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 ZFP36L2 678 broad.mit.edu 37 2 43452849 43452849 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:43452849C>T ENST00000282388.3 - 2 387 c.94G>A c.(94-96)Gac>Aac p.D32N THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 32 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GCCTTCTTGTCCAGCATGTTG 0.642000 7 18 0 0 0.003080 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73448546 73448546 + Missense_Mutation SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr14:73448546A>G ENST00000556143.1 - 5 1981 c.1261T>C c.(1261-1263)Ttt>Ctt p.F421L ZFYVE1_ENST00000553891.1_Missense_Mutation_p.F421L|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.F6L|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.F6L|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.F421L NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 421 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) TCTGGAAAAAAGGAGCTGTGC 0.552000 3 131 0 0 0.000248 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42133453 42133453 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:42133453C>T ENST00000382448.4 + 11 1119 c.1110C>T c.(1108-1110)gtC>gtT p.V370V PLA2G4B_ENST00000452633.1_Silent_p.V139V|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.V139V|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.V370V NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 139 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 AGTGGCTCGTCAGCAATGGCG 0.667000 17 85 0 0 0.006122 0 0 GPC2 221914 broad.mit.edu 37 7 99773453 99773453 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:99773453G>A ENST00000292377.2 - 3 557 c.390C>T c.(388-390)taC>taT p.Y130Y NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 130 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACAGGCGGCCGTAGGAGTGGG 0.567000 41 50 0 0 0.003610 0 0 DNAJC11 55735 broad.mit.edu 37 1 6697514 6697514 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:6697514G>A ENST00000377577.5 - 13 1497 c.1374C>T c.(1372-1374)tcC>tcT p.S458S DNAJC11_ENST00000294401.7_Silent_p.S406S|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.S368S|DNAJC11_ENST00000542246.1_Silent_p.S420S|DNAJC11_ENST00000349363.6_Intron NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 458 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CACCCATTCTGGACTCTTCTG 0.582000 96 67 0 0 0.003610 0 0 STK31 56164 broad.mit.edu 37 7 23830531 23830531 + Nonsense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:23830531C>G ENST00000354639.3 + 22 3121 c.2657C>G c.(2656-2658)tCa>tGa p.S886* STK31_ENST00000433467.2_Nonsense_Mutation_p.S909*|STK31_ENST00000355870.3_Nonsense_Mutation_p.S909*|STK31_ENST00000428484.1_Nonsense_Mutation_p.S886*|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 909 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TCTCCAGGTTCAGACTTATAT 0.353000 10 31 0 0 0.006214 0 0 TBC1D13 54662 broad.mit.edu 37 9 131566365 131566365 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:131566365G>C ENST00000372648.5 + 9 1035 c.885G>C c.(883-885)ttG>ttC p.L295F TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000539497.1_Missense_Mutation_p.L114F NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 295 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 ACTCCACCTTGAAAGATAAGG 0.537000 15 60 0 0 0.003163 0 0 CYP2E1 1571 broad.mit.edu 37 10 135347301 135347301 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr10:135347301C>G ENST00000463117.2 + 8 1139 c.867C>G c.(865-867)atC>atG p.I289M CYP2E1_ENST00000252945.3_Missense_Mutation_p.I289M|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 289 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|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 p.I289I(1) NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) TGGACGGTATCACCGTGACTG 0.527000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 29 130 0 0 0.002836 0 0 NOTCH1 4851 broad.mit.edu 37 9 139397641 139397641 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:139397641G>A ENST00000277541.6 - 27 5235 c.5160C>T c.(5158-5160)gcC>gcT p.A1720A NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1720 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.A1721_V1722>YG(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TACTCTGCACGGCCTCGATCT 0.657000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 8 41 0 0 0.006214 0 0 CRNN 49860 broad.mit.edu 37 1 152383333 152383333 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:152383333C>T ENST00000271835.3 - 3 287 c.225G>A c.(223-225)ctG>ctA p.L75L RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 75 EF-hand. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACACTAAGACCAGGAATTCCT 0.542000 30 53 0 0 0.007291 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42132731 42132731 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:42132731C>G ENST00000382448.4 + 8 794 c.785C>G c.(784-786)tCt>tGt p.S262C PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S31C|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S31C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S262C NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 31 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 GTGACCCCCTCTGACTGCTAC 0.622000 17 62 0 0 0.004007 0 0 C21orf58 54058 broad.mit.edu 37 21 47737162 47737162 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr21:47737162C>G ENST00000291691.7 - 3 1466 c.330G>C c.(328-330)caG>caC p.Q110H C21orf58_ENST00000397685.4_Missense_Mutation_p.Q27H|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 110 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) CTTCCACGTTCTGCCGTTCTT 0.602000 6 12 0 0 0.004482 0 0 RNF146 81847 broad.mit.edu 37 6 127607982 127607982 + Missense_Mutation SNP G G A rs146049752 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:127607982G>A ENST00000368314.1 + 3 648 c.224G>A c.(223-225)cGa>cAa p.R75Q RNF146_ENST00000356799.2_Missense_Mutation_p.R74Q|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.R74Q NM_001242849.1|NM_001242850.1|NM_001242851.1 NP_001229778.1|NP_001229779.1|NP_001229780.1 Q9NTX7 RN146_HUMAN ring finger protein 146 75 positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2) GCTCTTTGTCGACAAGAAATT 0.443000 13 60 0 0 0.001368 0 0 GTF3C4 9329 broad.mit.edu 37 9 135554462 135554462 + Missense_Mutation SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:135554462G>T ENST00000372146.4 + 2 2020 c.1456G>T c.(1456-1458)Ggt>Tgt p.G486C GTF3C4_ENST00000483873.2_3'UTR NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 486 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) GAGCCCCTGCGGTGCATACCT 0.468000 15 76 7.93312e-07 1.37624e-06 0.002450 1 0 ATP6V1A 523 broad.mit.edu 37 3 113497631 113497631 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:113497631G>A ENST00000273398.3 + 2 139 c.31G>A c.(31-33)Gat>Aat p.D11N ATP6V1A_ENST00000538620.1_De_novo_Start_InFrame NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 11 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CAAAATACTCGATGAAGATAA 0.299000 5 34 0 0 0.001168 0 0 CCDC39 339829 broad.mit.edu 37 3 180359892 180359892 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:180359892C>A ENST00000273654.4 - 19 2634 c.2015G>T c.(2014-2016)aGa>aTa p.R672I CCDC39_ENST00000442201.2_Missense_Mutation_p.R588I Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 588 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTGCTGTTTTCTTTTTTCTAG 0.358000 30 87 9.80776e-20 1.83312e-19 0.006320 1 0 OLFM3 118427 broad.mit.edu 37 1 102312416 102312416 + Silent SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:102312416C>A ENST00000338858.5 - 1 113 c.114G>T c.(112-114)tcG>tcT p.S38S OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000359814.3_Silent_p.S38S Q96PB7 NOE3_HUMAN olfactomedin 3 38 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TATCCGGAGTCGACAGCCTCG 0.473000 10 54 9.70103e-10 1.73075e-09 0.008291 1 0 WWP1 11059 broad.mit.edu 37 8 87423945 87423945 + Silent SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:87423945A>G ENST00000517970.1 + 9 1210 c.903A>G c.(901-903)gcA>gcG p.A301A WWP1_ENST00000349423.2_Silent_p.A83A|WWP1_ENST00000341922.2_Silent_p.A171A|WWP1_ENST00000265428.4_Silent_p.A301A NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 301 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 CTACCAGTGCAGAATTGGAAT 0.403000 22 57 0 0 0.002299 0 0 OR9A4 130075 broad.mit.edu 37 7 141619410 141619410 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:141619410C>T ENST00000548136.1 + 1 794 c.735C>T c.(733-735)ttC>ttT p.F245F MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CCTCCCACTTCACCTGTGTTG 0.502000 7 107 0 0 0.001984 0 0 DMP1 1758 broad.mit.edu 37 4 88583266 88583266 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:88583266C>A ENST00000339673.6 + 6 435 c.336C>A c.(334-336)gaC>gaA p.D112E DMP1_ENST00000282479.7_Missense_Mutation_p.D96E|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 112 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding p.D112D(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GTGGAGATGACACCTTTGGTG 0.478000 25 20 2.39556e-15 4.42475e-15 0.002780 1 0 VPS13A 23230 broad.mit.edu 37 9 79824394 79824394 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:79824394C>T ENST00000360280.3 + 6 701 c.441C>T c.(439-441)atC>atT p.I147I VPS13A_ENST00000376634.4_Silent_p.I147I|VPS13A_ENST00000376636.3_Silent_p.I147I|VPS13A_ENST00000357409.5_Silent_p.I147I NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 147 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTACACAGATCATAAAAAATC 0.254000 7 19 0 0 0.006214 0 0 KRT5 3852 broad.mit.edu 37 12 52912854 52912854 + Nonsense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:52912854C>A ENST00000252242.4 - 2 1036 c.646G>T c.(646-648)Gag>Tag p.E216* NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 216 Linker 1.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) AACAACGGCTCCAGGTTCTGC 0.602000 43 77 4.16155e-14 7.64167e-14 0.008740 1 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011444 105011444 + Silent SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chrX:105011444T>C ENST00000372582.1 + 11 2607 c.1851T>C c.(1849-1851)tgT>tgC p.C617C IL1RAPL2_ENST00000344799.4_Silent_p.C617C|IL1RAPL2_ENST00000538500.1_Silent_p.C222C NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 617 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TCAGGCACTGTTGCAGAGGTT 0.483000 14 121 0 0 0.002450 0 0 SIT1 27240 broad.mit.edu 37 9 35650526 35650526 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:35650526C>A ENST00000259608.3 - 2 295 c.209G>T c.(208-210)cGg>cTg p.R70L SIT1_ENST00000474403.1_Intron NM_014450.2 NP_055265.1 Q9Y3P8 SIT1_HUMAN signaling threshold regulating transmembrane adaptor 1 70 regulation of T cell activation|signal transduction integral to plasma membrane kinase binding|SH2 domain binding endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 9 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCTCCTGCTCCGGCCCCTGGT 0.597000 16 319 1.99824e-07 3.48581e-07 0.004990 1 0 GDF5OS 554250 broad.mit.edu 37 20 34022225 34022225 + Nonsense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:34022225C>A ENST00000374375.1 + 2 711 c.269C>A c.(268-270)tCg>tAg p.S90* GDF5_ENST00000374369.3_Missense_Mutation_p.D330Y|GDF5_ENST00000374372.1_Missense_Mutation_p.D330Y cervix(1)|endometrium(4)|lung(4) 9 GCGGCGCGGTCGAAGCCCAGG 0.632000 4 37 0.00024832 0.000414747 0.000248 1 0 KCNA2 3737 broad.mit.edu 37 1 111146468 111146468 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:111146468C>A ENST00000485317.1 - 3 1610 c.937G>T c.(937-939)Ggt>Tgt p.G313C KCNA2_ENST00000440270.1_Missense_Mutation_p.G313C|KCNA2_ENST00000316361.4_Missense_Mutation_p.G313C|KCNA2_ENST00000369770.3_Intron P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 313 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) ATCTGGAGACCTTTGGAGTGT 0.502000 21 71 7.41877e-09 1.3161e-08 0.001882 1 0 AKAP12 9590 broad.mit.edu 37 6 151671694 151671694 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:151671694C>T ENST00000402676.2 + 4 2408 c.2168C>T c.(2167-2169)aCg>aTg p.T723M AKAP12_ENST00000253332.1_Missense_Mutation_p.T723M|AKAP12_ENST00000354675.6_Missense_Mutation_p.T625M|AKAP12_ENST00000359755.5_Missense_Mutation_p.T618M NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 723 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GACAAAGAGACGGGGACAGAC 0.567000 12 133 0 0 0.001855 0 0 DHX8 1659 broad.mit.edu 37 17 41584941 41584941 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:41584941T>C ENST00000262415.3 + 14 2066 c.1994T>C c.(1993-1995)aTg>aCg p.M665T DHX8_ENST00000540306.1_Missense_Mutation_p.M665T NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 665 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ACAGATGGGATGTTGCTTAGA 0.478000 13 60 0 0 0.001855 0 0 NRXN2 9379 broad.mit.edu 37 11 64457916 64457916 + Missense_Mutation SNP C C A rs138744105 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:64457916C>A ENST00000265459.6 - 5 1272 c.811G>T c.(811-813)Ggg>Tgg p.G271W NRXN2_ENST00000409571.1_Missense_Mutation_p.G271W|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000377551.1_Missense_Mutation_p.G271W NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 271 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CCTCCTCTCCCGGCCCCCCCC 0.642000 8 47 0.000442599 0.000731454 0.006214 1 0 ITGA11 22801 broad.mit.edu 37 15 68605146 68605146 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:68605146C>T ENST00000423218.2 - 24 3033 c.2938G>A c.(2938-2940)Gat>Aat p.D980N ITGA11_ENST00000315757.7_Missense_Mutation_p.D980N Q9UKX5 ITA11_HUMAN integrin, alpha 11 980 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) CCGATACCATCGTATCTCTCC 0.637000 7 29 0 0 0.001984 0 0 LONP2 83752 broad.mit.edu 37 16 48382183 48382183 + Silent SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr16:48382183G>C ENST00000285737.4 + 14 2412 c.2319G>C c.(2317-2319)ctG>ctC p.L773L LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Silent_p.L729L NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 773 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AAATTACACTGAGAGGTCTTG 0.353000 31 112 0 0 0.001786 0 0 TTN 7273 broad.mit.edu 37 2 179606289 179606289 + Missense_Mutation SNP T T G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:179606289T>G ENST00000589042.1 - 48 11895 c.11671A>C c.(11671-11673)Aca>Cca p.T3891P TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T3720P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3528P|TTN_ENST00000591111.1_Missense_Mutation_p.T3574P|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3653P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3574 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCATACATGTATACTCTCCC 0.393000 18 126 0 0 0.004990 0 0 ABCB6 10058 broad.mit.edu 37 2 220078866 220078866 + Nonsense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:220078866G>A ENST00000265316.3 - 8 1745 c.1429C>T c.(1429-1431)Cga>Tga p.R477* ABCB6_ENST00000439002.2_Nonsense_Mutation_p.R431* NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 477 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGGCCTCTCGATAGCGTTCC 0.478000 34 103 0 0 0.004878 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42134763 42134763 + Missense_Mutation SNP G G A rs2290552 by1000genomes TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:42134763G>A ENST00000382448.4 + 15 1419 c.1410G>A c.(1408-1410)atG>atA p.M470I PLA2G4B_ENST00000452633.1_Missense_Mutation_p.M239I|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.M239I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.M470I NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 239 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 AGCCCCTGATGAGAGTGGAGC 0.637000 7 37 0 0 0.001984 0 0 ZNF594 84622 broad.mit.edu 37 17 5087253 5087253 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:5087253C>T ENST00000399604.4 - 1 439 c.299G>A c.(298-300)aGa>aAa p.R100K ZNF594_ENST00000575779.1_Missense_Mutation_p.R100K Q96JF6 ZN594_HUMAN zinc finger protein 594 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 AACCTCATATCTATGGGAGCT 0.373000 12 57 0 0 0.000978 0 0 ARL6IP1 23204 broad.mit.edu 37 16 18809332 18809332 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr16:18809332C>G ENST00000304414.7 - 3 416 c.205G>C c.(205-207)Ggc>Cgc p.G69R ARL6IP1_ENST00000562819.1_Intron|RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.G69R|ARL6IP1_ENST00000546206.2_Missense_Mutation_p.G40R NM_015161.1 NP_055976.1 Q15041 AR6P1_HUMAN ADP-ribosylation factor-like 6 interacting protein 1 69 integral to membrane protein binding breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1) 11 CAGGAAACGCCGGACAGAACA 0.343000 7 44 0 0 0.001984 0 0 RALGPS1 9649 broad.mit.edu 37 9 129974476 129974476 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:129974476G>A ENST00000259351.5 + 15 1581 c.1314G>A c.(1312-1314)ctG>ctA p.L438L RALGPS1_ENST00000373434.1_Silent_p.L396L|RALGPS1_ENST00000424082.2_Silent_p.L396L NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 438 PH.|Required for stimulation of nucleotide exchange by RALA. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 AGGGGCCTCTGAGAAGAAAAA 0.607000 11 28 0 0 0.000978 0 0 ABRA 137735 broad.mit.edu 37 8 107773700 107773700 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:107773700C>T ENST00000311955.3 - 2 765 c.711G>A c.(709-711)caG>caA p.Q237Q NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 237 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GGCTATATTTCTGTTGGGCTT 0.423000 19 137 0 0 0.001882 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 5 70 0 0 0.003080 0 0 IGDCC4 57722 broad.mit.edu 37 15 65678901 65678901 + Missense_Mutation SNP C C T rs147594173 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:65678901C>T ENST00000352385.2 - 17 3148 c.2939G>A c.(2938-2940)cGc>cAc p.R980H NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 980 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GTGGGGGCTGCGGCGCAGGCC 0.632000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 14 0 0 0.000602 0 0 FOXD4 2298 broad.mit.edu 37 9 117484 117484 + Silent SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:117484G>T ENST00000382500.2 - 1 933 c.636C>A c.(634-636)ccC>ccA p.P212P NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 212 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGAAGGGGTGGGGCAGGTGGG 0.716000 13 747 9.16793e-09 1.61726e-08 0.004990 1 0 DNAH3 55567 broad.mit.edu 37 16 20975470 20975470 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr16:20975470G>C ENST00000261383.3 - 53 9735 c.9736C>G c.(9736-9738)Ctc>Gtc p.L3246V DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3246 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GACATGGAGAGAACCTCCAAG 0.443000 33 98 0 0 0.002836 0 0 CD79A 973 broad.mit.edu 37 19 42383229 42383229 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr19:42383229G>A ENST00000221972.3 + 2 434 c.249G>A c.(247-249)ccG>ccA p.P83P CD79A_ENST00000444740.2_Silent_p.P83P NM_001783.3|NM_021601.3 NP_001774.1|NP_067612.1 P11912 CD79A_HUMAN CD79a molecule, immunoglobulin-associated alpha 83 Ig-like C2-type. B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 TCTTGGGCCCGGGCGAGGACC 0.602000 """O, S""" DLBCL 6 100 0 0 0.001984 0 0 TMC6 11322 broad.mit.edu 37 17 76113582 76113582 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:76113582G>A ENST00000590602.1 - 17 2324 c.2165C>T c.(2164-2166)aCc>aTc p.T722I TMC6_ENST00000392467.3_Missense_Mutation_p.T722I|TMC6_ENST00000591436.1_Missense_Mutation_p.T301I|TMC6_ENST00000322914.3_Missense_Mutation_p.T722I|TMC6_ENST00000322933.4_Missense_Mutation_p.T301I|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron Q7Z403 TMC6_HUMAN transmembrane channel-like 6 722 endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GACAAAGAAGGTGTTTTCCAT 0.682000 4 7 0 0 0.000602 0 0 TACR1 6869 broad.mit.edu 37 2 75347732 75347732 + Nonsense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:75347732C>T ENST00000305249.4 - 2 1317 c.552G>A c.(550-552)tgG>tgA p.W184* TACR1_ENST00000497764.1_5'UTR|TACR1_ENST00000409848.3_Nonsense_Mutation_p.W184* NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 184 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GATGCTCTGGCCATTCGATCA 0.547000 16 104 0 0 0.004007 0 0 CCDC57 284001 broad.mit.edu 37 17 80146213 80146213 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:80146213C>G ENST00000392347.1 - 7 970 c.934G>C c.(934-936)Gag>Cag p.E312Q CCDC57_ENST00000389641.4_Missense_Mutation_p.E312Q|CCDC57_ENST00000392343.3_Missense_Mutation_p.E312Q NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 312 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GTCTGCAGCTCCTGCAGCTGC 0.642000 5 12 0 0 0.000602 0 0 USP36 57602 broad.mit.edu 37 17 76832439 76832439 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:76832439T>C ENST00000312010.6 - 3 331 c.7A>G c.(7-9)Ata>Gta p.I3V USP36_ENST00000542802.2_Missense_Mutation_p.I3V|USP36_ENST00000590546.2_Missense_Mutation_p.I3V|USP36_ENST00000589424.1_Missense_Mutation_p.I3V NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 3 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TTATCCACTATTGGCATGGTG 0.493000 23 41 0 0 0.005443 0 0 GBP7 388646 broad.mit.edu 37 1 89613381 89613381 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:89613381G>A ENST00000294671.2 - 8 1372 c.1234C>T c.(1234-1236)Cgg>Tgg p.R412W NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 412 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TCTGAAAGCCGCTTAAGCTCA 0.438000 137 58 0 0 0.003610 0 0 EMC7 56851 broad.mit.edu 37 15 34380295 34380295 + Silent SNP G G A rs151160666 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:34380295G>A ENST00000256545.4 - 4 643 c.535C>T c.(535-537)Ctg>Ttg p.L179L NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ACTTTAGGCAGAAGCACAAAT 0.358000 3 22 0 0 0.000248 0 0 CDCA2 157313 broad.mit.edu 37 8 25346199 25346199 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:25346199G>A ENST00000330560.3 + 13 2142 c.1665G>A c.(1663-1665)aaG>aaA p.K555K CDCA2_ENST00000380665.3_Silent_p.K540K|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 555 Lys-rich. cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TTCCTAAGAAGAGTCAGGTAA 0.313000 8 29 0 0 0.004482 0 0 FAM135A 57579 broad.mit.edu 37 6 71232223 71232223 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:71232223G>C ENST00000418814.2 + 13 1651 c.1037G>C c.(1036-1038)aGa>aCa p.R346T FAM135A_ENST00000457062.2_Missense_Mutation_p.R329T|FAM135A_ENST00000361499.3_Missense_Mutation_p.R346T|FAM135A_ENST00000370479.3_Missense_Mutation_p.R329T|FAM135A_ENST00000505868.1_Missense_Mutation_p.R346T|FAM135A_ENST00000505769.1_Missense_Mutation_p.R346T NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 346 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TAGGTACGCAGATTTTCTGAG 0.353000 24 139 0 0 0.006320 0 0 DENND6A 201627 broad.mit.edu 37 3 57616485 57616485 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:57616485G>C ENST00000311128.5 - 17 1544 c.1474C>G c.(1474-1476)Cag>Gag p.Q492E RP11-755B10.2_ENST00000470427.1_RNA NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A GAGGTTAGCTGAGGTCCTGTT 0.353000 10 25 0 0 0.000978 0 0 ABCB8 11194 broad.mit.edu 37 7 150741174 150741174 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:150741174G>A ENST00000358849.4 + 15 1975 c.1882G>A c.(1882-1884)Gag>Aag p.E628K ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.E645K|ABCB8_ENST00000542328.1_Missense_Mutation_p.E540K|ABCB8_ENST00000498578.1_Missense_Mutation_p.E628K NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 645 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTGGATGCAGAGTCCGAGCG 0.667000 6 22 0 0 0.001984 0 0 PDHX 8050 broad.mit.edu 37 11 34988327 34988327 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:34988327C>T ENST00000448838.3 + 6 979 c.737C>T c.(736-738)cCa>cTa p.P246L PDHX_ENST00000227868.4_Missense_Mutation_p.P261L|PDHX_ENST00000430469.2_Intron NM_001135024.1|NM_003477.2 NP_001128496.1|NP_003468.2 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 261 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) CCTGTGATCCCACCAGTATCA 0.488000 24 41 0 0 0.003954 0 0 NRXN2 9379 broad.mit.edu 37 11 64390422 64390422 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:64390422C>T ENST00000265459.6 - 21 4437 c.3976G>A c.(3976-3978)Gag>Aag p.E1326K NRXN2_ENST00000409571.1_Missense_Mutation_p.E1319K|NRXN2_ENST00000301894.2_Missense_Mutation_p.E280K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E1256K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E1326K NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1326 Laminin G-like 6. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GGGTCGCTCTCGGCGGCCAGC 0.706000 19 5 0 0 0.007413 0 0 ELTD1 64123 broad.mit.edu 37 1 79412073 79412073 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:79412073C>T ENST00000370742.3 - 3 274 c.211G>A c.(211-213)Gaa>Aaa p.E71K NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 71 EGF-like 2; calcium-binding (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTAGCATTTTCGCCACAGGAC 0.323000 18 11 0 0 0.001523 0 0 WDR76 79968 broad.mit.edu 37 15 44158387 44158387 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:44158387G>A ENST00000263795.6 + 13 1748 c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.E496K NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 560 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) TCCTAAACAAGAAGACTGTGT 0.458000 16 54 0 0 0.004007 0 0 GSTT1 2952 broad.mit.edu 37 22 24379500 24379500 + Missense_Mutation SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:24379500A>G ENST00000248935.5 - 3 264 c.212T>C c.(211-213)cTg>cCg p.L71P GSTT1_ENST00000439996.2_5'UTR NM_000853.2 NP_000844.2 P30711 GSTT1_HUMAN glutathione S-transferase theta 1 71 GST N-terminal. glutathione metabolic process cytosol|soluble fraction glutathione peroxidase activity|glutathione transferase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1) 6 Glutathione(DB00143) CAGGTAGAGCAGGATGGCCAC 0.537000 Myelodysplasia and Acute Myeloid Leukemia (AML), Familial 16 72 0 0 0.004007 0 0 PLXNA3 55558 broad.mit.edu 37 X 153694349 153694349 + Missense_Mutation SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chrX:153694349G>T ENST00000369682.3 + 14 2779 c.2604G>T c.(2602-2604)ttG>ttT p.L868F NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 868 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGGCCTCTTGTCCCGAGAGG 0.652000 39 15 2.24893e-16 4.17849e-16 0.002222 1 0 ZNF346 23567 broad.mit.edu 37 5 176477792 176477792 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr5:176477792C>A ENST00000503039.1 + 6 637 c.633C>A c.(631-633)ttC>ttA p.F211L ZNF346_ENST00000506693.1_Missense_Mutation_p.F88L|ZNF346_ENST00000503425.1_Missense_Mutation_p.F154L|ZNF346_ENST00000358149.3_Missense_Mutation_p.F186L|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000511834.1_Missense_Mutation_p.F202L|ZNF346_ENST00000261948.4_Missense_Mutation_p.F211L Q9UL40 ZN346_HUMAN zinc finger protein 346 186 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding p.F186L(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGACAAGTTCTGCAGCCTCT 0.478000 13 44 1.49906e-05 2.57216e-05 0.002450 1 0 KIAA0100 9703 broad.mit.edu 37 17 26960318 26960318 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:26960318G>A ENST00000528896.2 - 19 3641 c.3567C>T c.(3565-3567)aaC>aaT p.N1189N KIAA0100_ENST00000544884.1_Silent_p.N1046N|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.N1046N NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1189 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CTGTTCTCACGTTGATATCCA 0.512000 26 123 0 0 0.003954 0 0 MDN1 23195 broad.mit.edu 37 6 90434920 90434920 + Nonsense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:90434920G>A ENST00000369393.3 - 38 5783 c.5668C>T c.(5668-5670)Cag>Tag p.Q1890* MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q1890* Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1890 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) AATCTTACCTGAGTGAATCTG 0.423000 18 68 0 0 0.006122 0 0 ITPKB 3707 broad.mit.edu 37 1 226923395 226923395 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:226923395G>A ENST00000429204.1 - 2 2092 c.1765C>T c.(1765-1767)Cct>Tct p.P589S ITPKB_ENST00000272117.3_Missense_Mutation_p.P589S|ITPKB_ENST00000366784.1_Missense_Mutation_p.P589S NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 589 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) TTGCCCCGAGGGCTTCCCTGC 0.597000 11 35 0 0 0.008291 0 0 NAGA 4668 broad.mit.edu 37 22 42463795 42463795 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:42463795G>C ENST00000396398.3 - 3 830 c.298C>G c.(298-300)Cat>Gat p.H100D NAGA_ENST00000403363.1_Missense_Mutation_p.H100D|NAGA_ENST00000402937.1_Missense_Mutation_p.H100D NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 100 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GGAATGCCATGAGGGAAGCGC 0.607000 17 99 0 0 0.004990 0 0 NELL2 4753 broad.mit.edu 37 12 44913891 44913891 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:44913891C>G ENST00000429094.2 - 19 2801 c.2297G>C c.(2296-2298)cGc>cCc p.R766P NELL2_ENST00000551601.1_Missense_Mutation_p.R718P|NELL2_ENST00000395487.2_Missense_Mutation_p.R765P|NELL2_ENST00000333837.4_Missense_Mutation_p.R789P|NELL2_ENST00000437801.2_Missense_Mutation_p.R816P|NELL2_ENST00000452445.2_Missense_Mutation_p.R766P|NELL2_ENST00000549027.1_Missense_Mutation_p.R765P NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 766 VWFC 5. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GATGTCATTGCGGATGGTGTC 0.552000 10 74 0 0 0.000978 0 0 KLHL2 11275 broad.mit.edu 37 4 166231784 166231784 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:166231784C>T ENST00000226725.6 + 10 1378 c.1119C>T c.(1117-1119)taC>taT p.Y373Y KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Silent_p.Y377Y|KLHL2_ENST00000506761.1_Silent_p.Y207Y|KLHL2_ENST00000538127.1_Silent_p.Y285Y|KLHL2_ENST00000421009.2_Silent_p.Y276Y NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 373 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) TAGATTCCTACGACCCTGTGA 0.478000 94 394 0 0 0.003610 0 0 DAG1 1605 broad.mit.edu 37 3 49570156 49570156 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:49570156G>C ENST00000545947.1 + 6 2934 c.2212G>C c.(2212-2214)Gac>Cac p.D738H DAG1_ENST00000541308.1_Missense_Mutation_p.D738H|DAG1_ENST00000538711.1_Missense_Mutation_p.D738H|DAG1_ENST00000515359.2_Missense_Mutation_p.D738H|DAG1_ENST00000539901.1_Missense_Mutation_p.D738H|DAG1_ENST00000308775.2_Missense_Mutation_p.D738H NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 738 cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AGAAGTGCCTGACAGGGACCC 0.592000 6 18 0 0 0.001168 0 0 PPEF2 5470 broad.mit.edu 37 4 76794404 76794404 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:76794404C>T ENST00000286719.7 - 12 1738 c.1382G>A c.(1381-1383)cGa>cAa p.R461Q NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 461 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GCCTCCTCCTCGAATAGTGTT 0.458000 41 32 0 0 0.002522 0 0 KCNS3 3790 broad.mit.edu 37 2 18112572 18112572 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:18112572C>T ENST00000403915.1 + 3 748 c.297C>T c.(295-297)ttC>ttT p.F99F KCNS3_ENST00000304101.4_Silent_p.F99F|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 99 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TATTCTCATTCTGCCAGGAGA 0.468000 37 77 0 0 0.006230 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179294796 179294796 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr5:179294796C>T ENST00000356834.3 - 18 2882 c.2845G>A c.(2845-2847)Gag>Aag p.E949K TBC1D9B_ENST00000519746.1_Missense_Mutation_p.E125K|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E949K|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.E107K NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 949 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGCTGTCCTCTGTGAAATAA 0.632000 8 15 0 0 0.006214 0 0 OR4C46 119749 broad.mit.edu 37 11 51516007 51516007 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:51516007C>T ENST00000328188.1 + 1 726 c.726C>T c.(724-726)atC>atT p.I242I NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TCTCCCACATCACGGTTGTCA 0.468000 23 45 0 0 0.003330 0 0 CEP85L 387119 broad.mit.edu 37 6 118887087 118887087 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:118887087C>G ENST00000368491.3 - 3 1246 c.625G>C c.(625-627)Gag>Cag p.E209Q CEP85L_ENST00000419517.2_Missense_Mutation_p.E209Q|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.E212Q|CEP85L_ENST00000360290.3_Missense_Mutation_p.E107Q|CEP85L_ENST00000392500.3_Missense_Mutation_p.E212Q NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 209 centrosome CTAAGCATCTCCATACTATCA 0.413000 4 157 0 0 0.000248 0 0 FAM19A5 25817 broad.mit.edu 37 22 49042418 49042418 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:49042418C>T ENST00000358295.5 + 2 276 c.101C>T c.(100-102)gCc>gTc p.A34V FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.A41V NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 41 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) GGTCAGCTGGCCGCCGGCACC 0.677000 21 47 0 0 0.002780 0 0 CALCR 799 broad.mit.edu 37 7 93055850 93055850 + Nonsense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:93055850G>A ENST00000359558.2 - 16 1644 c.1345C>T c.(1345-1347)Cag>Tag p.Q449* CALCR_ENST00000421592.1_Nonsense_Mutation_p.Q431*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.Q431*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.Q415*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.Q415* NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 431 Poly-Ala. activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CCCCAACGCTGGTTCCACTGA 0.547000 45 71 0 0 0.003610 0 0 MYLK 4638 broad.mit.edu 37 3 123452859 123452859 + Silent SNP C C T rs115018449 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:123452859C>T ENST00000360772.3 - 11 1362 c.984G>A c.(982-984)tcG>tcA p.S328S MYLK_ENST00000359169.1_Silent_p.S328S|MYLK_ENST00000346322.5_Silent_p.S328S|MYLK_ENST00000475616.1_Silent_p.S328S|MYLK_ENST00000360304.3_Silent_p.S328S Q15746 MYLK_HUMAN myosin light chain kinase 328 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCGTTCTGGGCGAGTCCTTGC 0.647000 17 110 0 0 0.004990 0 0 CDK19 23097 broad.mit.edu 37 6 111067348 111067348 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:111067348G>A ENST00000368911.3 - 2 364 c.185C>T c.(184-186)tCg>tTg p.S62L CDK19_ENST00000323817.3_Missense_Mutation_p.S2L NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 62 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 TCTACAAGCCGACATGGATAT 0.279000 9 109 0 0 0.006214 0 0 ATP13A3 79572 broad.mit.edu 37 3 194167697 194167697 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:194167697T>C ENST00000439040.1 - 14 2247 c.1456A>G c.(1456-1458)Ata>Gta p.I486V ATP13A3_ENST00000256031.4_Missense_Mutation_p.I486V Q9H7F0 AT133_HUMAN ATPase type 13A3 486 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CAAATATTTATTCTTTGAGGA 0.383000 51 106 0 0 0.003610 0 0 BRINP3 339479 broad.mit.edu 37 1 190068199 190068199 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:190068199C>T ENST00000367462.3 - 8 1481 c.1250G>A c.(1249-1251)gGc>gAc p.G417D FAM5C_ENST00000534846.1_Missense_Mutation_p.G315D|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 417 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGAAAAGCTGCCTAGGAGGCC 0.517000 4 42 0 0 0.000248 0 0 ABCC5 10057 broad.mit.edu 37 3 183707056 183707056 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:183707056T>C ENST00000334444.6 - 3 485 c.245A>G c.(244-246)cAt>cGt p.H82R ABCC5_ENST00000382494.2_Missense_Mutation_p.H82R|ABCC5_ENST00000392579.2_Missense_Mutation_p.H82R|ABCC5_ENST00000265586.6_Missense_Mutation_p.H82R|ABCC5_ENST00000427120.2_Missense_Mutation_p.H82R NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 82 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CAAGCCATGATGGTACTTTCC 0.502000 23 54 0 0 0.002780 0 0 VPS53 55275 broad.mit.edu 37 17 617910 617910 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:617910C>G ENST00000437048.2 - 1 186 c.40G>C c.(40-42)Gaa>Caa p.E14Q VPS53_ENST00000571805.1_Missense_Mutation_p.E14Q|VPS53_ENST00000401468.3_Missense_Mutation_p.E14Q|VPS53_ENST00000291074.5_Missense_Mutation_p.E14Q|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Missense_Mutation_p.E14Q NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 14 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) AGCACGGCTTCCAGCTCCTCC 0.701000 16 99 0 0 0.003163 0 0 UNC5B 219699 broad.mit.edu 37 10 73050851 73050851 + Missense_Mutation SNP A A C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr10:73050851A>C ENST00000335350.6 + 9 1695 c.1279A>C c.(1279-1281)Aag>Cag p.K427Q UNC5B_ENST00000373192.4_Missense_Mutation_p.K416Q NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 427 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CGTCAACTTTAAGACGGCAAG 0.607000 19 178 0 0 0.002780 0 0 DEFB127 140850 broad.mit.edu 37 20 139650 139650 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:139650G>A ENST00000382388.3 + 2 360 c.285G>A c.(283-285)aaG>aaA p.K95K NM_139074.3 NP_620713.1 Q9H1M4 DB127_HUMAN defensin, beta 127 95 defense response to bacterium|innate immune response extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) CAAGCCTGAAGACACAGTCTA 0.353000 8 30 0 0 0.004482 0 0 PEX26 55670 broad.mit.edu 37 22 18570779 18570779 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:18570779C>T ENST00000329627.6 + 6 1062 c.856C>T c.(856-858)Ctc>Ttc p.L286F PEX26_ENST00000428061.2_Missense_Mutation_p.L237F|PEX26_ENST00000399744.3_Missense_Mutation_p.L286F NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 286 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GCTGGCCCAGCTCTTCCGCTG 0.617000 98 192 0 0 0.003610 0 0 SPOCK3 50859 broad.mit.edu 37 4 167675844 167675844 + Nonsense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:167675844G>C ENST00000357154.3 - 9 892 c.755C>G c.(754-756)tCa>tGa p.S252* SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.S209*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.S252*|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000541637.1_Nonsense_Mutation_p.S154*|SPOCK3_ENST00000512681.1_Nonsense_Mutation_p.S154*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000421836.2_Nonsense_Mutation_p.S201*|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.S252*|SPOCK3_ENST00000541354.1_Nonsense_Mutation_p.S132*|SPOCK3_ENST00000534949.1_Nonsense_Mutation_p.S156*|SPOCK3_ENST00000535728.1_Nonsense_Mutation_p.S120*|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.S252* NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 252 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CCAGCCAAGTGAGTCCTTGCA 0.373000 16 65 0 0 0.006122 0 0 MAB21L1 4081 broad.mit.edu 37 13 36050072 36050072 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:36050072G>A ENST00000379919.4 - 1 760 c.204C>T c.(202-204)gtC>gtT p.V68V NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 68 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) TGGGGGAGATGACCTCGAGGC 0.552000 24 64 0 0 0.003330 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42134775 42134775 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:42134775G>A ENST00000382448.4 + 15 1431 c.1422G>A c.(1420-1422)ctG>ctA p.L474L PLA2G4B_ENST00000452633.1_Silent_p.L243L|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.L243L|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L474L NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 243 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 GAGTGGAGCTGAAAAAAGAAG 0.627000 7 38 0 0 0.001984 0 0 ITGA7 3679 broad.mit.edu 37 12 56087845 56087845 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:56087845G>A ENST00000257880.7 - 20 2846 c.2627C>T c.(2626-2628)tCt>tTt p.S876F ITGA7_ENST00000394230.2_Missense_Mutation_p.S836F|ITGA7_ENST00000394229.2_Missense_Mutation_p.S832F|ITGA7_ENST00000555728.1_Missense_Mutation_p.S876F|ITGA7_ENST00000452168.2_Missense_Mutation_p.S739F|ITGA7_ENST00000553804.1_Missense_Mutation_p.S836F|ITGA7_ENST00000257879.6_Missense_Mutation_p.S832F|ITGA7_ENST00000347027.6_Missense_Mutation_p.S826F Q13683 ITA7_HUMAN integrin, alpha 7 876 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 ATCCCGCTCAGACTGCATGGC 0.592000 4 21 0 0 0.000248 0 0 DOCK9 23348 broad.mit.edu 37 13 99476728 99476728 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:99476728C>A ENST00000376460.1 - 46 5134 c.5054G>T c.(5053-5055)aGg>aTg p.R1685M DOCK9_ENST00000339416.2_Missense_Mutation_p.R1686M|DOCK9_ENST00000448493.2_3'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1686 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGTAATGACCCTGAAGGCGGT 0.542000 30 85 9.65021e-13 1.73152e-12 0.002096 1 0 GPR179 440435 broad.mit.edu 37 17 36482452 36482452 + Nonsense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:36482452C>A ENST00000342292.4 - 11 7020 c.7000G>T c.(7000-7002)Gag>Tag p.E2334* GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2334 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GACTGAGACTCAGCTTCCTGG 0.507000 29 135 1.75199e-13 3.19839e-13 0.007291 1 0 C2CD2 25966 broad.mit.edu 37 21 43338269 43338269 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr21:43338269G>C ENST00000380486.3 - 5 906 c.665C>G c.(664-666)tCt>tGt p.S222C C2CD2_ENST00000329623.7_Missense_Mutation_p.S67C NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 222 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 TGGAGAGGCAGAACCAGCCAA 0.512000 31 46 0 0 0.002445 0 0 KCNS3 3790 broad.mit.edu 37 2 18113212 18113212 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:18113212C>T ENST00000403915.1 + 3 1388 c.937C>T c.(937-939)Cta>Tta p.L313L KCNS3_ENST00000304101.4_Silent_p.L313L|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 313 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ACTTCGGTCTCTAGGTGCCAC 0.498000 44 103 0 0 0.002222 0 0 NIPAL1 152519 broad.mit.edu 37 4 48036925 48036925 + Silent SNP C C T rs138156539 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:48036925C>T ENST00000295461.5 + 5 555 c.489C>T c.(487-489)aaC>aaT p.N163N NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 163 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 ACTTTTTAAACGAGCACTTGA 0.383000 23 26 0 0 0.005443 0 0 PCCA 5095 broad.mit.edu 37 13 100982841 100982841 + Nonsense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:100982841C>T ENST00000376285.1 + 17 1494 c.1456C>T c.(1456-1458)Cga>Tga p.R486* PCCA_ENST00000376279.3_Nonsense_Mutation_p.R486*|PCCA_ENST00000376286.4_Nonsense_Mutation_p.R460* NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 486 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TGCATTACTTCGAGAGGTGAT 0.323000 5 31 0 0 0.000602 0 0 PTCH1 5727 broad.mit.edu 37 9 98218642 98218642 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:98218642G>A ENST00000430669.2 - 19 3609 c.3024C>T c.(3022-3024)atC>atT p.I1008I PTCH1_ENST00000418258.1_Silent_p.I923I|PTCH1_ENST00000437951.1_Silent_p.I1008I|PTCH1_ENST00000375274.2_Silent_p.I1073I|PTCH1_ENST00000421141.1_Silent_p.I923I|PTCH1_ENST00000429896.2_Silent_p.I923I|PTCH1_ENST00000331920.6_Silent_p.I1074I Q13635 PTC1_HUMAN patched 1 1074 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.V1057_L1102del(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GCTTGATTCCGATGAGGCCCA 0.587000 29 36 0 0 0.006320 0 0 MYO1H 283446 broad.mit.edu 37 12 109863801 109863801 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:109863801C>G ENST00000310903.5 + 18 1834 c.1728C>G c.(1726-1728)atC>atG p.I576M MYO1H_ENST00000431443.2_Missense_Mutation_p.I586M B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 AAACCCTCATCTCTAAGGAGC 0.502000 12 38 0 0 0.004007 0 0 OR4F4 26682 broad.mit.edu 37 15 102462360 102462360 + Silent SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:102462360A>G ENST00000326183.3 - 1 938 c.903T>C c.(901-903)tcT>tcC p.S301S NM_001004195.2 NP_001004195.2 Q96R69 OR4F4_HUMAN olfactory receptor, family 4, subfamily F, member 4 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) ACTTTACACTAGAATGTGCAT 0.343000 23 267 0 0 0.003330 0 0 PCDH20 64881 broad.mit.edu 37 13 61987588 61987588 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:61987588G>A ENST00000409186.1 - 5 2749 c.644C>T c.(643-645)tCg>tTg p.S215L PCDH20_ENST00000409204.4_Missense_Mutation_p.S215L Q8N6Y1 PCD20_HUMAN protocadherin 20 188 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GACCCACACCGAGATCTGGGA 0.532000 18 63 0 0 0.008871 0 0 AKAP12 9590 broad.mit.edu 37 6 151672232 151672232 + Silent SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:151672232A>G ENST00000402676.2 + 4 2946 c.2706A>G c.(2704-2706)gcA>gcG p.A902A AKAP12_ENST00000253332.1_Silent_p.A902A|AKAP12_ENST00000354675.6_Silent_p.A804A|AKAP12_ENST00000359755.5_Silent_p.A797A NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 902 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GGACGAGGGCAGCTACCATTA 0.532000 19 52 0 0 0.008871 0 0 POLE 5426 broad.mit.edu 37 12 133245062 133245062 + Missense_Mutation SNP G G A rs116326665 by1000genomes TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:133245062G>A ENST00000320574.5 - 19 2096 c.2053C>T c.(2053-2055)Cgg>Tgg p.R685W POLE_ENST00000535270.1_Missense_Mutation_p.R658W NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 685 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGCTGGATCCGATGGTATTCG 0.592000 DNA polymerases (catalytic subunits) 41 85 0 0 0.008740 0 0 SMARCA2 6595 broad.mit.edu 37 9 2182188 2182188 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:2182188G>C ENST00000382203.1 + 31 4616 c.4407G>C c.(4405-4407)aaG>aaC p.K1469N SMARCA2_ENST00000302401.3_Missense_Mutation_p.K157N|SMARCA2_ENST00000382186.1_Missense_Mutation_p.K133N|SMARCA2_ENST00000324954.5_Missense_Mutation_p.K115N|SMARCA2_ENST00000382185.1_Missense_Mutation_p.K115N|SMARCA2_ENST00000382194.1_Missense_Mutation_p.K1451N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.K1451N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.K1469N P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1469 Bromo. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ACCTGGAGAAGGATGTCATGC 0.438000 39 508 0 0 0.006999 0 0 SIM1 6492 broad.mit.edu 37 6 100911241 100911241 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:100911241G>A ENST00000369208.3 - 2 886 c.104C>T c.(103-105)tCg>tTg p.S35L SIM1_ENST00000262901.4_Missense_Mutation_p.S35L P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 35 Helix-loop-helix motif. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTCCAGCTGCGAGGTGATAGC 0.453000 15 58 0 0 0.003163 0 0 MEP1A 4224 broad.mit.edu 37 6 46801214 46801214 + Missense_Mutation SNP T T A rs142787710 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:46801214T>A ENST00000230588.4 + 11 1557 c.1548T>A c.(1546-1548)gaT>gaA p.D516E NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 516 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) AGGAGCCTGATGTCCGGAACA 0.517000 15 141 0 0 0.006122 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99448936 99448936 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:99448936G>A ENST00000397899.2 - 5 746 c.415C>T c.(415-417)Cct>Tct p.P139S KIAA1211L_ENST00000462314.1_5'UTR NM_207362.2 NP_997245.2 KIAA1211-like CCCCCTGGAGGAGGTGGTGGC 0.502000 24 48 0 0 0.002780 0 0 BAG4 9530 broad.mit.edu 37 8 38034583 38034583 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:38034583G>A ENST00000287322.4 + 1 467 c.196G>A c.(196-198)Ggc>Agc p.G66S BAG4_ENST00000432471.2_Missense_Mutation_p.G66S|BAG4_ENST00000521282.1_3'UTR NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 66 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) GCTGGGAGAAGGCGGAGGAGG 0.672000 8 16 0 0 0.003080 0 0 APMAP 57136 broad.mit.edu 37 20 24944531 24944531 + Missense_Mutation SNP T T G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:24944531T>G ENST00000217456.2 - 9 1459 c.1169A>C c.(1168-1170)gAg>gCg p.E390A APMAP_ENST00000447138.1_3'UTR NM_020531.2 NP_065392.1 adipocyte plasma membrane associated protein TTCGTGCACCTCGCTGATGTA 0.612000 52 57 0 0 0.003610 0 0 LRP2 4036 broad.mit.edu 37 2 170009390 170009390 + Missense_Mutation SNP C C T rs142934522 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:170009390C>T ENST00000263816.3 - 67 12665 c.12380G>A c.(12379-12381)cGc>cAc p.R4127H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4127 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.R4127H(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAGATTATTGCGGCCGGATTC 0.473000 94 245 0 0 0.003610 0 0 APOL1 8542 broad.mit.edu 37 22 36657700 36657700 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:36657700G>A ENST00000319136.4 + 6 561 c.294G>A c.(292-294)caG>caA p.Q98Q APOL1_ENST00000426053.1_Silent_p.Q64Q|APOL1_ENST00000397278.3_Silent_p.Q82Q|APOL1_ENST00000397279.4_Silent_p.Q82Q|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000422706.1_Silent_p.Q82Q NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 82 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 TGAGCACACAGAATCTGCTAC 0.473000 18 58 0 0 0.008871 0 0 GRHL2 79977 broad.mit.edu 37 8 102585906 102585906 + Nonsense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:102585906C>T ENST00000251808.3 + 6 1083 c.745C>T c.(745-747)Cag>Tag p.Q249* GRHL2_ENST00000395927.1_Nonsense_Mutation_p.Q233* NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 249 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TGGCACATTTCAGTACACCCT 0.473000 44 62 0 0 0.002522 0 0 MTUS1 57509 broad.mit.edu 37 8 17611659 17611659 + Missense_Mutation SNP A A C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:17611659A>C ENST00000381869.3 - 2 2131 c.1658T>G c.(1657-1659)tTg>tGg p.L553W MTUS1_ENST00000381862.3_Missense_Mutation_p.L553W|MTUS1_ENST00000519263.1_Missense_Mutation_p.L553W|MTUS1_ENST00000262102.6_Missense_Mutation_p.L553W NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 553 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) TGTTCTGCTCAAGACTGTTTG 0.428000 39 148 0 0 0.006230 0 0 TIA1 7072 broad.mit.edu 37 2 70444000 70444000 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:70444000C>G ENST00000416149.2 - 8 624 c.601G>C c.(601-603)Gaa>Caa p.E201Q TIA1_ENST00000445587.1_Intron|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000415783.2_Intron|TIA1_ENST00000282574.4_Intron|TIA1_ENST00000482876.1_Intron|TIA1_ENST00000433529.2_Intron P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding protein 303 apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 17 ATTTCCTTTTCTTCTCCAATA 0.428000 62 306 0 0 0.003610 0 0 NLRP8 126205 broad.mit.edu 37 19 56459551 56459551 + Nonsense_Mutation SNP C C T rs145469757 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr19:56459551C>T ENST00000291971.3 + 1 354 c.283C>T c.(283-285)Cga>Tga p.R95* NLRP8_ENST00000590542.1_Nonsense_Mutation_p.R95* NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 95 DAPIN. cytoplasm ATP binding p.R95*(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTTCCCTGGACGACGCGCTTG 0.512000 13 26 0 0 0.001855 0 0 LAMC1 3915 broad.mit.edu 37 1 183086740 183086740 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:183086740G>C ENST00000258341.4 + 10 2016 c.1759G>C c.(1759-1761)Gat>Cat p.D587H NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 587 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGACAGGCGAGATACTCGCCT 0.507000 67 43 0 0 0.003610 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42132977 42132977 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:42132977C>T ENST00000382448.4 + 9 927 c.918C>T c.(916-918)gtC>gtT p.V306V PLA2G4B_ENST00000452633.1_Silent_p.V75V|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.V75V|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.V306V NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 75 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 TCCAGAATGTCATGGAACTGA 0.592000 20 62 0 0 0.001882 0 0 TEC 7006 broad.mit.edu 37 4 48172263 48172263 + Splice_Site SNP A A C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:48172263A>C ENST00000381501.3 - 5 612 c.e5+1 NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 ATGAATACTTACTGCTCTCAA 0.318000 16 50 0 0 0.004007 0 0 HIP1 3092 broad.mit.edu 37 7 75172195 75172195 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:75172195G>A ENST00000336926.6 - 28 2891 c.2865C>T c.(2863-2865)tcC>tcT p.S955S HIP1_ENST00000434438.2_Silent_p.S904S NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 955 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GTGATTTGCCGGAAATGGTTG 0.562000 T PDGFRB CMML 4 98 0 0 0.000248 0 0 PPHLN1 51535 broad.mit.edu 37 12 42792759 42792759 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:42792759C>G ENST00000432191.2 + 8 779 c.707C>G c.(706-708)tCt>tGt p.S236C PPHLN1_ENST00000549190.1_Missense_Mutation_p.S309C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S291C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.S243C|PPHLN1_ENST00000256678.8_Missense_Mutation_p.S171C|PPHLN1_ENST00000337898.6_Missense_Mutation_p.S236C|PPHLN1_ENST00000317560.9_Missense_Mutation_p.S224C|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S272C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S298C|PPHLN1_ENST00000395568.2_Missense_Mutation_p.S291C NM_001143787.1 NP_001137259.1 Q8NEY8 PPHLN_HUMAN periphilin 1 291 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) ACCACTCGCTCTAAAGCAATA 0.393000 21 43 0 0 0.001882 0 0 FRMPD1 22844 broad.mit.edu 37 9 37731065 37731065 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:37731065G>A ENST00000539465.1 + 9 1416 c.823G>A c.(823-825)Gaa>Aaa p.E275K FRMPD1_ENST00000536622.1_Missense_Mutation_p.E97K|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E275K|FRMPD1_ENST00000541302.1_Missense_Mutation_p.E144K|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 275 FERM. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CCTCCTGAAAGAAGACCCCGT 0.517000 35 244 0 0 0.003755 0 0 EIF2B1 1967 broad.mit.edu 37 12 124107222 124107222 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:124107222G>A ENST00000539951.1 - 6 625 c.599C>T c.(598-600)tCt>tTt p.S200F EIF2B1_ENST00000424014.2_Silent_p.L238L Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 0 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) TTAGTGGAAAGAGCCGGACAA 0.418000 16 79 0 0 0.004007 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 4 26 0 0 0.000248 0 0 HK3 3101 broad.mit.edu 37 5 176308438 176308438 + Missense_Mutation SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr5:176308438G>T ENST00000292432.5 - 18 2583 c.2492C>A c.(2491-2493)gCt>gAt p.A831D NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 831 Catalytic. A -> V (in Ref. 4; AAC50422). glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGACACAGCCTGGCACAC 0.652000 3 21 6.4e-05 0.000108627 0.004672 1 0 RCBTB1 55213 broad.mit.edu 37 13 50123786 50123786 + Splice_Site SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:50123786T>C ENST00000378302.2 - 9 1115 c.e9-2 RCBTB1_ENST00000258646.3_Splice_Site|RCBTB1_ENST00000546015.1_Splice_Site NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) TCTACCACCCTGAAAAGTTTT 0.502000 3 60 0 0 0.004672 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184841 130184841 + Missense_Mutation SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:130184841G>T ENST00000422113.2 - 2 808 c.482C>A c.(481-483)gCc>gAc p.A161D NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 161 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTTCTCCCCGGCGCTGCGGTC 0.642000 7 24 8.12818e-05 0.000137218 0.001984 1 0 NBPF10 100132406 broad.mit.edu 37 1 145368630 145368630 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:145368630G>A ENST00000342960.5 + 84 10643 c.10608G>A c.(10606-10608)ttG>ttA p.L3536L NBPF10_ENST00000369338.1_Silent_p.L652L|NBPF10_ENST00000369339.2_Silent_p.L654L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3536 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTTTACTTTGACGGTGACAA 0.463000 44 311 0 0 0.003610 0 0 CHAD 1101 broad.mit.edu 37 17 48542772 48542772 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:48542772C>T ENST00000508540.1 - 3 1119 c.967G>A c.(967-969)Gat>Aat p.D323N ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.D323N|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 323 LRRCT. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CAGGTGGCATCTGGGCGGGAG 0.617000 12 52 0 0 0.000978 0 0 TTC21B 79809 broad.mit.edu 37 2 166764213 166764213 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:166764213C>A ENST00000243344.7 - 19 2680 c.2543G>T c.(2542-2544)gGt>gTt p.G848V NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 848 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 GATCGCATCACCAAGTTTTTC 0.393000 17 36 2.37509e-13 4.31086e-13 0.001523 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 44 0 0 0.004672 0 0 CD97 976 broad.mit.edu 37 19 14512333 14512333 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr19:14512333C>T ENST00000242786.5 + 10 1113 c.1033C>T c.(1033-1035)Ctg>Ttg p.L345L CD97_ENST00000358600.3_Silent_p.L252L|CD97_ENST00000357355.3_Silent_p.L296L NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 345 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GGCCAAGAGCCTGCCTAAAGG 0.622000 7 51 0 0 0.001984 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021432 51021432 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr19:51021432G>A ENST00000599957.1 - 3 1735 c.1538C>T c.(1537-1539)cCg>cTg p.P513L LRRC4B_ENST00000389201.3_Missense_Mutation_p.P513L Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 513 Gly-rich. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GGGCCCTGGCGGTTCCTTCTC 0.736000 6 15 0 0 0.001984 0 0 ZNFX1 57169 broad.mit.edu 37 20 47870298 47870298 + Missense_Mutation SNP T T A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:47870298T>A ENST00000396105.1 - 11 3256 c.3010A>T c.(3010-3012)Ata>Tta p.I1004L ZNFX1_ENST00000371752.1_Missense_Mutation_p.I1004L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.I1004L NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1004 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCTTCCACTATGACAATCCTC 0.527000 109 213 0 0 0.003610 0 0 MYH8 4626 broad.mit.edu 37 17 10296300 10296300 + Nonsense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:10296300C>A ENST00000403437.2 - 37 5405 c.5311G>T c.(5311-5313)Gag>Tag p.E1771* CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1771 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTCTTCAGCTCCTCAGCCATC 0.483000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 36 147 6.70999e-13 1.21088e-12 0.004289 1 0 NFE2L3 9603 broad.mit.edu 37 7 26225363 26225363 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:26225363C>T ENST00000056233.3 + 4 2304 c.2045C>T c.(2044-2046)tCa>tTa p.S682L NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 682 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 CTGGTGGCCTCAGGCCACAAA 0.418000 13 41 0 0 0.001368 0 0 DHRS2 10202 broad.mit.edu 37 14 24114362 24114362 + Nonsense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr14:24114362C>G ENST00000250383.6 + 9 1219 c.743C>G c.(742-744)tCa>tGa p.S248* DHRS2_ENST00000344777.7_Missense_Mutation_p.Q252E NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 226 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) ATTGGGGAGTCAGAGGACTGT 0.567000 33 111 0 0 0.004289 0 0 GDF5 8200 broad.mit.edu 37 20 34025402 34025402 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:34025402C>T ENST00000374372.1 - 3 810 c.307G>A c.(307-309)Ggc>Agc p.G103S GDF5_ENST00000374369.3_Missense_Mutation_p.G103S P43026 GDF5_HUMAN growth differentiation factor 5 103 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGTTCAGGGCCGCCCGGTCTG 0.632000 29 46 0 0 0.002096 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:178098810C>G ENST00000397062.3 - 2 789 c.235G>C c.(235-237)Gag>Cag p.E79Q NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E79K(10)|p.E79Q(10) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 39 75 0 0 0.007835 0 0 SEPT9 10801 broad.mit.edu 37 17 75484325 75484325 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:75484325T>C ENST00000329047.8 + 5 1804 c.992T>C c.(991-993)aTt>aCt p.I331T SEPT9_ENST00000585930.1_Missense_Mutation_p.I125T|SEPT9_ENST00000427180.1_Missense_Mutation_p.I237T|SEPT9_ENST00000423034.2_Missense_Mutation_p.I342T|SEPT9_ENST00000592951.1_Missense_Mutation_p.I98T|SEPT9_ENST00000591198.1_Missense_Mutation_p.I330T|SEPT9_ENST00000588690.1_Missense_Mutation_p.I185T|SEPT9_ENST00000590294.1_Missense_Mutation_p.I331T|SEPT9_ENST00000591088.1_Missense_Mutation_p.I98T|SEPT9_ENST00000427674.2_Missense_Mutation_p.I185T|SEPT9_ENST00000541152.2_Missense_Mutation_p.I98T|SEPT9_ENST00000427177.1_Missense_Mutation_p.I349T|SEPT9_ENST00000431235.2_Missense_Mutation_p.I185T|SEPT9_ENST00000449803.2_Missense_Mutation_p.I185T|SEPT9_ENST00000592481.1_3'UTR NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 349 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) TGTGCAGATATTGAGGAGAAA 0.612000 27 42 0 0 0.005443 0 0 TLE4 7091 broad.mit.edu 37 9 82187743 82187743 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:82187743G>A ENST00000376520.4 + 1 866 c.38G>A c.(37-39)aGa>aAa p.R13K TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.R13K|TLE4_ENST00000376544.3_Missense_Mutation_p.R13K|TLE4_ENST00000376552.2_Missense_Mutation_p.R13K|TLE4_ENST00000265284.6_Missense_Mutation_p.R13K O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CCGCAGACCAGACACCCAGTG 0.672000 8 41 0 0 0.003080 0 0 HPS3 84343 broad.mit.edu 37 3 148880010 148880010 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:148880010G>A ENST00000296051.2 + 12 2322 c.2182G>A c.(2182-2184)Gag>Aag p.E728K HPS3_ENST00000460120.1_Missense_Mutation_p.E563K NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 728 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TGTTCCAACCGAGCTTGCACT 0.428000 Hermansky-Pudlak syndrome 15 88 0 0 0.002450 0 0 VPS33A 65082 broad.mit.edu 37 12 122723220 122723220 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:122723220C>A ENST00000267199.4 - 10 1328 c.1216G>T c.(1216-1218)Gtg>Ttg p.V406L RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.V367L NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 406 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGTCTTAACACCTTGATCAAC 0.343000 61 124 3.13765e-25 5.93508e-25 0.003610 1 0 KDM7A 80853 broad.mit.edu 37 7 139829433 139829433 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:139829433T>C ENST00000397560.2 - 4 516 c.419A>G c.(418-420)aAg>aGg p.K140R JHDM1D_ENST00000006967.5_Missense_Mutation_p.K140R NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 140 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) GCCATGCATCTTTATAATTAT 0.353000 24 47 0 0 0.002780 0 0 RBM38 55544 broad.mit.edu 37 20 55982844 55982844 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:55982844C>T ENST00000356208.5 + 4 837 c.662C>T c.(661-663)gCg>gTg p.A221V RBM38_ENST00000371219.2_Missense_Mutation_p.A140V NM_017495.5 NP_059965.2 Q9H0Z9 RBM38_HUMAN RNA binding motif protein 38 221 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) GCAGCACCCGCGGGCACCACT 0.682000 3 10 0 0 0.004672 0 0 HACL1 26061 broad.mit.edu 37 3 15642612 15642612 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:15642612C>G ENST00000321169.5 - 2 538 c.171G>C c.(169-171)atG>atC p.M57I HACL1_ENST00000451445.2_Missense_Mutation_p.M57I|HACL1_ENST00000457447.2_Missense_Mutation_p.M57I|HACL1_ENST00000456194.2_Missense_Mutation_p.M57I|HACL1_ENST00000435217.2_Missense_Mutation_p.M57I NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 57 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 GCTCATTCCTCATCCCGATGT 0.507000 8 24 0 0 0.006214 0 0 ERCC6 2074 broad.mit.edu 37 10 50678260 50678260 + Missense_Mutation SNP T T A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr10:50678260T>A ENST00000355832.5 - 18 3824 c.3746A>T c.(3745-3747)gAt>gTt p.D1249V ERCC6_ENST00000542458.1_Missense_Mutation_p.D619V|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1249 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CAAAACATAATCGTCATTGCT 0.408000 Direct reversal of damage;Nucleotide excision repair (NER) 113 89 0 0 0.003610 0 0 DUOXA2 405753 broad.mit.edu 37 15 45408913 45408913 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:45408913C>T ENST00000323030.5 + 4 825 c.540C>T c.(538-540)gcC>gcT p.A180A NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 180 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) GACACTACGCCTCGGCCACGC 0.647000 7 17 0 0 0.001984 0 0 FKBP2 2286 broad.mit.edu 37 11 64009862 64009862 + Translation_Start_Site SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:64009862G>T ENST00000394540.3 + 2 473 c.3G>T c.(1-3)atG>atT p.M1I FKBP2_ENST00000309366.4_Start_Codon_SNP_p.M1I|FKBP2_ENST00000449942.2_Start_Codon_SNP_p.M1I NM_057092.2 NP_476433.1 P26885 FKBP2_HUMAN FK506 binding protein 2, 13kDa 1 protein folding endoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding endometrium(2)|lung(3) 5 ACAGAGACATGAGGCTGAGCT 0.647000 14 104 3.45872e-05 5.90238e-05 0.004007 1 0 MMP1 4312 broad.mit.edu 37 11 102663445 102663445 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:102663445G>C ENST00000315274.6 - 7 991 c.924C>G c.(922-924)ttC>ttG p.F308L WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 308 Hemopexin-like 1. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CTTCCGGGTAGAAGGGATTTG 0.433000 17 41 0 0 0.008871 0 0 DISP2 85455 broad.mit.edu 37 15 40655921 40655921 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:40655921C>T ENST00000267889.3 + 2 302 c.215C>T c.(214-216)cCc>cTc p.P72L NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 72 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TCTTCAGGACCCCCACCAACA 0.657000 36 65 0 0 0.002836 0 0 LPAL2 80350 broad.mit.edu 37 6 160908301 160908301 + RNA SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:160908301C>G ENST00000335388.5 - 0 671 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GAAGTATCCTCTCGTCTTGGA 0.502000 11 34 0 0 0.000978 0 0 CHD9 80205 broad.mit.edu 37 16 53272475 53272475 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr16:53272475G>A ENST00000566029.1 + 12 3063 c.2854G>A c.(2854-2856)Gag>Aag p.E952K CHD9_ENST00000564845.1_Missense_Mutation_p.E952K|CHD9_ENST00000447540.1_Missense_Mutation_p.E952K|CHD9_ENST00000398510.3_Missense_Mutation_p.E952K Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 952 Helicase ATP-binding. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) ACAGCAATACGAGATGTACTT 0.373000 46 127 0 0 0.003610 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70819809 70819809 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:70819809G>A ENST00000370944.4 - 1 596 c.283C>T c.(283-285)Ctg>Ttg p.L95L ANKRD13C_ENST00000262346.6_Silent_p.L95L NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 95 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 GTGCCGGCCAGAAGGGCCGGG 0.672000 45 17 0 0 0.002852 0 0 GFRA4 64096 broad.mit.edu 37 20 3644019 3644019 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:3644019G>A ENST00000290417.2 - 1 27 c.28C>T c.(28-30)Ctg>Ttg p.L10L GFRA4_ENST00000319242.3_Silent_p.L10L NM_022139.3|NM_145762.2 NP_071422.1|NP_665705.1 Q9GZZ7 GFRA4_HUMAN GDNF family receptor alpha 4 10 anchored to membrane|extracellular region|plasma membrane receptor activity large_intestine(1)|lung(2) 3 AGCAGCAGCAGCAGCGCAGGC 0.637000 9 12 0 0 0.008291 0 0 DHCR7 1717 broad.mit.edu 37 11 71148918 71148918 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:71148918G>A ENST00000355527.3 - 8 1179 c.903C>T c.(901-903)caC>caT p.H301H DHCR7_ENST00000407721.2_Silent_p.H301H NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 301 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) ACCACCCGAAGTGGTCATGGC 0.582000 Smith-Lemli-Opitz syndrome 12 93 0 0 0.001855 0 0 FKBP2 2286 broad.mit.edu 37 11 64011493 64011493 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:64011493G>C ENST00000394540.3 + 6 891 c.421G>C c.(421-423)Gag>Cag p.E141Q FKBP2_ENST00000309366.4_Missense_Mutation_p.E141Q|FKBP2_ENST00000449942.2_Missense_Mutation_p.E141Q NM_057092.2 NP_476433.1 P26885 FKBP2_HUMAN FK506 binding protein 2, 13kDa 141 protein folding endoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding endometrium(2)|lung(3) 5 GCGACGAACTGAGCTGTAACC 0.517000 16 136 0 0 0.008871 0 0 CSNK2A3 283106 broad.mit.edu 37 11 11374111 11374111 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:11374111G>C ENST00000528848.2 - 1 793 c.556C>G c.(556-558)Caa>Gaa p.Q186E GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA NM_001256686.1 NP_001243615.1 casein kinase 2, alpha 3 polypeptide TTATATTCTTGGCCAGGATGA 0.423000 26 51 0 0 0.008361 0 0 FRG2B 441581 broad.mit.edu 37 10 135438868 135438868 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr10:135438868G>A ENST00000443774.1 - 4 624 c.575C>T c.(574-576)gCc>gTc p.A192V FRG2B_ENST00000425520.1_Missense_Mutation_p.A191V Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 191 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CCACACCTGGGCTAGGTCTTG 0.572000 10 101 0 0 0.000978 0 0 SETD5 55209 broad.mit.edu 37 3 9488977 9488977 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:9488977T>C ENST00000402466.1 + 15 2242 c.1474T>C c.(1474-1476)Tct>Cct p.S492P SETD5_ENST00000406341.1_Missense_Mutation_p.S590P|SETD5_ENST00000402198.1_Missense_Mutation_p.S590P|SETD5_ENST00000407969.1_Missense_Mutation_p.S609P|SETD5_ENST00000302463.6_Missense_Mutation_p.S492P Q9C0A6 SETD5_HUMAN SET domain containing 5 590 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) TACCCGGAGGTCTTCCCAAGC 0.423000 48 106 0 0 0.003610 0 0 FBXO40 51725 broad.mit.edu 37 3 121340738 121340738 + Silent SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:121340738T>C ENST00000338040.4 + 3 876 c.462T>C c.(460-462)acT>acC p.T154T NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 154 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GAGAGGCTACTGAGGAGGAAC 0.507000 24 23 0 0 0.002780 0 0 MTTP 4547 broad.mit.edu 37 4 100534246 100534246 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:100534246C>T ENST00000457717.1 + 16 2422 c.2166C>T c.(2164-2166)ggC>ggT p.G722G MTTP_ENST00000511045.1_Silent_p.G749G|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.G722G NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 722 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CAGCATCTGGCGACCCTATCA 0.423000 11 60 0 0 0.008291 0 0 DOCK4 9732 broad.mit.edu 37 7 111517169 111517169 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:111517169C>T ENST00000428084.1 - 17 1933 c.1661G>A c.(1660-1662)gGg>gAg p.G554E DOCK4_ENST00000437633.1_Missense_Mutation_p.G554E|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 554 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ATTATTATTCCCAAGGAAAAT 0.338000 13 9 0 0 0.001368 0 0 ACE 1636 broad.mit.edu 37 17 61571742 61571742 + Nonsense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:61571742C>G ENST00000577647.1 + 11 1614 c.1569C>G c.(1567-1569)taC>taG p.Y523* ACE_ENST00000421982.2_Nonsense_Mutation_p.Y343*|ACE_ENST00000490216.2_Nonsense_Mutation_p.Y523*|ACE_ENST00000428043.1_Nonsense_Mutation_p.Y1097*|ACE_ENST00000413513.3_Nonsense_Mutation_p.Y523*|ACE_ENST00000290863.6_Nonsense_Mutation_p.Y523*|ACE_ENST00000290866.4_Nonsense_Mutation_p.Y1097* P12821 ACE_HUMAN angiotensin I converting enzyme 1097 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGCTGAAGTACCAGGGCCTCT 0.552000 4 45 0 0 0.000248 0 0 PEG3 5178 broad.mit.edu 37 19 57335633 57335633 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr19:57335633C>T ENST00000326441.9 - 4 754 c.391G>A c.(391-393)Gaa>Aaa p.E131K ZIM2_ENST00000601070.1_Missense_Mutation_p.E5K|ZIM2_ENST00000599935.1_Missense_Mutation_p.E5K|ZIM2_ENST00000221722.5_Missense_Mutation_p.E5K|ZIM2_ENST00000593931.1_Missense_Mutation_p.E5K|PEG3_ENST00000593695.1_Missense_Mutation_p.E5K|ZIM2_ENST00000593711.1_Missense_Mutation_p.E5K|PEG3_ENST00000423103.2_Missense_Mutation_p.E131K|PEG3_ENST00000598410.1_Missense_Mutation_p.E5K|ZIM2_ENST00000391708.3_Missense_Mutation_p.E5K NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 131 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTCTCACCTTCTGGTTGGTAC 0.547000 14 102 0 0 0.002450 0 0 LIG4 3981 broad.mit.edu 37 13 108863582 108863582 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:108863582G>C ENST00000356922.4 - 2 307 c.35C>G c.(34-36)tCt>tGt p.S12C LIG4_ENST00000405925.1_Missense_Mutation_p.S12C|LIG4_ENST00000442234.1_Missense_Mutation_p.S12C NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 12 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AGGAACGTGAGATGCAACAGT 0.353000 Non-homologous end-joining 8 24 0 0 0.003080 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198315 170198315 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:170198315C>A ENST00000231706.4 - 7 2071 c.1756G>T c.(1756-1758)Ggt>Tgt p.G586C CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 586 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TAGTCAGAACCAAAGATGATG 0.552000 12 56 0.00010058 0.000168888 0.001368 1 0 ODF2L 57489 broad.mit.edu 37 1 86838147 86838148 + Frame_Shift_Ins INS - - T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:86838147_86838148insT ENST00000359242.3 - 9 1167_1168 c.886_887insA c.(886-888)cgafs p.R296fs ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.R296fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.R296fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.R165fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.R296fs|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.R296fs NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 296 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) TTCCAATTCGGTTTTTTCTATC 0.257 2 4 --- --- --- --- OR2T7 81458 broad.mit.edu 37 1 248604559 248604560 + Frame_Shift_Ins INS - - TC rs58223479 by1000genomes TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:248604559_248604560insTC ENST00000460972.3 + 1 52_53 c.52_53insTC c.(52-54)cttfs p.L18fs olfactory receptor, family 2, subfamily T, member 7 TTCCCCTGGCTTCTTTGCCCTC 0.515 3 4 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 8 189 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 4 6 --- --- --- --- PHOX2B 8929 broad.mit.edu 37 4 41747993 41748013 + In_Frame_Del DEL GCCGCCGCTGCCGCTGCCGCC GCCGCCGCTGCCGCTGCCGCC - rs17884724 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC ENST00000226382.2 - 3 1115_1135 c.756_776delGGCGGCAGCGGCAGCGGCGGC c.(754-777)gca>gc p.AAAAAAAA252del NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 252 Poly-Ala. positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 GCCTCCAgctgccgccgctgccgctgccgccgccgccgctg 0.819 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 3 5 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 3 3 --- --- --- --- MAPK8 5599 broad.mit.edu 37 10 49634078 49634079 + Frame_Shift_Del DEL TT TT - TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr10:49634078_49634079delTT ENST00000374189.1 + 8 1017_1018 c.836_837delTT c.(835-837)cfs p.L279fs MAPK8_ENST00000360332.3_Frame_Shift_Del_p.L279fs|MAPK8_ENST00000374182.3_Frame_Shift_Del_p.L279fs|MAPK8_ENST00000395611.3_Intron P45983 MK08_HUMAN mitogen-activated protein kinase 8 279 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) CCTGATGTCCTTTTCCCAGCTG 0.386 24 70 --- --- --- --- ESRRAP2 144832 broad.mit.edu 37 13 21867825 21867825 + RNA DEL A A - TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:21867825delA ENST00000453309.2 + 0 551 CATCCAATTGAAAAAAAATAG 0.443 2 4 --- --- --- --- TPTE2P2 644623 broad.mit.edu 37 13 52853920 52853920 + RNA DEL G G - TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:52853920delG ENST00000451298.1 - 0 562 RP11-64P12.8_ENST00000606031.1_RNA TTAAACTTATGACTACACAGT 0.338 2 4 --- --- --- --- NUDT7 283927 broad.mit.edu 37 16 77775743 77775744 + Frame_Shift_Ins INS - - A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr16:77775743_77775744insA ENST00000268533.5 + 4 682_683 c.613_614insA c.(613-615)aaafs p.K205fs NUDT7_ENST00000437314.3_Frame_Shift_Ins_p.K152fs|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA NM_001105663.2 NP_001099133.1 P0C024 NUDT7_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 7 205 nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18 TATCATTTTGGAAAAAAAACCC 0.381 11 33 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577102 7577119 + In_Frame_Del DEL CCAGGACAGGCACAAACA CCAGGACAGGCACAAACA - rs17849781 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:7577102_7577119delCCAGGACAGGCACAAACA ENST00000420246.2 - 8 951_968 c.819_836delTGTTTGTGCCTGTCCTGG c.(817-837)cgg>cg p.RVCACPG273del TP53_ENST00000359597.4_In_Frame_Del_p.RVCACPG273del|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Del_p.RVCACPG273del|TP53_ENST00000455263.2_In_Frame_Del_p.RVCACPG273del|TP53_ENST00000269305.4_In_Frame_Del_p.RVCACPG273del NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.P278L(61)|p.P278S(55)|p.C275Y(53)|p.C275F(37)|p.G279E(32)|p.P278R(30)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.V274F(21)|p.V274A(19)|p.C277Y(15)|p.A276P(15)|p.P278H(13)|p.V274L(11)|p.V274D(9)|p.A276S(9)|p.G279R(9)|p.R280fs*65(8)|p.C277*(8)|p.V274G(8)|p.0?(8)|p.A276V(7)|p.C275G(7)|p.C275W(7)|p.C275R(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.C277G(5)|p.C275fs*70(4)|p.G279V(4)|p.C275C(4)|p.C277C(4)|p.A276G(4)|p.V274I(4)|p.P278F(3)|p.V274V(3)|p.C275fs*31(2)|p.C275S(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.C277fs*29(2)|p.?(2)|p.C277W(2)|p.G279fs*65(2)|p.A276A(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.G279_R280delGR(1)|p.R273R(1)|p.E258fs*71(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.R280fs*62(1)|p.E271_R273delEVR(1)|p.R273S(1)|p.C275*(1)|p.G279fs*59(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.A276fs*68(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.R273fs*71(1)|p.P278P(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) CCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAA 0.541 111 """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) 17 20 --- --- --- --- NOS2P1 645740 broad.mit.edu 37 17 25988693 25988702 + RNA DEL CACAGGTGGC CACAGGTGGC - rs3217511 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:25988693_25988702delCACAGGTGGC ENST00000583179.1 - 0 1982_1991 GATGTAAAAGCACAGGTGGCCACAGGTTAC 0.500 3 3 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343746 15343749 + RNA DEL TCTG TCTG - TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr21:15343746_15343749delTCTG ENST00000344693.5 - 0 736 NR_027270.1 CTCTGTGCTTTCTGATGTGCTGCT 0.407 4 2 --- --- --- ---