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 POLQ 10721 broad.mit.edu 37 3 121209076 121209076 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:121209076C>A ENST00000264233.5 - 16 2830 c.2702G>T c.(2701-2703)tGt>tTt p.C901F NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 901 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TAACAGGGCACATGGATTCCA 0.393000 DNA polymerases (catalytic subunits) 33 42 4.3181e-19 7.19683e-19 0.002836 1 0 PIFO 128344 broad.mit.edu 37 1 111892810 111892810 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:111892810G>C ENST00000369738.4 + 5 837 c.472G>C c.(472-474)Gtt>Ctt p.V158L PIFO_ENST00000369737.4_Missense_Mutation_p.V125L|PIFO_ENST00000484512.1_3'UTR NM_181643.4 NP_857594.2 primary cilia formation CTGGGCTCAGGTTCCATGTCT 0.413000 24 101 0 0 0.002780 0 0 DCHS1 8642 broad.mit.edu 37 11 6648071 6648071 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:6648071G>A ENST00000299441.3 - 14 6610 c.6199C>T c.(6199-6201)Cgc>Tgc p.R2067C NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2067 Cadherin 19. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGGGGAAAGCGGGGTCCACGC 0.597000 9 25 0 0 0.006214 0 0 CCDC108 255101 broad.mit.edu 37 2 219892675 219892675 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:219892675G>T ENST00000341552.5 - 13 1991 c.1908C>A c.(1906-1908)ttC>ttA p.F636L CCDC108_ENST00000441968.1_Missense_Mutation_p.F636L|CCDC108_ENST00000453220.1_Missense_Mutation_p.F636L|CCDC108_ENST00000410037.1_Missense_Mutation_p.F571L|CCDC108_ENST00000409865.3_Missense_Mutation_p.F625L NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 636 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTCGAAGAAGAACTCGGTCA 0.607000 21 83 3.10358e-05 3.69219e-05 0.002299 1 0 NPAP1 23742 broad.mit.edu 37 15 24923001 24923001 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:24923001A>T ENST00000329468.2 + 1 2461 c.1987A>T c.(1987-1989)Agt>Tgt p.S663C NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTCTCTCCCCAGTGCCTGTGT 0.507000 18 91 0 0 0.001882 0 0 ZNF12 7559 broad.mit.edu 37 7 6731811 6731811 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:6731811C>T ENST00000405858.1 - 5 1303 c.762G>A c.(760-762)tcG>tcA p.S254S ZNF12_ENST00000342651.5_Silent_p.S216S|ZNF12_ENST00000404360.1_Silent_p.S180S|AC073343.13_ENST00000366167.2_RNA NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 254 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CAGTGAGGTCCGACATCTGGA 0.383000 13 20 0 0 0.001368 0 0 PLCG2 5336 broad.mit.edu 37 16 81965179 81965179 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:81965179G>T ENST00000359376.3 + 25 2873 c.2659G>T c.(2659-2661)Gag>Tag p.E887* NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 887 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.E887*(2) NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TCCTCCGGTGGAGTTTGCCAC 0.532000 16 59 2.32078e-09 3.24158e-09 0.003163 1 0 CPS1 1373 broad.mit.edu 37 2 211504723 211504723 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:211504723C>A ENST00000233072.5 + 24 3095 c.2899C>A c.(2899-2901)Cat>Aat p.H967N CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.H516N|CPS1_ENST00000430249.2_Missense_Mutation_p.H973N NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 967 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TCCTCAGGAGCATGATGTCAA 0.313000 7 40 1.76689e-08 2.3905e-08 0.006214 1 0 DKK2 27123 broad.mit.edu 37 4 107845182 107845182 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:107845182G>T ENST00000285311.3 - 4 1414 c.709C>A c.(709-711)Ctg>Atg p.L237M DKK2_ENST00000513208.1_Missense_Mutation_p.L137M|DKK2_ENST00000510463.1_Missense_Mutation_p.L191M NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 237 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) TTGCAAGACAGGCCCTTCGCA 0.488000 18 69 2.35188e-11 3.4824e-11 0.006122 1 0 OR8D2 283160 broad.mit.edu 37 11 124189266 124189266 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:124189266C>T ENST00000357438.2 - 1 918 c.828G>A c.(826-828)gtG>gtA p.V276V NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TGATGTAGAACACAGAAGACA 0.433000 18 101 0 0 0.006122 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37349800 37349800 + Nonsense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:37349800C>A ENST00000233057.4 - 12 1238 c.916G>T c.(916-918)Gag>Tag p.E306* EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.E306*|EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.E265* NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 306 Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) ACTTCACGCTCCGCCTTCCTA 0.408000 9 44 0.00448238 0.00483257 0.004482 1 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833185 27833185 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:27833185G>C ENST00000357320.2 + 1 152 c.53G>C c.(52-54)cGc>cCc p.R18P NM_003511.2 NP_003502.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 18 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2) 9 GCCAAGACCCGCTCTTCTCGT 0.632000 25 128 0 0 0.004656 0 0 ITK 3702 broad.mit.edu 37 5 156671307 156671307 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:156671307G>T ENST00000422843.3 + 13 1420 c.1268G>T c.(1267-1269)gGg>gTg p.G423V ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 423 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGCTGTATGGGGTGTGCCTG 0.522000 T SYK peripheral T-cell lymphoma 9 42 3.07112e-06 3.82504e-06 0.000978 1 0 OR51A2 401667 broad.mit.edu 37 11 4976042 4976042 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:4976042C>A ENST00000380371.1 - 1 901 c.902G>T c.(901-903)aGa>aTa p.R301I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AACTCTCACTCTAATCTGTTT 0.353000 50 28 8.99859e-20 1.52932e-19 0.003610 1 0 MCAM 4162 broad.mit.edu 37 11 119185575 119185575 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:119185575G>T ENST00000264036.4 - 3 382 c.368C>A c.(367-369)tCc>tAc p.S123Y NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule 123 Ig-like V-type 1. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) GTACTCCTGGGACCGAGGGCG 0.642000 34 37 4.31634e-10 6.17899e-10 0.002445 1 0 IGHA1 3493 broad.mit.edu 37 14 106174156 106174156 + RNA SNP G G T rs1129604 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:106174156G>T ENST00000390547.2 - 0 632 GCGGGGTCTTGGACTCGGGGT 0.617000 16 28 4.14922e-12 6.30608e-12 0.004007 1 0 COL9A3 1299 broad.mit.edu 37 20 61452879 61452879 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:61452879C>A ENST00000343916.3 + 7 369 c.366C>A c.(364-366)ccC>ccA p.P122P NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 122 Triple-helical region 3 (COL3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) TCCCTGGACCCCCCGTGAGTA 0.647000 9 43 0.00829132 0.00885605 0.008291 1 0 PCDH11X 27328 broad.mit.edu 37 X 91873753 91873753 + Silent SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:91873753T>A ENST00000373094.1 + 7 4703 c.3858T>A c.(3856-3858)gcT>gcA p.A1286A PCDH11X_ENST00000373097.1_Silent_p.A1276A|PCDH11X_ENST00000406881.1_Silent_p.A1278A|PCDH11X_ENST00000298274.8_Silent_p.A1249A|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.A1268A|PCDH11X_ENST00000373088.1_Silent_p.A1249A NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1286 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TGCAAGGTGCTGATGGGCTAT 0.488000 59 123 0 0 0.003610 0 0 BPTF 2186 broad.mit.edu 37 17 65944403 65944403 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:65944403A>T ENST00000321892.4 + 25 8346 c.8285A>T c.(8284-8286)gAt>gTt p.D2762V BPTF_ENST00000306378.6_Missense_Mutation_p.D2636V|BPTF_ENST00000335221.5_Missense_Mutation_p.D2619V|BPTF_ENST00000424123.3_Missense_Mutation_p.D2480V Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2762 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CTGGACAAGGATCTGCAAATT 0.463000 10 28 0 0 0.000978 0 0 RAB31 11031 broad.mit.edu 37 18 9792205 9792205 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:9792205C>A ENST00000578921.1 + 3 415 c.174C>A c.(172-174)ctC>ctA p.L58L NM_006868.3 NP_006859.2 Q13636 RAB31_HUMAN RAB31, member RAS oncogene family 57 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1) 10 ACAAGTTCCTCATCTGGGACA 0.408000 9 16 5.16669e-11 7.58514e-11 0.000978 1 0 FAM90A1 55138 broad.mit.edu 37 12 8374735 8374735 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:8374735C>T ENST00000538603.1 - 7 1636 c.1078G>A c.(1078-1080)Gac>Aac p.D360N FAM90A1_ENST00000307435.6_Missense_Mutation_p.D360N NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 360 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) GGCTGCCGGTCGCCGCTAAGC 0.677000 5 57 0 0 0.001168 0 0 WDR64 128025 broad.mit.edu 37 1 241907716 241907716 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:241907716C>A ENST00000366552.2 + 12 1669 c.1462C>A c.(1462-1464)Ctc>Atc p.L488I WDR64_ENST00000437684.2_Missense_Mutation_p.L488I NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 488 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CGAGACTGGGCTCCAAGTATA 0.398000 12 41 5.50884e-06 6.71572e-06 0.001368 1 0 SCN2A 6326 broad.mit.edu 37 2 166172258 166172258 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:166172258C>T ENST00000375437.2 + 11 1951 c.1661C>T c.(1660-1662)tCt>tTt p.S554F SCN2A_ENST00000283256.6_Missense_Mutation_p.S554F|SCN2A_ENST00000375427.2_Missense_Mutation_p.S554F|SCN2A_ENST00000357398.3_Missense_Mutation_p.S554F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 554 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGATTTTCTTCTCCACACCAG 0.348000 18 55 0 0 0.001882 0 0 CACNA2D1 781 broad.mit.edu 37 7 81579728 81579728 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:81579728T>A ENST00000356860.3 - 39 3594 c.3256A>T c.(3256-3258)Agc>Tgc p.S1086C CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S298C|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S1098C NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 1098 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CGGTGTGTGCTGCCAGATACC 0.448000 14 60 0 0 0.004007 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915411 39915411 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:39915411C>G ENST00000425673.1 + 17 3876 c.3551C>G c.(3550-3552)cCt>cGt p.P1184R PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1213R|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P1154R Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 1213 Pro-rich. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCTGCCACACCTTTACCTGAG 0.537000 15 252 0 0 0.004990 0 0 CCL25 6370 broad.mit.edu 37 19 8121118 8121118 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:8121118G>A ENST00000253451.4 + 3 262 c.156G>A c.(154-156)caG>caA p.Q52Q CCL25_ENST00000315626.4_Silent_p.Q52Q|CCL25_ENST00000390669.3_Silent_p.Q52Q NM_001201359.1|NM_005624.3 NP_001188288.1|NP_005615.2 O15444 CCL25_HUMAN chemokine (C-C motif) ligand 25 52 chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|hormone activity NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1) 5 ACCGGATCCAGGAGGTGAGCG 0.667000 30 18 0 0 0.002096 0 0 ACAA2 10449 broad.mit.edu 37 18 47317871 47317871 + Silent SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:47317871T>A ENST00000285093.10 - 7 1327 c.852A>T c.(850-852)gtA>gtT p.V284V ACAA2_ENST00000589432.1_Silent_p.V229V|ACAA2_ENST00000587994.1_Silent_p.V281V NM_006111.2 NP_006102.2 P42765 THIM_HUMAN acetyl-CoA acyltransferase 2 284 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding large_intestine(2)|lung(7)|ovary(1) 10 CACATCCAGATACAAAGTAGC 0.398000 19 41 0 0 0.006122 0 0 ITIH5 80760 broad.mit.edu 37 10 7621754 7621754 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:7621754A>T ENST00000256861.6 - 9 1460 c.1382T>A c.(1381-1383)gTg>gAg p.V461E ITIH5_ENST00000397146.2_Missense_Mutation_p.V461E|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.V243E|ITIH5_ENST00000397145.2_Missense_Mutation_p.V461E|ITIH5_ENST00000298441.6_Missense_Mutation_p.V247E NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 461 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CTCCTCGTGCACGCGCCGTGT 0.622000 13 94 0 0 0.001855 0 0 NEUROG3 50674 broad.mit.edu 37 10 71332454 71332454 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:71332454C>A ENST00000242462.4 - 2 375 c.346G>T c.(346-348)Gac>Tac p.D116Y NM_020999.3 NP_066279.2 Q9Y4Z2 NGN3_HUMAN neurogenin 3 116 Helix-loop-helix motif. central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 AGCTTCGCGTCGTCTGGGAAG 0.622000 7 43 8.12818e-05 9.34741e-05 0.001984 1 0 TMEM98 26022 broad.mit.edu 37 17 31258574 31258574 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:31258574G>T ENST00000579849.1 + 3 459 c.28G>T c.(28-30)Ggt>Tgt p.G10C TMEM98_ENST00000394642.3_Missense_Mutation_p.G10C|TMEM98_ENST00000578289.1_Missense_Mutation_p.G10C NM_015544.2 NP_056359.2 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 10 endoplasmic reticulum|integral to membrane kidney(2)|large_intestine(1) 3 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) TGTTGCCATAGGTGTGCTGGC 0.567000 10 7 5.50884e-06 6.71572e-06 0.001368 1 0 XIRP2 129446 broad.mit.edu 37 2 168101680 168101680 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:168101680T>A ENST00000409195.1 + 9 3867 c.3778T>A c.(3778-3780)Tgt>Agt p.C1260S XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.C1260S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.C1038S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1085 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGTGATGAATGTGTTAAGAC 0.338000 10 52 0 0 0.000978 0 0 MAP2 4133 broad.mit.edu 37 2 210560620 210560620 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:210560620G>C ENST00000360351.4 + 7 4232 c.3726G>C c.(3724-3726)caG>caC p.Q1242H MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q1238H|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1242 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TAGAAGCCCAGGGAGAATATG 0.488000 6 54 0 0 0.001168 0 0 SLC4A10 57282 broad.mit.edu 37 2 162719564 162719564 + Missense_Mutation SNP A A C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:162719564A>C ENST00000375514.5 + 7 1078 c.791A>C c.(790-792)gAc>gCc p.D264A SLC4A10_ENST00000421911.1_Missense_Mutation_p.D253A|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D253A|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D253A|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.D253A|SLC4A10_ENST00000535165.1_Missense_Mutation_p.D253A NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 253 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AATTCCATGGACAAAAATGGT 0.338000 5 35 0 0 0.001168 0 0 LCT 3938 broad.mit.edu 37 2 136570242 136570242 + Silent SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:136570242G>C ENST00000264162.2 - 7 2002 c.1992C>G c.(1990-1992)ccC>ccG p.P664P NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 664 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTGTGAACTCGGGGAGTTGAG 0.557000 30 58 0 0 0.002445 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110451174 110451174 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:110451174C>G ENST00000378402.5 + 32 3913 c.3809C>G c.(3808-3810)aCa>aGa p.T1270R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1270 IPT/TIG 6. immune response cytosol|extracellular space|integral to membrane receptor activity p.T1272R(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AATGAACTCACACAAAACATG 0.343000 HNSCC(38;0.096) 50 30 0 0 0.003610 0 0 NOP2 4839 broad.mit.edu 37 12 6672656 6672656 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:6672656C>T ENST00000541778.1 - 8 1189 c.701G>A c.(700-702)cGa>cAa p.R234Q NOP2_ENST00000399466.2_Missense_Mutation_p.R234Q|NOP2_ENST00000545200.1_Missense_Mutation_p.R234Q|NOP2_ENST00000382421.3_Missense_Mutation_p.R271Q|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Missense_Mutation_p.R238Q|NOP2_ENST00000322166.5_Missense_Mutation_p.R238Q P46087 NOP2_HUMAN NOP2 nucleolar protein 238 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 CTTGTGAACTCGTTGCAGGTC 0.547000 OREG0021630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 17 0 0 0.009096 0 0 NLRP14 338323 broad.mit.edu 37 11 7065050 7065050 + Missense_Mutation SNP C C A rs148807230 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:7065050C>A ENST00000299481.4 + 4 2139 c.1793C>A c.(1792-1794)gCa>gAa p.A598E NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 598 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATAAGCCAGGCAATGAGATGT 0.408000 28 55 6.38683e-12 9.66428e-12 0.008361 1 0 TRPV4 59341 broad.mit.edu 37 12 110222182 110222182 + Silent SNP C C A rs141301107 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:110222182C>A ENST00000418703.2 - 14 2491 c.2397G>T c.(2395-2397)ccG>ccT p.P799P TRPV4_ENST00000537083.1_Silent_p.P739P|TRPV4_ENST00000541794.1_Silent_p.P752P|TRPV4_ENST00000346520.2_Silent_p.P739P|TRPV4_ENST00000261740.2_Silent_p.P799P|TRPV4_ENST00000392719.2_Silent_p.P752P|TRPV4_ENST00000544971.1_Silent_p.P692P|TRPV4_ENST00000536838.1_Silent_p.P765P NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 799 P -> A (in MTD).|P -> L (in MTD; also found in a patient with spondyloepiphyseal dysplasia Maroteaux type).|P -> R (in MTD).|P -> S (in MTD). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CATTCTTGCCCGGGTCCTCGT 0.627000 39 81 9.62906e-15 1.54513e-14 0.006230 1 0 KLB 152831 broad.mit.edu 37 4 39408945 39408945 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:39408945G>T ENST00000257408.4 + 1 473 c.376G>T c.(376-378)Ggt>Tgt p.G126C NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 126 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 CAGCACGAATGGTTCCAGTGA 0.388000 47 102 1.0331e-37 1.85634e-37 0.003610 1 0 TRPC4 7223 broad.mit.edu 37 13 38237769 38237769 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr13:38237769C>T ENST00000379705.3 - 6 2329 c.1472G>A c.(1471-1473)cGt>cAt p.R491H TRPC4_ENST00000379681.3_Missense_Mutation_p.R491H|TRPC4_ENST00000358477.2_Missense_Mutation_p.R491H|TRPC4_ENST00000447043.1_Missense_Mutation_p.R491H|TRPC4_ENST00000379673.2_Missense_Mutation_p.R491H|TRPC4_ENST00000379679.1_Missense_Mutation_p.R318H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.R491H|TRPC4_ENST00000338947.5_Missense_Mutation_p.R318H Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 491 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.R491H(1) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TGAGATCAGACGCAGAGAACT 0.448000 7 14 0 0 0.001984 0 0 ADAM7 8756 broad.mit.edu 37 8 24342843 24342843 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:24342843G>T ENST00000175238.6 + 10 1012 c.929G>T c.(928-930)tGc>tTc p.C310F RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.C82F|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.C310F NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 310 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GGGGGTATGTGCCTGCCCTAT 0.358000 35 43 4.00102e-26 6.93644e-26 0.006230 1 0 WDR64 128025 broad.mit.edu 37 1 241904880 241904880 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:241904880C>A ENST00000366552.2 + 11 1561 c.1354C>A c.(1354-1356)Cac>Aac p.H452N WDR64_ENST00000437684.2_Missense_Mutation_p.H452N NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 452 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ACAGGTTCCTCACACTCATGA 0.343000 11 20 0.00829132 0.00885605 0.008291 1 0 ZBTB16 7704 broad.mit.edu 37 11 113935030 113935030 + Silent SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:113935030G>C ENST00000335953.4 + 2 1388 c.1008G>C c.(1006-1008)gtG>gtC p.V336V ZBTB16_ENST00000392996.2_Silent_p.V336V NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 336 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TCTACTCCGTGTTGCCCAACC 0.652000 34 35 0 0 0.002836 0 0 OSGIN1 29948 broad.mit.edu 37 16 83999018 83999018 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:83999018G>T ENST00000343939.2 + 7 1472 c.1089G>T c.(1087-1089)gcG>gcT p.A363A OSGIN1_ENST00000361711.3_Silent_p.A280A|OSGIN1_ENST00000393306.1_Silent_p.A280A Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 363 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 GGGTGGGTGCGGTGACCCCGG 0.697000 8 47 7.48243e-07 9.5256e-07 0.006214 1 0 SPO11 23626 broad.mit.edu 37 20 55906984 55906984 + Nonsense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:55906984C>G ENST00000371263.3 + 2 336 c.227C>G c.(226-228)tCa>tGa p.S76* SPO11_ENST00000371260.4_Intron|SPO11_ENST00000345868.4_Intron NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 76 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) GACAACAGATCAAGCTGGGAA 0.313000 Editing and processing nucleases 26 132 0 0 0.004656 0 0 FRYL 285527 broad.mit.edu 37 4 48563563 48563563 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:48563563G>A ENST00000537810.1 - 33 4391 c.3787C>T c.(3787-3789)Ctc>Ttc p.L1263F FRYL_ENST00000507711.1_Missense_Mutation_p.L1263F|FRYL_ENST00000358350.4_Missense_Mutation_p.L1263F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.L1263F O94915 FRYL_HUMAN FRY-like 1263 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ACAGAATAGAGATGTGGTAGA 0.438000 3 32 0 0 0.004672 0 0 LILRA2 11027 broad.mit.edu 37 19 55086759 55086759 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:55086759G>T ENST00000251377.3 + 6 825 c.692G>T c.(691-693)gGt>gTt p.G231V LILRA2_ENST00000251376.3_Missense_Mutation_p.G231V|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G219V|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G231V leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GTGCAGCCAGGTCCTATGGTG 0.557000 15 86 3.99206e-14 6.28886e-14 0.007413 1 0 HYDIN 54768 broad.mit.edu 37 16 70913523 70913523 + Missense_Mutation SNP A A C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:70913523A>C ENST00000393567.2 - 61 10502 c.10352T>G c.(10351-10353)tTg>tGg p.L3451W NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3451 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CAAGCCATCCAAGGTAGCCTC 0.577000 6 51 0 0 0.001984 0 0 NAV3 89795 broad.mit.edu 37 12 78562599 78562599 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:78562599A>G ENST00000397909.2 + 24 5107 c.4934A>G c.(4933-4935)cAg>cGg p.Q1645R NAV3_ENST00000266692.7_Missense_Mutation_p.Q1468R|NAV3_ENST00000228327.6_Missense_Mutation_p.Q1645R|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1645R Q8IVL0 NAV3_HUMAN neuron navigator 3 1645 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCTGCTGCCCAGGCGGCTATT 0.398000 HNSCC(70;0.22) 36 55 0 0 0.007835 0 0 GFRAL 389400 broad.mit.edu 37 6 55214912 55214912 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:55214912C>G ENST00000340465.2 + 4 425 c.339C>G c.(337-339)ttC>ttG p.F113L NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 113 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGGATAAATTCAAATGGAATC 0.303000 11 47 0 0 0.000978 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227268619 227268619 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:227268619C>A ENST00000366769.3 - 17 3746 c.2455G>T c.(2455-2457)Gcc>Tcc p.A819S CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A738S|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A819S|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A819S|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A819S|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A819S|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A819S NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 819 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GTGATTTGGGCTTCCCAATGT 0.388000 14 139 4.36969e-10 6.22952e-10 0.001855 1 0 UTP6 55813 broad.mit.edu 37 17 30202318 30202318 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:30202318T>C ENST00000261708.4 - 14 1377 c.1240A>G c.(1240-1242)Atc>Gtc p.I414V CTC-542B22.2_ENST00000583236.1_lincRNA NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 414 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) TTTGACTCGATCAGCACCTGC 0.463000 35 65 0 0 0.004289 0 0 CBX2 84733 broad.mit.edu 37 17 77757821 77757821 + Silent SNP G G T rs144185230 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:77757821G>T ENST00000310942.4 + 5 683 c.579G>T c.(577-579)ctG>ctT p.L193L NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 193 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGAAGGATCTGGGGGCCCCGG 0.697000 25 40 3.28513e-13 5.12837e-13 0.003954 1 0 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 5 175 0 0 0.001168 0 0 SOCS6 9306 broad.mit.edu 37 18 67992499 67992499 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:67992499G>T ENST00000397942.3 + 2 911 c.595G>T c.(595-597)Gga>Tga p.G199* SOCS6_ENST00000582322.1_Nonsense_Mutation_p.G199* NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 199 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TTCTCATAATGGAGACCTGCA 0.507000 15 92 4.7546e-09 6.53521e-09 0.004007 1 0 TRPM2 7226 broad.mit.edu 37 21 45825814 45825814 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:45825814G>T ENST00000397928.1 + 18 3129 c.2684G>T c.(2683-2685)gGg>gTg p.G895V TRPM2_ENST00000300481.9_Missense_Mutation_p.G875V|TRPM2_ENST00000397932.2_Missense_Mutation_p.G895V|TRPM2_ENST00000300482.5_Missense_Mutation_p.G895V|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 895 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTGTACCCCGGGCGCGTCATC 0.617000 26 79 1.1804e-14 1.88536e-14 0.003954 1 0 ABCA1 19 broad.mit.edu 37 9 107602707 107602707 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:107602707C>T ENST00000374736.3 - 9 1301 c.907G>A c.(907-909)Gct>Act p.A303T NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 303 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CGAGACACAGCCTGGTAGATT 0.537000 10 34 0 0 0.008291 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19199453 19199453 + Splice_Site SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:19199453T>A ENST00000375341.3 - 15 1837 c.e15-2 ALDH4A1_ENST00000538839.1_Splice_Site|ALDH4A1_ENST00000290597.5_Splice_Site|ALDH4A1_ENST00000538309.1_Splice_Site|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) CATTGGTTCCTGCGGAAAAGA 0.567000 8 46 0 0 0.003080 0 0 KIF1B 23095 broad.mit.edu 37 1 10423341 10423341 + Splice_Site SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:10423341G>T ENST00000377086.1 + 41 4507 c.4304_splice c.e41-1 p.S1435_splice KIF1B_ENST00000263934.6_Splice_Site_p.S1389_splice|KIF1B_ENST00000377081.1_Splice_Site_p.S1435_splice O60333 KIF1B_HUMAN kinesin family member 1B 1435 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CTTCAAATAGGAATCGAGTCA 0.363000 7 29 0.000442599 0.000497384 0.006214 1 0 MICU3 286097 broad.mit.edu 37 8 16942779 16942779 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:16942779G>T ENST00000318063.5 + 6 771 c.729G>T c.(727-729)atG>atT p.M243I NM_181723.2 NP_859074.1 mitochondrial calcium uptake family, member 3 CTTTCAACATGTTTGACACTG 0.328000 8 50 1.58986e-06 1.99456e-06 0.008291 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618376 77618376 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:77618376A>T ENST00000521891.2 + 2 2501 c.2053A>T c.(2053-2055)Agg>Tgg p.R685W ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R685W|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R685W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R685W NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 685 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTCACCCCAGGCTTGCCCG 0.502000 HNSCC(33;0.089) 6 77 0 0 0.001168 0 0 LILRB1 10859 broad.mit.edu 37 19 55146111 55146111 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:55146111G>T ENST00000396331.1 + 11 1737 c.1380G>T c.(1378-1380)ggG>ggT p.G460G LILRB1_ENST00000434867.2_Silent_p.G460G|LILRB1_ENST00000324602.7_Silent_p.G461G|LILRB1_ENST00000396327.3_Silent_p.G461G|LILRB1_ENST00000427581.2_Silent_p.G510G|LILRB1_ENST00000418536.2_Silent_p.G444G|LILRB1_ENST00000396315.1_Silent_p.G461G|LILRB1_ENST00000396317.1_Silent_p.G444G|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Silent_p.G460G|LILRB1_ENST00000396321.2_Silent_p.G460G|LILRB1_ENST00000448689.1_Silent_p.G460G NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 460 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGCACCTGGGGGTTGTGATCG 0.567000 HNSCC(37;0.09) 24 17 1.10513e-12 1.70974e-12 0.002299 1 0 SCGB1D4 404552 broad.mit.edu 37 11 62065047 62065047 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:62065047C>T ENST00000358585.1 - 2 192 c.139G>A c.(139-141)Gcc>Acc p.A47T NM_206998.1 NP_996881.1 Q6XE38 SG1D4_HUMAN secretoglobin, family 1D, member 4 47 extracellular region binding lung(1)|prostate(1) 2 TTAAGTTTGGCAACTTGGAGG 0.448000 29 147 0 0 0.005443 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232534943 232534943 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:232534943G>T ENST00000366630.1 - 22 5457 c.5099C>A c.(5098-5100)tCc>tAc p.S1700Y SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S756Y|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1700Y Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1700 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CGCGGTCTGGGACTCCTCCTG 0.502000 4 44 0.000602214 0.000674558 0.000602 1 0 PLXND1 23129 broad.mit.edu 37 3 129305058 129305058 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:129305058C>A ENST00000393239.1 - 4 1856 c.1678G>T c.(1678-1680)Ggt>Tgt p.G560C PLXND1_ENST00000324093.4_Missense_Mutation_p.G560C Q9Y4D7 PLXD1_HUMAN plexin D1 560 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TCCGCCGCACCCACGCAGTCC 0.697000 6 12 0.00448238 0.00483257 0.004482 1 0 VEPH1 79674 broad.mit.edu 37 3 157031456 157031456 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:157031456T>A ENST00000362010.2 - 11 2271 c.1964A>T c.(1963-1965)cAc>cTc p.H655L VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Missense_Mutation_p.H655L|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Intron|RP11-550I24.2_ENST00000475102.1_RNA NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 655 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TTCAAAGCTGTGAGCACCCCC 0.488000 5 45 0 0 0.000602 0 0 ZNF454 285676 broad.mit.edu 37 5 178392679 178392679 + Nonsense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:178392679C>G ENST00000320129.3 + 5 1577 c.1274C>G c.(1273-1275)tCa>tGa p.S425* ZNF454_ENST00000519564.1_Nonsense_Mutation_p.S425* NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) CGGGACCAATCAGCACTAGCC 0.433000 9 26 0 0 0.004482 0 0 PRR16 51334 broad.mit.edu 37 5 120021716 120021716 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:120021716A>T ENST00000379551.2 + 3 515 c.158A>T c.(157-159)aAa>aTa p.K53I PRR16_ENST00000407149.2_Missense_Mutation_p.K76I|PRR16_ENST00000446965.1_Missense_Mutation_p.K6I|PRR16_ENST00000505123.1_Missense_Mutation_p.K6I NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 76 endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) GACAGCTCCAAAACGGACACG 0.493000 10 42 0 0 0.008291 0 0 LRRC30 339291 broad.mit.edu 37 18 7231236 7231236 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:7231236C>G ENST00000383467.2 + 1 114 c.100C>G c.(100-102)Ctg>Gtg p.L34V NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 34 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGACGATGCCCTGCTCTCGGG 0.612000 29 90 0 0 0.006320 0 0 WSCD2 9671 broad.mit.edu 37 12 108634285 108634285 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:108634285A>G ENST00000332082.4 + 9 2127 c.1309A>G c.(1309-1311)Ata>Gta p.I437V WSCD2_ENST00000547525.1_Missense_Mutation_p.I437V|WSCD2_ENST00000261400.3_Missense_Mutation_p.I437V|WSCD2_ENST00000549903.1_Missense_Mutation_p.I437V Q2TBF2 WSCD2_HUMAN WSC domain containing 2 437 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CGGCGGCCACATAGGCTTTGC 0.652000 17 73 0 0 0.006122 0 0 OR2V2 285659 broad.mit.edu 37 5 180582665 180582665 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:180582665C>T ENST00000328275.1 + 1 723 c.723C>T c.(721-723)acC>acT p.T241T NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTGGCCACCTGCTCCTCCC 0.577000 14 76 0 0 0.002450 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 4 52 0 0 0.009096 0 0 RASSF9 9182 broad.mit.edu 37 12 86199250 86199250 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:86199250G>C ENST00000361228.3 - 2 906 c.538C>G c.(538-540)Cga>Gga p.R180G NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 180 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATATTATCTCGATCATGAGAA 0.363000 46 84 0 0 0.003610 0 0 ZNF366 167465 broad.mit.edu 37 5 71756824 71756824 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:71756824G>T ENST00000318442.5 - 2 990 c.500C>A c.(499-501)aCt>aAt p.T167N NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CAGGAATGGAGTGGGCGTTGG 0.642000 25 85 6.36457e-07 8.1932e-07 0.003954 1 0 NOVA1 4857 broad.mit.edu 37 14 26917552 26917552 + Silent SNP C C A rs144344947 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:26917552C>A ENST00000539517.2 - 5 1454 c.1137G>T c.(1135-1137)acG>acT p.T379T NOVA1_ENST00000267422.7_Silent_p.T257T|NOVA1_ENST00000465357.2_Silent_p.T355T NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 382 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) ATGTCCCCGCCGTACCACCAG 0.567000 11 30 0.00136819 0.00150807 0.001368 1 0 BANP 54971 broad.mit.edu 37 16 88061220 88061220 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:88061220C>T ENST00000393207.1 + 8 1224 c.1003C>T c.(1003-1005)Cgg>Tgg p.R335W BANP_ENST00000538234.1_Missense_Mutation_p.R343W|BANP_ENST00000479780.2_Missense_Mutation_p.R304W|BANP_ENST00000286122.7_Missense_Mutation_p.R335W|BANP_ENST00000355022.4_Missense_Mutation_p.R304W|BANP_ENST00000393208.2_Missense_Mutation_p.R304W|BANP_ENST00000355163.5_Missense_Mutation_p.R310W NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 335 Interaction with CUX1 and HDAC1 (By similarity).|Necessary and sufficient for TP53 activation (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) GAGCTTCTCGCGGAGAACGCC 0.682000 13 54 0 0 0.001368 0 0 WRN 7486 broad.mit.edu 37 8 30924680 30924680 + Silent SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:30924680T>C ENST00000298139.5 + 6 885 c.636T>C c.(634-636)taT>taC p.Y212Y NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 212 3'-5' exonuclease.|Interaction with WRNIP1 (By similarity). base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AGAAACTGTATGCAGCCACTG 0.343000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 5 44 0 0 0.001168 0 0 MED13L 23389 broad.mit.edu 37 12 116452946 116452946 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:116452946C>A ENST00000281928.3 - 8 1349 c.1143G>T c.(1141-1143)tgG>tgT p.W381C NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 381 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TGCATTCCTTCCAGACTCGAT 0.438000 8 61 1.06961e-07 1.39252e-07 0.003080 1 0 FAN1 22909 broad.mit.edu 37 15 31197996 31197996 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:31197996G>T ENST00000362065.4 + 2 1421 c.1130G>T c.(1129-1131)cGg>cTg p.R377L FAN1_ENST00000565466.1_Missense_Mutation_p.R377L|FAN1_ENST00000561607.1_Missense_Mutation_p.R377L|FAN1_ENST00000561594.1_Missense_Mutation_p.R377L NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 377 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding p.R377L(1) autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 TACTACCTTCGGAGTTTCCTT 0.428000 Direct reversal of damage 23 90 9.57634e-11 1.38817e-10 0.003330 1 0 FCER2 2208 broad.mit.edu 37 19 7764626 7764626 + Splice_Site SNP T T G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:7764626T>G ENST00000346664.5 - 2 233 c.22_splice c.e2+1 p.S7_splice FCER2_ENST00000597921.1_Splice_Site_p.S7_splice NM_001220500.1|NM_002002.4 NP_001207429.1|NP_001993.2 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor for (CD23) 7 positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 TCCTCCTACCTGAATATTGAC 0.562000 16 20 0 0 0.007413 0 0 BDNF 627 broad.mit.edu 37 11 27680088 27680088 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:27680088C>T ENST00000525528.1 - 1 1117 c.24G>A c.(22-24)atG>atA p.M8I BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.M8I|BDNF_ENST00000395981.3_Missense_Mutation_p.M8I|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.M8I|BDNF_ENST00000420794.1_Missense_Mutation_p.M8I|BDNF_ENST00000395978.3_Missense_Mutation_p.M8I|BDNF_ENST00000314915.6_Missense_Mutation_p.M16I|BDNF_ENST00000418212.1_Missense_Mutation_p.M8I|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000356660.4_Missense_Mutation_p.M8I|BDNF_ENST00000533131.1_Missense_Mutation_p.M8I|BDNF_ENST00000525950.1_Missense_Mutation_p.M8I|BDNF_ENST00000395986.2_Missense_Mutation_p.M23I|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.M8I|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.M8I|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.M8I|BDNF_ENST00000438929.1_Missense_Mutation_p.M90I|BDNF_ENST00000395980.2_Missense_Mutation_p.M8I NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 8 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 ATGAAATAACCATAGTAAGGA 0.493000 31 84 0 0 0.002445 0 0 SLC45A2 51151 broad.mit.edu 37 5 33964012 33964012 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:33964012C>A ENST00000382102.3 - 3 729 c.672G>T c.(670-672)ttG>ttT p.L224F SLC45A2_ENST00000296589.4_Missense_Mutation_p.L224F|SLC45A2_ENST00000342059.3_Missense_Mutation_p.L165F|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 224 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 AAGTGAGCACCAATGCAGAGA 0.512000 38 56 3.76114e-14 5.95226e-14 0.004289 1 0 ZNF467 168544 broad.mit.edu 37 7 149462585 149462585 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:149462585C>A ENST00000302017.3 - 5 1419 c.1006G>T c.(1006-1008)Gct>Tct p.A336S ZNF467_ENST00000484747.1_Intron NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGAGGAGAAGCGGACGAGTCG 0.657000 5 9 0.00116845 0.00129203 0.001168 1 0 HMGCLL1 54511 broad.mit.edu 37 6 55364050 55364050 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:55364050G>T ENST00000398661.2 - 7 811 c.680C>A c.(679-681)cCg>cAg p.P227Q HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P197Q|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.P165Q NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 227 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CACTTTTTGCGGTGTAATACT 0.318000 7 68 3.86212e-05 4.47125e-05 0.008291 1 0 COL14A1 7373 broad.mit.edu 37 8 121259915 121259915 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:121259915C>T ENST00000297848.3 + 21 2813 c.2543C>T c.(2542-2544)aCg>aTg p.T848M COL14A1_ENST00000247781.3_Missense_Mutation_p.T753M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T848M NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 848 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTGCGCATTACGTGGGACCCC 0.468000 38 84 0 0 0.007835 0 0 MUC16 94025 broad.mit.edu 37 19 9024194 9024194 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:9024194C>A ENST00000397910.4 - 18 37281 c.37078G>T c.(37078-37080)Ggg>Tgg p.G12360W NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12362 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGAGGTCCCAGGAGCTGAG 0.488000 10 15 2.80697e-09 3.90486e-09 0.000978 1 0 CSMD3 114788 broad.mit.edu 37 8 113275890 113275890 + Missense_Mutation SNP A A C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:113275890A>C ENST00000297405.5 - 61 10084 c.9840T>G c.(9838-9840)agT>agG p.S3280R CSMD3_ENST00000343508.3_Missense_Mutation_p.S3240R|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3111R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3210R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3280 Sushi 25. integral to membrane|plasma membrane p.S3240R(2)|p.S3280R(2) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTACTTCACCACTCCAGGTAC 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 41 0 0 0.001984 0 0 SYT7 9066 broad.mit.edu 37 11 61300564 61300564 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:61300564G>C ENST00000263846.4 - 4 575 c.248C>G c.(247-249)gCc>gGc p.A83G SYT7_ENST00000540677.1_Missense_Mutation_p.A158G|SYT7_ENST00000542670.1_Missense_Mutation_p.A291G|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.A127G|SYT7_ENST00000539008.1_Missense_Mutation_p.A366G|SYT7_ENST00000535826.1_Missense_Mutation_p.A202G NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 83 cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGGCACGGGGGCTGTGTTCAC 0.662000 12 51 0 0 0.002450 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65721153 65721153 + RNA SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:65721153G>A ENST00000532620.1 + 0 1498 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 GGCAGCCTACGCACCCAGAGG 0.741000 21 28 0 0 0.008871 0 0 SCN3A 6328 broad.mit.edu 37 2 166003311 166003311 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:166003311A>T ENST00000360093.3 - 12 2100 c.1609T>A c.(1609-1611)Ttc>Atc p.F537I SCN3A_ENST00000409101.3_Missense_Mutation_p.F537I|SCN3A_ENST00000283254.7_Missense_Mutation_p.F537I NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 537 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GAGAAAAGGAAGCTGCTTCTT 0.428000 19 91 0 0 0.006122 0 0 OR5D16 390144 broad.mit.edu 37 11 55607071 55607071 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:55607071G>T ENST00000378396.1 + 1 844 c.844G>T c.(844-846)Gtg>Ttg p.V282L NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V282M(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GTTTTACACCGTGGTGATCCC 0.413000 13 52 0.000151284 0.000173399 0.001855 1 0 TCF12 6938 broad.mit.edu 37 15 57524917 57524917 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:57524917C>T ENST00000267811.5 + 11 1137 c.833C>T c.(832-834)cCt>cTt p.P278L TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Missense_Mutation_p.P278L|TCF12_ENST00000452095.2_Missense_Mutation_p.P274L|TCF12_ENST00000537840.1_Missense_Mutation_p.P42L|TCF12_ENST00000333725.5_Missense_Mutation_p.P278L|TCF12_ENST00000343827.3_Missense_Mutation_p.P108L|TCF12_ENST00000543579.1_Missense_Mutation_p.P108L|TCF12_ENST00000438423.2_Missense_Mutation_p.P278L NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 278 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TAGAGTTATCCTCCACACTCA 0.383000 T TEC extraskeletal myxoid chondrosarcoma 4 23 0 0 0.009096 0 0 EYA2 2139 broad.mit.edu 37 20 45801492 45801492 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:45801492A>T ENST00000327619.5 + 12 1549 c.1175A>T c.(1174-1176)aAt>aTt p.N392I EYA2_ENST00000357410.3_Missense_Mutation_p.N392I|EYA2_ENST00000317304.6_Missense_Mutation_p.N362I NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 392 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) GAGATGTACAATACCTACAAG 0.602000 15 52 0 0 0.002450 0 0 LRRC32 2615 broad.mit.edu 37 11 76371795 76371795 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:76371795G>T ENST00000407242.2 - 3 1084 c.842C>A c.(841-843)aCa>aAa p.T281K LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.T281K|LRRC32_ENST00000260061.5_Missense_Mutation_p.T281K NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 281 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GGGTGGCCCTGTGGGGAGCCG 0.657000 27 25 4.72057e-08 6.26384e-08 0.003954 1 0 TACC2 10579 broad.mit.edu 37 10 123976300 123976300 + Silent SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:123976300G>C ENST00000369005.1 + 11 7843 c.7503G>C c.(7501-7503)ctG>ctC p.L2501L TACC2_ENST00000369004.3_Silent_p.L591L|TACC2_ENST00000368999.1_Silent_p.L591L|TACC2_ENST00000515273.1_Silent_p.L2505L|TACC2_ENST00000358010.1_Silent_p.L647L|TACC2_ENST00000360561.3_Silent_p.L579L|TACC2_ENST00000515603.1_Silent_p.L2456L|TACC2_ENST00000369001.1_Silent_p.L205L|TACC2_ENST00000334433.3_Silent_p.L2501L|TACC2_ENST00000513429.1_Silent_p.L647L|TACC2_ENST00000369000.1_Silent_p.L201L|TACC2_ENST00000260733.3_Silent_p.L579L|TACC2_ENST00000453444.2_Silent_p.L2505L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2501 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCTCGGACCTGTCCACCTTTG 0.562000 25 80 0 0 0.003330 0 0 WSCD2 9671 broad.mit.edu 37 12 108589931 108589931 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:108589931G>T ENST00000332082.4 + 3 1140 c.322G>T c.(322-324)Ggt>Tgt p.G108C WSCD2_ENST00000547525.1_Missense_Mutation_p.G108C|WSCD2_ENST00000261400.3_Missense_Mutation_p.G108C|WSCD2_ENST00000549903.1_Missense_Mutation_p.G108C Q2TBF2 WSCD2_HUMAN WSC domain containing 2 108 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TGGCGACTACGGTGGAGCCTG 0.607000 15 59 2.61681e-11 3.85812e-11 0.002450 1 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047942 46047942 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:46047942C>T ENST00000397911.3 + 1 903 c.854C>T c.(853-855)tCc>tTc p.S285F TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 285 keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 TACAGCTTCTCCTCAGGCCAG 0.701000 27 63 0 0 0.007291 0 0 MUM1 84939 broad.mit.edu 37 19 1360189 1360189 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:1360189C>T ENST00000311401.5 + 5 451 c.65C>T c.(64-66)tCg>tTg p.S22L MUM1_ENST00000415183.3_Missense_Mutation_p.S91L|MUM1_ENST00000344663.3_Missense_Mutation_p.S91L|MUM1_ENST00000591806.1_Missense_Mutation_p.S91L Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 90 chromatin organization|DNA repair nucleus nucleosome binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACAGACGGTCGCTTCGCGTG 0.587000 OREG0025088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 52 0 0 0.003163 0 0 HDAC9 9734 broad.mit.edu 37 7 18788664 18788664 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:18788664G>T ENST00000406451.3 + 14 2087 c.1937G>T c.(1936-1938)tGc>tTc p.C646F HDAC9_ENST00000441542.2_Missense_Mutation_p.C649F|HDAC9_ENST00000432645.2_Missense_Mutation_p.C646F|HDAC9_ENST00000401921.1_Missense_Mutation_p.C605F NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 646 Histone deacetylase. HQCV -> KPNS (in Ref. 8; AAF04254). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AAACACCAGTGCGTTTGTGGC 0.448000 6 26 2.7689e-08 3.73152e-08 0.001984 1 0 GRM7 2917 broad.mit.edu 37 3 6903146 6903146 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:6903146T>A ENST00000486284.1 + 1 345 c.71T>A c.(70-72)cTc>cAc p.L24H GRM7_ENST00000402647.2_Missense_Mutation_p.L24H|GRM7_ENST00000403881.1_Missense_Mutation_p.L24H|GRM7_ENST00000357716.4_Missense_Mutation_p.L24H|GRM7_ENST00000389336.4_Missense_Mutation_p.L24H NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 24 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CTGGAGGTGCTCCTGTGCGCG 0.706000 4 8 0 0 0.009096 0 0 GABRA1 2554 broad.mit.edu 37 5 161300189 161300189 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:161300189A>G ENST00000428797.2 + 6 677 c.322A>G c.(322-324)Atg>Gtg p.M108V GABRA1_ENST00000437025.2_Missense_Mutation_p.M108V|GABRA1_ENST00000444819.1_Missense_Mutation_p.M108V|GABRA1_ENST00000393943.4_Missense_Mutation_p.M108V|GABRA1_ENST00000023897.6_Missense_Mutation_p.M108V|GABRA1_ENST00000420560.1_Missense_Mutation_p.M108V NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 108 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TAAAGGACCTATGACAGTCCT 0.383000 11 67 0 0 0.000978 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37349801 37349801 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:37349801C>A ENST00000233057.4 - 12 1237 c.915G>T c.(913-915)gcG>gcT p.A305A EIF2AK2_ENST00000395127.2_Silent_p.A305A|EIF2AK2_ENST00000405334.1_Silent_p.A264A NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 305 Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) CTTCACGCTCCGCCTTCCTAG 0.413000 9 45 0.00448238 0.00483257 0.004482 1 0 LHX8 431707 broad.mit.edu 37 1 75596413 75596413 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:75596413G>C ENST00000294638.5 + 2 678 c.14G>C c.(13-15)aGc>aCc p.S5T RP11-510C10.2_ENST00000446238.1_RNA|RP11-510C10.3_ENST00000427892.1_RNA NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 5 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 CAGATTCTGAGCAGGGTAAGT 0.448000 14 67 0 0 0.004007 0 0 COBL 23242 broad.mit.edu 37 7 51261079 51261079 + Silent SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:51261079A>G ENST00000395542.2 - 3 637 c.453T>C c.(451-453)ccT>ccC p.P151P COBL_ENST00000395540.2_Silent_p.P151P|COBL_ENST00000441453.1_Silent_p.P151P|COBL_ENST00000265136.7_Silent_p.P151P O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 151 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TACTAACCTCAGGCACCTTAG 0.463000 6 22 0 0 0.001168 0 0 PKP1 5317 broad.mit.edu 37 1 201291167 201291167 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:201291167C>A ENST00000263946.3 + 9 1723 c.1472C>A c.(1471-1473)cCc>cAc p.P491H PKP1_ENST00000367324.3_Missense_Mutation_p.P470H|PKP1_ENST00000352845.3_Missense_Mutation_p.P491H NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 491 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 GCCGAGGTGCCCACCCGCTAC 0.607000 16 39 0.00316338 0.00344279 0.003163 1 0 CYP7A1 1581 broad.mit.edu 37 8 59407086 59407086 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:59407086G>T ENST00000301645.3 - 4 1155 c.1018C>A c.(1018-1020)Ctg>Atg p.L340M NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 340 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AGGTCATTCAGTTCTGCTTGA 0.353000 Neonatal Giant Cell Hepatitis 6 53 0.00116845 0.00129203 0.001168 1 0 E2F8 79733 broad.mit.edu 37 11 19252381 19252381 + Splice_Site SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:19252381C>A ENST00000527884.1 - 8 1299 c.1066_splice c.e8-1 p.G356_splice RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Splice_Site_p.G356_splice NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 356 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGGGCTGGAGCCTGAAACAGA 0.413000 11 24 4.68919e-08 6.24622e-08 0.008291 1 0 NFASC 23114 broad.mit.edu 37 1 204948500 204948500 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:204948500C>T ENST00000367172.4 + 19 2317 c.1989C>T c.(1987-1989)gtC>gtT p.V663V NFASC_ENST00000339876.6_Silent_p.V663V|NFASC_ENST00000367169.4_Silent_p.V663V|NFASC_ENST00000338586.6_Silent_p.V663V|NFASC_ENST00000367171.4_Silent_p.V648V|NFASC_ENST00000404076.1_Silent_p.V642V|NFASC_ENST00000539706.1_Silent_p.V659V|NFASC_ENST00000338515.6_Silent_p.V663V|NFASC_ENST00000401399.1_Silent_p.V663V|NFASC_ENST00000360049.4_Silent_p.V659V|NFASC_ENST00000404907.1_Silent_p.V659V|NFASC_ENST00000513543.1_Silent_p.V659V|NFASC_ENST00000367170.4_Silent_p.V663V O94856 NFASC_HUMAN neurofascin 663 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACTACGTCGTCCAGTTTGAAG 0.522000 40 68 0 0 0.006999 0 0 PLAGL2 5326 broad.mit.edu 37 20 30785287 30785287 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:30785287G>A ENST00000246229.4 - 3 723 c.459C>T c.(457-459)agC>agT p.S153S NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 153 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGAGGTCACCGCTGCTGGCAG 0.602000 4 31 0 0 0.009096 0 0 GBP3 2635 broad.mit.edu 37 1 89477519 89477519 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:89477519G>T ENST00000370481.4 - 7 1280 c.1060C>A c.(1060-1062)Ctg>Atg p.L354M NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 354 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) ACCCTGTGCAGGTCCAGCAGC 0.502000 24 54 5.35356e-11 7.79315e-11 0.002780 1 0 SATB2 23314 broad.mit.edu 37 2 200193550 200193550 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:200193550C>A ENST00000443023.1 - 7 2545 c.1080G>T c.(1078-1080)caG>caT p.Q360H SATB2_ENST00000260926.5_Missense_Mutation_p.Q419H|SATB2_ENST00000417098.1_Missense_Mutation_p.Q419H|SATB2_ENST00000428695.1_Missense_Mutation_p.Q301H|SATB2_ENST00000457245.1_Missense_Mutation_p.Q419H|RP11-486F17.1_ENST00000489557.2_RNA Q9UPW6 SATB2_HUMAN SATB homeobox 2 419 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGAGGAAATTCTGCATGGCCC 0.517000 8 34 1.12685e-05 1.36889e-05 0.004482 1 0 SLITRK2 84631 broad.mit.edu 37 X 144906140 144906140 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:144906140C>A ENST00000370490.1 + 1 6452 c.2197C>A c.(2197-2199)Cct>Act p.P733T SLITRK2_ENST00000413937.2_Missense_Mutation_p.P733T|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P733T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P733T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P733T Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 733 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GCCAGCCACACCTGCTTACAC 0.483000 55 39 1.57914e-17 2.60672e-17 0.003610 1 0 MYOF 26509 broad.mit.edu 37 10 95129512 95129512 + Missense_Mutation SNP C C T rs149848851 by1000genomes TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:95129512C>T ENST00000371501.4 - 25 2601 c.2479G>A c.(2479-2481)Ggg>Agg p.G827R MYOF_ENST00000359263.4_Missense_Mutation_p.G827R|MYOF_ENST00000371502.4_Missense_Mutation_p.G827R|MYOF_ENST00000358334.5_Missense_Mutation_p.G814R Q9NZM1 MYOF_HUMAN myoferlin 827 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ACCTTTGGCCCGTTGTTTTTC 0.443000 6 27 0 0 0.001168 0 0 RREB1 6239 broad.mit.edu 37 6 7229815 7229815 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:7229815G>T ENST00000379938.2 + 10 2020 c.1483G>T c.(1483-1485)Gcc>Tcc p.A495S RREB1_ENST00000334984.6_Missense_Mutation_p.A495S|RREB1_ENST00000379933.3_Missense_Mutation_p.A495S|RREB1_ENST00000349384.6_Missense_Mutation_p.A495S NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 495 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGCCCCTGCCGCCCCACTGCA 0.642000 28 501 3.80469e-20 6.49812e-20 0.009535 1 0 SLC8A1 6546 broad.mit.edu 37 2 40655869 40655869 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:40655869G>A ENST00000406785.1 - 2 1741 c.1552C>T c.(1552-1554)Ctt>Ttt p.L518F SLC8A1_ENST00000332839.4_Missense_Mutation_p.L518F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.L518F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.L518F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.L518F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.L518F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.L518F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.L518F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.L518F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.L518F P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 518 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGGCAAGCAAGTGTAGAAACA 0.433000 12 37 0 0 0.000978 0 0 SSH2 85464 broad.mit.edu 37 17 27958980 27958980 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:27958980T>A ENST00000269033.3 - 15 3302 c.3151A>T c.(3151-3153)Act>Tct p.T1051S RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.T1078S NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 1051 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAGAGCACAGTGACAGATTTT 0.517000 53 48 0 0 0.003610 0 0 STAT5B 6777 broad.mit.edu 37 17 40384145 40384145 + Translation_Start_Site SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:40384145T>C ENST00000293328.3 - 2 169 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 1 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) CACACAGCCATGGTTTACAAT 0.423000 10 38 0 0 0.008291 0 0 OR2B2 81697 broad.mit.edu 37 6 27879515 27879515 + Missense_Mutation SNP T T G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:27879515T>G ENST00000303324.2 - 1 659 c.583A>C c.(583-585)Aat>Cat p.N195H NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 TCAGCCTCATTTGCTGTTGTG 0.433000 15 84 0 0 0.002450 0 0 NDUFA10 4705 broad.mit.edu 37 2 240944656 240944656 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:240944656G>C ENST00000252711.2 - 8 961 c.861C>G c.(859-861)gaC>gaG p.D287E NDUFA10_ENST00000307300.4_Missense_Mutation_p.D317E|NDUFA10_ENST00000404554.1_Missense_Mutation_p.D287E NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 287 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AAGTGCGATTGTCCTGCTTGA 0.458000 20 92 0 0 0.001882 0 0 OR52E6 390078 broad.mit.edu 37 11 5862466 5862466 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:5862466C>A ENST00000329322.5 - 1 661 c.662G>T c.(661-663)aGg>aTg p.R221M TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.R225M NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATAGAGGATCCTGATATGGGA 0.463000 10 31 0.00621372 0.00667829 0.006214 1 0 PRKCDBP 112464 broad.mit.edu 37 11 6341340 6341340 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:6341340G>A ENST00000303927.3 - 1 537 c.367C>T c.(367-369)Cac>Tac p.H123Y PRKCDBP_ENST00000530979.1_Missense_Mutation_p.H123Y NM_145040.2 NP_659477.2 Q969G5 PRDBP_HUMAN protein kinase C, delta binding protein 123 large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGCAGAACGTGGAGCTTCCCG 0.706000 3 18 0 0 0.009096 0 0 DCHS2 54798 broad.mit.edu 37 4 155219858 155219858 + Nonsense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:155219858C>A ENST00000357232.3 - 18 4242 c.4243G>T c.(4243-4245)Gga>Tga p.G1415* NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1415 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCAGTATTTCCATCTATTAAA 0.333000 8 39 3.86212e-05 4.47125e-05 0.008291 1 0 ATP10B 23120 broad.mit.edu 37 5 160025868 160025868 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:160025868G>T ENST00000327245.5 - 22 4319 c.3473C>A c.(3472-3474)cCt>cAt p.P1158H NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1158 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACAAGAGGAGGCAAGGAGGT 0.458000 43 107 2.95478e-19 4.94853e-19 0.008740 1 0 FAM198B 51313 broad.mit.edu 37 4 159091588 159091588 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:159091588T>A ENST00000592057.1 - 2 1342 c.940A>T c.(940-942)Agc>Tgc p.S314C FAM198B_ENST00000393807.5_Intron|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000296530.8_Intron Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 0 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 CCCCAACAGCTGCAAATAACG 0.478000 15 37 0 0 0.002450 0 0 GPR112 139378 broad.mit.edu 37 X 135430302 135430302 + Silent SNP A A C rs149471297 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:135430302A>C ENST00000394143.1 + 6 4728 c.4437A>C c.(4435-4437)acA>acC p.T1479T GPR112_ENST00000287534.4_Silent_p.T1416T|GPR112_ENST00000412101.1_Silent_p.T1274T|GPR112_ENST00000394141.1_Silent_p.T1274T|GPR112_ENST00000370652.1_Silent_p.T1479T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1479 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACGGTTTTACAGTTCTCTCCG 0.443000 63 41 0 0 0.003610 0 0 TCERG1L 256536 broad.mit.edu 37 10 132965122 132965122 + Missense_Mutation SNP C C T rs145806750 by1000genomes TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:132965122C>T ENST00000368642.4 - 5 968 c.883G>A c.(883-885)Gcc>Acc p.A295T NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 295 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) GGAGGGCGGGCCACTCGGCCC 0.512000 10 29 0 0 0.008291 0 0 MYO3B 140469 broad.mit.edu 37 2 171262076 171262076 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:171262076G>A ENST00000334231.6 + 21 2480 c.2480G>A c.(2479-2481)cGa>cAa p.R827Q MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.R818Q|MYO3B_ENST00000409044.3_Missense_Mutation_p.R818Q Q8WXR4 MYO3B_HUMAN myosin IIIB 818 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GATAATCTACGATGCAAATAC 0.388000 17 33 0 0 0.004007 0 0 KIAA0368 23392 broad.mit.edu 37 9 114134778 114134778 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:114134778C>G ENST00000259335.4 - 43 4992 c.4993G>C c.(4993-4995)Gct>Cct p.A1665P KIAA0368_ENST00000338205.5_Missense_Mutation_p.A1487P|KIAA0368_ENST00000374378.3_5'UTR NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TCCTCATCAGCAATTTCATGC 0.413000 12 47 0 0 0.000978 0 0 GFPT1 2673 broad.mit.edu 37 2 69575396 69575396 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:69575396G>A ENST00000357308.4 - 11 1094 c.916C>T c.(916-918)Cgt>Tgt p.R306C GFPT1_ENST00000361060.4_Missense_Mutation_p.R288C NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 306 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 ATAGAAAGACGTCCATCCACT 0.448000 20 60 0 0 0.007413 0 0 CSMD1 64478 broad.mit.edu 37 8 2824155 2824155 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:2824155C>G ENST00000520002.1 - 59 9595 c.9040G>C c.(9040-9042)Ggg>Cgg p.G3014R CSMD1_ENST00000537824.1_Missense_Mutation_p.G3013R|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3014R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3014 Sushi 23. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTCATGAGCCCTGAGGTCTTG 0.537000 9 14 0 0 0.004482 0 0 MC5R 4161 broad.mit.edu 37 18 13825772 13825772 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:13825772C>A ENST00000324750.3 + 1 230 c.8C>A c.(7-9)tCc>tAc p.S3Y NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 3 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GCAATGAATTCCTCATTTCAC 0.408000 18 61 1.67942e-08 2.2811e-08 0.006122 1 0 ARMC3 219681 broad.mit.edu 37 10 23321943 23321943 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:23321943G>T ENST00000298032.5 + 18 2484 c.2400G>T c.(2398-2400)ttG>ttT p.L800F ARMC3_ENST00000376528.4_Missense_Mutation_p.L537F|ARMC3_ENST00000409983.3_Missense_Mutation_p.L793F NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 800 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATCGAGCTTTGCTTTTCAAGG 0.363000 5 53 0.00198382 0.00216588 0.001984 1 0 OR1N2 138882 broad.mit.edu 37 9 125316284 125316284 + Missense_Mutation SNP C C A rs142706201 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:125316284C>A ENST00000373688.2 + 1 894 c.836C>A c.(835-837)cCt>cAt p.P279H NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 TATTTACTTCCTCCATCAACT 0.458000 18 48 1.78486e-19 3.00379e-19 0.007413 1 0 VTN 7448 broad.mit.edu 37 17 26695911 26695911 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:26695911G>T ENST00000226218.4 - 5 1426 c.808C>A c.(808-810)Cgg>Agg p.R270R CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR NM_000638.3 NP_000629.3 P04004 VTNC_HUMAN vitronectin 270 Hemopexin-like 3. cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity p.R270W(1) kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) AAGTAGACCCGCTCCCGGCCA 0.587000 56 62 4.46115e-38 8.0581e-38 0.003610 1 0 NDST4 64579 broad.mit.edu 37 4 115856477 115856477 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:115856477T>C ENST00000264363.2 - 6 2099 c.1421A>G c.(1420-1422)cAg>cGg p.Q474R NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 474 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCCACAAGTCTGTCGAGGGAG 0.403000 5 27 0 0 0.000602 0 0 NXPE1 120400 broad.mit.edu 37 11 114393211 114393211 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:114393211C>G ENST00000536271.1 - 4 1514 c.271G>C c.(271-273)Gat>Cat p.D91H NXPE1_ENST00000251921.2_Missense_Mutation_p.D233H|NXPE1_ENST00000424269.1_Missense_Mutation_p.D375H neurexophilin and PC-esterase domain family, member 1 TCATGAAGATCAAAAAACTTC 0.303000 23 9 0 0 0.001882 0 0 FAM131B 9715 broad.mit.edu 37 7 143053838 143053838 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:143053838C>A ENST00000409408.1 - 6 2512 c.804G>T c.(802-804)ctG>ctT p.L268L FAM131B_ENST00000409578.1_Silent_p.L284L|FAM131B_ENST00000409222.3_Silent_p.L268L|FAM131B_ENST00000409346.1_Silent_p.L268L|FAM131B_ENST00000443739.2_Silent_p.L296L Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 268 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GGCCCCTTGCCAGGTCCACTG 0.632000 24 172 5.45024e-15 8.86949e-15 0.003330 1 0 SHC1 6464 broad.mit.edu 37 1 154942963 154942963 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:154942963G>A ENST00000448116.2 - 1 260 c.40C>T c.(40-42)Cgg>Tgg p.R14W SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Missense_Mutation_p.R14W|SHC1_ENST00000368445.5_Missense_Mutation_p.R14W|SHC1_ENST00000368449.4_5'UTR|SHC1_ENST00000368453.4_Intron NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 14 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GACTCATTCCGGAGTGGATTG 0.642000 10 144 0 0 0.008291 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65219162 65219162 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:65219162C>T ENST00000380230.3 + 6 563 c.534C>T c.(532-534)ctC>ctT p.L178L ANKDD1A_ENST00000496660.1_Silent_p.L87L|ANKDD1A_ENST00000491145.1_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395720.1_Silent_p.L178L|ANKDD1A_ENST00000357698.3_Silent_p.L178L|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000395723.1_Silent_p.L87L NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 178 signal transduction p.L178L(1) NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 TGGACTTCCTCGTGGGCTCTG 0.612000 11 45 0 0 0.001368 0 0 PRDM9 56979 broad.mit.edu 37 5 23524524 23524524 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:23524524C>T ENST00000296682.3 + 10 1214 c.1032C>T c.(1030-1032)tgC>tgT p.C344C NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 344 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATAGAACCTGCCGAGTCATTA 0.547000 HNSCC(3;0.000094) 53 63 0 0 0.003610 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135892886 135892886 + Silent SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:135892886A>T ENST00000264158.8 + 16 1594 c.1551A>T c.(1549-1551)ctA>ctT p.L517L RAB3GAP1_ENST00000442034.1_Silent_p.L517L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Silent_p.L473L NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 517 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) ATCAGAAACTACAGGTAAAGA 0.333000 4 17 0 0 0.009096 0 0 OR2C3 81472 broad.mit.edu 37 1 247695565 247695565 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:247695565C>A ENST00000366487.3 - 2 610 c.249G>T c.(247-249)ctG>ctT p.L83L GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGAGGTTAGCCAGGAGCTGTG 0.542000 15 39 2.32078e-09 3.24158e-09 0.003163 1 0 MROH9 80133 broad.mit.edu 37 1 170931105 170931105 + Silent SNP A A C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:170931105A>C ENST00000367759.4 + 6 517 c.363A>C c.(361-363)ctA>ctC p.L121L MROH9_ENST00000367758.3_Silent_p.L121L NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TCTACAAACTACAGATCTTAA 0.308000 4 16 0 0 0.000602 0 0 KDM6B 23135 broad.mit.edu 37 17 7754426 7754426 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:7754426A>G ENST00000254846.5 + 14 4150 c.3761A>G c.(3760-3762)gAt>gGt p.D1254G KDM6B_ENST00000448097.2_Missense_Mutation_p.D1254G NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1254 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CAGCCCTCAGATGAGAACTGG 0.602000 8 48 0 0 0.003080 0 0 TMEM98 26022 broad.mit.edu 37 17 31258575 31258575 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:31258575G>T ENST00000579849.1 + 3 460 c.29G>T c.(28-30)gGt>gTt p.G10V TMEM98_ENST00000394642.3_Missense_Mutation_p.G10V|TMEM98_ENST00000578289.1_Missense_Mutation_p.G10V NM_015544.2 NP_056359.2 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 10 endoplasmic reticulum|integral to membrane kidney(2)|large_intestine(1) 3 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) GTTGCCATAGGTGTGCTGGCC 0.562000 9 7 5.50884e-06 6.71572e-06 0.001368 1 0 PABPN1 8106 broad.mit.edu 37 14 23792633 23792633 + Silent SNP C C G rs150035782 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:23792633C>G ENST00000397276.2 + 4 595 c.582C>G c.(580-582)ggC>ggG p.G194G PABPN1_ENST00000557702.1_Silent_p.G66G|PABPN1_ENST00000556821.1_Silent_p.G66G|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.G221G|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.G221G|PABPN1_ENST00000216727.4_Silent_p.G194G poly(A) binding protein, nuclear 1 large_intestine(1)|lung(1)|ovary(2) 4 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) ACTTTCATGGCTGTGGTTCAG 0.433000 10 86 0 0 0.001855 0 0 OR9G1 390174 broad.mit.edu 37 11 56468517 56468517 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:56468517C>T ENST00000312153.1 + 1 654 c.654C>T c.(652-654)ctC>ctT p.L218L NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 CCTCCTACCTCTTTATCATCA 0.527000 10 201 0 0 0.004007 0 0 TENM2 57451 broad.mit.edu 37 5 167674702 167674702 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:167674702G>T ENST00000519204.1 + 26 6513 c.6395G>T c.(6394-6396)cGg>cTg p.R2132L TENM2_ENST00000545108.1_Missense_Mutation_p.R2252L|TENM2_ENST00000518659.1_Missense_Mutation_p.R2253L|TENM2_ENST00000520394.1_Missense_Mutation_p.R2014L|TENM2_ENST00000403607.2_Missense_Mutation_p.R2077L teneurin transmembrane protein 2 CTCCGGGATCGGATAACCAGA 0.532000 17 40 4.75885e-15 7.78106e-15 0.004990 1 0 NLRP4 147945 broad.mit.edu 37 19 56369436 56369436 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:56369436T>C ENST00000301295.6 + 3 1099 c.677T>C c.(676-678)cTc>cCc p.L226P NLRP4_ENST00000587891.1_Missense_Mutation_p.L151P|NLRP4_ENST00000346986.5_Missense_Mutation_p.L226P NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 226 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCGGAGAGACTCTTGTTCGTC 0.562000 24 71 0 0 0.002780 0 0 CCKAR 886 broad.mit.edu 37 4 26490886 26490886 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:26490886G>T ENST00000295589.3 - 2 527 c.333C>A c.(331-333)agC>agA p.S111R NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 111 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) TGCAAACGGCGCTCCCGAAGA 0.557000 47 591 1.06522e-23 1.82836e-23 0.003214 1 0 MYLK3 91807 broad.mit.edu 37 16 46766575 46766575 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:46766575G>T ENST00000394809.4 - 4 1122 c.1007C>A c.(1006-1008)tCc>tAc p.S336Y MYLK3_ENST00000536476.1_5'UTR NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 336 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TATGTGGATGGAGATCCTGGG 0.572000 6 10 3.59834e-05 4.22254e-05 0.001168 1 0 OPTC 26254 broad.mit.edu 37 1 203472092 203472092 + Silent SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:203472092T>C ENST00000367222.2 + 6 899 c.783T>C c.(781-783)tcT>tcC p.S261S NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 261 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) TGCTGGATTCTATCCCGGGGC 0.557000 12 47 0 0 0.000978 0 0 SLC13A3 64849 broad.mit.edu 37 20 45195002 45195002 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:45195002C>A ENST00000279027.4 - 11 1378 c.1360G>T c.(1360-1362)Ggg>Tgg p.G454W SLC13A3_ENST00000396360.1_Missense_Mutation_p.G372W|SLC13A3_ENST00000290317.5_Missense_Mutation_p.G407W|SLC13A3_ENST00000472148.1_Missense_Mutation_p.G372W|SLC13A3_ENST00000495082.1_Missense_Mutation_p.G407W|SLC13A3_ENST00000435032.1_Missense_Mutation_p.G39W|SLC13A3_ENST00000413164.2_Missense_Mutation_p.G404W NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 454 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) TGCAGCTGCCCACCAATCCAT 0.617000 25 97 3.01185e-09 4.17304e-09 0.003954 1 0 SAMD14 201191 broad.mit.edu 37 17 48190269 48190269 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:48190269G>T ENST00000330175.4 - 10 1559 c.1242C>A c.(1240-1242)gcC>gcA p.A414A SAMD14_ENST00000503131.1_Silent_p.A442A NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 414 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 AGCTCTTCTTGGCCTCCTGCT 0.701000 21 48 1.96292e-10 2.8217e-10 0.010504 1 0 TNFRSF4 7293 broad.mit.edu 37 1 1147438 1147438 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:1147438G>C ENST00000379236.3 - 5 522 c.518C>G c.(517-519)gCc>gGc p.A173G TNFRSF4_ENST00000453580.1_5'UTR NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 173 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGGCTGCGTGGCTGGGGGGTC 0.687000 5 16 0 0 0.001168 0 0 AMZ1 155185 broad.mit.edu 37 7 2740255 2740255 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:2740255C>T ENST00000312371.4 + 2 538 c.170C>T c.(169-171)aCc>aTc p.T57I AMZ1_ENST00000407112.1_Missense_Mutation_p.T57I NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 57 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) CTCTTCTGCACCCTGCTCATC 0.677000 40 122 0 0 0.005524 0 0 GRHL2 79977 broad.mit.edu 37 8 102570830 102570830 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:102570830G>T ENST00000251808.3 + 4 806 c.468G>T c.(466-468)acG>acT p.T156T GRHL2_ENST00000395927.1_Silent_p.T140T NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 156 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) CGGGAATCACGGTGGTGAAAG 0.522000 79 76 1.63007e-36 2.89884e-36 0.003610 1 0 PLCXD3 345557 broad.mit.edu 37 5 41381978 41381978 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:41381978G>T ENST00000377801.3 - 2 836 c.762C>A c.(760-762)agC>agA p.S254R PLCXD3_ENST00000328457.3_Missense_Mutation_p.S254R Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 254 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TGACCACAGTGCTAGCTTTGG 0.438000 22 96 7.92952e-12 1.18428e-11 0.003954 1 0 CPA6 57094 broad.mit.edu 37 8 68423860 68423860 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:68423860C>A ENST00000297770.4 - 4 563 c.348G>T c.(346-348)ctG>ctT p.L116L CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Silent_p.L116L NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 116 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTCCCTTCTCCAGTGTTTTCT 0.383000 27 236 9.39395e-14 1.47314e-13 0.006320 1 0 NFATC3 4775 broad.mit.edu 37 16 68156767 68156767 + Silent SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:68156767A>T ENST00000349223.5 + 2 1205 c.981A>T c.(979-981)ccA>ccT p.P327P NFATC3_ENST00000346183.3_Silent_p.P327P|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Silent_p.P327P|NFATC3_ENST00000575270.1_Silent_p.P327P NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 327 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CAGTTTTTCCATTTCAGTACT 0.483000 19 94 0 0 0.006122 0 0 GPX1 2876 broad.mit.edu 37 3 49394909 49394909 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:49394909G>A ENST00000419783.1 - 2 845 c.524C>T c.(523-525)cCc>cTc p.P175L GPX1_ENST00000419349.1_3'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 175 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CCTGCGTAGGGGCACACCGTC 0.617000 10 33 0 0 0.001368 0 0 WDR16 146845 broad.mit.edu 37 17 9489141 9489141 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:9489141A>T ENST00000352665.5 + 2 191 c.122A>T c.(121-123)tAt>tTt p.Y41F WDR16_ENST00000299764.5_Missense_Mutation_p.Y51F|WDR16_ENST00000396219.3_Intron NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 41 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 CATATGATTTATCCTCTTGGT 0.463000 22 83 0 0 0.001882 0 0 ARL13B 200894 broad.mit.edu 37 3 93761947 93761947 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:93761947A>T ENST00000535334.1 + 6 1101 c.578A>T c.(577-579)gAg>gTg p.E193V ARL13B_ENST00000394222.3_Missense_Mutation_p.E296V|ARL13B_ENST00000539730.1_Missense_Mutation_p.E17V|ARL13B_ENST00000303097.7_Missense_Mutation_p.E189V|ARL13B_ENST00000471138.1_Missense_Mutation_p.E296V NM_001174151.1 NP_001167622.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 296 GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 ATGGAGCATGAGCAAATAGAG 0.343000 3 20 0 0 0.009096 0 0 LAMB4 22798 broad.mit.edu 37 7 107756519 107756519 + Missense_Mutation SNP G G T rs140462508 byFrequency TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:107756519G>T ENST00000388781.3 - 3 205 c.122C>A c.(121-123)aCg>aAg p.T41K LAMB4_ENST00000388780.3_Missense_Mutation_p.T41K|LAMB4_ENST00000414450.2_Missense_Mutation_p.T41K|LAMB4_ENST00000205386.4_Missense_Mutation_p.T41K NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 41 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CATAAGCTGCGTGTTCCTGCC 0.522000 15 99 1.3612e-06 1.72653e-06 0.003163 1 0 DYDC1 143241 broad.mit.edu 37 10 82102070 82102070 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:82102070C>T ENST00000421924.2 - 4 708 c.297G>A c.(295-297)agG>agA p.R99R DYDC1_ENST00000372204.3_Silent_p.R99R|DYDC1_ENST00000372202.1_Silent_p.R99R Q8WWB3 DYDC1_HUMAN DPY30 domain containing 1 99 kidney(1)|large_intestine(3)|skin(1) 5 Colorectal(32;0.229) GTATTCTCTGCCTCTCCTTTT 0.323000 12 53 0 0 0.000978 0 0 TPTE 7179 broad.mit.edu 37 21 10920121 10920121 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:10920121T>A ENST00000298232.7 - 18 1446 c.1079A>T c.(1078-1080)cAc>cTc p.H360L TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.H378L|TPTE_ENST00000342420.5_Missense_Mutation_p.H340L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 378 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTTTCGCTGTGGGTTTTATC 0.383000 6 46 0 0 0.001168 0 0 TMEM130 222865 broad.mit.edu 37 7 98460868 98460868 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:98460868G>A ENST00000339375.4 - 2 415 c.241C>T c.(241-243)Ctt>Ttt p.L81F TMEM130_ENST00000450876.1_5'UTR|TMEM130_ENST00000546258.1_Missense_Mutation_p.L62F|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000416379.2_Missense_Mutation_p.L81F NM_001134450.1|NM_152913.2 NP_001127922.1|NP_690877.1 Q8N3G9 TM130_HUMAN transmembrane protein 130 81 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTGCCAGTAAGCACCAGCGGG 0.657000 15 24 0 0 0.003163 0 0 PTGFR 5737 broad.mit.edu 37 1 79002247 79002247 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:79002247G>T ENST00000370757.3 + 3 1192 c.955G>T c.(955-957)Gcc>Tcc p.A319S PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.A319S NM_000959.3 NP_000950.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 319 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CTATAAGCTTGCCAGTCAATG 0.393000 9 40 2.17888e-05 2.60108e-05 0.006214 1 0 GABRG3 2567 broad.mit.edu 37 15 27573971 27573971 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:27573971G>C ENST00000333743.6 + 5 764 c.510G>C c.(508-510)gaG>gaC p.E170D GABRG3_ENST00000555083.1_Missense_Mutation_p.E170D NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 170 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TCAATGCTGAGTGCCAGCTGC 0.597000 8 30 0 0 0.003080 0 0 IGFBP5 3488 broad.mit.edu 37 2 217543575 217543575 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:217543575G>T ENST00000233813.4 - 2 1314 c.565C>A c.(565-567)Cag>Aag p.Q189K NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 189 Thyroglobulin type-1. negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGATGCACCTGCTCAGACTCC 0.562000 9 17 2.17888e-05 2.60108e-05 0.006214 1 0 MYH4 4622 broad.mit.edu 37 17 10346844 10346844 + Splice_Site SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:10346844C>A ENST00000255381.2 - 40 5778 c.5667_splice c.e40-1 p.E1890_splice CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1890 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GATTGTTCCTCCTGAGAACAG 0.443000 12 43 9.05144e-12 1.34601e-11 0.001855 1 0 ERBB2IP 55914 broad.mit.edu 37 5 65349306 65349306 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:65349306C>G ENST00000284037.5 + 21 2549 c.2160C>G c.(2158-2160)ttC>ttG p.F720L ERBB2IP_ENST00000380939.2_Missense_Mutation_p.F720L|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.F720L|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.F720L|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.F720L|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.F716L|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.F720L|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.F720L|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.F720L NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 720 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AGGAAAAGTTCAAAGCTCATG 0.289000 12 75 0 0 0.001368 0 0 PTPRT 11122 broad.mit.edu 37 20 40877433 40877433 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:40877433C>T ENST00000373198.3 - 15 2498 c.2263G>A c.(2263-2265)Gag>Aag p.E755K PTPRT_ENST00000373201.1_Missense_Mutation_p.E736K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E736K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E755K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E736K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E736K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E736K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 736 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTCTCTGGCTCCACAGTGTTA 0.502000 10 34 0 0 0.006214 0 0 GDF2 2658 broad.mit.edu 37 10 48413613 48413613 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:48413613C>T ENST00000249598.1 - 2 1414 c.1255G>A c.(1255-1257)Gag>Aag p.E419K NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 419 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 CTCATGCCCTCGTAATGGTAC 0.617000 9 12 0 0 0.006214 0 0 XIRP2 129446 broad.mit.edu 37 2 168102400 168102400 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:168102400G>A ENST00000409195.1 + 9 4587 c.4498G>A c.(4498-4500)Gat>Aat p.D1500N XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1500N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1278N NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1325 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCGAACTTTCGATTCTATTAT 0.388000 18 27 0 0 0.006122 0 0 WDR64 128025 broad.mit.edu 37 1 241901781 241901781 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:241901781G>C ENST00000366552.2 + 10 1488 c.1281G>C c.(1279-1281)atG>atC p.M427I WDR64_ENST00000437684.2_Missense_Mutation_p.M427I NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 427 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ATCATGGCATGCTTATTACGG 0.368000 7 22 0 0 0.001984 0 0 CEP135 9662 broad.mit.edu 37 4 56851486 56851486 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:56851486G>T ENST00000257287.4 + 14 1943 c.1819G>T c.(1819-1821)Gag>Tag p.E607* NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 607 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding p.E607Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) ATCAGAATTAGAGAAAACTAT 0.289000 7 63 8.12818e-05 9.34741e-05 0.001984 1 0 TMEM214 54867 broad.mit.edu 37 2 27260556 27260556 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:27260556G>C ENST00000238788.9 + 9 1200 c.1138G>C c.(1138-1140)Gag>Cag p.E380Q TMEM214_ENST00000404032.3_Missense_Mutation_p.E335Q NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 380 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CTGTCCCCCTGAGATGAAGAA 0.557000 19 58 0 0 0.010504 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917105 48917105 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:48917105C>A ENST00000311378.4 + 2 984 c.456C>A c.(454-456)acC>acA p.T152T WFIKKN2_ENST00000426127.1_Silent_p.T59T NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 152 Kazal-like. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) ACGGCCTCACCTACTATAACC 0.592000 24 41 5.35356e-11 7.79315e-11 0.002780 1 0 RHOXF1 158800 broad.mit.edu 37 X 119249424 119249424 + Nonsense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:119249424C>A ENST00000217999.2 - 1 423 c.349G>T c.(349-351)Gag>Tag p.E117* RP4-755D9.1_ENST00000553843.1_RNA NM_139282.1 NP_644811.1 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 117 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 CTTTCCAGCTCCTCCACCTGC 0.617000 50 25 1.46156e-29 2.55958e-29 0.003610 1 0 HECW1 23072 broad.mit.edu 37 7 43484944 43484944 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:43484944G>A ENST00000395891.1 + 11 2778 c.2173G>A c.(2173-2175)Gcc>Acc p.A725T HECW1_ENST00000453890.1_Missense_Mutation_p.A725T NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 725 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CGTGGACAGCGCCAAGATCTC 0.627000 18 92 0 0 0.007413 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045648 26045648 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:26045648A>G ENST00000540144.1 + 1 10 c.10A>G c.(10-12)Acg>Gcg p.T4A NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 4 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 AATGGCTCGTACGAAGCAAAC 0.502000 12 67 0 0 0.001855 0 0 FAN1 22909 broad.mit.edu 37 15 31197997 31197997 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:31197997G>T ENST00000362065.4 + 2 1422 c.1131G>T c.(1129-1131)cgG>cgT p.R377R FAN1_ENST00000565466.1_Silent_p.R377R|FAN1_ENST00000561607.1_Silent_p.R377R|FAN1_ENST00000561594.1_Silent_p.R377R NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 377 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACTACCTTCGGAGTTTCCTTG 0.423000 Direct reversal of damage 24 90 7.92952e-12 1.18428e-11 0.003954 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904123 144904123 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:144904123C>A ENST00000370490.1 + 1 4435 c.180C>A c.(178-180)ccC>ccA p.P60P SLITRK2_ENST00000413937.2_Silent_p.P60P|SLITRK2_ENST00000447897.2_Silent_p.P60P|SLITRK2_ENST00000428560.2_Silent_p.P60P|SLITRK2_ENST00000434188.2_Silent_p.P60P Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 60 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TCCAGCCCCCCCAGTATCGAA 0.433000 24 8 1.10513e-12 1.70974e-12 0.002299 1 0 ZCCHC14 23174 broad.mit.edu 37 16 87525384 87525384 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:87525384C>A ENST00000268616.4 - 1 267 c.50G>T c.(49-51)cGc>cTc p.R17L NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 17 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GAGCTCCTGGCGCAGCACCTG 0.711000 6 25 3.59834e-05 4.22254e-05 0.001168 1 0 KIAA1755 85449 broad.mit.edu 37 20 36874455 36874455 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:36874455G>T ENST00000279024.4 - 2 348 c.77C>A c.(76-78)cCc>cAc p.P26H NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 26 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CAGGACGGTGGGTGCTGTGGC 0.632000 14 27 6.31663e-08 8.28607e-08 0.003163 1 0 SLC22A4 6583 broad.mit.edu 37 5 131630391 131630391 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:131630391A>G ENST00000200652.3 + 1 256 c.82A>G c.(82-84)Agc>Ggc p.S28G P4HA2_ENST00000471826.1_Intron NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 28 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GCTCAGCGCCAGCATCATCCC 0.657000 10 41 0 0 0.000978 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538184 27538184 + RNA SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:27538184A>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CCGTGGTTGGAGACGGTTTAA 0.532000 51 193 0 0 0.003610 0 0 HEG1 57493 broad.mit.edu 37 3 124746163 124746163 + Nonsense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:124746163C>A ENST00000311127.4 - 3 866 c.799G>T c.(799-801)Gag>Tag p.E267* NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 267 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TCTCCCATCTCCAAAGCAGGA 0.552000 13 20 0.000219431 0.000249848 0.002450 1 0 CACNA1I 8911 broad.mit.edu 37 22 39966877 39966877 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr22:39966877G>A ENST00000336649.4 + 1 120 c.120G>A c.(118-120)gaG>gaA p.E40E CACNA1I_ENST00000404898.1_Silent_p.E40E|CACNA1I_ENST00000402142.3_Silent_p.E40E|CACNA1I_ENST00000401624.1_Silent_p.E40E|CACNA1I_ENST00000400164.3_Silent_p.E40E|CACNA1I_ENST00000407673.1_Silent_p.E40E Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 40 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCCTGGAGGAGCCTCTGGATG 0.677000 17 64 0 0 0.004007 0 0 OR2A25 392138 broad.mit.edu 37 7 143771460 143771460 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:143771460C>A ENST00000408898.2 + 1 186 c.148C>A c.(148-150)Ctg>Atg p.L50M NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GCTCATCTCACTGGACTCCAG 0.562000 10 93 4.68919e-08 6.24622e-08 0.008291 1 0 RNF157 114804 broad.mit.edu 37 17 74163145 74163145 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:74163145T>A ENST00000269391.6 - 5 638 c.506A>T c.(505-507)cAg>cTg p.Q169L RNF157_ENST00000319945.6_Missense_Mutation_p.Q169L NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 169 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) GCAGAACTGCTGACACACTCC 0.562000 14 117 0 0 0.002450 0 0 ZNF521 25925 broad.mit.edu 37 18 22806904 22806904 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:22806904G>T ENST00000361524.3 - 4 1126 c.978C>A c.(976-978)taC>taA p.Y326* ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Y326*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Y106* NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 326 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CCATGTGGCTGTACAGTTCCT 0.537000 T PAX5 ALL 11 53 4.68919e-08 6.24622e-08 0.008291 1 0 RUNX1T1 862 broad.mit.edu 37 8 93026891 93026891 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:93026891C>A ENST00000523629.1 - 4 838 c.384G>T c.(382-384)agG>agT p.R128S RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R91S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R91S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R101S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R101S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R91S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R128S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R91S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R139S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 128 TAFH. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TAGTAAGGAACCTTTTCAGCT 0.522000 29 106 7.26314e-15 1.17093e-14 0.007291 1 0 ME3 10873 broad.mit.edu 37 11 86209034 86209034 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:86209034C>T ENST00000543262.1 - 6 1002 c.676G>A c.(676-678)Gtg>Atg p.V226M ME3_ENST00000323418.6_Missense_Mutation_p.V164M|ME3_ENST00000393324.3_Missense_Mutation_p.V226M|ME3_ENST00000359636.2_Missense_Mutation_p.V226M|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000525957.1_5'UTR NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 226 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) TCCAGCAGCACAGGGAGGCAC 0.647000 60 48 0 0 0.003610 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473269 50473269 + RNA SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:50473269C>A ENST00000602139.1 + 0 270 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAACCAGAGTCGAGAGGTGGA 0.592000 12 46 1.15088e-07 1.48709e-07 0.004007 1 0 UBXN7 26043 broad.mit.edu 37 3 196134252 196134252 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:196134252C>T ENST00000296328.4 - 2 160 c.86G>A c.(85-87)aGt>aAt p.S29N UBXN7_ENST00000535858.1_Intron|UBXN7_ENST00000428095.1_Intron NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 29 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TTTTCCTACACTTTCACTTGC 0.378000 9 61 0 0 0.004482 0 0 IWS1 55677 broad.mit.edu 37 2 128262314 128262314 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:128262314C>A ENST00000295321.4 - 3 1424 c.1165G>T c.(1165-1167)Gta>Tta p.V389L AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.V396L NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 389 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CTCTTCGCTACTTTCTCCTCC 0.398000 66 114 3.12118e-38 5.66741e-38 0.003610 1 0 TRIM42 287015 broad.mit.edu 37 3 140401880 140401880 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:140401880C>T ENST00000286349.3 + 2 1109 c.918C>T c.(916-918)aaC>aaT p.N306N NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 306 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCAATGACAACAAATTGCTCT 0.562000 24 42 0 0 0.002299 0 0 CEACAM5 1048 broad.mit.edu 37 19 42219069 42219069 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:42219069C>A ENST00000221992.6 + 3 718 c.604C>A c.(604-606)Cta>Ata p.L202I CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.L202I|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L202I NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 202 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GACCCTCACTCTATTCAATGT 0.522000 89 77 4.78148e-37 8.54721e-37 0.003610 1 0 LAMA1 284217 broad.mit.edu 37 18 6978269 6978269 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:6978269G>C ENST00000389658.3 - 43 6209 c.6116C>G c.(6115-6117)aCa>aGa p.T2039R NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2039 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTGGCAGATGTGTTCAGCAG 0.607000 22 110 0 0 0.001882 0 0 MYH13 8735 broad.mit.edu 37 17 10265755 10265755 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:10265755G>A ENST00000418404.3 - 3 433 c.270C>T c.(268-270)gaC>gaT p.D90D MYH13_ENST00000252172.4_Silent_p.D90D|MYH13_ENST00000570743.1_Silent_p.D90D Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 90 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCATGGCCATGTCCTCGATCT 0.468000 34 104 0 0 0.003271 0 0 OR1N2 138882 broad.mit.edu 37 9 125316283 125316283 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:125316283C>A ENST00000373688.2 + 1 893 c.835C>A c.(835-837)Cct>Act p.P279T NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 GTATTTACTTCCTCCATCAAC 0.463000 18 51 1.78486e-19 3.00379e-19 0.007413 1 0 NTM 50863 broad.mit.edu 37 11 132016251 132016251 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:132016251G>A ENST00000374786.1 + 2 722 c.243G>A c.(241-243)aaG>aaA p.K81K NTM_ENST00000427481.2_Silent_p.K72K|NTM_ENST00000374784.1_Silent_p.K81K|NTM_ENST00000539799.1_Silent_p.K81K|NTM_ENST00000374791.3_Silent_p.K81K|NTM_ENST00000425719.2_Silent_p.K81K NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 81 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 GGAATGACAAGTGGTGCCTGG 0.567000 42 39 0 0 0.008740 0 0 USH2A 7399 broad.mit.edu 37 1 215813954 215813954 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:215813954G>T ENST00000366943.2 - 68 15300 c.14914C>A c.(14914-14916)Cgc>Agc p.R4972S USH2A_ENST00000307340.3_Missense_Mutation_p.R4972S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4972 Fibronectin type-III 35. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTACACGCGTCGCCCTCCG 0.542000 HNSCC(13;0.011) 13 38 7.03913e-09 9.6369e-09 0.001368 1 0 CTNNA2 1496 broad.mit.edu 37 2 80773180 80773180 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:80773180C>G ENST00000466387.1 + 15 2256 c.1532C>G c.(1531-1533)tCt>tGt p.S511C CTNNA2_ENST00000402739.4_Missense_Mutation_p.S511C|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S190C|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S511C|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S511C|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S511C|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S545C P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 511 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GACTTCCTCTCTGTCTCAGGT 0.498000 5 12 0 0 0.000602 0 0 AGA 175 broad.mit.edu 37 4 178355600 178355600 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:178355600C>A ENST00000264595.2 - 7 869 c.742G>T c.(742-744)Gac>Tac p.D248Y AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 248 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) GCAGTATCGTCAGCATAGGCT 0.463000 9 77 7.48243e-07 9.5256e-07 0.006214 1 0 CRB2 286204 broad.mit.edu 37 9 126125320 126125320 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:126125320G>A ENST00000373631.3 + 2 272 c.271G>A c.(271-273)Ggc>Agc p.G91S CRB2_ENST00000359999.3_Missense_Mutation_p.G91S NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 91 EGF-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 AGATCCCACCGGCTTCCGCTG 0.692000 8 40 0 0 0.004482 0 0 LRRC42 115353 broad.mit.edu 37 1 54427706 54427706 + Splice_Site SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:54427706G>T ENST00000371370.3 + 6 1245 c.e6-1 LRRC42_ENST00000319223.4_Splice_Site|LRRC42_ENST00000477905.1_3'UTR NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 TTGACATCTAGGTAACCCTGA 0.378000 9 24 2.17888e-05 2.60108e-05 0.006214 1 0 PTCHD3 374308 broad.mit.edu 37 10 27702213 27702213 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:27702213G>T ENST00000438700.3 - 1 1084 c.967C>A c.(967-969)Cgg>Agg p.R323R NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 323 spermatid development integral to membrane hedgehog receptor activity p.R323W(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TACAGCAGCCGCATGGCTTTG 0.562000 59 116 1.93748e-29 3.37591e-29 0.003610 1 0 MT1B 4490 broad.mit.edu 37 16 56685816 56685816 + Translation_Start_Site SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:56685816C>A ENST00000334346.2 + 0 6 RP11-249C24.11_ENST00000568608.1_RNA NM_005947.2 NP_005938.1 P07438 MT1B_HUMAN metallothionein 1B cytoplasm cadmium ion binding|copper ion binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 TTCCTCCTGCCCTGACTTCTC 0.617000 21 53 1.96292e-10 2.8217e-10 0.010504 1 0 SLC39A12 221074 broad.mit.edu 37 10 18250582 18250582 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:18250582C>G ENST00000377369.2 + 3 607 c.334C>G c.(334-336)Cag>Gag p.Q112E SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Q112E|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Q112E NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 112 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AGAAGTGGTCCAGAGAGTTTC 0.348000 25 51 0 0 0.003954 0 0 NEUROG3 50674 broad.mit.edu 37 10 71332668 71332668 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:71332668C>T ENST00000242462.4 - 2 161 c.132G>A c.(130-132)ggG>ggA p.G44G NM_020999.3 NP_066279.2 Q9Y4Z2 NGN3_HUMAN neurogenin 3 44 central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 CTGCGCAGTTCCCCCGTGTGC 0.711000 14 22 0 0 0.002450 0 0 AK5 26289 broad.mit.edu 37 1 77806129 77806129 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:77806129A>G ENST00000344720.5 + 6 1715 c.689A>G c.(688-690)aAg>aGg p.K230R AK5_ENST00000354567.2_Missense_Mutation_p.K256R NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 256 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 AGATTACTGAAGCGTGCAGAA 0.453000 17 60 0 0 0.007413 0 0 ROBO1 6091 broad.mit.edu 37 3 78666888 78666888 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:78666888C>T ENST00000436010.2 - 25 5059 c.4062G>A c.(4060-4062)tcG>tcA p.S1354S ROBO1_ENST00000464233.1_Silent_p.S1393S|ROBO1_ENST00000495273.1_Silent_p.S1348S|ROBO1_ENST00000467549.1_Silent_p.S1293S Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1393 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AGGAGCCGTCCGAAGAACTAA 0.577000 4 42 0 0 0.000602 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543054 133543054 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:133543054T>C ENST00000409261.1 - 14 1703 c.1330A>G c.(1330-1332)Agc>Ggc p.S444G NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S444G|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 444 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTGAGGCTGCTACTTTTAATT 0.448000 8 38 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179604234 179604234 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:179604234T>C ENST00000589042.1 - 48 13950 c.13726A>G c.(13726-13728)Aaa>Gaa p.K4576E TTN_ENST00000342175.6_Missense_Mutation_p.K4405E|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.K4338E|TTN_ENST00000460472.2_Missense_Mutation_p.K4213E|TTN_ENST00000591111.1_Missense_Mutation_p.K4259E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4259 Ig-like 26. 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) GACTCCTCTTTTTCCTCTGAT 0.448000 15 68 0 0 0.004990 0 0 CRB1 23418 broad.mit.edu 37 1 197396748 197396748 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:197396748G>T ENST00000367397.1 + 3 1294 c.436G>T c.(436-438)Gtc>Ttc p.V146F CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.V246F|CRB1_ENST00000367399.2_Missense_Mutation_p.V653F|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.V696F|CRB1_ENST00000367400.3_Missense_Mutation_p.V765F P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 765 EGF-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATATATCCGTGTCTGGCTAGA 0.428000 10 25 9.70103e-10 1.37166e-09 0.008291 1 0 ITGA9 3680 broad.mit.edu 37 3 37512507 37512507 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:37512507G>T ENST00000264741.5 + 2 451 c.195G>T c.(193-195)gtG>gtT p.V65V ITGA9_ENST00000422441.1_Silent_p.V65V NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 65 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) GGGTCCTTGTGGGCGCACCAA 0.527000 6 50 0.000157383 0.000179792 0.003080 1 0 COL12A1 1303 broad.mit.edu 37 6 75848603 75848603 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:75848603C>T ENST00000322507.8 - 28 5341 c.5032G>A c.(5032-5034)Gga>Aga p.G1678R COL12A1_ENST00000416123.2_Missense_Mutation_p.G1678R|COL12A1_ENST00000483888.2_Missense_Mutation_p.G1678R|COL12A1_ENST00000345356.6_Missense_Mutation_p.G514R NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1678 Fibronectin type-III 12. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TCTGAAGCTCCATGATCCCAA 0.438000 10 20 0 0 0.006214 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 52 0 0 0.004672 0 0 DST 667 broad.mit.edu 37 6 56457018 56457018 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:56457018C>T ENST00000370754.5 - 49 12771 c.12772G>A c.(12772-12774)Gac>Aac p.D4258N DST_ENST00000370788.2_Missense_Mutation_p.D1992N|DST_ENST00000421834.2_Missense_Mutation_p.D1992N|DST_ENST00000244364.6_Missense_Mutation_p.D1666N|DST_ENST00000370769.4_Missense_Mutation_p.D4080N|DST_ENST00000361203.3_Missense_Mutation_p.D4078N|DST_ENST00000312431.6_Missense_Mutation_p.D4078N|DST_ENST00000446842.2_Missense_Mutation_p.D3754N Q03001 DYST_HUMAN dystonin 4078 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTTTGGGGTCCACCGCAATA 0.433000 11 10 0 0 0.001855 0 0 IPO8 10526 broad.mit.edu 37 12 30792602 30792602 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:30792602C>A ENST00000256079.4 - 21 2674 c.2336G>T c.(2335-2337)cGt>cTt p.R779L IPO8_ENST00000544829.1_Missense_Mutation_p.R574L NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 779 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ACACATAGTACGAAGCTCACT 0.433000 7 54 5.18039e-06 6.40586e-06 0.003080 1 0 HIST1H1T 3010 broad.mit.edu 37 6 26107828 26107828 + Missense_Mutation SNP C C T rs143795730 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:26107828C>T ENST00000338379.4 - 1 536 c.494G>A c.(493-495)aGg>aAg p.R165K NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 165 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 TCTCCCGCTCCTAACAGTTTT 0.478000 16 146 0 0 0.004990 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021441 46021441 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:46021441G>T ENST00000380102.2 + 1 945 c.920G>T c.(919-921)tGc>tTc p.C307F TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 307 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 ACCACCTCCTGCTGCAGACCC 0.672000 27 100 7.38237e-10 1.04811e-09 0.006320 1 0 CNTNAP3B 728577 broad.mit.edu 37 9 43709674 43709674 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:43709674C>A ENST00000377564.3 + 2 503 c.110C>A c.(109-111)tCt>tAt p.S37Y CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S37Y NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 37 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CCACTGGCCTCTGCCTTGCCT 0.488000 7 19 1.06961e-07 1.39252e-07 0.003080 1 0 GLIPR1L1 256710 broad.mit.edu 37 12 75763886 75763886 + Missense_Mutation SNP C C T rs144682920 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:75763886C>T ENST00000312442.2 + 5 678 c.632C>T c.(631-633)aCg>aTg p.T211M CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000548623.1_3'UTR|GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.T220M NM_152779.2 NP_689992.1 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 220 extracellular region endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 CTGAAGCCAACGGGGAGAGCA 0.323000 4 33 0 0 0.000602 0 0 KCNK2 3776 broad.mit.edu 37 1 215342574 215342574 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:215342574G>A ENST00000444842.2 + 4 658 c.508G>A c.(508-510)Ggc>Agc p.G170S KCNK2_ENST00000391894.2_Missense_Mutation_p.G155S|KCNK2_ENST00000391895.2_Missense_Mutation_p.G166S NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 170 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CACAGAAGGCGGCAAAATATT 0.363000 6 44 0 0 0.001168 0 0 TIFAB 497189 broad.mit.edu 37 5 134785609 134785609 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:134785609G>T ENST00000537858.1 - 2 221 c.21C>A c.(19-21)gtC>gtA p.V7V NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 7 breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCACTCGCAGGACGGTGAGGG 0.602000 16 58 5.3912e-06 6.64273e-06 0.006122 1 0 POU4F2 5458 broad.mit.edu 37 4 147561134 147561134 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:147561134C>T ENST00000281321.3 + 2 652 c.404C>T c.(403-405)cCc>cTc p.P135L NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 135 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CACCACAGCCCCTTCAAACCG 0.647000 7 26 0 0 0.003080 0 0 ASB2 51676 broad.mit.edu 37 14 94413696 94413696 + Splice_Site SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:94413696T>C ENST00000555019.1 - 7 1481 c.1052_splice c.e7+1 p.R351_splice ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Splice_Site_p.R303_splice NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 303 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) TGGGCTGACCTGTAGTTGCCC 0.642000 20 51 0 0 0.002299 0 0 SLITRK5 26050 broad.mit.edu 37 13 88327901 88327901 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr13:88327901C>T ENST00000325089.6 + 2 477 c.258C>T c.(256-258)ctC>ctT p.L86L SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 86 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TCTACCACCTCTTGTTGTCCG 0.458000 32 79 0 0 0.009535 0 0 PTPN5 84867 broad.mit.edu 37 11 18764013 18764013 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:18764013G>T ENST00000396170.1 - 7 1689 c.425C>A c.(424-426)aCc>aAc p.T142N PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.T174N|PTPN5_ENST00000396171.4_Missense_Mutation_p.T174N|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000396167.2_Missense_Mutation_p.T142N|PTPN5_ENST00000396168.1_Missense_Mutation_p.T150N NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 174 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 GGGCAGTGGGGTGGGTGGCTC 0.632000 19 52 1.10923e-09 1.56198e-09 0.002780 1 0 NBAS 51594 broad.mit.edu 37 2 15651350 15651350 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:15651350C>A ENST00000281513.5 - 10 896 c.871G>T c.(871-873)Gac>Tac p.D291Y NBAS_ENST00000441750.1_Missense_Mutation_p.D291Y NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 291 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GTAACCCCGTCTCCACCATTA 0.413000 32 137 1.62565e-12 2.49266e-12 0.002445 1 0 LIPI 149998 broad.mit.edu 37 21 15538703 15538703 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:15538703C>G ENST00000344577.2 - 5 801 c.776G>C c.(775-777)tGt>tCt p.C259S LIPI_ENST00000536861.1_Missense_Mutation_p.C238S NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 238 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGATTTAGGACAGCCAGGTTG 0.348000 9 61 0 0 0.006214 0 0 ZNF598 90850 broad.mit.edu 37 16 2050050 2050050 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:2050050G>A ENST00000563630.1 - 9 1577 c.1335C>T c.(1333-1335)ccC>ccT p.P445P ZNF598_ENST00000562103.1_Silent_p.P445P|ZNF598_ENST00000431526.1_Silent_p.P500P Q86UK7 ZN598_HUMAN zinc finger protein 598 500 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CAAGGCTGGTGGGGGCGGTGC 0.682000 5 16 0 0 0.001168 0 0 TMEM98 26022 broad.mit.edu 37 17 31258565 31258565 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:31258565G>T ENST00000579849.1 + 3 450 c.19G>T c.(19-21)Gtt>Ttt p.V7F TMEM98_ENST00000394642.3_Missense_Mutation_p.V7F|TMEM98_ENST00000578289.1_Missense_Mutation_p.V7F NM_015544.2 NP_056359.2 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 7 endoplasmic reticulum|integral to membrane kidney(2)|large_intestine(1) 3 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) TGTGGTGATTGTTGCCATAGG 0.572000 9 5 1.58986e-06 1.99456e-06 0.008291 1 0 DST 667 broad.mit.edu 37 6 56482783 56482783 + Splice_Site SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:56482783C>A ENST00000370765.6 - 23 6156 c.e23+1 DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACAGAGTATACCTCTAAGGGT 0.378000 16 78 6.31663e-08 8.28607e-08 0.003163 1 0 TAS1R2 80834 broad.mit.edu 37 1 19186125 19186125 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:19186125G>A ENST00000375371.3 - 1 51 c.30C>T c.(28-30)tcC>tcT p.S10S RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 10 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGAAGAACAGGGAGGAGATGG 0.587000 6 48 0 0 0.001984 0 0 NUDT8 254552 broad.mit.edu 37 11 67396390 67396390 + Splice_Site SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:67396390C>T ENST00000301490.4 - 2 345 c.327_splice c.e2+1 p.P109_splice NUDT8_ENST00000376693.2_Splice_Site_p.P109_splice NM_181843.2 NP_862826.1 Q8WV74 NUDT8_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 8 109 Nudix hydrolase. mitochondrion hydrolase activity|metal ion binding endometrium(1)|lung(1)|prostate(1)|skin(1) 4 AGTGGCTTACCGGATCATACA 0.662000 18 54 0 0 0.007413 0 0 WSCD2 9671 broad.mit.edu 37 12 108604067 108604067 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:108604067G>T ENST00000332082.4 + 5 1485 c.667G>T c.(667-669)Gag>Tag p.E223* WSCD2_ENST00000547525.1_Nonsense_Mutation_p.E223*|WSCD2_ENST00000261400.3_Nonsense_Mutation_p.E223*|WSCD2_ENST00000549903.1_Nonsense_Mutation_p.E223* Q2TBF2 WSCD2_HUMAN WSC domain containing 2 223 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GCTGGCCCAGGAGTCGGCCCG 0.677000 4 6 0.00024832 0.000281811 0.009096 1 0 TBX18 9096 broad.mit.edu 37 6 85453977 85453977 + Splice_Site SNP A A C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:85453977A>C ENST00000369663.5 - 6 1342 c.e6+1 TBX18_ENST00000606784.1_Splice_Site|TBX18_ENST00000606521.1_Splice_Site NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) ACTAAGGCCCACCTGTTGCGC 0.338000 13 4 0 0 0.002450 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260330 30260330 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:30260330G>T ENST00000378982.2 + 1 274 c.78G>T c.(76-78)aaG>aaT p.K26N NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 26 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 AGGATCTCAAGGTTGGTCAGC 0.562000 16 4 6.31663e-08 8.28607e-08 0.003163 1 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629050 1629050 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:1629050C>A ENST00000399685.1 - 1 643 c.566G>T c.(565-567)tGc>tTc p.C189F NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 189 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) gggtttgcagcagctggactg 0.627000 110 226 7.81258e-50 1.42611e-49 0.003610 1 0 WDR16 146845 broad.mit.edu 37 17 9489143 9489143 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:9489143C>T ENST00000352665.5 + 2 193 c.124C>T c.(124-126)Cct>Tct p.P42S WDR16_ENST00000299764.5_Missense_Mutation_p.P52S|WDR16_ENST00000396219.3_Intron NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 42 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 TATGATTTATCCTCTTGGTTG 0.463000 21 82 0 0 0.010504 0 0 ITGB1 3688 broad.mit.edu 37 10 33217116 33217116 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:33217116C>A ENST00000396033.2 - 5 588 c.453G>T c.(451-453)ctG>ctT p.L151L ITGB1_ENST00000423113.1_Silent_p.L151L|ITGB1_ENST00000374956.4_Silent_p.L151L|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000302278.3_Silent_p.L151L NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 151 VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) TTGAGTAAGACAGGTCCATAA 0.378000 15 102 0.000308642 0.00034912 0.003163 1 0 OR51A4 401666 broad.mit.edu 37 11 4967817 4967817 + Nonsense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:4967817T>A ENST00000380373.2 - 1 539 c.514A>T c.(514-516)Aag>Tag p.K172* MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTTTTTCTTGCAATATCTC 0.413000 24 223 0 0 0.002780 0 0 IGHV1-58 28464 broad.mit.edu 37 14 107078617 107078617 + RNA SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:107078617G>T ENST00000390628.2 - 0 167 GACCTTCACTGAGGTCCCAGG 0.562000 31 63 1.39806e-14 2.22272e-14 0.008361 1 0 STK11 6794 broad.mit.edu 37 19 1220486 1220486 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:1220486C>A ENST00000326873.7 + 4 1752 c.579C>A c.(577-579)tcC>tcA p.S193S NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 193 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.Y156fs*87(4)|p.?(3)|p.D194fs*93(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TCAAAATCTCCGACCTGGGCG 0.677000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 7 6 6.5536e-12 9.87333e-12 0.003080 1 0 IQSEC3 440073 broad.mit.edu 37 12 283807 283807 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:283807G>T ENST00000538872.1 + 14 3275 c.3157G>T c.(3157-3159)Ggg>Tgg p.G1053W IQSEC3_ENST00000326261.4_Missense_Mutation_p.G1053W|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000537151.1_3'UTR Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1053 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCACAACTCCGGGCTGGGGGC 0.617000 14 12 4.14922e-12 6.30608e-12 0.004007 1 0 SLC4A1 6521 broad.mit.edu 37 17 42336641 42336641 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:42336641C>A ENST00000262418.6 - 9 921 c.766G>T c.(766-768)Gtg>Ttg p.V256L AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 256 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GGCAGCTCCACCGCCTCCAGC 0.652000 16 29 0.000422831 0.000476722 0.004007 1 0 LRP1B 53353 broad.mit.edu 37 2 141457912 141457912 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:141457912T>C ENST00000389484.3 - 41 7677 c.6706A>G c.(6706-6708)Aaa>Gaa p.K2236E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2236 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGGTACCTTTTCTTCTTTGA 0.343000 TSP Lung(27;0.18) 14 72 0 0 0.001855 0 0 CDC25C 995 broad.mit.edu 37 5 137627777 137627777 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:137627777G>T ENST00000323760.6 - 8 922 c.644C>A c.(643-645)cCg>cAg p.P215Q CDC25C_ENST00000357274.3_Missense_Mutation_p.P172Q|CDC25C_ENST00000514555.1_Missense_Mutation_p.P185Q|CDC25C_ENST00000513970.1_Missense_Mutation_p.P215Q|CDC25C_ENST00000356505.3_Missense_Mutation_p.P185Q|CDC25C_ENST00000415130.2_Missense_Mutation_p.P142Q|CDC25C_ENST00000348983.3_Missense_Mutation_p.P142Q NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 215 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TGGCATCGACGGGGAGCGATA 0.443000 22 87 2.70639e-06 3.38299e-06 0.002299 1 0 GALNT3 2591 broad.mit.edu 37 2 166626801 166626801 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:166626801T>A ENST00000392701.3 - 2 1185 c.410A>T c.(409-411)gAg>gTg p.E137V NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 137 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 TTCCTTTTGCTCTTCAACACT 0.463000 14 66 0 0 0.001855 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227348297 227348297 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:227348297G>C ENST00000366769.3 - 6 1931 c.640C>G c.(640-642)Cat>Gat p.H214D CDC42BPA_ENST00000366767.3_Missense_Mutation_p.H214D|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.H214D|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.H214D|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.H214D|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.H214D|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.H214D NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 214 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.H214Y(3) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AACCGAATATGTCCATTCATA 0.299000 71 56 0 0 0.003610 0 0 CDH2 1000 broad.mit.edu 37 18 25616436 25616436 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:25616436G>T ENST00000399380.3 - 1 113 c.77C>A c.(76-78)tCa>tAa p.S26* CDH2_ENST00000269141.3_Intron P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 57 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTTGTTACCTGAAAGGAAAAC 0.308000 27 102 7.41945e-09 1.01174e-08 0.005443 1 0 FLT1 2321 broad.mit.edu 37 13 29008234 29008234 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr13:29008234C>A ENST00000282397.4 - 5 888 c.637G>T c.(637-639)Ggg>Tgg p.G213W FLT1_ENST00000541932.1_Missense_Mutation_p.G213W|FLT1_ENST00000539099.1_Missense_Mutation_p.G213W NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 213 Ig-like C2-type 2. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TACAAATGCCCATTGACTGTT 0.393000 16 20 4.7546e-09 6.53521e-09 0.004007 1 0 OR52N4 390072 broad.mit.edu 37 11 5776344 5776344 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:5776344A>G ENST00000317254.3 + 1 422 c.374A>G c.(373-375)tAt>tGt p.Y125C TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CTGGATCGCTATGTGGCCATC 0.488000 43 84 0 0 0.002522 0 0 RYR3 6263 broad.mit.edu 37 15 34016317 34016317 + Silent SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:34016317A>T ENST00000389232.4 + 45 6922 c.6852A>T c.(6850-6852)gcA>gcT p.A2284A RYR3_ENST00000415757.3_Silent_p.A2284A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2284 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGGGCAATGCAATTATGTCAT 0.498000 10 11 0 0 0.008291 0 0 NYAP1 222950 broad.mit.edu 37 7 100084640 100084640 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:100084640G>A ENST00000423930.1 + 3 424 c.265G>A c.(265-267)Ggc>Agc p.G89S NYAP1_ENST00000300179.2_Missense_Mutation_p.G89S|NYAP1_ENST00000454988.1_Missense_Mutation_p.G32S Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 89 CCACTCGGTGGGCAGCATGGA 0.711000 8 18 0 0 0.006214 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156941609 156941609 + Splice_Site SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:156941609C>T ENST00000368194.3 - 8 1622 c.e8-1 ARHGEF11_ENST00000361409.2_Intron NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.?(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CACAGATACGCTAGGGATGGG 0.562000 13 27 0 0 0.003163 0 0 TBX15 6913 broad.mit.edu 37 1 119427921 119427921 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:119427921C>A ENST00000369429.3 - 8 1252 c.1243G>T c.(1243-1245)Ggg>Tgg p.G415W TBX15_ENST00000207157.3_Missense_Mutation_p.G309W Q96SF7 TBX15_HUMAN T-box 15 415 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TCACTCAGCCCTGGGTAGCTC 0.537000 19 32 1.56452e-12 2.40965e-12 0.007413 1 0 TBC1D2 55357 broad.mit.edu 37 9 100971119 100971119 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:100971119C>T ENST00000375066.5 - 9 2072 c.1981G>A c.(1981-1983)Gcc>Acc p.A661T TBC1D2_ENST00000375064.1_Missense_Mutation_p.A661T|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.A443T|TBC1D2_ENST00000375063.1_Missense_Mutation_p.A201T NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 661 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) TGCTCGCGGGCCTGGCCCCGG 0.652000 9 37 0 0 0.006214 0 0 CCDC155 147872 broad.mit.edu 37 19 49920437 49920437 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:49920437G>C ENST00000447857.3 + 19 1666 c.1461G>C c.(1459-1461)caG>caC p.Q487H NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 487 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GGGAACTCCAGCAAGCCCTGG 0.647000 14 8 0 0 0.002450 0 0 NOVA1 4857 broad.mit.edu 37 14 26917570 26917570 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:26917570G>A ENST00000539517.2 - 5 1436 c.1119C>T c.(1117-1119)ggC>ggT p.G373G NOVA1_ENST00000267422.7_Silent_p.G251G|NOVA1_ENST00000465357.2_Silent_p.G349G NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 376 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CAGCTGTGCTGCCACTGGCTG 0.577000 7 27 0 0 0.003080 0 0 USP36 57602 broad.mit.edu 37 17 76831489 76831489 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:76831489C>A ENST00000312010.6 - 4 672 c.348G>T c.(346-348)cgG>cgT p.R116R USP36_ENST00000542802.2_Silent_p.R116R|USP36_ENST00000589424.1_Silent_p.R116R|USP36_ENST00000590546.2_Silent_p.R116R NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 116 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) CGCGGAAGACCCGCTCCCACC 0.597000 11 34 3.86212e-05 4.47125e-05 0.008291 1 0 OR8K1 390157 broad.mit.edu 37 11 56113889 56113889 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:56113889C>A ENST00000279783.2 + 1 469 c.375C>A c.(373-375)gcC>gcA p.A125A NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) CAGCAATGGCCTATGATCGCT 0.403000 HNSCC(65;0.19) 46 116 5.2432e-18 8.69666e-18 0.003610 1 0 RYR2 6262 broad.mit.edu 37 1 237995907 237995907 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:237995907G>T ENST00000366574.2 + 105 15181 c.14864G>T c.(14863-14865)gGg>gTg p.G4955V RYR2_ENST00000360064.6_Missense_Mutation_p.G4961V|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.G4939V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4955 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCCCAGCAGGGGATTGCTTC 0.413000 6 16 0.00116845 0.00129203 0.001168 1 0 KCNH1 3756 broad.mit.edu 37 1 210857201 210857201 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:210857201C>T ENST00000367007.4 - 11 2480 c.2311G>A c.(2311-2313)Gta>Ata p.V771I KCNH1_ENST00000271751.4_Missense_Mutation_p.V798I NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 798 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGGAAGGATACGGGCGTGGCA 0.662000 12 123 0 0 0.001368 0 0 OBSCN 84033 broad.mit.edu 37 1 228487741 228487741 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:228487741G>T ENST00000570156.2 + 51 13707 c.13633G>T c.(13633-13635)Ggg>Tgg p.G4545W OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000602685.1_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1235W NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3588 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GAAGCAGGATGGGACCAGTTG 0.562000 11 93 0.000978159 0.00109212 0.000978 1 0 ZSWIM1 90204 broad.mit.edu 37 20 44511423 44511423 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:44511423G>T ENST00000372523.1 + 2 287 c.192G>T c.(190-192)caG>caT p.Q64H ZSWIM1_ENST00000372520.1_Missense_Mutation_p.Q64H NM_080603.4 NP_542170.3 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 64 zinc ion binding breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 Myeloproliferative disorder(115;0.028) TCAACTACCAGAGCTGCTTTA 0.473000 16 26 3.52763e-06 4.37782e-06 0.004990 1 0 VAMP7 6845 broad.mit.edu 37 X 155171642 155171642 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:155171642G>C ENST00000262640.6 + 7 705 c.622G>C c.(622-624)Gat>Cat p.D208H VAMP7_ENST00000460621.1_3'UTR|VAMP7_ENST00000286448.6_3'UTR NM_001185183.1 NP_001172112.1 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 0 calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATTAACCAAGGATATGAGAGA 0.408000 5 28 0 0 0.000602 0 0 COL6A6 131873 broad.mit.edu 37 3 130289965 130289965 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:130289965C>A ENST00000358511.6 + 6 2736 c.2705C>A c.(2704-2706)gCc>gAc p.A902D COL6A6_ENST00000453409.2_Missense_Mutation_p.A902D NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 902 Nonhelical region.|VWFA 5. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TTCACTGAAGCCCGGGGCAGC 0.542000 5 23 1.23904e-05 1.49465e-05 0.000602 1 0 KIAA1024 23251 broad.mit.edu 37 15 79760677 79760677 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:79760677G>T ENST00000305428.3 + 4 2777 c.2702G>T c.(2701-2703)tGc>tTc p.C901F NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 901 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GCTGCGGCATGCACCGTCATC 0.458000 4 19 0.00909568 0.00968521 0.009096 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33549399 33549399 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:33549399G>T ENST00000504830.1 - 21 4550 c.4215C>A c.(4213-4215)tgC>tgA p.C1405* ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.C1320* NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1405 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CCAGGAACTGGCAGTGAAATG 0.612000 HNSCC(64;0.19) 69 96 1.55545e-33 2.75194e-33 0.003610 1 0 TNFAIP2 7127 broad.mit.edu 37 14 103601623 103601623 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:103601623C>T ENST00000560869.1 + 12 2530 c.1891C>T c.(1891-1893)Cgg>Tgg p.R631W TNFAIP2_ENST00000333007.1_Missense_Mutation_p.R631W|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.R114W|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.R300W Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 631 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) CAAGCGCATCCGGAGCATCTT 0.582000 19 287 0 0 0.007413 0 0 MAP4K1 11184 broad.mit.edu 37 19 39104688 39104688 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:39104688C>T ENST00000591517.1 - 7 483 c.455G>A c.(454-456)aGa>aAa p.R152K MAP4K1_ENST00000586296.1_Missense_Mutation_p.R152K|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R152K|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R148K NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 152 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTCACCCAATCTGACCTCCCC 0.607000 5 101 0 0 0.000602 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846204 47846204 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:47846204C>A ENST00000339488.4 - 3 2409 c.2376G>T c.(2374-2376)ggG>ggT p.G792G NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 792 integral to membrane hedgehog receptor activity GTGTGCAACCCCCAGTGAGCA 0.428000 5 61 1.23904e-05 1.49465e-05 0.000602 1 0 COPB2 9276 broad.mit.edu 37 3 139093397 139093397 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:139093397C>T ENST00000333188.5 - 7 866 c.685G>A c.(685-687)Gcc>Acc p.A229T COPB2_ENST00000507777.1_Missense_Mutation_p.A200T NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 229 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 ACATTTTGGGCATGTCCTTCC 0.378000 7 57 0 0 0.001984 0 0 LCE1B 353132 broad.mit.edu 37 1 152785055 152785055 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:152785055A>G ENST00000360090.3 + 1 609 c.133A>G c.(133-135)Agt>Ggt p.S45G NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 45 keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTCCTGCTGCAGTGTCAGCTC 0.647000 29 198 0 0 0.008361 0 0 SERINC2 347735 broad.mit.edu 37 1 31898638 31898638 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:31898638G>C ENST00000373710.1 + 6 788 c.515G>C c.(514-516)gGc>gCc p.G172A SERINC2_ENST00000373709.3_Missense_Mutation_p.G163A|SERINC2_ENST00000536859.1_Missense_Mutation_p.G167A|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.G167A NM_001199038.1 NP_001185967.1 Q96SA4 SERC2_HUMAN serine incorporator 2 163 integral to membrane cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 12 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) TTCTACTTCGGCGTCGTGGGC 0.602000 35 114 0 0 0.003755 0 0 OR1K1 392392 broad.mit.edu 37 9 125562914 125562914 + Silent SNP T T G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:125562914T>G ENST00000277309.2 + 1 545 c.513T>G c.(511-513)gcT>gcG p.A171A NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 CCTTCTGTGCTTCCCACCAAG 0.607000 28 63 0 0 0.008361 0 0 ZNF133 7692 broad.mit.edu 37 20 18296354 18296354 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:18296354A>G ENST00000377671.3 + 7 1415 c.856A>G c.(856-858)Ata>Gta p.I286V ZNF133_ENST00000535822.1_Missense_Mutation_p.I192V|ZNF133_ENST00000402618.2_Missense_Mutation_p.I224V|ZNF133_ENST00000538547.1_Missense_Mutation_p.I192V|ZNF133_ENST00000316358.4_Missense_Mutation_p.I287V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.I287V|ZNF133_ENST00000396026.3_Missense_Mutation_p.I290V NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 287 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 AACGCTAATCATACACGAACG 0.532000 10 55 0 0 0.006214 0 0 HSPA13 6782 broad.mit.edu 37 21 15753847 15753847 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:15753847G>A ENST00000285667.3 - 2 110 c.43C>T c.(43-45)Ctc>Ttc p.L15F HSPA13_ENST00000544452.1_5'UTR|HSPA13_ENST00000478035.1_5'UTR NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 15 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GCCAACAGGAGAGTCAAAACA 0.373000 8 18 0 0 0.006214 0 0 CHPF 79586 broad.mit.edu 37 2 220408109 220408109 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:220408109G>A ENST00000243776.6 - 1 400 c.152C>T c.(151-153)cCg>cTg p.P51L CHPF_ENST00000373891.2_Missense_Mutation_p.P51L NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 51 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GCCGCGCGGCGGCAGCTCAGA 0.741000 3 13 0 0 0.009096 0 0 MCAM 4162 broad.mit.edu 37 11 119181596 119181596 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:119181596G>A ENST00000264036.4 - 14 1677 c.1663C>T c.(1663-1665)Ccg>Tcg p.P555S MCAM_ENST00000392814.1_3'UTR NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule 555 anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CGGCTCTCCGGCTCCGGCAGC 0.622000 14 112 0 0 0.004007 0 0 DNAJC25 548645 broad.mit.edu 37 9 114411817 114411817 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:114411817G>A ENST00000313525.3 + 3 630 c.574G>A c.(574-576)Gcc>Acc p.A192T DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron NM_001015882.2 NP_001015882.2 Q9H1X3 DJC25_HUMAN DnaJ (Hsp40) homolog, subfamily C , member 25 192 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 TACAGAGATTGCCAAGCAGCA 0.413000 5 12 0 0 0.000602 0 0 MED13L 23389 broad.mit.edu 37 12 116452947 116452947 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:116452947C>G ENST00000281928.3 - 8 1348 c.1142G>C c.(1141-1143)tGg>tCg p.W381S NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 381 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GCATTCCTTCCAGACTCGATG 0.438000 8 61 0 0 0.003080 0 0 LOC100287934 100287934 broad.mit.edu 37 1 745371 745371 + RNA DEL A A - rs146246821 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:745371delA ENST00000447500.1 - 0 95 TTTATTTCATAAGATAGCATT 0.299 3 6 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17721696 17721696 + RNA DEL T T - rs35197313 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:17721696delT ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CTTTTTCttgttttttttttt 0.483 6 11 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168106663 168106664 + Frame_Shift_Del DEL AC AC - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:168106663_168106664delAC ENST00000409195.1 + 9 8850_8851 c.8761_8762delAC c.(8761-8763)afs p.T2921fs XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.T2921fs|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.T2699fs|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2746 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCAAGAGATTACACAGAACAAA 0.381 9 53 --- --- --- --- ZSWIM2 151112 broad.mit.edu 37 2 187692746 187692746 + Frame_Shift_Del DEL C C - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:187692746delC ENST00000295131.2 - 9 1906 c.1867delG c.(1867-1869)agfs p.E623fs NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 623 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AAAGATAGCTCAGTACTTTTT 0.279 8 24 --- --- --- --- FER1L6 654463 broad.mit.edu 37 8 124975538 124975538 + Frame_Shift_Del DEL G G - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:124975538delG ENST00000522917.1 + 3 303 c.97delG c.(97-99)cafs p.A33fs FER1L6_ENST00000399018.1_Frame_Shift_Del_p.A33fs NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 33 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGACACTGAAGCACTGCAGGA 0.493 17 110 --- --- --- --- SEC24C 9632 broad.mit.edu 37 10 75506613 75506614 + Frame_Shift_Ins INS - - A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:75506613_75506614insA ENST00000339365.2 + 3 185_186 c.23_24insA c.(22-24)cccfs p.P8fs SEC24C_ENST00000411652.2_5'UTR|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Frame_Shift_Ins_p.P8fs NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 8 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) CAGTCAGTTCCACCTGTGCCAC 0.495 18 72 --- --- --- --- ZNF511 118472 broad.mit.edu 37 10 135125341 135125342 + Frame_Shift_Ins INS - - AT TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:135125341_135125342insAT ENST00000359035.3 + 5 679_680 c.676_677insAT c.(676-678)tagfs p.*226fs ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Frame_Shift_Ins_p.*161fs|ZNF511_ENST00000361518.5_Frame_Shift_Ins_p.*226fs Q8NB15 ZN511_HUMAN zinc finger protein 511 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 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) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) GATCTACAGACATAGGTCAGTG 0.574 26 111 --- --- --- --- PRB3 5544 broad.mit.edu 37 12 11420746 11420746 + RNA DEL G G - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:11420746delG ENST00000381842.3 - 0 474 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TCCTCCTTGTGGGGGTGGTCC 0.652 8 150 --- --- --- --- PRB3 5544 broad.mit.edu 37 12 11420809 11420809 + RNA DEL G G - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:11420809delG ENST00000381842.3 - 0 411 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TCCTCCTTGTGGGGGTGGTCC 0.647 32 243 --- --- --- --- RP11-478C19.2 0 broad.mit.edu 37 12 110868215 110868216 + RNA DEL GT GT - rs113592903 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:110868215_110868216delGT ENST00000550231.1 - 0 97 CAgtgtgtgcgtgtgtgtgtgt 0.490 2 4 --- --- --- --- SNW1 22938 broad.mit.edu 37 14 78205113 78205127 + Splice_Site DEL ATTCATACCGGATAT ATTCATACCGGATAT - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:78205113_78205127delATTCATACCGGATAT ENST00000261531.7 - 5 589_596 c.533_splice c.e5+1 p.176_splice SNW1_ENST00000555761.1_Splice_Site_p.176_splice|SNW1_ENST00000554775.1_Splice_Site_p.14_splice|SLIRP_ENST00000557431.1_Intron NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 176 SNW. negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TCTAGGCATGATTCATACCGGATATACTGAGCAGG 0.423 9 34 --- --- --- --- RHCG 51458 broad.mit.edu 37 15 90023607 90023608 + Frame_Shift_Ins INS - - T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:90023607_90023608insT ENST00000268122.4 - 4 622_623 c.554_555insA c.(553-555)cacfs p.H185fs RHCG_ENST00000544600.1_Frame_Shift_Ins_p.H185fs NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 185 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) CGCCAAATGTGTGGATGGTCAT 0.579 21 100 --- --- --- --- RNF213 57674 broad.mit.edu 37 17 78291021 78291021 + Frame_Shift_Del DEL G G - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:78291021delG ENST00000582970.1 + 16 2988 c.2845delG c.(2845-2847)cgfs p.A949fs RNF213_ENST00000508628.2_Frame_Shift_Del_p.A998fs|RNF213_ENST00000319921.4_Frame_Shift_Del_p.A949fs|RNF213_ENST00000456466.1_Frame_Shift_Del_p.A949fs NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 949 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCAATTCCCCGCGGAGCATGG 0.562 15 61 --- --- --- --- LOC644669 644669 broad.mit.edu 37 18 15322312 15322313 + RNA INS - - ATT TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:15322312_15322313insATT ENST00000455308.2 - 0 594 NR_027417.1 GAGATAACTTCATTATTAGGAA 0.347 10 39 --- --- --- ---