edu 37 15 98513969 98513969 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr15:98513969C>T ENST00000268042.6 + 7 1360 c.1196C>T c.(1195-1197)tCa>tTa p.S399L ARRDC4_ENST00000538249.1_Missense_Mutation_p.S312L NM_183376.2 NP_899232.2 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 399 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) CCTCTTTATTCAGAGGTAAGC 0.393000 9 77 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84925077 84925077 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:84925077C>G ENST00000403245.3 - 5 540 c.426G>C c.(424-426)ttG>ttC p.L142F KIAA1009_ENST00000257766.4_Missense_Mutation_p.L66F NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 142 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TGGAAGATGTCAAGCCTTTCT 0.353000 5 15 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135102577 135102577 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:135102577G>A ENST00000409645.1 + 9 1306 c.1054G>A c.(1054-1056)Gat>Aat p.D352N MGAT5_ENST00000281923.2_Missense_Mutation_p.D352N Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 352 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) CATTTACATTGATATTGTAGG 0.423000 18 149 0 0 1 0 0 MASTL 84930 broad.mit.edu 37 10 27459801 27459801 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:27459801C>T ENST00000375946.4 + 8 2516 c.1913C>T c.(1912-1914)cCt>cTt p.P638L MASTL_ENST00000375940.4_Missense_Mutation_p.P638L|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.P638L NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 638 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATGTTAGGTCCTCCTTTGGAG 0.403000 12 55 0 0 1 0 0 IFNE 338376 broad.mit.edu 37 9 21481244 21481244 + Missense_Mutation SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:21481244C>A ENST00000448696.3 - 1 1068 c.450G>T c.(448-450)agG>agT p.R150S MIR31HG_ENST00000304425.3_RNA NM_176891.4 NP_795372.1 Q86WN2 IFNE_HUMAN interferon, epsilon 150 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 AATCATGGATCCTTCGGAAGT 0.443000 24 177 1.64293e-13 1.82227e-13 1 1 0 GPRC5D 55507 broad.mit.edu 37 12 13103184 13103184 + Silent SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:13103184G>C ENST00000228887.1 - 1 134 c.135C>G c.(133-135)ctC>ctG p.L45L RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.L45L|RP11-392P7.6_ENST00000536029.1_RNA NM_018654.1 NP_061124.1 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, member D 45 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GCATGAGGAAGAGAAATGCTA 0.542000 9 49 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150749714 150749714 + Missense_Mutation SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:150749714C>A ENST00000357922.4 + 10 2106 c.1512C>A c.(1510-1512)caC>caA p.H504Q ASIC3_ENST00000349064.5_Missense_Mutation_p.T524N|ASIC3_ENST00000297512.8_Missense_Mutation_p.P531T NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 500 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity TCCCACCGCACCTGCTACCTT 0.622000 16 61 1.5739e-10 1.73957e-10 1 1 0 GUCY2C 2984 broad.mit.edu 37 12 14766207 14766207 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:14766207C>G ENST00000261170.3 - 27 3202 c.3066G>C c.(3064-3066)ttG>ttC p.L1022F RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 1022 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ATTCTGCTTGCAAACGCTGTT 0.413000 30 155 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66430871 66430871 + Missense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:66430871G>T ENST00000383703.3 - 20 3632 c.3029C>A c.(3028-3030)tCc>tAc p.S1010Y LRIG1_ENST00000273261.3_Missense_Mutation_p.S1033Y|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 1033 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TAGCTCTGTGGAGTCCGGGTG 0.527000 15 139 3.27435e-08 3.52021e-08 1 1 0 OPTN 10133 broad.mit.edu 37 10 13151272 13151272 + Missense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:13151272G>T ENST00000378748.3 + 4 512 c.150G>T c.(148-150)gaG>gaT p.E50D OPTN_ENST00000378747.3_Missense_Mutation_p.E50D|OPTN_ENST00000378752.3_Missense_Mutation_p.E50D|OPTN_ENST00000378757.2_Missense_Mutation_p.E50D|OPTN_ENST00000263036.5_Missense_Mutation_p.E50D|OPTN_ENST00000378764.2_Missense_Mutation_p.E50D|OPTN_ENST00000482140.1_3'UTR NM_001008211.1|NM_001008213.1 NP_001008212|NP_001008214 Q96CV9 OPTN_HUMAN optineurin 50 E -> K (in GLC1E; dbSNP:rs28939688). cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 TCCTGACCGAGAACCACCAGC 0.592000 6 34 3.59834e-05 3.7657e-05 1 1 0 CLVS2 134829 broad.mit.edu 37 6 123319254 123319254 + Missense_Mutation SNP T T C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:123319254T>C ENST00000275162.5 + 2 1667 c.332T>C c.(331-333)cTg>cCg p.L111P CLVS2_ENST00000368438.1_Intron NM_001010852.3 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 CTGGCCAATCTGGACCACTAT 0.502000 10 58 0 0 1 0 0 BZW1 9689 broad.mit.edu 37 2 201677975 201677975 + Nonsense_Mutation SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:201677975C>A ENST00000409600.1 + 2 490 c.35C>A c.(34-36)tCa>tAa p.S12* BZW1_ENST00000452790.2_Nonsense_Mutation_p.S44*|BZW1_ENST00000409226.1_Nonsense_Mutation_p.S16* NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 CCAACGCTATCAGGCCAGCGT 0.353000 12 40 5.50884e-06 5.80362e-06 1 1 0 ERCC6L2 375748 broad.mit.edu 37 9 98774955 98774955 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:98774955G>A ENST00000407474.3 + 4 1579 c.1066G>A c.(1066-1068)Gca>Aca p.A356T Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 0 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding AAACAGCCAGGCATCCGAAGA 0.408000 6 31 0 0 1 0 0 KIF5B 3799 broad.mit.edu 37 10 32306218 32306218 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:32306218C>T ENST00000302418.4 - 24 3071 c.2614G>A c.(2614-2616)Gag>Aag p.E872K KIF5B_ENST00000493889.1_5'UTR NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 872 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) TTCACTCTCTCAGCTGTAGCT 0.428000 T """RET, ALK""" NSCLC 14 73 0 0 1 0 0 PGM5P2 595135 broad.mit.edu 37 9 69112895 69112895 + RNA SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:69112895G>C ENST00000591037.1 - 0 1156 NR_002836.2 ACCCCCATCTGATGGAAATAT 0.512000 17 54 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95562454 95562454 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr14:95562454C>G ENST00000526495.1 - 25 5094 c.4803G>C c.(4801-4803)aaG>aaC p.K1601N DICER1_ENST00000343455.3_Missense_Mutation_p.K1601N|DICER1_ENST00000393063.1_Missense_Mutation_p.K1601N|DICER1_ENST00000541352.1_Missense_Mutation_p.K1601N|DICER1_ENST00000556045.1_Missense_Mutation_p.K499N|DICER1_ENST00000527414.1_Missense_Mutation_p.K1601N Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1601 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GGCACAGGGCCTTTTCCCGAT 0.517000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 56 137 0 0 1 0 0 MGME1 92667 broad.mit.edu 37 20 17950722 17950722 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr20:17950722G>C ENST00000377710.5 + 2 508 c.220G>C c.(220-222)Gaa>Caa p.E74Q MGME1_ENST00000377709.1_Missense_Mutation_p.E74Q|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377704.4_Missense_Mutation_p.E74Q NM_052865.2 NP_443097.1 mitochondrial genome maintenance exonuclease 1 ATCGGTGGAGGAAGATGCTTT 0.493000 10 42 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91714218 91714218 + Missense_Mutation SNP T T G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:91714218T>G ENST00000359028.2 + 35 9033 c.8808T>G c.(8806-8808)agT>agG p.S2936R AKAP9_ENST00000356239.3_Missense_Mutation_p.S2932R|AKAP9_ENST00000358100.2_Intron Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2936 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAGAAGAAAGTGAAAGTGCAA 0.368000 T BRAF papillary thyroid 9 82 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:13717530T>A ENST00000265104.4 - 73 12703 c.12599A>T c.(12598-12600)aAg>aTg p.K4200M NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4200 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.K4200T(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGCACCGAACTTGCGCCTCTC 0.552000 Kartagener syndrome 8 38 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114261119 114261119 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:114261119C>T ENST00000545145.2 - 24 2871 c.2793G>A c.(2791-2793)ccG>ccA p.P931P RBM19_ENST00000392561.3_Silent_p.P931P|RBM19_ENST00000261741.5_Silent_p.P931P NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 931 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GCTTTTTCTTCGGGGGCTCTG 0.592000 12 27 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25480538 25480538 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:25480538C>G ENST00000381884.4 - 7 1823 c.1638G>C c.(1636-1638)atG>atC p.M546I CENPJ_ENST00000545981.1_Missense_Mutation_p.M546I NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 546 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CAGACTCTTTCATGGTCTCCC 0.448000 7 59 0 0 1 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984425 41984425 + Nonsense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr4:41984425C>T ENST00000333141.5 + 1 713 c.616C>T c.(616-618)Cag>Tag p.Q206* NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 206 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 AGGCTTGTCTCAGCAGGTCCT 0.577000 23 125 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3126761 3126761 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr18:3126761C>G ENST00000356443.4 - 19 3262 c.2929G>C c.(2929-2931)Gat>Cat p.D977H MYOM1_ENST00000261606.7_Missense_Mutation_p.D881H|MYOM1_ENST00000400569.3_Missense_Mutation_p.D977H|MYOM1_ENST00000582016.1_5'UTR NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 977 Fibronectin type-III 4. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GGTACCCCATCAATGACCTCG 0.463000 4 22 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71165503 71165503 + Silent SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:71165503A>G ENST00000357585.2 + 2 414 c.45A>G c.(43-45)ctA>ctG p.L15L SSTR2_ENST00000315332.2_Silent_p.L15L|RP11-143K11.5_ENST00000580671.1_RNA NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 15 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) ACACATGGCTATCCATTCCAT 0.498000 4 33 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79094996 79094996 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:79094996C>T ENST00000326724.4 - 11 2764 c.2740G>A c.(2740-2742)Gat>Aat p.D914N AATK_ENST00000417379.1_Missense_Mutation_p.D811N NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 914 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TAGCCACCATCACTGGCTGAG 0.662000 6 10 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72202048 72202048 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr14:72202048C>T ENST00000555818.1 + 20 5474 c.5126C>T c.(5125-5127)gCt>gTt p.A1709V SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A1163V|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A1688V|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A1688V NM_001284247.1|NM_015556.1 NP_001271176.1|NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1709 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CCCTTGAGTGCTGCATCCAAC 0.512000 12 86 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121825286 121825286 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:121825286G>A ENST00000330540.2 + 4 758 c.642G>A c.(640-642)atG>atA p.M214I CD86_ENST00000393627.2_Missense_Mutation_p.M208I|CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Missense_Mutation_p.M102I|CD86_ENST00000469710.1_Missense_Mutation_p.M132I NM_175862.4 NP_787058 P42081 CD86_HUMAN CD86 molecule 214 Ig-like C2-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding p.M214I(1) breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CGAGCAATATGACCATCTTCT 0.393000 35 210 0 0 1 0 0 ZFP91 80829 broad.mit.edu 37 11 58377337 58377337 + Silent SNP T T A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:58377337T>A ENST00000316059.6 + 3 576 c.405T>A c.(403-405)tcT>tcA p.S135S ZFP91-CNTF_ENST00000389919.4_Silent_p.S135S NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 135 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AAGACGATTCTGCCCTCCCTC 0.438000 4 31 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370747 240370747 + Missense_Mutation SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:240370747C>A ENST00000319653.9 + 5 2865 c.2635C>A c.(2635-2637)Cca>Aca p.P879T NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 879 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGTGCCTCCCCCACCTCCCCC 0.597000 11 40 4.68919e-08 5.02413e-08 1 1 0 ZNF626 199777 broad.mit.edu 37 19 20807848 20807848 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:20807848G>A ENST00000601440.1 - 4 981 c.835C>T c.(835-837)Cat>Tat p.H279Y CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TTTTCCGTATGAATTATCTCA 0.383000 34 112 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222803056 222803056 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:222803056G>A ENST00000344922.5 + 4 2519 c.2494G>A c.(2494-2496)Gac>Aac p.D832N MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.D832N NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 832 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TGACTTTTCTGACAGCATAAA 0.423000 10 39 0 0 1 0 0 GJA3 2700 broad.mit.edu 37 13 20716832 20716832 + Missense_Mutation SNP T T C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:20716832T>C ENST00000241125.3 - 2 772 c.596A>G c.(595-597)gAg>gGg p.E199G NM_021954.3 NP_068773.2 Q9Y6H8 CXA3_HUMAN gap junction protein, alpha 3, 46kDa 199 cell-cell signaling|visual perception connexon complex|integral to membrane NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) GATGGTCTTCTCCGTGGGCCT 0.607000 6 56 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109707445 109707445 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:109707445G>C ENST00000356711.2 + 26 3160 c.3034G>C c.(3034-3036)Gat>Cat p.D1012H MYO16_ENST00000457511.2_Missense_Mutation_p.D524H|MYO16_ENST00000357550.2_Missense_Mutation_p.D1012H NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1012 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GGAACGAGGAGATCCAGTCAC 0.338000 10 66 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57258449 57258449 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:57258449G>C ENST00000343433.6 - 2 117 c.37C>G c.(37-39)Cga>Gga p.R13G C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 13 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 AATTTGGCTCGAAGTTCCTTG 0.388000 15 154 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13841027 13841027 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:13841027G>C ENST00000265104.4 - 34 5801 c.5697C>G c.(5695-5697)atC>atG p.I1899M NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1899 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I1899M(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGTCATCAAAGATATCCCTTT 0.383000 Kartagener syndrome 6 86 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1279783 1279783 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:1279783G>A ENST00000381312.1 - 6 1691 c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 456 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) TCCTCGCGCCGCTTGCTAGGG 0.507000 3 45 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215848546 215848546 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:215848546C>T ENST00000366943.2 - 63 13093 c.12707G>A c.(12706-12708)tGt>tAt p.C4236Y USH2A_ENST00000307340.3_Missense_Mutation_p.C4236Y O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4236 Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTATATTCACACTGCGTCCA 0.428000 HNSCC(13;0.011) 6 61 0 0 1 0 0 HPSE2 60495 broad.mit.edu 37 10 100995414 100995414 + Missense_Mutation SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:100995414A>G ENST00000370552.3 - 1 205 c.146T>C c.(145-147)gTa>gCa p.V49A HPSE2_ENST00000370549.1_Missense_Mutation_p.V49A|HPSE2_ENST00000370546.1_Missense_Mutation_p.V49A|HPSE2_ENST00000404542.1_Missense_Mutation_p.V49A NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 49 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) AGCTCTGTCTACAGGCAAGGG 0.572000 14 75 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112437170 112437170 + Missense_Mutation SNP A A T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:112437170A>T ENST00000230538.7 - 36 5405 c.5008T>A c.(5008-5010)Ttt>Att p.F1670I LAMA4_ENST00000389463.4_Missense_Mutation_p.F1663I|LAMA4_ENST00000424408.2_Missense_Mutation_p.F1663I|LAMA4_ENST00000522006.1_Missense_Mutation_p.F1663I NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1670 Laminin G-like 5. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GCAATTTCAAACTTCAATCCA 0.398000 16 69 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113653034 113653034 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:113653034C>T ENST00000361127.5 + 13 1846 c.1648C>T c.(1648-1650)Cgt>Tgt p.R550C LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 Ig-like C2-type 1. 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) GAATTTTGTTCGTTATTGGCA 0.418000 31 121 0 0 1 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123124961 123124961 + Missense_Mutation SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:123124961C>A ENST00000368440.4 + 5 898 c.721C>A c.(721-723)Cag>Aag p.Q241K SMPDL3A_ENST00000539041.1_Missense_Mutation_p.Q110K NM_006714.3 NP_006705.1 Q92484 ASM3A_HUMAN sphingomyelin phosphodiesterase, acid-like 3A 241 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) GAACAACTCTCAGCAGAATAA 0.403000 26 77 7.41945e-09 8.03136e-09 1 1 0 C3 718 broad.mit.edu 37 19 6693063 6693063 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:6693063G>C ENST00000245907.6 - 26 3354 c.3262C>G c.(3262-3264)Ctg>Gtg p.L1088V NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1088 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TTGACAGCCAGAGAGAAGACC 0.582000 10 76 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35831921 35831921 + Nonsense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:35831921G>T ENST00000085219.5 + 7 1453 c.1387G>T c.(1387-1389)Gag>Tag p.E463* CD22_ENST00000270311.6_Nonsense_Mutation_p.E343*|CD22_ENST00000594250.1_Nonsense_Mutation_p.E286*|CD22_ENST00000536635.2_Nonsense_Mutation_p.E375*|CD22_ENST00000341773.6_Nonsense_Mutation_p.E286*|CD22_ENST00000544992.2_Nonsense_Mutation_p.E463*|CD22_ENST00000419549.2_Nonsense_Mutation_p.E291* NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 463 Ig-like C2-type 4. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TGGCGCCTGGGAGGAGCCATC 0.552000 15 77 7.93312e-07 8.41392e-07 1 1 0 GABRG1 2565 broad.mit.edu 37 4 46060510 46060510 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr4:46060510G>A ENST00000295452.4 - 6 922 c.755C>T c.(754-756)aCg>aTg p.T252M NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 252 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.T252M(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) ACCAGAGATCGTGTGAGTGAT 0.328000 12 38 0 0 1 0 0 C11orf57 55216 broad.mit.edu 37 11 111951297 111951297 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:111951297C>G ENST00000530104.1 + 4 392 c.335C>G c.(334-336)tCc>tGc p.S112C C11orf57_ENST00000532163.1_Intron|C11orf57_ENST00000393047.3_Intron|C11orf57_ENST00000420986.2_Intron|C11orf57_ENST00000280352.9_Intron Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 0 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) GTGATTAATTCCTGTGAGCAT 0.333000 8 72 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 4 265 0 0 1 0 0 MEDAG 84935 broad.mit.edu 37 13 31498487 31498487 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:31498487G>C ENST00000380482.4 + 5 1152 c.827G>C c.(826-828)aGa>aCa p.R276T TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA NM_032849.3 NP_116238 mesenteric estrogen-dependent adipogenesis CTGTCACCCAGATCATCTCTG 0.363000 4 84 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100998654 100998654 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:100998654G>A ENST00000325455.5 - 1 2601 c.1148C>T c.(1147-1149)cCc>cTc p.P383L PGR_ENST00000263463.5_Missense_Mutation_p.P383L|PGR_ENST00000534013.1_Intron NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 383 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CTTTAGAGCGGGCGGCTGGAA 0.682000 3 21 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9495513 9495513 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:9495513G>C ENST00000402466.1 + 18 2911 c.2143G>C c.(2143-2145)Gag>Cag p.E715Q SETD5_ENST00000302463.6_Missense_Mutation_p.E715Q|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.E813Q|SETD5_ENST00000406341.1_Missense_Mutation_p.E813Q|SETD5_ENST00000407969.1_Missense_Mutation_p.E832Q Q9C0A6 SETD5_HUMAN SET domain containing 5 813 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CCAAAGCAATGAGAATAGTAG 0.378000 6 47 0 0 1 0 0 CA8 767 broad.mit.edu 37 8 61192272 61192272 + Nonsense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr8:61192272G>A ENST00000317995.4 - 2 532 c.268C>T c.(268-270)Cag>Tag p.Q90* NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 90 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) AGGATAACCTGAATGGTATGT 0.418000 17 58 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46472021 46472021 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:46472021G>C ENST00000361297.2 + 8 1139 c.856G>C c.(856-858)Gaa>Caa p.E286Q MAST2_ENST00000372009.2_Missense_Mutation_p.E286Q NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 286 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) ACCAGATGAGGAAGGACGGCA 0.562000 10 77 0 0 1 0 0 ZFP91 80829 broad.mit.edu 37 11 58377347 58377347 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:58377347C>G ENST00000316059.6 + 3 586 c.415C>G c.(415-417)Cag>Gag p.Q139E ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.Q139E NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 139 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGCCCTCCCTCAGGAAGTTTC 0.458000 6 33 0 0 1 0 0 SLC31A1 1317 broad.mit.edu 37 9 116021044 116021044 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:116021044G>A ENST00000374212.4 + 4 425 c.273G>A c.(271-273)gaG>gaA p.E91E CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Silent_p.E91E NM_001859.3 NP_001850.1 O15431 COPT1_HUMAN solute carrier family 31 (copper transporter), member 1 91 integral to plasma membrane copper ion transmembrane transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 TAGCCCGAGAGAGCCTGCTGC 0.453000 9 82 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C C G rs104894228 TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:534286C>G ENST00000417302.1 - 2 224 c.37G>C c.(37-39)Ggt>Cgt p.G13R HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TTGCCCACACCGCCGGCGCCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 8 14 0 0 1 0 0 RING1 6015 broad.mit.edu 37 6 33179042 33179042 + Nonsense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:33179042C>G ENST00000374656.4 + 5 771 c.563C>G c.(562-564)tCa>tGa p.S188* RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 188 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 GATGTGAGCTCAGACTCCGCC 0.677000 14 72 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110864216 110864216 + Splice_Site SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:110864216G>A ENST00000375820.4 - 7 562 c.441C>T c.(439-441)ccC>ccT p.P147P COL4A1_ENST00000543140.1_Splice_Site_p.P147P NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 147 angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.P147P(2) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CTCTACTCACGGGATTTCCAG 0.468000 9 177 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101735502 101735502 + Missense_Mutation SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:101735502A>G ENST00000251127.6 - 32 3712 c.3631T>C c.(3631-3633)Ttt>Ctt p.F1211L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1211 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTCTTAAAAAATGGATGCTGG 0.413000 7 47 0 0 1 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482803 152482803 + Missense_Mutation SNP A A C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chrX:152482803A>C ENST00000356661.5 - 3 426 c.208T>G c.(208-210)Ttc>Gtc p.F70V NM_004988.4 NP_004979.3 P43355 MAGA1_HUMAN melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 70 cytoplasm|plasma membrane breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGTCGAGTGAAGTTGATGGTA 0.597000 18 116 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99355818 99355818 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:99355818G>C ENST00000354593.2 - 8 1103 c.1000C>G c.(1000-1002)Caa>Gaa p.Q334E CYP3A4_ENST00000336411.2_Missense_Mutation_p.Q484E P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 484 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TTTTCTGGTTGAAGAAGTCCT 0.393000 5 99 0 0 1 0 0 ZNF564 163050 broad.mit.edu 37 19 12638698 12638698 + Missense_Mutation SNP T T G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:12638698T>G ENST00000339282.7 - 4 420 c.224A>C c.(223-225)aAa>aCa p.K75T ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 ATCATATTCTTTACTTTCACT 0.323000 15 83 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42191091 42191091 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:42191091C>T ENST00000006724.3 - 2 327 c.126G>A c.(124-126)ccG>ccA p.P42P CEACAM7_ENST00000401731.1_Silent_p.P42P|CEACAM7_ENST00000338196.4_Silent_p.P42P|CEACAM7_ENST00000602225.1_Silent_p.P42P|CEACAM7_ENST00000599715.1_5'UTR NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 42 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CGACATTGAACGGCACGACAT 0.488000 12 87 0 0 1 0 0 PHF20L1 51105 broad.mit.edu 37 8 133848940 133848940 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr8:133848940G>C ENST00000395386.2 + 16 2364 c.2065G>C c.(2065-2067)Gat>Cat p.D689H PHF20L1_ENST00000395390.2_Missense_Mutation_p.D664H|PHF20L1_ENST00000220847.7_Missense_Mutation_p.D76H NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 689 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTGTGAGATGGATGAGGAGAA 0.398000 9 84 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89385009 89385009 + Missense_Mutation SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr15:89385009A>G ENST00000439576.2 + 5 1042 c.668A>G c.(667-669)gAc>gGc p.D223G ACAN_ENST00000352105.7_Missense_Mutation_p.D223G|ACAN_ENST00000559004.1_Missense_Mutation_p.D223G|ACAN_ENST00000561243.1_Missense_Mutation_p.D223G|ACAN_ENST00000558207.1_Missense_Mutation_p.D223G NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 223 cell adhesion hyaluronic acid binding|sugar binding p.D223G(2) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGCTATGGAGACAAGGATGAG 0.577000 13 68 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37618232 37618232 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr21:37618232C>T ENST00000399151.3 + 19 4039 c.3954C>T c.(3952-3954)ctC>ctT p.L1318L NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1318 L -> P (in Ref. 1; CAB41415). endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCACCTACCTCTGCCTGAGCT 0.582000 19 62 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124756680 124756680 + Missense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:124756680G>T ENST00000306534.3 - 16 2959 c.2474C>A c.(2473-2475)cCc>cAc p.P825H RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P680H NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 825 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ATAGGTGGTGGGGGGTGAAGG 0.592000 7 64 0.00448238 0.00464457 1 1 0 UBE2O 63893 broad.mit.edu 37 17 74387548 74387548 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:74387548G>C ENST00000319380.7 - 18 3419 c.3355C>G c.(3355-3357)Ccc>Gcc p.P1119A NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 1119 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 ACCTCGGGGGGCCGCCGCACC 0.602000 5 80 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120169949 120169949 + Nonsense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr4:120169949C>G ENST00000450251.1 + 3 828 c.284C>G c.(283-285)tCa>tGa p.S95* USP53_ENST00000274030.6_Nonsense_Mutation_p.S95* Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 95 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GCACTTCCCTCAGATAACATA 0.413000 11 82 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17036032 17036032 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:17036032C>G ENST00000443236.1 - 26 3693 c.3662G>C c.(3661-3663)aGa>aCa p.R1221T NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1174 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGTGGTCTCTCTCTCCACCTC 0.537000 5 47 0 0 1 0 0 LONRF2 164832 broad.mit.edu 37 2 100912009 100912009 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:100912009C>G ENST00000393437.3 - 8 2122 c.1483G>C c.(1483-1485)Gca>Cca p.A495P LONRF2_ENST00000409647.1_Missense_Mutation_p.A252P NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 495 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TTTCTGCTTGCCAATAACTGT 0.368000 3 48 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:7577099C>G ENST00000420246.2 - 8 971 c.839G>C c.(838-840)aGa>aCa p.R280T TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(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) GCGCCGGTCTCTCCCAGGACA 0.542000 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) 11 17 0 0 1 0 0 TCEB3 6924 broad.mit.edu 37 1 24080918 24080918 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:24080918G>C ENST00000418390.2 + 7 2108 c.1837G>C c.(1837-1839)Gat>Cat p.D613H TCEB3_ENST00000609199.1_Missense_Mutation_p.D587H NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 613 Activation domain (By similarity).|F-box. positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GTGTACACCTGATCAGCTGTA 0.468000 7 75 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54856731 54856731 + Silent SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:54856731G>T ENST00000333896.5 + 13 2806 c.2421G>T c.(2419-2421)gtG>gtT p.V807V SPTBN1_ENST00000356805.4_Silent_p.V820V NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 820 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) CTCCAGACGTGAGGGGCAGGC 0.637000 20 51 5.35267e-07 5.69625e-07 1 1 0 DPYD 1806 broad.mit.edu 37 1 98058935 98058935 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:98058935C>T ENST00000370192.3 - 10 1067 c.967G>A c.(967-969)Gcc>Acc p.A323T NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 323 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity p.A323P(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GAGTGACAGGCGCACATTCCT 0.453000 5 56 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61102943 61102943 + Nonsense_Mutation SNP T T A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:61102943T>A ENST00000196169.3 + 11 2093 c.1305T>A c.(1303-1305)taT>taA p.Y435* TDRD3_ENST00000535286.1_Nonsense_Mutation_p.Y528*|TDRD3_ENST00000377894.2_Nonsense_Mutation_p.Y435*|TDRD3_ENST00000377881.2_Nonsense_Mutation_p.Y435* NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 435 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CTGTAGATTATAATAATCAAA 0.333000 7 56 0 0 1 0 0 CLNS1A 1207 broad.mit.edu 37 11 77333667 77333667 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:77333667G>A ENST00000525428.1 - 5 614 c.524C>T c.(523-525)tCc>tTc p.S175F CLNS1A_ENST00000525064.1_Intron|CLNS1A_ENST00000528364.1_Missense_Mutation_p.S175F|CLNS1A_ENST00000263309.3_Missense_Mutation_p.S141F|CLNS1A_ENST00000532069.1_Missense_Mutation_p.S105F NM_001293.2 NP_001284.1 P54105 ICLN_HUMAN chloride channel, nucleotide-sensitive, 1A 175 blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly cytoskeleton|cytosol|nucleus|plasma membrane protein binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19) Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) TGTTAGATGGGATAATCCTTC 0.403000 11 40 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242192894 242192894 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:242192894C>T ENST00000391975.1 - 10 1434 c.1207G>A c.(1207-1209)Gag>Aag p.E403K HDLBP_ENST00000310931.4_Missense_Mutation_p.E403K|HDLBP_ENST00000391976.2_Missense_Mutation_p.E403K|HDLBP_ENST00000427183.2_Missense_Mutation_p.E370K NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 403 KH 4. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TCTTCGCCCTCTGTGAACTCG 0.522000 46 76 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81072495 81072495 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr10:81072495G>C ENST00000334512.5 + 25 3765 c.3193G>C c.(3193-3195)Gag>Cag p.E1065Q ZMIZ1_ENST00000446377.2_Missense_Mutation_p.E131Q NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1065 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GTCTCTATTTGAGAACAACTG 0.582000 17 84 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25671746 25671746 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr13:25671746C>T ENST00000281589.3 + 1 1447 c.1410C>T c.(1408-1410)gtC>gtT p.V470V NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 470 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TTCCACGAGTCATGTCAACGC 0.542000 5 69 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49224308 49224308 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:49224308G>A ENST00000308025.3 - 17 2486 c.2407C>T c.(2407-2409)Cat>Tat p.H803Y NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 803 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CCTGGCTTATGCTGGGCATCT 0.562000 3 49 0 0 1 0 0 ITPKC 80271 broad.mit.edu 37 19 41245405 41245405 + Silent SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:41245405C>T ENST00000263370.2 + 7 2025 c.1992C>T c.(1990-1992)gaC>gaT p.D664D NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 664 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ACCGTGAGGACGGCTACCTCT 0.627000 3 14 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38172986 38172986 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr8:38172986G>A ENST00000317025.8 - 11 2580 c.2063C>T c.(2062-2064)tCa>tTa p.S688L WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S688L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S688L NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 688 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CGACAAACTTGAATCCATGGA 0.418000 T NUP98 AML 32 73 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36053394 36053394 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr19:36053394G>A ENST00000262623.3 - 4 391 c.363C>T c.(361-363)atC>atT p.I121I NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 121 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGATGAGGCAGATGGCGGCGG 0.657000 5 43 0 0 1 0 0 SLC37A3 84255 broad.mit.edu 37 7 140051218 140051218 + Missense_Mutation SNP T T A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:140051218T>A ENST00000326232.9 - 9 940 c.737A>T c.(736-738)gAa>gTa p.E246V SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Missense_Mutation_p.E246V|SLC37A3_ENST00000340308.3_Missense_Mutation_p.E246V NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 246 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) TGAGTCTTCTTCAAAGTTTTC 0.433000 12 160 0 0 1 0 0 LRRC39 127495 broad.mit.edu 37 1 100618081 100618081 + Splice_Site SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:100618081C>G ENST00000370138.1 - 9 1011 c.e9-1 LRRC39_ENST00000370137.1_Splice_Site|LRRC39_ENST00000342895.3_Splice_Site NM_001256385.1 NP_001243314.1 Q96DD0 LRC39_HUMAN leucine rich repeat containing 39 endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 13 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) GTTGACAAACCTAGAAGTTCA 0.368000 11 69 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248632 20248632 + Missense_Mutation SNP C C A rs142431986 byFrequency TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr14:20248632C>A ENST00000315957.4 + 1 232 c.151C>A c.(151-153)Cta>Ata p.L51I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CACCATCAGGCTAGACCCTCA 0.418000 11 523 1.58986e-06 1.68056e-06 1 1 0 TRAJ42 28713 broad.mit.edu 37 14 22965925 22965925 + RNA SNP T T A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr14:22965925T>A ENST00000390495.1 + 0 54 CACTAAACTCTCTGTTAAACC 0.413000 4 56 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61854992 61854992 + Missense_Mutation SNP T T G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr16:61854992T>G ENST00000577390.1 - 6 1815 c.861A>C c.(859-861)gaA>gaC p.E287D CDH8_ENST00000584337.1_Missense_Mutation_p.E287D|CDH8_ENST00000299345.6_Missense_Mutation_p.E287D|CDH8_ENST00000577730.1_Missense_Mutation_p.E287D NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 287 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GAACCACATCTTCCGGTACTG 0.398000 5 36 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 27010432 27010432 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr4:27010432C>T ENST00000382009.3 + 11 1849 c.1582C>T c.(1582-1584)Cgc>Tgc p.R528C STIM2_ENST00000467011.1_Missense_Mutation_p.R433C|STIM2_ENST00000237364.5_Missense_Mutation_p.R520C|STIM2_ENST00000412829.2_Missense_Mutation_p.R520C|STIM2_ENST00000465503.1_Missense_Mutation_p.R441C|STIM2_ENST00000467087.1_Missense_Mutation_p.R433C NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 433 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) ACGACTTTTTCGCTGGCAACA 0.433000 10 61 0 0 1 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77043890 77043890 + Missense_Mutation SNP T T C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr17:77043890T>C ENST00000339142.2 + 5 1121 c.566T>C c.(565-567)gTg>gCg p.V189A C1QTNF1_ENST00000392445.2_Missense_Mutation_p.V189A|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.V189A|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.V107A|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.V189A|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.V189A|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.V107A|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.V189A|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.V189A|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.V199A NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 189 C1q. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) TACTGCTACGTGCCCGGCCTC 0.527000 22 87 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226040394 226040394 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:226040394C>G ENST00000366835.3 - 20 2144 c.1874G>C c.(1873-1875)aGc>aCc p.S625T NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 625 integral to membrane|lysosomal membrane nucleotide binding p.S625N(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) ACAAGTGATGCTGTAGGCCAC 0.572000 3 39 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112020459 112020459 + Silent SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr9:112020459G>A ENST00000374566.3 - 7 1267 c.750C>T c.(748-750)tgC>tgT p.C250C EPB41L4B_ENST00000374557.4_Silent_p.C250C NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 250 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAAGGTACCTGCACTCTTTCC 0.398000 10 62 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32739136 32739136 + Splice_Site SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:32739136C>T ENST00000265074.8 + 3 1402 c.1059C>T c.(1057-1059)taC>taT p.Y353Y NPR3_ENST00000415685.2_Splice_Site_p.Y137Y|NPR3_ENST00000415167.2_Splice_Site_p.Y353Y|NPR3_ENST00000434067.2_Splice_Site_p.Y137Y NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 353 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) TGGAGGATTACGTAAGTGCCT 0.408000 11 34 0 0 1 0 0 C16orf58 64755 broad.mit.edu 37 16 31512031 31512031 + Missense_Mutation SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr16:31512031C>A ENST00000327237.2 - 3 476 c.437G>T c.(436-438)cGc>cTc p.R146L C16orf58_ENST00000430477.2_Missense_Mutation_p.R4L|C16orf58_ENST00000567994.1_Missense_Mutation_p.R101L|C16orf58_ENST00000570164.1_Missense_Mutation_p.R146L Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 146 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 AAAGACGATGCGGCCCAGCAT 0.542000 4 36 0.014758 0.0150934 1 1 0 CYP20A1 57404 broad.mit.edu 37 2 204131302 204131302 + Missense_Mutation SNP G G T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:204131302G>T ENST00000356079.4 + 5 621 c.498G>T c.(496-498)caG>caT p.Q166H CYP20A1_ENST00000429815.2_Missense_Mutation_p.Q166H|CYP20A1_ENST00000461371.1_3'UTR NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 166 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 CCCTCAGCCAGCATATGCTTG 0.423000 5 135 0.014758 0.0150934 1 1 0 HIST1H2BL 8340 broad.mit.edu 37 6 27775456 27775456 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:27775456C>T ENST00000377401.2 - 1 253 c.229G>A c.(229-231)Gag>Aag p.E77K NM_003519.3 NP_003510.1 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 77 nucleosome assembly nucleosome|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 CGGGAAGCCTCGCTTGCGATG 0.617000 41 109 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29976205 29976205 + RNA SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr6:29976205C>T ENST00000376797.3 - 0 1053 ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA ATGTGCAGCACAAGGGGCTGC 0.587000 3 32 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64894063 64894063 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr14:64894063C>T ENST00000545908.1 + 12 1533 c.1304C>T c.(1303-1305)cCa>cTa p.P435L MTHFD1_ENST00000216605.8_Missense_Mutation_p.P379L|CTD-2555O16.2_ENST00000556640.1_RNA P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 379 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) AGAATAACTCCAACACCCCTG 0.448000 9 43 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52981602 52981602 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:52981602C>T ENST00000293745.2 - 7 1208 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K KRT72_ENST00000354310.4_Missense_Mutation_p.E333K|KRT72_ENST00000537672.2_Missense_Mutation_p.E375K|KRT72_ENST00000398066.3_Missense_Mutation_p.E187K NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 375 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) CCCCGCTGTTCAGCGTCGGCG 0.627000 4 32 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70170995 70170995 + Silent SNP C C A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr11:70170995C>A ENST00000253925.7 + 4 624 c.409C>A c.(409-411)Cgg>Agg p.R137R AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.R137R NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 137 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CAGGCATGAGCGGTCTCTTAG 0.443000 5 175 0.000602214 0.000626064 1 1 0 MET 4233 broad.mit.edu 37 7 116418859 116418859 + Missense_Mutation SNP T T C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:116418859T>C ENST00000397752.3 + 17 3570 c.3370T>C c.(3370-3372)Ttt>Ctt p.F1124L MET_ENST00000318493.6_Missense_Mutation_p.F1142L|MET_ENST00000539704.1_5'UTR NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1124 Protein kinase. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AGTTTCCCAATTTCTGACCGA 0.443000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 8 43 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49445809 49445809 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:49445809G>C ENST00000301067.7 - 10 1656 c.1657C>G c.(1657-1659)Cct>Gct p.P553A NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGGACAAAGGAGATTCTTCA 0.597000 10 69 0 0 1 0 0 KIF5C 3800 broad.mit.edu 37 2 149864504 149864504 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:149864504G>C ENST00000435030.1 + 23 2841 c.2473G>C c.(2473-2475)Ggg>Cgg p.G825R KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.G730R|KIF5C_ENST00000397413.1_Missense_Mutation_p.G593R O60282 KIF5C_HUMAN kinesin family member 5C 825 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CGATGATGGAGGGGGCAGTGC 0.562000 3 28 0 0 1 0 0 ROPN1L 83853 broad.mit.edu 37 5 10442379 10442379 + Nonsense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr5:10442379C>T ENST00000503804.1 + 2 621 c.100C>T c.(100-102)Cag>Tag p.Q34* ROPN1L_ENST00000274134.4_Nonsense_Mutation_p.Q34*|ROPN1L_ENST00000510520.1_3'UTR Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 34 RIIa. ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 CATCCGCACCCAGCCGGCCGA 0.667000 6 45 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31605324 31605324 + Missense_Mutation SNP G G C TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr12:31605324G>C ENST00000389082.5 - 5 1443 c.1179C>G c.(1177-1179)atC>atG p.I393M DENND5B_ENST00000536562.1_Missense_Mutation_p.I428M|DENND5B_ENST00000306833.6_Missense_Mutation_p.I428M|DENND5B_ENST00000354285.4_Missense_Mutation_p.I415M NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 393 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGAGTTCTTGGATAAAATCCA 0.403000 9 37 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13866940 13866940 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr20:13866940C>G ENST00000284951.5 - 9 968 c.894G>C c.(892-894)caG>caC p.Q298H SEL1L2_ENST00000378072.5_Missense_Mutation_p.Q298H|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 298 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TTACTTGTATCTGAACATCTC 0.368000 9 50 0 0 1 0 0 ZNF707 286075 broad.mit.edu 37 8 144776098 144776098 + Missense_Mutation SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr8:144776098G>A ENST00000532205.1 + 8 1413 c.514G>A c.(514-516)Gta>Ata p.V172I ZNF707_ENST00000532158.1_Missense_Mutation_p.V172I|ZNF707_ENST00000454097.1_Missense_Mutation_p.V172I|ZNF707_ENST00000418203.2_Missense_Mutation_p.V172I|ZNF707_ENST00000358656.4_Missense_Mutation_p.V172I Q96C28 ZN707_HUMAN zinc finger protein 707 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCAGCGCGCAGTAGAGCTGTC 0.672000 5 19 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37439059 37439059 + Missense_Mutation SNP T T G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:37439059T>G ENST00000234170.5 - 12 2872 c.2727A>C c.(2725-2727)gaA>gaC p.E909D RP11-423P10.2_ENST00000606229.1_RNA|AC007390.5_ENST00000397064.2_Intron NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 909 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) CAGCAAATTCTTCATCATCCA 0.363000 7 46 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107616137 107616137 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr7:107616137C>T ENST00000393561.1 - 8 1442 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K LAMB1_ENST00000222399.6_Missense_Mutation_p.E396K|LAMB1_ENST00000393560.1_Missense_Mutation_p.E396K P07942 LAMB1_HUMAN laminin, beta 1 396 Laminin EGF-like 3. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACATACGTTCACAGAAATTA 0.473000 8 54 0 0 1 0 0 LHFPL4 375323 broad.mit.edu 37 3 9547687 9547687 + Missense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr3:9547687C>G ENST00000287585.6 - 3 892 c.607G>C c.(607-609)Gac>Cac p.D203H NM_198560.2 NP_940962.1 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 203 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) TGCAGCAGGTCTGTTTGCCGG 0.637000 4 58 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71512570 71512570 + Missense_Mutation SNP C C T TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr1:71512570C>T ENST00000370924.4 - 1 921 c.691G>A c.(691-693)Gcc>Acc p.A231T PTGER3_ENST00000354608.5_Missense_Mutation_p.A231T|PTGER3_ENST00000460330.1_Missense_Mutation_p.A231T|PTGER3_ENST00000306666.5_Missense_Mutation_p.A231T|PTGER3_ENST00000356595.4_Missense_Mutation_p.A231T|PTGER3_ENST00000414819.1_Missense_Mutation_p.A231T|PTGER3_ENST00000370932.2_Missense_Mutation_p.A231T|PTGER3_ENST00000370931.3_Missense_Mutation_p.A231T|PTGER3_ENST00000351052.5_Missense_Mutation_p.A231T NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 231 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) AAGGCAGAGGCGAAGAAAAGG 0.632000 11 71 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42965028 42965028 + Silent SNP A A G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr4:42965028A>G ENST00000399770.2 + 2 504 c.504A>G c.(502-504)gtA>gtG p.V168V NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 168 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 ACCATCGCGTAAAATTTGAAG 0.428000 51 143 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20852874 20852874 + Splice_Site SNP T T G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr14:20852874T>G ENST00000262715.5 - 22 3148 c.e22-2 TEP1_ENST00000556935.1_Splice_Site NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGCACAGAGCTGACCACCAAA 0.512000 9 73 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37227804 37227805 + Frame_Shift_Del DEL CA CA - TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76dfa963-9f1a-4802-a41f-716b306fecde 690c825d-7f81-470c-8cf6-a19e1ed87be3 g.chr2:37227804_37227805delCA ENST00000233099.5 - 33 5564_5565 c.5469_5470delTG c.(5467-5472)actgagfs p.E1824fs HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.E1735fs NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1824 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) ACGCCAGCCTCAGTTTTGGCCA 0.431 19 97 --- --- --- ---