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 NOTCH1 4851 broad.mit.edu 37 9 139412359 139412359 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr9:139412359C>T ENST00000277541.6 - 8 1361 c.1286G>A c.(1285-1287)tGc>tAc p.C429Y NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 429 EGF-like 11; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGTGTTGATGCACTTGCCCGC 0.662000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 38 37 0 0 0.086207 0 0 ANKRD17 26057 broad.mit.edu 37 4 73984419 73984419 + Missense_Mutation SNP C C G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr4:73984419C>G ENST00000358602.4 - 22 4290 c.4174G>C c.(4174-4176)Gca>Cca p.A1392P ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1279P|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1141P NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1392 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTAAATGCTGCCATAAGAGGA 0.423000 47 19 0 0 0.139131 0 0 JAK1 3716 broad.mit.edu 37 1 65301898 65301898 + Splice_Site SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:65301898C>T ENST00000342505.4 - 23 3389 c.3140_splice c.e23-1 p.W1047_splice NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1047 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) CTGGAGCATACCTTGAAAGGA 0.403000 Mis ALL 15 6 0 0 0.033300 0 0 C20orf26 26074 broad.mit.edu 37 20 20177278 20177278 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr20:20177278G>A ENST00000245957.5 + 16 1731 c.1655G>A c.(1654-1656)cGc>cAc p.R552H C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 552 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CACCACCAGCGCGAAGAACAC 0.463000 42 80 0 0 0.104719 0 0 NRCAM 4897 broad.mit.edu 37 7 107831704 107831704 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:107831704C>T ENST00000379028.3 - 19 2397 c.1927G>A c.(1927-1929)Gtt>Att p.V643I NRCAM_ENST00000413765.2_Missense_Mutation_p.V624I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V624I|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.V643I|NRCAM_ENST00000425651.2_Missense_Mutation_p.V643I Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 643 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TTACCGTAAACGGGAGCTGGA 0.318000 9 15 0 0 0.093190 0 0 RYR1 6261 broad.mit.edu 37 19 39013683 39013683 + Silent SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:39013683G>A ENST00000355481.4 + 68 10406 c.10275G>A c.(10273-10275)acG>acA p.T3425T RYR1_ENST00000360985.3_Silent_p.T3425T|RYR1_ENST00000359596.3_Silent_p.T3425T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3425 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGTGGCTGACGGAGCCGAATC 0.662000 12 8 0 0 0.080935 0 0 CABS1 85438 broad.mit.edu 37 4 71201892 71201892 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr4:71201892A>T ENST00000273936.4 + 1 1195 c.1136A>T c.(1135-1137)gAa>gTa p.E379V NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 379 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TCCACAACTGAAACGGATATC 0.398000 29 12 0 0 0.125774 0 0 SPATA17 128153 broad.mit.edu 37 1 217955658 217955658 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:217955658A>G ENST00000366933.4 + 8 921 c.866A>G c.(865-867)gAc>gGc p.D289G RP11-415L24.1_ENST00000415765.1_RNA NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 289 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AATGTAAATGACAATATGTGA 0.363000 15 27 0 0 0.033300 0 0 FAM134C 162427 broad.mit.edu 37 17 40734008 40734008 + Silent SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:40734008C>A ENST00000309428.5 - 9 1283 c.1224G>T c.(1222-1224)ctG>ctT p.L408L FAM134C_ENST00000585894.1_Silent_p.L311L|FAM134C_ENST00000543197.1_Silent_p.L213L NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 408 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) CTGACAAGGCCAGCTGAATCA 0.622000 27 47 2.79863e-10 3.18688e-10 0.099896 1 0 KCNJ12 3768 broad.mit.edu 37 17 21319078 21319078 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:21319078A>T ENST00000583088.1 + 3 1319 c.424A>T c.(424-426)Acc>Tcc p.T142S KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142S NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CGAGACGCAGACCACCATCGG 0.657000 Prostate(3;0.18) 13 63 0 0 0.119110 0 0 ITGB1 3688 broad.mit.edu 37 10 33199209 33199209 + Nonsense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr10:33199209A>C ENST00000396033.2 - 14 2241 c.2106T>G c.(2104-2106)taT>taG p.Y702* ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Y702* NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 702 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) AATACGTAAAATAGAACCAAC 0.433000 17 8 0 0 0.049695 0 0 THADA 63892 broad.mit.edu 37 2 43819112 43819112 + Silent SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr2:43819112T>C ENST00000403856.1 - 4 297 c.150A>G c.(148-150)tcA>tcG p.S50S THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Silent_p.S50S|THADA_ENST00000405006.4_Silent_p.S50S|THADA_ENST00000402360.2_Silent_p.S50S|THADA_ENST00000404790.1_Silent_p.S50S Q6YHU6 THADA_HUMAN thyroid adenoma associated 50 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AATGGATTTGTGACACTCCAT 0.313000 5 2 0 0 0.029380 0 0 CREBBP 1387 broad.mit.edu 37 16 3788605 3788605 + Missense_Mutation SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr16:3788605T>C ENST00000262367.5 - 26 5158 c.4349A>G c.(4348-4350)tAc>tGc p.Y1450C CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1412C NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1450 Cys/His-rich. Y -> H (in RSTS1). cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.Y1450C(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GATCTCATGGTAAACGGCTGT 0.398000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 20 3 0 0 0.069288 0 0 CXorf22 170063 broad.mit.edu 37 X 35966561 35966561 + Silent SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chrX:35966561A>G ENST00000297866.5 + 4 714 c.648A>G c.(646-648)gaA>gaG p.E216E NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 216 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TTGTAGATGAAGAGGCAATGT 0.373000 37 9 0 0 0.098360 0 0 CCDC89 220388 broad.mit.edu 37 11 85396180 85396180 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:85396180G>A ENST00000316398.3 - 1 1140 c.994C>T c.(994-996)Cgc>Tgc p.R332C NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 332 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TCTACTTTGCGCTGAAGCTCC 0.498000 23 71 0 0 0.076483 0 0 ZNF440 126070 broad.mit.edu 37 19 11943141 11943141 + Nonsense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:11943141C>T ENST00000304060.5 + 4 1314 c.1150C>T c.(1150-1152)Cga>Tga p.R384* NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CAGTTCCCTTCGATATCATGA 0.433000 27 22 0 0 0.091800 0 0 MUC17 140453 broad.mit.edu 37 7 100684754 100684754 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:100684754G>A ENST00000306151.4 + 3 10121 c.10057G>A c.(10057-10059)Gtc>Atc p.V3353I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3353 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACGCCAGTGGTCAGTTCTGA 0.483000 450 370 0 0 0.139131 0 0 KCNV1 27012 broad.mit.edu 37 8 110980617 110980617 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr8:110980617G>T ENST00000524391.1 - 4 2235 c.1203C>A c.(1201-1203)gaC>gaA p.D401E KCNV1_ENST00000297404.1_Missense_Mutation_p.D401E Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 401 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CTGTGGTGGTGTCTGGTCTAA 0.478000 43 73 4.67007e-22 5.78618e-22 0.104719 1 0 TMEM147 10430 broad.mit.edu 37 19 36037859 36037859 + Silent SNP A A G rs35486099 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:36037859A>G ENST00000392204.2 + 4 538 c.210A>G c.(208-210)ctA>ctG p.L70L TMEM147_ENST00000222284.5_Silent_p.L119L|TMEM147_ENST00000392205.1_Silent_p.L119L NM_001242597.1 NP_001229526.1 Q9BVK8 TM147_HUMAN transmembrane protein 147 119 endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCATTCCCCTATGGGTCGGAG 0.562000 55 57 0 0 0.139131 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:7578271T>C ENST00000420246.2 - 6 710 c.578A>G c.(577-579)cAt>cGt p.H193R TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGGATAAGATGCTGAGGAGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 8 0 0 0.092188 0 0 AXIN1 8312 broad.mit.edu 37 16 343545 343545 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr16:343545G>C ENST00000262320.3 - 8 2500 c.2129C>G c.(2128-2130)gCg>gGg p.A710G AXIN1_ENST00000354866.3_Missense_Mutation_p.A710G NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 710 Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) ACGTCGGCGCGCCTCCTCCAG 0.667000 81 24 0 0 0.139131 0 0 OR8B4 283162 broad.mit.edu 37 11 124294456 124294456 + Missense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:124294456A>C ENST00000356130.3 - 1 333 c.312T>G c.(310-312)tgT>tgG p.C104W NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGACAAAGAAACAGAAGAAAA 0.423000 16 51 0 0 0.038395 0 0 NLRP6 171389 broad.mit.edu 37 11 284488 284488 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:284488G>A ENST00000534750.1 + 7 2588 c.2383G>A c.(2383-2385)Gac>Aac p.D795N NLRP6_ENST00000312165.5_Missense_Mutation_p.D796N NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 796 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) ACAGCTGCCTGACCCCCAGCG 0.697000 18 7 0 0 0.055883 0 0 MEN1 4221 broad.mit.edu 37 11 64577227 64577227 + Nonsense_Mutation SNP T T A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:64577227T>A ENST00000337652.1 - 2 858 c.355A>T c.(355-357)Aag>Tag p.K119* MEN1_ENST00000394376.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.K119*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.K119*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.K119*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.K119*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.K119* NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 119 Missing (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.K119del(2)|p.R115fs*60(1)|p.S114fs*60(1) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 GAGACCTTCTTCACCAGCTCA 0.612000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 55 47 0 0 0.139131 0 0 IGSF11 152404 broad.mit.edu 37 3 118623581 118623581 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr3:118623581A>T ENST00000354673.2 - 8 1145 c.765T>A c.(763-765)ttT>ttA p.F255L IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000489689.1_Missense_Mutation_p.F232L|IGSF11_ENST00000425327.2_Missense_Mutation_p.F255L|IGSF11_ENST00000393775.2_Missense_Mutation_p.F256L|IGSF11_ENST00000441144.2_Missense_Mutation_p.F231L NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 256 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GTGCAATGCAAAAAATGATAA 0.348000 81 137 0 0 0.139131 0 0 ZNF687 57592 broad.mit.edu 37 1 151259689 151259689 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:151259689G>T ENST00000368879.2 + 2 1020 c.922G>T c.(922-924)Ggg>Tgg p.G308W NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCCCTCTAGTGGGGCCGAGGC 0.572000 29 42 4.87955e-14 5.65454e-14 0.108266 1 0 ZNF157 7712 broad.mit.edu 37 X 47271931 47271931 + Missense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chrX:47271931A>C ENST00000377073.3 + 4 545 c.459A>C c.(457-459)aaA>aaC p.K153N NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 153 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 TTAGACGTAAAAGAACACCCA 0.383000 21 5 0 0 0.062417 0 0 PNPLA8 50640 broad.mit.edu 37 7 108154727 108154727 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:108154727C>T ENST00000426128.2 - 3 1192 c.1067G>A c.(1066-1068)aGg>aAg p.R356K PNPLA8_ENST00000388728.5_Missense_Mutation_p.R356K|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R356K|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R356K|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R356K|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R256K NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 356 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 AATACTCACCCTTGCGATAAT 0.348000 157 156 0 0 0.139131 0 0 ENTPD4 9583 broad.mit.edu 37 8 23243522 23243522 + Silent SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr8:23243522A>T ENST00000356206.6 - 13 1870 c.1635T>A c.(1633-1635)ggT>ggA p.G545G LOXL2_ENST00000389131.3_Intron Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 0 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) gCTTTGGacaaccccctgagc 0.463000 39 14 0 0 0.117977 0 0 C17orf75 64149 broad.mit.edu 37 17 30668273 30668273 + Silent SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:30668273G>A ENST00000577809.1 - 2 220 c.171C>T c.(169-171)gaC>gaT p.D57D C17orf75_ENST00000225805.4_Silent_p.D57D|RP11-227G15.3_ENST00000581915.1_RNA NM_022344.3 NP_071739.2 Q9HAS0 NJMU_HUMAN chromosome 17 open reading frame 75 57 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TTGGGCTTCCGTCCTCACTGT 0.478000 93 148 0 0 0.139131 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4498321 4498321 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:4498321A>G ENST00000301284.4 + 12 1485 c.1421A>G c.(1420-1422)aAg>aGg p.K474R HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K474R NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 474 transcription, DNA-dependent nucleus DNA binding|protein binding GTGGAGGAGAAGCTGCAGAAG 0.647000 25 19 0 0 0.108266 0 0 SLC6A5 9152 broad.mit.edu 37 11 20652257 20652257 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:20652257G>A ENST00000525748.1 + 10 1793 c.1520G>A c.(1519-1521)tGc>tAc p.C507Y SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 507 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) ATTGTCACCTGCACCAACAGT 0.493000 5 115 0 0 0.021553 0 0 CBLB 868 broad.mit.edu 37 3 105572471 105572471 + Missense_Mutation SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr3:105572471T>C ENST00000264122.4 - 3 527 c.206A>G c.(205-207)aAt>aGt p.N69S CBLB_ENST00000394027.3_Missense_Mutation_p.N91S|CBLB_ENST00000405772.1_Missense_Mutation_p.N69S|CBLB_ENST00000545639.1_Missense_Mutation_p.N91S|CBLB_ENST00000403724.1_Missense_Mutation_p.N69S NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 69 4H.|Cbl-PTB. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 TGGTGGGCTATTTTTCAACTG 0.289000 Mis S AML 58 6 0 0 0.139131 0 0 OR4D6 219983 broad.mit.edu 37 11 59224764 59224764 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:59224764G>T ENST00000300127.2 + 1 354 c.331G>T c.(331-333)Gat>Tat p.D111Y NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 111 D -> A (in dbSNP:rs17500380). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TGGTGGGGCAGATATTTTTTT 0.483000 50 139 3.76525e-18 4.49548e-18 0.139131 1 0 TPTE 7179 broad.mit.edu 37 21 10942773 10942773 + Splice_Site SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr21:10942773A>G ENST00000298232.7 - 12 981 c.612_splice c.e12-1 p.V205_splice TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.V185_splice|TPTE_ENST00000361285.4_Splice_Site_p.V223_splice NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 223 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) GTTTTCTGAAACCTGACAGTT 0.348000 51 289 0 0 0.139131 0 0 ZBTB14 7541 broad.mit.edu 37 18 5291170 5291170 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr18:5291170G>A ENST00000357006.4 - 4 1375 c.1037C>T c.(1036-1038)cCa>cTa p.P346L ZBTB14_ENST00000400143.3_Missense_Mutation_p.P346L NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 CTTTAAGTCTGGGGCACGGAT 0.453000 48 76 0 0 0.139131 0 0 OR2L2 26246 broad.mit.edu 37 1 248202502 248202502 + Missense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:248202502A>C ENST00000366479.2 + 1 1029 c.933A>C c.(931-933)aaA>aaC p.K311N OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCTCAGTGAAAATGTAGACAT 0.443000 7 69 0 0 0.038147 0 0 STXBP4 252983 broad.mit.edu 37 17 53120624 53120624 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:53120624G>A ENST00000376352.2 + 11 1090 c.883G>A c.(883-885)Gat>Aat p.D295N STXBP4_ENST00000405898.1_Missense_Mutation_p.D295N|STXBP4_ENST00000434978.2_Missense_Mutation_p.D295N|STXBP4_ENST00000299341.4_Missense_Mutation_p.D220N|STXBP4_ENST00000398391.2_Missense_Mutation_p.D220N NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 295 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 TTCAGAAGCAGATGAAATGGA 0.313000 5 9 0 0 0.014758 0 0 TAF1C 9013 broad.mit.edu 37 16 84214963 84214963 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr16:84214963G>A ENST00000567759.1 - 10 1395 c.1213C>T c.(1213-1215)Cgc>Tgc p.R405C TAF1C_ENST00000378541.4_Missense_Mutation_p.R405C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R312C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R73C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R312C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R379C NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 405 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 ACTCCGGTGCGGTCACCCACG 0.667000 15 4 0 0 0.132662 0 0 HSPA6 3310 broad.mit.edu 37 1 161495385 161495385 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:161495385C>T ENST00000309758.4 + 1 1350 c.937C>T c.(937-939)Cgc>Tgc p.R313C NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 313 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGACCTCTTCCGCAGCACCCT 0.632000 5 30 0 0 0.021553 0 0 PALB2 79728 broad.mit.edu 37 16 23646401 23646401 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr16:23646401G>A ENST00000261584.4 - 4 1618 c.1466C>T c.(1465-1467)tCt>tTt p.S489F NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 489 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) CCCAGCGGGAGAGCTGACTTT 0.468000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 21 163 0 0 0.062417 0 0 APOH 350 broad.mit.edu 37 17 64224252 64224252 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:64224252G>C ENST00000205948.6 - 2 164 c.127C>G c.(127-129)Cca>Gca p.P43A NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 43 Sushi 1. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TCTTCTCCTGGCTCATAGAAT 0.483000 76 97 0 0 0.139131 0 0 ESPL1 9700 broad.mit.edu 37 12 53662897 53662897 + Nonsense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr12:53662897C>A ENST00000257934.4 + 3 262 c.171C>A c.(169-171)tgC>tgA p.C57* ESPL1_ENST00000552462.1_Nonsense_Mutation_p.C57* NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 57 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 TGAGGGCTTGCAACCAGCAGC 0.572000 40 31 1.96642e-18 2.37659e-18 0.092188 1 0 SRPK2 6733 broad.mit.edu 37 7 104787081 104787081 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:104787081G>T ENST00000357311.3 - 7 784 c.613C>A c.(613-615)Cac>Aac p.H205N SRPK2_ENST00000393651.3_Missense_Mutation_p.H216N|SRPK2_ENST00000489828.1_Missense_Mutation_p.H205N NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 205 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 CACTTACTGTGTAAGTAATCT 0.338000 10 37 3.03607e-14 3.53909e-14 0.093190 1 0 DRC1 92749 broad.mit.edu 37 2 26654844 26654844 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr2:26654844G>T ENST00000288710.2 + 7 932 c.858G>T c.(856-858)atG>atT p.M286I DRC1_ENST00000483675.1_3'UTR NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) AATACAACATGATCAAGATCA 0.498000 34 43 2.85442e-18 3.42878e-18 0.045705 1 0 MYO1C 4641 broad.mit.edu 37 17 1386944 1386944 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:1386944G>A ENST00000359786.5 - 3 631 c.307C>T c.(307-309)Cgt>Tgt p.R103C MYO1C_ENST00000438665.2_Missense_Mutation_p.R84C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R79C|MYO1C_ENST00000575158.1_Missense_Mutation_p.R68C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R68C NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 103 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCACGGTAACGCTCCATATGC 0.627000 6 13 0 0 0.029380 0 0 TRANK1 9881 broad.mit.edu 37 3 36873305 36873305 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr3:36873305C>A ENST00000301807.6 - 21 7884 c.5987G>T c.(5986-5988)cGg>cTg p.R1996L TRANK1_ENST00000429976.2_Missense_Mutation_p.R2546L|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1996L NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2546 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CTCAATCTCCCGGAAGTGGCG 0.582000 38 10 1.36161e-19 1.66607e-19 0.069456 1 0 CLVS1 157807 broad.mit.edu 37 8 62289235 62289235 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr8:62289235A>G ENST00000519846.1 + 4 999 c.527A>G c.(526-528)cAg>cGg p.Q176R CLVS1_ENST00000325897.4_Missense_Mutation_p.Q176R|CLVS1_ENST00000518592.1_5'UTR Q8IUQ0 CLVS1_HUMAN clavesin 1 176 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCGGAGCTTCAGATAAATGGC 0.448000 3 82 0 0 0.115264 0 0 OR5H15 403274 broad.mit.edu 37 3 97888085 97888085 + Missense_Mutation SNP C C A rs62266800 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr3:97888085C>A ENST00000356526.2 + 1 542 c.542C>A c.(541-543)aCt>aAt p.T181N NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 TACTGTGACACTATCCCATTG 0.313000 24 4 1.04121e-07 1.15235e-07 0.108266 1 0 AXIN1 8312 broad.mit.edu 37 16 343549 343549 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr16:343549C>T ENST00000262320.3 - 8 2496 c.2125G>A c.(2125-2127)Gag>Aag p.E709K AXIN1_ENST00000354866.3_Missense_Mutation_p.E709K NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 709 Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CGGCGCGCCTCCTCCAGCTGG 0.677000 86 25 0 0 0.139131 0 0 KRT32 3882 broad.mit.edu 37 17 39616390 39616390 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:39616390C>A ENST00000225899.3 - 7 1422 c.1319G>T c.(1318-1320)tGc>tTc p.C440F NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 440 Tail. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) GCAGGGTGAGCAAGGCATGCC 0.647000 15 22 0.000422831 0.000450258 0.146539 1 0 S1PR4 8698 broad.mit.edu 37 19 3179935 3179935 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:3179935G>A ENST00000246115.3 + 1 1200 c.1145G>A c.(1144-1146)cGg>cAg p.R382Q NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 382 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 TCCAGCGTGCGGAGCATCTGA 0.652000 50 55 0 0 0.139131 0 0 RINL 126432 broad.mit.edu 37 19 39361466 39361466 + Silent SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:39361466C>T ENST00000340740.3 - 8 813 c.426G>A c.(424-426)gaG>gaA p.E142E CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000602238.1_5'UTR|RINL_ENST00000598904.1_Silent_p.E142E|RINL_ENST00000591812.1_Silent_p.E256E NM_001195833.1|NM_198445.3 NP_001182762.1|NP_940847.1 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 142 GTPase activator activity endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2) 17 TGAGCACGTCCTCAGGGCCTT 0.617000 29 82 0 0 0.125774 0 0 GRN 2896 broad.mit.edu 37 17 42429495 42429495 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:42429495C>T ENST00000053867.3 + 11 1354 c.1292C>T c.(1291-1293)gCc>gTc p.A431V GRN_ENST00000589265.1_Missense_Mutation_p.A274V NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 431 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) AAGATGCCTGCCCGCCGGGCT 0.667000 55 57 0 0 0.139131 0 0 UBE2M 9040 broad.mit.edu 37 19 59068277 59068277 + Silent SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:59068277C>T ENST00000253023.3 - 3 803 c.225G>A c.(223-225)aaG>aaA p.K75K NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 75 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TGAACACAAACTTCCCACTCT 0.567000 25 10 0 0 0.099896 0 0 DGKG 1608 broad.mit.edu 37 3 185986617 185986617 + Silent SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr3:185986617C>T ENST00000265022.3 - 12 1628 c.1089G>A c.(1087-1089)gcG>gcA p.A363A DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Silent_p.A363A|DGKG_ENST00000544847.1_Intron NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 363 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CGCAGTGCCGCGCGGTGACAC 0.612000 21 30 0 0 0.062417 0 0 TTN 7273 broad.mit.edu 37 2 179581995 179581995 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr2:179581995C>A ENST00000589042.1 - 88 25690 c.25466G>T c.(25465-25467)tGg>tTg p.W8489L TTN_ENST00000342992.6_Missense_Mutation_p.W7245L|TTN_ENST00000591111.1_Missense_Mutation_p.W8172L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8172 Ig-like 67. 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) ATCTTTGGCCCAAGTGATTTT 0.428000 34 37 4.3181e-19 5.25102e-19 0.054565 1 0 KIF13A 63971 broad.mit.edu 37 6 17764996 17764996 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr6:17764996C>A ENST00000378814.5 - 37 4618 c.4619G>T c.(4618-4620)cGt>cTt p.R1540L KIF13A_ENST00000378843.2_Missense_Mutation_p.R1540L|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1588L|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1553L|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1553L NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1588 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GGTAGGGCTACGGGACACTTC 0.502000 11 6 3.86212e-05 4.15758e-05 0.069234 1 0 NCAM2 4685 broad.mit.edu 37 21 22881352 22881352 + Missense_Mutation SNP T T A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr21:22881352T>A ENST00000400546.1 + 16 2507 c.2258T>A c.(2257-2259)cTc>cAc p.L753H NCAM2_ENST00000284894.7_Missense_Mutation_p.L611H NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 753 neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AGTAAAGAACTCGAAGAAGGA 0.463000 30 31 0 0 0.125774 0 0 ZNF687 57592 broad.mit.edu 37 1 151259690 151259690 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:151259690G>T ENST00000368879.2 + 2 1021 c.923G>T c.(922-924)gGg>gTg p.G308V NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCCTCTAGTGGGGCCGAGGCT 0.567000 31 43 7.26314e-15 8.5169e-15 0.125774 1 0 GGNBP2 79893 broad.mit.edu 37 17 34912940 34912940 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:34912940G>C ENST00000304718.4 + 4 508 c.192G>C c.(190-192)aaG>aaC p.K64N NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 64 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GTATGCTTAAGCAACAGGATC 0.443000 55 75 0 0 0.139131 0 0 CACNA1G 8913 broad.mit.edu 37 17 48699024 48699024 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:48699024C>A ENST00000354983.4 + 33 6199 c.5827C>A c.(5827-5829)Cct>Act p.P1943T CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1966T|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1977T|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1906T|CACNA1G_ENST00000442258.2_Intron NM_198396.2 NP_938406.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1977 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGTCTAGATCCCTCTAGCTGA 0.562000 13 28 9.31168e-06 1.00791e-05 0.105934 1 0 ADCY10 55811 broad.mit.edu 37 1 167865864 167865864 + Silent SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:167865864G>A ENST00000367848.1 - 7 929 c.432C>T c.(430-432)ttC>ttT p.F144F ADCY10_ENST00000545172.1_Silent_p.F83F|ADCY10_ENST00000367851.4_Silent_p.F236F Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 236 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AATAATGCATGAAGGTCGTAC 0.368000 57 281 0 0 0.139131 0 0 ARID3A 1820 broad.mit.edu 37 19 971943 971943 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:971943G>C ENST00000263620.3 + 9 1987 c.1660G>C c.(1660-1662)Ggc>Cgc p.G554R NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 554 Gly-rich.|Important for cytoplasmic localization (By similarity). cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) Aggcggcggcggcggcggcag 0.667000 16 47 0 0 0.146539 0 0 DOCK6 57572 broad.mit.edu 37 19 11323947 11323947 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:11323947G>A ENST00000294618.7 - 35 4407 c.4396C>T c.(4396-4398)Ctc>Ttc p.L1466F DOCK6_ENST00000319867.7_Missense_Mutation_p.L805F|CTC-510F12.2_ENST00000588634.1_RNA NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1466 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 TGTCGTAGGAGCCTCAGGCAC 0.652000 12 30 0 0 0.080935 0 0 XIST 7503 broad.mit.edu 37 X 73071310 73071310 + RNA SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chrX:73071310C>T ENST00000429829.1 - 0 1278 NR_001564.2 TTGAACACTGCGACAGAACTG 0.527000 113 24 0 0 0.139131 0 0 WNT11 7481 broad.mit.edu 37 11 75907652 75907652 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:75907652A>G ENST00000322563.3 - 2 318 c.194T>C c.(193-195)cTc>cCc p.L65P NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 65 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 CGTGTGCATGAGCTCCAGGTT 0.647000 40 26 0 0 0.092188 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr9:21971029C>T ENST00000304494.5 - 2 599 c.329G>A c.(328-330)tGg>tAg p.W110* CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Silent_p.L124L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 43 5 0 0 0.104719 0 0 TNRC18 84629 broad.mit.edu 37 7 5391493 5391493 + Silent SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:5391493C>T ENST00000399537.4 - 17 5775 c.5427G>A c.(5425-5427)gcG>gcA p.A1809A TNRC18_ENST00000430969.1_Silent_p.A1809A O15417 TNC18_HUMAN trinucleotide repeat containing 18 1809 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) AGGAGGAACGCGCCTCGGCCT 0.592000 15 12 0 0 0.146539 0 0 PRB3 5544 broad.mit.edu 37 12 11421068 11421068 + RNA SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr12:11421068G>A ENST00000381842.3 - 0 152 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_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) TGTGGGCGTCGTCCTTCTGGC 0.547000 57 92 0 0 0.139131 0 0 KSR1 8844 broad.mit.edu 37 17 25783823 25783823 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:25783823A>T ENST00000319524.6 + 1 154 c.154A>T c.(154-156)Atc>Ttc p.I52F KSR1_ENST00000509603.2_Missense_Mutation_p.I52F Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 50 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CGACATCTCCATCGGCAGCCT 0.716000 29 32 0 0 0.059317 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 4 21 0 0 0.014758 0 0 TMPO 7112 broad.mit.edu 37 12 98931317 98931317 + Silent SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr12:98931317A>T ENST00000556029.1 + 4 986 c.630A>T c.(628-630)gtA>gtT p.V210V TMPO_ENST00000393053.2_Silent_p.V210V|TMPO_ENST00000343315.5_Silent_p.V210V|TMPO_ENST00000261210.5_Silent_p.V210V NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin 210 NAKAP95-binding N.|Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGACTCCAGTAACACTCAAGC 0.388000 7 14 0 0 0.029380 0 0 KIAA1958 158405 broad.mit.edu 37 9 115407987 115407987 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr9:115407987A>G ENST00000337530.6 + 3 1525 c.1229A>G c.(1228-1230)gAt>gGt p.D410G KIAA1958_ENST00000536272.1_Missense_Mutation_p.D438G NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 410 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 GACTTGAATGATCTGTGTACC 0.383000 16 40 0 0 0.038395 0 0 BCAP29 55973 broad.mit.edu 37 7 107234422 107234422 + Silent SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:107234422A>G ENST00000379119.2 + 3 230 c.216A>G c.(214-216)aaA>aaG p.K72K BCAP29_ENST00000445771.2_Silent_p.K72K|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379117.2_Silent_p.K72K|BCAP29_ENST00000005259.4_Silent_p.K72K|BCAP29_ENST00000465919.1_5'UTR NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 72 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 AAGTAAGGAAATATTCCTCAG 0.353000 49 33 0 0 0.139131 0 0 VWA3A 146177 broad.mit.edu 37 16 22134933 22134933 + Splice_Site SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr16:22134933G>T ENST00000389397.4 + 16 1533 c.e16-1 VWA3A_ENST00000389398.5_Splice_Site A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CACTTCTGCAGCAACAGCTCA 0.572000 38 85 2.35968e-33 3.09905e-33 0.080422 1 0 LRP1B 53353 broad.mit.edu 37 2 141359067 141359067 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr2:141359067A>T ENST00000389484.3 - 42 7912 c.6941T>A c.(6940-6942)aTg>aAg p.M2314K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2314 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) ATCTTCTGACATGGTGATGAC 0.428000 TSP Lung(27;0.18) 13 36 0 0 0.119110 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055160 9055160 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr3:9055160C>A ENST00000383836.3 - 17 2406 c.1979G>T c.(1978-1980)gGg>gTg p.G660V SRGAP3_ENST00000360413.3_Missense_Mutation_p.G636V NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 660 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GAGGGTAGGCCCGAAGCAGAT 0.527000 T RAF1 pilocytic astrocytoma 8 36 5.18039e-06 5.66965e-06 0.038147 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 134 0 0 0.115264 0 0 PRRX1 5396 broad.mit.edu 37 1 170695536 170695536 + Missense_Mutation SNP C C G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:170695536C>G ENST00000239461.6 + 3 906 c.593C>G c.(592-594)cCg>cGg p.P198R PRRX1_ENST00000367760.3_Missense_Mutation_p.P198R|PRRX1_ENST00000497230.2_Missense_Mutation_p.P198R|PRRX1_ENST00000476867.2_3'UTR NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 198 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACAGCGTCTCCGTACAGGTGA 0.562000 25 37 0 0 0.116897 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22864434 22864434 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr8:22864434C>T ENST00000251822.6 + 5 1213 c.676C>T c.(676-678)Cgg>Tgg p.R226W RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R233W|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R248W NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 226 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CAATGTGCAGCGGCCTCTGCT 0.662000 52 19 0 0 0.139131 0 0 ANKK1 255239 broad.mit.edu 37 11 113266828 113266828 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:113266828G>C ENST00000303941.3 + 5 816 c.722G>C c.(721-723)gGc>gCc p.G241A NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 241 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GTGGCGGCAGGCATGCGGCCC 0.597000 22 52 0 0 0.083992 0 0 USP16 10600 broad.mit.edu 37 21 30419482 30419482 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr21:30419482C>A ENST00000334352.4 + 15 2082 c.1851C>A c.(1849-1851)ttC>ttA p.F617L USP16_ENST00000535828.1_Missense_Mutation_p.F246L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 617 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 AAACTGCTTTCTGTACTCTTG 0.363000 62 13 9.4991e-31 1.23929e-30 0.139131 1 0 TNRC6B 23112 broad.mit.edu 37 22 40658079 40658079 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr22:40658079G>T ENST00000454349.2 + 4 570 c.359G>T c.(358-360)gGt>gTt p.G120V TNRC6B_ENST00000301923.9_Missense_Mutation_p.G156V|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G156V|TNRC6B_ENST00000335727.8_Missense_Mutation_p.G120V NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 120 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CTCCTTGGGGGTGGGGCAGGG 0.632000 8 1 0.00448238 0.00469696 0.047766 1 0 GIMAP6 474344 broad.mit.edu 37 7 150325295 150325295 + Nonsense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:150325295G>A ENST00000328902.5 - 3 607 c.391C>T c.(391-393)Caa>Taa p.Q131* GIMAP6_ENST00000493969.1_Missense_Mutation_p.T56I NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 131 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGGCCCAGTTGTGTCACCAGG 0.632000 17 89 0 0 0.033300 0 0 COL1A2 1278 broad.mit.edu 37 7 94038122 94038122 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:94038122C>A ENST00000297268.6 + 16 1250 c.779C>A c.(778-780)gCc>gAc p.A260D NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 260 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTCCCAGGTGCCCCTGGCCCC 0.433000 HNSCC(75;0.22) 7 63 1.26484e-09 1.42385e-09 0.038147 1 0 USP32P2 220594 broad.mit.edu 37 17 18420772 18420772 + RNA SNP G G A rs28569074 by1000genomes TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:18420772G>A ENST00000425211.1 - 0 1705 AATTGAAATCGCTTAAGGTGA 0.343000 5 65 0 0 0.069234 0 0 OR51A4 401666 broad.mit.edu 37 11 4967665 4967665 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:4967665G>C ENST00000380373.2 - 1 691 c.666C>G c.(664-666)atC>atG p.I222M MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 222 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) CAGTCTTGAGGATCAGGGTGT 0.433000 23 13 0 0 0.076483 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140734960 140734960 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr5:140734960C>T ENST00000571252.1 + 1 193 c.193C>T c.(193-195)Cgc>Tgc p.R65C PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGAGTCCGCATCGTCTC 0.647000 51 23 0 0 0.139131 0 0 MIR519A2 574500 broad.mit.edu 37 19 54265626 54265626 + RNA SNP C C T rs142071806 by1000genomes TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:54265626C>T ENST00000384990.1 + 0 29 NR_030222.1 TACAGGGAAGCGCTTTCTGTT 0.408000 65 60 0 0 0.139131 0 0 FOXR2 139628 broad.mit.edu 37 X 55650824 55650824 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chrX:55650824C>T ENST00000339140.3 + 1 992 c.680C>T c.(679-681)cCc>cTc p.P227L NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 227 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 CAGCATTTCCCCTTTTTCTGG 0.498000 52 7 0 0 0.139131 0 0 SLC6A4 6532 broad.mit.edu 37 17 28534763 28534763 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:28534763G>C ENST00000401766.2 - 12 2149 c.1637C>G c.(1636-1638)cCt>cGt p.P546R SLC6A4_ENST00000261707.3_Missense_Mutation_p.P546R P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 546 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GAGAAACAGAGGGCTGATGGC 0.562000 13 32 0 0 0.146539 0 0 SH3GL1 6455 broad.mit.edu 37 19 4365608 4365608 + Silent SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:4365608G>A ENST00000269886.3 - 4 380 c.202C>T c.(202-204)Ctg>Ttg p.L68L SH3GL1_ENST00000417295.2_Intron|SH3GL1_ENST00000598564.1_Silent_p.L68L NM_003025.3 NP_003016.1 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 68 BAR.|Required for dimerization upon membrane association (By similarity). central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) AGCATGGTCAGCTTAGCCCGC 0.662000 T MLL AL 40 47 0 0 0.111260 0 0 RBP3 5949 broad.mit.edu 37 10 48388214 48388214 + Silent SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr10:48388214G>T ENST00000224600.4 - 1 2777 c.2664C>A c.(2662-2664)ccC>ccA p.P888P NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 888 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) ATGCATATAAGGGGCTGCTGC 0.647000 18 13 6.94344e-10 7.86125e-10 0.038395 1 0 MUC17 140453 broad.mit.edu 37 7 100676474 100676474 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:100676474A>G ENST00000306151.4 + 3 1841 c.1777A>G c.(1777-1779)Act>Gct p.T593A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 593 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACTTCAACAACTCCTGCTGA 0.478000 8 665 0 0 0.038147 0 0 PCF11 51585 broad.mit.edu 37 11 82881002 82881002 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:82881002C>A ENST00000298281.4 + 8 4077 c.3625C>A c.(3625-3627)Cca>Aca p.P1209T NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 1209 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TATACCTGCTCCAATGACAGT 0.348000 12 14 3.07112e-06 3.37994e-06 0.080935 1 0 ANK3 288 broad.mit.edu 37 10 61819590 61819590 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr10:61819590G>T ENST00000373827.2 - 40 5083 c.4913C>A c.(4912-4914)tCc>tAc p.S1638Y ANK3_ENST00000280772.1_Intron|ANK3_ENST00000503366.1_Missense_Mutation_p.S1645Y|ANK3_ENST00000355288.2_Missense_Mutation_p.S778Y|RP11-388P9.2_ENST00000414383.1_RNA NM_001204403.1 NP_001191332.1 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3705 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCCATCTGCGGAATGCTCTAT 0.468000 50 19 6.87076e-12 7.91544e-12 0.139131 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84582032 84582032 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr15:84582032C>A ENST00000286744.5 + 16 2113 c.1889C>A c.(1888-1890)gCc>gAc p.A630D ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A630D NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 630 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGAGCCCGGCCTCCCGAGAG 0.612000 58 14 6.60958e-23 8.29355e-23 0.139131 1 0 CD300E 342510 broad.mit.edu 37 17 72613588 72613588 + Silent SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:72613588C>T ENST00000392619.1 - 2 173 c.138G>A c.(136-138)aaG>aaA p.K46K CD300E_ENST00000328630.3_Silent_p.K19K|CD300E_ENST00000426295.2_Silent_p.K60K NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 19 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 AGCCGGGGCCCTTCAGAGACA 0.552000 25 18 0 0 0.091800 0 0 KIF21B 23046 broad.mit.edu 37 1 200967679 200967679 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:200967679G>A ENST00000332129.2 - 14 2226 c.1910C>T c.(1909-1911)gCc>gTc p.A637V KIF21B_ENST00000422435.2_Missense_Mutation_p.A637V|KIF21B_ENST00000461742.2_Missense_Mutation_p.A637V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A637V NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 637 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 AGTCAGGTCGGCCAGGTCCGC 0.587000 31 44 0 0 0.059317 0 0 HYAL4 23553 broad.mit.edu 37 7 123508362 123508362 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:123508362G>A ENST00000223026.4 + 3 673 c.35G>A c.(34-36)tGt>tAt p.C12Y HYAL4_ENST00000476325.1_Missense_Mutation_p.C12Y NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 12 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TTAAAGCTTTGTGTTGTTCAA 0.348000 42 75 0 0 0.111260 0 0 NELL2 4753 broad.mit.edu 37 12 44917184 44917184 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr12:44917184A>T ENST00000429094.2 - 17 2392 c.1888T>A c.(1888-1890)Tgt>Agt p.C630S NELL2_ENST00000452445.2_Missense_Mutation_p.C630S|NELL2_ENST00000437801.2_Missense_Mutation_p.C680S|NELL2_ENST00000551601.1_Missense_Mutation_p.C582S|NELL2_ENST00000395487.2_Missense_Mutation_p.C629S|NELL2_ENST00000549027.1_Missense_Mutation_p.C629S|NELL2_ENST00000333837.4_Missense_Mutation_p.C653S NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 630 EGF-like 6; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CCATGAGGACATCGACAATCA 0.448000 30 92 0 0 0.116897 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 119 0 0 0.115264 0 0 DCAF4 26094 broad.mit.edu 37 14 73404779 73404779 + Splice_Site SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr14:73404779G>A ENST00000553457.1 + 1 82 c.e1+1 DCAF4_ENST00000510612.1_Splice_Site|DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000353777.3_Splice_Site|DCAF4_ENST00000509153.1_Splice_Site|DCAF4_ENST00000358377.2_Splice_Site|DCAF4_ENST00000555042.1_Splice_Site Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 CTGAAGACAGGCAAGTGTGCC 0.527000 64 33 0 0 0.139131 0 0 ADCY1 107 broad.mit.edu 37 7 45614734 45614734 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:45614734G>T ENST00000297323.7 + 1 614 c.592G>T c.(592-594)Gtc>Ttc p.V198F ADCY1_ENST00000432715.1_5'UTR NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 198 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GCACTTGCTGGTCACAGCCAC 0.642000 17 27 2.5808e-16 3.04441e-16 0.038395 1 0 LIG4 3981 broad.mit.edu 37 13 108861972 108861972 + Missense_Mutation SNP T T A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr13:108861972T>A ENST00000356922.4 - 2 1917 c.1645A>T c.(1645-1647)Att>Ttt p.I549F LIG4_ENST00000405925.1_Missense_Mutation_p.I549F|LIG4_ENST00000442234.1_Missense_Mutation_p.I549F NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 549 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CAAGGTTCAATGTATACTTCT 0.403000 Non-homologous end-joining 34 13 0 0 0.059317 0 0 FAM102B 284611 broad.mit.edu 37 1 109170788 109170788 + Splice_Site SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:109170788G>C ENST00000370035.3 + 7 896 c.e7-1 FAM102B_ENST00000405454.1_Splice_Site NM_001010883.2 NP_001010883.2 Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) ACATATTACAGATCTTTCAGC 0.378000 25 10 0 0 0.091800 0 0 BAGE2 85319 broad.mit.edu 37 21 11098870 11098870 + RNA SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr21:11098870C>A ENST00000470054.1 - 0 55 B melanoma antigen family, member 2 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) ccaactcccccttctcctggt 0.622000 11 14 5.50884e-06 5.99581e-06 0.093190 1 0 CDK13 8621 broad.mit.edu 37 7 40037230 40037230 + Missense_Mutation SNP C C G rs34775357 byFrequency TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:40037230C>G ENST00000181839.4 + 3 2614 c.2009C>G c.(2008-2010)aCa>aGa p.T670R CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T670R NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 670 T -> R (in dbSNP:rs34775357). alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.T670R(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 GAAAAGAAAACAGCAACACAG 0.433000 3 123 0 0 0.115264 0 0 OSBPL3 26031 broad.mit.edu 37 7 24874174 24874174 + Silent SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:24874174G>A ENST00000313367.2 - 15 2128 c.1677C>T c.(1675-1677)ctC>ctT p.L559L OSBPL3_ENST00000431825.2_Silent_p.L492L|OSBPL3_ENST00000352860.1_Silent_p.L528L|OSBPL3_ENST00000396431.1_Silent_p.L528L|OSBPL3_ENST00000409069.1_Silent_p.L492L|OSBPL3_ENST00000396429.1_Silent_p.L523L|OSBPL3_ENST00000353930.1_Silent_p.L523L NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 559 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GCTCCTCGCAGAGCCTCTGCA 0.617000 44 68 0 0 0.139131 0 0 HDAC9 9734 broad.mit.edu 37 7 18625006 18625006 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:18625006G>A ENST00000406451.3 + 3 275 c.125G>A c.(124-126)cGt>cAt p.R42H HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000476135.1_3'UTR NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 42 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) CCTGTTGTCCGTGAGAAGCAA 0.493000 48 87 0 0 0.139131 0 0 SNHG14 104472715 broad.mit.edu 37 15 25444646 25444646 + RNA SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr15:25444646A>T ENST00000424208.1 + 0 1811 SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 ATGACTTAAAAATCATGCTCA 0.478000 7 348 0 0 0.047766 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217266 26217266 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr6:26217266G>A ENST00000303910.2 + 1 102 c.64G>A c.(64-66)Gcc>Acc p.A22T NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 22 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) TTCTTCCAGGGCCGGTCTTCA 0.577000 22 12 0 0 0.055883 0 0 THEM5 284486 broad.mit.edu 37 1 151820766 151820766 + Missense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:151820766A>C ENST00000368817.5 - 4 598 c.467T>G c.(466-468)tTt>tGt p.F156C AL450992.2_ENST00000434182.1_RNA NM_182578.3 NP_872384.1 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 156 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCCGTGAGCAAACCTGGGGGT 0.602000 13 26 0 0 0.083992 0 0 PADI4 23569 broad.mit.edu 37 1 17668883 17668883 + Silent SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:17668883G>A ENST00000375448.4 + 8 947 c.921G>A c.(919-921)gaG>gaA p.E307E AC004824.2_ENST00000602074.1_Intron NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 307 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCCCGCAGGAGGTGTACGCGT 0.632000 15 7 0 0 0.146539 0 0 TTC39C 125488 broad.mit.edu 37 18 21703803 21703803 + Nonsense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr18:21703803C>T ENST00000540918.2 + 4 521 c.271C>T c.(271-273)Cag>Tag p.Q91* TTC39C_ENST00000317571.3_Nonsense_Mutation_p.Q398*|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.Q337* Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 398 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 TACAGTTTGTCAGGGAGCCAC 0.368000 12 22 0 0 0.105934 0 0 OR4C6 219432 broad.mit.edu 37 11 55432771 55432771 + Silent SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:55432771T>C ENST00000314259.3 + 1 158 c.129T>C c.(127-129)atT>atC p.I43I NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 ATCTACTTATTGTGGTAACTA 0.408000 82 66 0 0 0.139131 0 0 TOP3B 8940 broad.mit.edu 37 22 22318364 22318364 + Missense_Mutation SNP G G A rs143308485 byFrequency TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr22:22318364G>A ENST00000398793.2 - 11 1569 c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W TOP3B_ENST00000413067.2_Missense_Mutation_p.R108W|TOP3B_ENST00000357179.5_Missense_Mutation_p.R379W NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 379 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) TGGCCTTTCCGCGGGCGGTTG 0.607000 49 10 0 0 0.139131 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857639 101857639 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chrX:101857639A>T ENST00000604957.1 + 1 3192 c.570A>T c.(568-570)gaA>gaT p.E190D ARMCX5_ENST00000536530.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000541409.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000537008.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000372742.1_Missense_Mutation_p.E190D|RP4-769N13.6_ENST00000476910.1_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.E190D NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 190 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 GGCCTGAAGAAGAGACCTCTC 0.448000 74 12 0 0 0.139131 0 0 ASNS 440 broad.mit.edu 37 7 97488686 97488686 + Missense_Mutation SNP G G A rs138299423 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:97488686G>A ENST00000175506.4 - 6 1040 c.512C>T c.(511-513)gCg>gTg p.A171V ASNS_ENST00000437628.1_Missense_Mutation_p.A88V|ASNS_ENST00000394309.3_Missense_Mutation_p.A171V|ASNS_ENST00000455086.1_Missense_Mutation_p.A88V|ASNS_ENST00000394308.3_Missense_Mutation_p.A171V|ASNS_ENST00000444334.1_Missense_Mutation_p.A150V|ASNS_ENST00000422745.1_Missense_Mutation_p.A150V NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 171 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AAAGGGAGTCGCGGAGTGCTT 0.368000 39 63 0 0 0.080422 0 0 VPS13D 55187 broad.mit.edu 37 1 12304644 12304644 + Silent SNP C C A rs34489138 byFrequency TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:12304644C>A ENST00000358136.3 + 5 547 c.417C>A c.(415-417)tcC>tcA p.S139S VPS13D_ENST00000356315.4_Silent_p.S139S NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 139 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTACCGCCTCCGTAGTTACAA 0.413000 35 19 2.32173e-10 2.6592e-10 0.074837 1 0 PROK1 84432 broad.mit.edu 37 1 110996644 110996644 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:110996644G>A ENST00000271331.3 + 2 151 c.134G>A c.(133-135)cGa>cAa p.R45Q NM_032414.2 NP_115790.1 P58294 PROK1_HUMAN prokineticin 1 45 angiogenesis|positive regulation of cell division extracellular region growth factor activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135) CTGTGGCTTCGAGGGCTGCGG 0.622000 24 14 0 0 0.083992 0 0 ISLR2 57611 broad.mit.edu 37 15 74425610 74425610 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr15:74425610C>A ENST00000361742.3 + 4 1284 c.515C>A c.(514-516)gCg>gAg p.A172E ISLR2_ENST00000565159.1_Missense_Mutation_p.A172E|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172E|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172E|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172E|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172E|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172E|ISLR2_ENST00000561975.1_Intron NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 172 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 GCGCTTAGCGCGCTGTCACAC 0.667000 81 10 1.15773e-35 1.53069e-35 0.139131 1 0 PPP2R5C 5527 broad.mit.edu 37 14 102391561 102391561 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr14:102391561G>C ENST00000422945.2 + 16 1716 c.1620G>C c.(1618-1620)ttG>ttC p.L540F PPP2R5C_ENST00000350249.3_Missense_Mutation_p.L470F|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.L509F|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.L525F NM_001161725.1 NP_001155197.1 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 509 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AGAAAGCCTTGGAAGCTCACT 0.637000 64 27 0 0 0.139131 0 0 ACBD3 64746 broad.mit.edu 37 1 226340302 226340302 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:226340302G>C ENST00000366812.5 - 7 1163 c.1109C>G c.(1108-1110)gCa>gGa p.A370G RP11-275I14.4_ENST00000440540.1_RNA NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 370 steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) GGATGGAGCTGCTATTACTGG 0.448000 76 139 0 0 0.139131 0 0 HECW1 23072 broad.mit.edu 37 7 43503399 43503399 + Splice_Site SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:43503399G>A ENST00000395891.1 + 14 3396 c.e14+1 HECW1_ENST00000453890.1_Splice_Site NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 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 TCCAGCTTAGGTATTGGAGGA 0.602000 61 82 0 0 0.139131 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128796153 128796153 + Silent SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr5:128796153C>T ENST00000274487.4 + 1 196 c.51C>T c.(49-51)ttC>ttT p.F17F ADAMTS19-AS1_ENST00000502827.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 17 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AGCTGGGGTTCCTGTCGAATG 0.622000 56 19 0 0 0.139131 0 0 PON3 5446 broad.mit.edu 37 7 94996800 94996800 + Splice_Site SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:94996800T>C ENST00000265627.5 - 5 378 c.367_splice c.e5-1 p.D123_splice PON3_ENST00000427422.1_Splice_Site_p.D123_splice|PON1_ENST00000542556.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) CACAGTATTGTCTACATGGAA 0.338000 85 63 0 0 0.139131 0 0 CTC1 80169 broad.mit.edu 37 17 8138161 8138161 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:8138161G>A ENST00000315684.8 - 9 1530 c.1523C>T c.(1522-1524)gCt>gTt p.A508V NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 508 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 CAGGGTAGGAGCCAGGAGTTG 0.567000 51 84 0 0 0.139131 0 0 NEURL2 140825 broad.mit.edu 37 20 44519288 44519288 + Missense_Mutation SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr20:44519288T>C ENST00000372518.4 - 1 638 c.343A>G c.(343-345)Atc>Gtc p.I115V NM_001278535.1|NM_080749.2 NP_001265464.1|NP_542787.1 Q9BR09 NEUL2_HUMAN neuralized E3 ubiquitin protein ligase 2 115 NHR. intracellular signal transduction large_intestine(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) TGGCGCGTGATGGCGAAGACC 0.706000 46 9 0 0 0.139131 0 0 ARMC4 55130 broad.mit.edu 37 10 28270429 28270429 + Missense_Mutation SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr10:28270429T>C ENST00000305242.5 - 7 994 c.902A>G c.(901-903)aAa>aGa p.K301R ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K158R|ARMC4_ENST00000537576.1_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 301 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TTTTGGTGATTTTTCTCTTAA 0.294000 42 9 0 0 0.092188 0 0 GIT2 9815 broad.mit.edu 37 12 110427583 110427583 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr12:110427583C>T ENST00000360185.4 - 3 375 c.211G>A c.(211-213)Ggt>Agt p.G71S GIT2_ENST00000553118.1_Missense_Mutation_p.G71S|GIT2_ENST00000547815.1_Missense_Mutation_p.G71S|GIT2_ENST00000355312.3_Missense_Mutation_p.G71S|GIT2_ENST00000457474.2_Missense_Mutation_p.G71S|GIT2_ENST00000551209.1_Missense_Mutation_p.G71S|GIT2_ENST00000338373.5_Missense_Mutation_p.G71S|GIT2_ENST00000361006.5_Missense_Mutation_p.G71S|GIT2_ENST00000354574.4_Missense_Mutation_p.G71S|GIT2_ENST00000343646.5_Missense_Mutation_p.G71S|GIT2_ENST00000320063.9_Missense_Mutation_p.G71S|GIT2_ENST00000356259.4_Missense_Mutation_p.G71S Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 71 Arf-GAP. regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 GAGTTAGCACCGTTATTATAC 0.398000 20 47 0 0 0.069288 0 0 ATP2A3 489 broad.mit.edu 37 17 3854894 3854894 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:3854894G>A ENST00000309890.7 - 4 455 c.305C>T c.(304-306)gCc>gTc p.A102V ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A102V NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 102 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GCCCACAATGGCGTTGGCCAC 0.687000 10 12 0 0 0.058154 0 0 TMEM255A 55026 broad.mit.edu 37 X 119421060 119421060 + Nonsense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chrX:119421060G>T ENST00000371369.4 - 5 598 c.372C>A c.(370-372)taC>taA p.Y124* TMEM255A_ENST00000440464.1_Nonsense_Mutation_p.Y124*|TMEM255A_ENST00000309720.5_Nonsense_Mutation_p.Y124* NM_001104544.1 NP_001098014.1 transmembrane protein 255A ACCGGTTAGCGTAGAGTGGTT 0.448000 6 173 2.7689e-08 3.09928e-08 0.029380 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102292953 102292953 + RNA SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr15:102292953T>C ENST00000561463.1 + 0 999 GGCACAGCGGTGCGACGAGAT 0.587000 5 18 0 0 0.047766 0 0 PLD1 5337 broad.mit.edu 37 3 171431702 171431702 + Nonsense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr3:171431702G>A ENST00000356327.5 - 9 962 c.892C>T c.(892-894)Cga>Tga p.R298* PLD1_ENST00000340989.4_Nonsense_Mutation_p.R298*|PLD1_ENST00000351298.4_Nonsense_Mutation_p.R298*|PLD1_ENST00000342215.6_Nonsense_Mutation_p.R298* NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 298 PH. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TTATCAATTCGGATTCCATAT 0.338000 86 9 0 0 0.139131 0 0 NRAP 4892 broad.mit.edu 37 10 115384664 115384664 + Missense_Mutation SNP T T A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr10:115384664T>A ENST00000369358.4 - 22 2538 c.2294A>T c.(2293-2295)cAg>cTg p.Q765L NRAP_ENST00000359988.3_Missense_Mutation_p.Q757L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q730L|NRAP_ENST00000360478.3_Missense_Mutation_p.Q722L Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 757 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ATGGACAGACTGCTCATTTCC 0.567000 39 12 0 0 0.086207 0 0 SRGAP1 57522 broad.mit.edu 37 12 64505580 64505580 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr12:64505580A>G ENST00000355086.3 + 17 2482 c.1958A>G c.(1957-1959)tAt>tGt p.Y653C RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Y630C|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Y590C NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 653 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) ATGGACCCTTATAACCTGGCC 0.378000 21 55 0 0 0.076483 0 0 KLF14 136259 broad.mit.edu 37 7 130418557 130418557 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:130418557C>T ENST00000310992.4 - 1 331 c.304G>A c.(304-306)Gag>Aag p.E102K NM_138693.2 NP_619638.1 Q8TD94 KLF14_HUMAN Kruppel-like factor 14 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(18;0.0435) CCCGAGTTCTCCCAGGAGCCC 0.771000 4 5 0 0 0.021553 0 0 LTBP1 4052 broad.mit.edu 37 2 33482371 33482371 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr2:33482371C>A ENST00000404816.2 + 12 2541 c.2188C>A c.(2188-2190)Cct>Act p.P730T LTBP1_ENST00000418533.2_Missense_Mutation_p.P404T|LTBP1_ENST00000390003.4_Missense_Mutation_p.P404T|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000407925.1_Missense_Mutation_p.P404T|LTBP1_ENST00000354476.3_Missense_Mutation_p.P730T Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 730 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGAAATCTGTCCTGGTGGAAT 0.393000 29 39 5.97227e-30 7.74037e-30 0.045705 1 0 PIK3C2A 5286 broad.mit.edu 37 11 17139063 17139063 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:17139063C>T ENST00000265970.7 - 18 3190 c.3191G>A c.(3190-3192)aGg>aAg p.R1064K PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R684K|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1064 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) ACTAGCCTGCCTTACTTTTTC 0.393000 51 13 0 0 0.139131 0 0 SPANXD 64648 broad.mit.edu 37 X 140785697 140785697 + Silent SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chrX:140785697T>C ENST00000370515.3 - 2 552 c.219A>G c.(217-219)cgA>cgG p.R73R NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TTCTGTTCTTTCGGGCGTGGT 0.433000 178 49 0 0 0.139131 0 0 SRSF2 6427 broad.mit.edu 37 17 74732524 74732524 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:74732524G>C ENST00000392485.2 - 2 557 c.385C>G c.(385-387)Cga>Gga p.R129G MFSD11_ENST00000586622.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117G|SRSF2_ENST00000359995.5_Missense_Mutation_p.R129G NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 129 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity p.R129*(1)|p.R109*(1) haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 CTCCGGGATCGGCTGCGGCGA 0.711000 Mis """MDS, CLL""" 12 85 0 0 0.093190 0 0 APCDD1L 164284 broad.mit.edu 37 20 57045686 57045686 + Missense_Mutation SNP T T G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr20:57045686T>G ENST00000371149.3 - 2 397 c.167A>C c.(166-168)aAt>aCt p.N56T APCDD1L_ENST00000439429.1_Missense_Mutation_p.N67T NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 56 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) CCAAGGTCCATTAAGGCGTGG 0.617000 7 10 0 0 0.038147 0 0 AFF3 3899 broad.mit.edu 37 2 100368683 100368683 + Splice_Site SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr2:100368683C>A ENST00000317233.4 - 8 1237 c.1002_splice c.e8+1 p.K334_splice AFF3_ENST00000356421.2_Splice_Site_p.K359_splice|AFF3_ENST00000409579.1_Splice_Site_p.K359_splice|AFF3_ENST00000409236.1_Splice_Site_p.K334_splice NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 334 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AAGATCTCACCTTATTTGGAA 0.443000 20 44 8.10497e-08 9.02079e-08 0.055883 1 0 DHRS4L2 317749 broad.mit.edu 37 14 24464313 24464313 + Missense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr14:24464313A>C ENST00000335125.6 + 3 505 c.379A>C c.(379-381)Atg>Ctg p.M127L DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.M125L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.M26L|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.M127L NM_198083.3 NP_932349.2 D5KJA1 D5KJA1_HUMAN dehydrogenase/reductase (SDR family) member 4 like 2 74 binding|oxidoreductase activity breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 10 GBM - Glioblastoma multiforme(265;0.00962) TGGAAGCCTAATGGATGTCAC 0.522000 9 686 0 0 0.069234 0 0 TECRL 253017 broad.mit.edu 37 4 65274963 65274963 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr4:65274963A>G ENST00000381210.3 - 1 217 c.107T>C c.(106-108)tTg>tCg p.L36S TECRL_ENST00000507440.1_Missense_Mutation_p.L36S NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 36 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AAGTTTTGACAAAAAGTGAAA 0.413000 12 40 0 0 0.105934 0 0 EBF3 253738 broad.mit.edu 37 10 131640476 131640476 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr10:131640476C>A ENST00000368648.3 - 13 1321 c.1249G>T c.(1249-1251)Ggc>Tgc p.G417C EBF3_ENST00000355311.5_Missense_Mutation_p.G426C NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 426 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GGGTTGTTGCCCAGGGTGGGG 0.597000 64 41 1.42676e-28 1.83707e-28 0.139131 1 0 ZNF347 84671 broad.mit.edu 37 19 53644453 53644453 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:53644453C>T ENST00000452676.2 - 5 2057 c.1631G>A c.(1630-1632)tGt>tAt p.C544Y ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C544Y|ZNF347_ENST00000334197.7_Missense_Mutation_p.C543Y NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GCACTCATTACACATATAAGG 0.398000 60 51 0 0 0.139131 0 0 ZNF85 7639 broad.mit.edu 37 19 21132175 21132175 + Silent SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:21132175C>A ENST00000601023.1 + 2 1324 c.678C>A c.(676-678)ccC>ccA p.P226P ZNF85_ENST00000345030.6_Silent_p.P252P|ZNF85_ENST00000328178.8_Silent_p.P285P Q03923 ZNF85_HUMAN zinc finger protein 85 285 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 GAGAGAAACCCTACAAATGTA 0.353000 13 15 0.00185496 0.00195415 0.105934 1 0 PKP4 8502 broad.mit.edu 37 2 159519912 159519912 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr2:159519912A>T ENST00000389757.3 + 15 2657 c.2532A>T c.(2530-2532)gaA>gaT p.E844D PKP4_ENST00000389759.3_Missense_Mutation_p.E844D|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 844 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CCACCTTGGAAGGCTCTGCAG 0.493000 HNSCC(62;0.18) 34 54 0 0 0.059317 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20368478 20368478 + RNA SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:20368478C>T ENST00000593655.1 - 0 199 AACGGCAGGGCGGCAGCGGCT 0.453000 11 10 0 0 0.069234 0 0 RIMBP2 23504 broad.mit.edu 37 12 130892304 130892304 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr12:130892304G>T ENST00000261655.4 - 16 3055 c.2892C>A c.(2890-2892)gaC>gaA p.D964E NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 964 SH3 3. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TTTCTCTGGGGTCGTAGTCAT 0.552000 109 218 4.95557e-46 6.59627e-46 0.139131 1 0 OR8I2 120586 broad.mit.edu 37 11 55861497 55861497 + Silent SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:55861497C>A ENST00000302124.2 + 1 745 c.714C>A c.(712-714)tcC>tcA p.S238S OR8I2_ENST00000560768.1_3'UTR Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) AGGCCTTCTCCACCTGCGCAT 0.493000 62 66 4.60343e-24 5.8888e-24 0.139131 1 0 RALGAPA1 253959 broad.mit.edu 37 14 36207835 36207835 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr14:36207835C>T ENST00000258840.6 - 12 1861 c.1471G>A c.(1471-1473)Gat>Aat p.D491N RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D491N|RALGAPA1_ENST00000554704.1_5'UTR Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 491 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CGAACATGATCAGCAGTATTG 0.388000 5 133 0 0 0.014758 0 0 EPHB6 2051 broad.mit.edu 37 7 142568363 142568363 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:142568363G>T ENST00000392957.2 + 19 3669 c.2882G>T c.(2881-2883)gGa>gTa p.G961V EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.G961V|EPHB6_ENST00000411471.2_Missense_Mutation_p.G684V NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 961 SAM. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TCAGCCATTGGACTGGAGTGC 0.597000 36 127 9.17885e-22 1.13015e-21 0.059317 1 0 OR8J3 81168 broad.mit.edu 37 11 55904545 55904545 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr11:55904545G>T ENST00000301529.1 - 1 649 c.650C>A c.(649-651)tCt>tAt p.S217Y NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) ATTGAAATAAGATACTAGAAC 0.363000 26 42 2.41591e-17 2.86707e-17 0.099896 1 0 PLEKHM2 23207 broad.mit.edu 37 1 16058487 16058487 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:16058487A>G ENST00000375799.3 + 17 2796 c.2569A>G c.(2569-2571)Agc>Ggc p.S857G PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S837G|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 857 Interaction with sifA.|PH. Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AAGTGCCGAGAGCGAGGCCGA 0.667000 10 8 0 0 0.069234 0 0 TMEM132E 124842 broad.mit.edu 37 17 32963160 32963160 + Missense_Mutation SNP C C G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:32963160C>G ENST00000321639.5 + 9 2170 c.1842C>G c.(1840-1842)agC>agG p.S614R NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 614 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GCCCTGGGAGCAGCCACACCA 0.632000 7 20 0 0 0.029380 0 0 TRHR 7201 broad.mit.edu 37 8 110099852 110099852 + Silent SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr8:110099852C>A ENST00000518632.1 + 2 462 c.111C>A c.(109-111)ggC>ggA p.G37G TRHR_ENST00000311762.2_Silent_p.G37G P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 37 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TTATTTGTGGCCTGGGCATTG 0.507000 38 53 3.21399e-22 4.00732e-22 0.074837 1 0 SERPINE1 5054 broad.mit.edu 37 7 100771855 100771855 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:100771855G>A ENST00000223095.4 + 2 338 c.181G>A c.(181-183)Ggg>Agg p.G61R SERPINE1_ENST00000445463.2_Missense_Mutation_p.G46R NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 61 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) CTCACCCTATGGGGTGGCCTC 0.592000 37 37 0 0 0.069456 0 0 EP400 57634 broad.mit.edu 37 12 132491260 132491260 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr12:132491260C>T ENST00000333577.4 + 16 3359 c.3250C>T c.(3250-3252)Cca>Tca p.P1084S EP400_ENST00000389562.2_Missense_Mutation_p.P1047S|EP400_ENST00000389561.2_Missense_Mutation_p.P1048S|EP400_ENST00000330386.6_Missense_Mutation_p.P1048S|EP400_ENST00000332482.4_Missense_Mutation_p.P1011S Q96L91 EP400_HUMAN E1A binding protein p400 1084 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GTTTAATGCTCCATCTTTGTT 0.398000 20 21 0 0 0.055883 0 0 IGKV1OR2-118 339562 broad.mit.edu 37 2 90458669 90458669 + Missense_Mutation SNP T T A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr2:90458669T>A ENST00000603238.1 + 2 345 c.345T>A c.(343-345)ccT>ccA p.115_115insP ACAGTACCCCTCCCACAGCGT 0.517000 33 610 0 0 0.059317 0 0 PLXNA2 5362 broad.mit.edu 37 1 208216455 208216455 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:208216455C>T ENST00000367033.3 - 21 4725 c.3968G>A c.(3967-3969)cGa>cAa p.R1323Q NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1323 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GAACAGGACTCGCATAGCGTA 0.607000 29 32 0 0 0.134883 0 0 FLNC 2318 broad.mit.edu 37 7 128488731 128488731 + Missense_Mutation SNP C C G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr7:128488731C>G ENST00000325888.8 + 27 4958 c.4697C>G c.(4696-4698)gCa>gGa p.A1566G FLNC_ENST00000346177.6_Missense_Mutation_p.A1566G NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1566 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACCATCGACGCACGGGACGCG 0.662000 41 133 0 0 0.139131 0 0 ADCK4 79934 broad.mit.edu 37 19 41206235 41206235 + Missense_Mutation SNP T T G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:41206235T>G ENST00000324464.3 - 11 1316 c.1015A>C c.(1015-1017)Agc>Cgc p.S339R ADCK4_ENST00000243583.6_Missense_Mutation_p.S298R|ADCK4_ENST00000450541.1_Missense_Mutation_p.S298R NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 339 Protein kinase. integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) AGGTCCTGGCTTAGGCCCTGG 0.672000 17 47 0 0 0.146539 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412359 139412359 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr9:139412359C>T ENST00000277541.6 - 8 1361 c.1286G>A c.(1285-1287)tGc>tAc p.C429Y NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 429 EGF-like 11; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGTGTTGATGCACTTGCCCGC 0.662000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 38 37 0 0 0.086207 0 0 ANKRD17 26057 broad.mit.edu 37 4 73984419 73984419 + Missense_Mutation SNP C C G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr4:73984419C>G ENST00000358602.4 - 22 4290 c.4174G>C c.(4174-4176)Gca>Cca p.A1392P ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1279P|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1141P NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1392 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTAAATGCTGCCATAAGAGGA 0.423000 47 19 0 0 0.139131 0 0 NRCAM 4897 broad.mit.edu 37 7 107831704 107831704 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:107831704C>T ENST00000379028.3 - 19 2397 c.1927G>A c.(1927-1929)Gtt>Att p.V643I NRCAM_ENST00000413765.2_Missense_Mutation_p.V624I|NRCAM_ENST00000379022.4_Missense_Mutation_p.V643I|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.V643I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V624I Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 643 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TTACCGTAAACGGGAGCTGGA 0.318000 9 15 0 0 0.093190 0 0 MUC4 4585 broad.mit.edu 37 3 195515449 195515449 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr3:195515449A>T ENST00000463781.3 - 2 3461 c.3002T>A c.(3001-3003)gTa>gAa p.V1001E MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1006 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.V1001A(1)|p.V1001E(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATACTGAGGAAGC 0.587000 6 16 0 0 0.029380 0 0 RYR1 6261 broad.mit.edu 37 19 39013683 39013683 + Silent SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:39013683G>A ENST00000355481.4 + 68 10406 c.10275G>A c.(10273-10275)acG>acA p.T3425T RYR1_ENST00000359596.3_Silent_p.T3425T|RYR1_ENST00000360985.3_Silent_p.T3425T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3425 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGTGGCTGACGGAGCCGAATC 0.662000 12 8 0 0 0.080935 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89104958 89104958 + RNA SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr2:89104958A>G ENST00000393525.3 + 0 4898 AATTCAAATCATTGATTTCTG 0.289000 2 3 0 0 0.009096 0 0 CABS1 85438 broad.mit.edu 37 4 71201892 71201892 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr4:71201892A>T ENST00000273936.4 + 1 1195 c.1136A>T c.(1135-1137)gAa>gTa p.E379V NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 379 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TCCACAACTGAAACGGATATC 0.398000 29 12 0 0 0.125774 0 0 SPATA17 128153 broad.mit.edu 37 1 217955658 217955658 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:217955658A>G ENST00000366933.4 + 8 921 c.866A>G c.(865-867)gAc>gGc p.D289G RP11-415L24.1_ENST00000415765.1_RNA NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 289 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AATGTAAATGACAATATGTGA 0.363000 15 27 0 0 0.033300 0 0 CD300E 342510 broad.mit.edu 37 17 72613588 72613588 + Silent SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:72613588C>T ENST00000392619.1 - 2 173 c.138G>A c.(136-138)aaG>aaA p.K46K CD300E_ENST00000426295.2_Silent_p.K60K|CD300E_ENST00000328630.3_Silent_p.K19K NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 19 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 AGCCGGGGCCCTTCAGAGACA 0.552000 25 18 0 0 0.091800 0 0 TMEM132E 124842 broad.mit.edu 37 17 32963160 32963160 + Missense_Mutation SNP C C G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:32963160C>G ENST00000321639.5 + 9 2170 c.1842C>G c.(1840-1842)agC>agG p.S614R NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 614 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GCCCTGGGAGCAGCCACACCA 0.632000 7 20 0 0 0.029380 0 0 ITGB1 3688 broad.mit.edu 37 10 33199209 33199209 + Nonsense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr10:33199209A>C ENST00000396033.2 - 14 2241 c.2106T>G c.(2104-2106)taT>taG p.Y702* ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Y702* NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 702 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) AATACGTAAAATAGAACCAAC 0.433000 17 8 0 0 0.049695 0 0 CCDC89 220388 broad.mit.edu 37 11 85396180 85396180 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr11:85396180G>A ENST00000316398.3 - 1 1140 c.994C>T c.(994-996)Cgc>Tgc p.R332C NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 332 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TCTACTTTGCGCTGAAGCTCC 0.498000 23 71 0 0 0.076483 0 0 ZNF440 126070 broad.mit.edu 37 19 11943141 11943141 + Nonsense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:11943141C>T ENST00000304060.5 + 4 1314 c.1150C>T c.(1150-1152)Cga>Tga p.R384* NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CAGTTCCCTTCGATATCATGA 0.433000 27 22 0 0 0.091800 0 0 KCNV1 27012 broad.mit.edu 37 8 110980617 110980617 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr8:110980617G>T ENST00000524391.1 - 4 2235 c.1203C>A c.(1201-1203)gaC>gaA p.D401E KCNV1_ENST00000297404.1_Missense_Mutation_p.D401E Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 401 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CTGTGGTGGTGTCTGGTCTAA 0.478000 43 73 4.67007e-22 5.95989e-22 0.104719 1 0 TMEM147 10430 broad.mit.edu 37 19 36037859 36037859 + Silent SNP A A G rs35486099 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:36037859A>G ENST00000392204.2 + 4 538 c.210A>G c.(208-210)ctA>ctG p.L70L TMEM147_ENST00000222284.5_Silent_p.L119L|TMEM147_ENST00000392205.1_Silent_p.L119L NM_001242597.1 NP_001229526.1 Q9BVK8 TM147_HUMAN transmembrane protein 147 119 endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCATTCCCCTATGGGTCGGAG 0.562000 55 57 0 0 0.139131 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:7578271T>C ENST00000420246.2 - 6 710 c.578A>G c.(577-579)cAt>cGt p.H193R TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGGATAAGATGCTGAGGAGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 8 0 0 0.092188 0 0 OR8B4 283162 broad.mit.edu 37 11 124294456 124294456 + Missense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr11:124294456A>C ENST00000356130.3 - 1 333 c.312T>G c.(310-312)tgT>tgG p.C104W NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGACAAAGAAACAGAAGAAAA 0.423000 16 51 0 0 0.038395 0 0 NLRP6 171389 broad.mit.edu 37 11 284488 284488 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr11:284488G>A ENST00000534750.1 + 7 2588 c.2383G>A c.(2383-2385)Gac>Aac p.D795N NLRP6_ENST00000312165.5_Missense_Mutation_p.D796N NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 796 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) ACAGCTGCCTGACCCCCAGCG 0.697000 18 7 0 0 0.055883 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20368478 20368478 + RNA SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:20368478C>T ENST00000593655.1 - 0 199 AACGGCAGGGCGGCAGCGGCT 0.453000 11 10 0 0 0.069234 0 0 ZNF687 57592 broad.mit.edu 37 1 151259689 151259689 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:151259689G>T ENST00000368879.2 + 2 1020 c.922G>T c.(922-924)Ggg>Tgg p.G308W NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCCCTCTAGTGGGGCCGAGGC 0.572000 29 42 4.87955e-14 5.83804e-14 0.108266 1 0 SERPINE1 5054 broad.mit.edu 37 7 100771855 100771855 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:100771855G>A ENST00000223095.4 + 2 338 c.181G>A c.(181-183)Ggg>Agg p.G61R SERPINE1_ENST00000445463.2_Missense_Mutation_p.G46R NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 61 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) CTCACCCTATGGGGTGGCCTC 0.592000 37 37 0 0 0.069456 0 0 ENTPD4 9583 broad.mit.edu 37 8 23243522 23243522 + Silent SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr8:23243522A>T ENST00000356206.6 - 13 1870 c.1635T>A c.(1633-1635)ggT>ggA p.G545G LOXL2_ENST00000389131.3_Intron Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 0 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) gCTTTGGacaaccccctgagc 0.463000 39 14 0 0 0.117977 0 0 C17orf75 64149 broad.mit.edu 37 17 30668273 30668273 + Silent SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:30668273G>A ENST00000577809.1 - 2 220 c.171C>T c.(169-171)gaC>gaT p.D57D RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.D57D NM_022344.3 NP_071739.2 Q9HAS0 NJMU_HUMAN chromosome 17 open reading frame 75 57 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TTGGGCTTCCGTCCTCACTGT 0.478000 93 148 0 0 0.139131 0 0 SLC6A5 9152 broad.mit.edu 37 11 20652257 20652257 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr11:20652257G>A ENST00000525748.1 + 10 1793 c.1520G>A c.(1519-1521)tGc>tAc p.C507Y SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 507 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) ATTGTCACCTGCACCAACAGT 0.493000 5 115 0 0 0.021553 0 0 CBLB 868 broad.mit.edu 37 3 105572471 105572471 + Missense_Mutation SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr3:105572471T>C ENST00000264122.4 - 3 527 c.206A>G c.(205-207)aAt>aGt p.N69S CBLB_ENST00000405772.1_Missense_Mutation_p.N69S|CBLB_ENST00000403724.1_Missense_Mutation_p.N69S|CBLB_ENST00000394027.3_Missense_Mutation_p.N91S|CBLB_ENST00000545639.1_Missense_Mutation_p.N91S NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 69 4H.|Cbl-PTB. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 TGGTGGGCTATTTTTCAACTG 0.289000 Mis S AML 58 6 0 0 0.139131 0 0 TMEM259 91304 broad.mit.edu 37 19 1011795 1011795 + Silent SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:1011795C>T ENST00000356663.3 - 7 1066 c.945G>A c.(943-945)acG>acA p.T315T TMEM259_ENST00000333175.5_Silent_p.T315T NM_001033026.1 NP_001028198.1 transmembrane protein 259 ACACGCTCAGCGTCTGCAAGG 0.711000 3 5 0 0 0.009096 0 0 TAF1C 9013 broad.mit.edu 37 16 84214963 84214963 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr16:84214963G>A ENST00000567759.1 - 10 1395 c.1213C>T c.(1213-1215)Cgc>Tgc p.R405C TAF1C_ENST00000378541.4_Missense_Mutation_p.R405C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R312C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R379C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R312C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R73C NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 405 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 ACTCCGGTGCGGTCACCCACG 0.667000 15 4 0 0 0.132662 0 0 HSPA6 3310 broad.mit.edu 37 1 161495385 161495385 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:161495385C>T ENST00000309758.4 + 1 1350 c.937C>T c.(937-939)Cgc>Tgc p.R313C NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 313 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGACCTCTTCCGCAGCACCCT 0.632000 5 30 0 0 0.021553 0 0 PALB2 79728 broad.mit.edu 37 16 23646401 23646401 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr16:23646401G>A ENST00000261584.4 - 4 1618 c.1466C>T c.(1465-1467)tCt>tTt p.S489F NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 489 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) CCCAGCGGGAGAGCTGACTTT 0.468000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 21 163 0 0 0.062417 0 0 APOH 350 broad.mit.edu 37 17 64224252 64224252 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:64224252G>C ENST00000205948.6 - 2 164 c.127C>G c.(127-129)Cca>Gca p.P43A NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 43 Sushi 1. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TCTTCTCCTGGCTCATAGAAT 0.483000 76 97 0 0 0.139131 0 0 ESPL1 9700 broad.mit.edu 37 12 53662897 53662897 + Nonsense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr12:53662897C>A ENST00000257934.4 + 3 262 c.171C>A c.(169-171)tgC>tgA p.C57* ESPL1_ENST00000552462.1_Nonsense_Mutation_p.C57* NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 57 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 TGAGGGCTTGCAACCAGCAGC 0.572000 40 31 1.96642e-18 2.43982e-18 0.092188 1 0 SRPK2 6733 broad.mit.edu 37 7 104787081 104787081 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:104787081G>T ENST00000357311.3 - 7 784 c.613C>A c.(613-615)Cac>Aac p.H205N SRPK2_ENST00000489828.1_Missense_Mutation_p.H205N|SRPK2_ENST00000393651.3_Missense_Mutation_p.H216N NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 205 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 CACTTACTGTGTAAGTAATCT 0.338000 10 37 3.03607e-14 3.66517e-14 0.093190 1 0 MYO1C 4641 broad.mit.edu 37 17 1386944 1386944 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:1386944G>A ENST00000359786.5 - 3 631 c.307C>T c.(307-309)Cgt>Tgt p.R103C MYO1C_ENST00000575158.1_Missense_Mutation_p.R68C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R68C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R79C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R84C NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 103 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCACGGTAACGCTCCATATGC 0.627000 6 13 0 0 0.029380 0 0 CLVS1 157807 broad.mit.edu 37 8 62289235 62289235 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr8:62289235A>G ENST00000519846.1 + 4 999 c.527A>G c.(526-528)cAg>cGg p.Q176R CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.Q176R Q8IUQ0 CLVS1_HUMAN clavesin 1 176 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCGGAGCTTCAGATAAATGGC 0.448000 3 82 0 0 0.115264 0 0 OR5H15 403274 broad.mit.edu 37 3 97888085 97888085 + Missense_Mutation SNP C C A rs62266800 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr3:97888085C>A ENST00000356526.2 + 1 542 c.542C>A c.(541-543)aCt>aAt p.T181N NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 TACTGTGACACTATCCCATTG 0.313000 24 4 1.04121e-07 1.20278e-07 0.108266 1 0 KRT32 3882 broad.mit.edu 37 17 39616390 39616390 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:39616390C>A ENST00000225899.3 - 7 1422 c.1319G>T c.(1318-1320)tGc>tTc p.C440F NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 440 Tail. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) GCAGGGTGAGCAAGGCATGCC 0.647000 15 22 0.000422831 0.000460646 0.146539 1 0 S1PR4 8698 broad.mit.edu 37 19 3179935 3179935 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:3179935G>A ENST00000246115.3 + 1 1200 c.1145G>A c.(1144-1146)cGg>cAg p.R382Q NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 382 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 TCCAGCGTGCGGAGCATCTGA 0.652000 50 55 0 0 0.139131 0 0 GRN 2896 broad.mit.edu 37 17 42429495 42429495 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:42429495C>T ENST00000053867.3 + 11 1354 c.1292C>T c.(1291-1293)gCc>gTc p.A431V GRN_ENST00000589265.1_Missense_Mutation_p.A274V NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 431 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) AAGATGCCTGCCCGCCGGGCT 0.667000 55 57 0 0 0.139131 0 0 UBE2M 9040 broad.mit.edu 37 19 59068277 59068277 + Silent SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:59068277C>T ENST00000253023.3 - 3 803 c.225G>A c.(223-225)aaG>aaA p.K75K NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 75 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TGAACACAAACTTCCCACTCT 0.567000 25 10 0 0 0.099896 0 0 OR2L2 26246 broad.mit.edu 37 1 248202502 248202502 + Missense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:248202502A>C ENST00000366479.2 + 1 1029 c.933A>C c.(931-933)aaA>aaC p.K311N OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCTCAGTGAAAATGTAGACAT 0.443000 7 69 0 0 0.038147 0 0 TTN 7273 broad.mit.edu 37 2 179581995 179581995 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr2:179581995C>A ENST00000589042.1 - 88 25690 c.25466G>T c.(25465-25467)tGg>tTg p.W8489L TTN_ENST00000342992.6_Missense_Mutation_p.W7245L|TTN_ENST00000591111.1_Missense_Mutation_p.W8172L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8172 Ig-like 67. 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) ATCTTTGGCCCAAGTGATTTT 0.428000 34 37 4.3181e-19 5.40771e-19 0.054565 1 0 KIF13A 63971 broad.mit.edu 37 6 17764996 17764996 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr6:17764996C>A ENST00000378814.5 - 37 4618 c.4619G>T c.(4618-4620)cGt>cTt p.R1540L KIF13A_ENST00000259711.6_Missense_Mutation_p.R1588L|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1553L|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1540L|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1553L NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1588 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GGTAGGGCTACGGGACACTTC 0.502000 11 6 3.86212e-05 4.27706e-05 0.069234 1 0 CACNA1G 8913 broad.mit.edu 37 17 48699024 48699024 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:48699024C>A ENST00000354983.4 + 33 6199 c.5827C>A c.(5827-5829)Cct>Act p.P1943T CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1977T|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1966T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1906T|CACNA1G_ENST00000358244.5_Intron NM_198396.2 NP_938406.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1977 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGTCTAGATCCCTCTAGCTGA 0.562000 13 28 9.31168e-06 1.0398e-05 0.105934 1 0 DOCK6 57572 broad.mit.edu 37 19 11323947 11323947 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:11323947G>A ENST00000294618.7 - 35 4407 c.4396C>T c.(4396-4398)Ctc>Ttc p.L1466F DOCK6_ENST00000319867.7_Missense_Mutation_p.L805F|CTC-510F12.2_ENST00000588634.1_RNA NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1466 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 TGTCGTAGGAGCCTCAGGCAC 0.652000 12 30 0 0 0.080935 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr9:21971029C>T ENST00000304494.5 - 2 599 c.329G>A c.(328-330)tGg>tAg p.W110* CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 43 5 0 0 0.104719 0 0 TNRC18 84629 broad.mit.edu 37 7 5391493 5391493 + Silent SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:5391493C>T ENST00000399537.4 - 17 5775 c.5427G>A c.(5425-5427)gcG>gcA p.A1809A TNRC18_ENST00000430969.1_Silent_p.A1809A O15417 TNC18_HUMAN trinucleotide repeat containing 18 1809 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) AGGAGGAACGCGCCTCGGCCT 0.592000 15 12 0 0 0.146539 0 0 KSR1 8844 broad.mit.edu 37 17 25783823 25783823 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:25783823A>T ENST00000319524.6 + 1 154 c.154A>T c.(154-156)Atc>Ttc p.I52F KSR1_ENST00000509603.2_Missense_Mutation_p.I52F Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 50 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CGACATCTCCATCGGCAGCCT 0.716000 29 32 0 0 0.059317 0 0 TMPO 7112 broad.mit.edu 37 12 98931317 98931317 + Silent SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr12:98931317A>T ENST00000556029.1 + 4 986 c.630A>T c.(628-630)gtA>gtT p.V210V TMPO_ENST00000393053.2_Silent_p.V210V|TMPO_ENST00000261210.5_Silent_p.V210V|TMPO_ENST00000343315.5_Silent_p.V210V NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin 210 NAKAP95-binding N.|Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGACTCCAGTAACACTCAAGC 0.388000 7 14 0 0 0.029380 0 0 KIAA1958 158405 broad.mit.edu 37 9 115407987 115407987 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr9:115407987A>G ENST00000337530.6 + 3 1525 c.1229A>G c.(1228-1230)gAt>gGt p.D410G KIAA1958_ENST00000536272.1_Missense_Mutation_p.D438G NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 410 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 GACTTGAATGATCTGTGTACC 0.383000 16 40 0 0 0.038395 0 0 BCAP29 55973 broad.mit.edu 37 7 107234422 107234422 + Silent SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:107234422A>G ENST00000379119.2 + 3 230 c.216A>G c.(214-216)aaA>aaG p.K72K BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000005259.4_Silent_p.K72K|BCAP29_ENST00000379117.2_Silent_p.K72K|BCAP29_ENST00000445771.2_Silent_p.K72K|BCAP29_ENST00000494086.1_3'UTR NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 72 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 AAGTAAGGAAATATTCCTCAG 0.353000 49 33 0 0 0.139131 0 0 VWA3A 146177 broad.mit.edu 37 16 22134933 22134933 + Splice_Site SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr16:22134933G>T ENST00000389397.4 + 16 1533 c.e16-1 VWA3A_ENST00000389398.5_Splice_Site A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CACTTCTGCAGCAACAGCTCA 0.572000 38 85 2.35968e-33 3.19392e-33 0.080422 1 0 HDGFRP2 84717 broad.mit.edu 37 19 4498321 4498321 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:4498321A>G ENST00000301284.4 + 12 1485 c.1421A>G c.(1420-1422)aAg>aGg p.K474R HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K474R NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 474 transcription, DNA-dependent nucleus DNA binding|protein binding GTGGAGGAGAAGCTGCAGAAG 0.647000 25 19 0 0 0.108266 0 0 LRP1B 53353 broad.mit.edu 37 2 141359067 141359067 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr2:141359067A>T ENST00000389484.3 - 42 7912 c.6941T>A c.(6940-6942)aTg>aAg p.M2314K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2314 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) ATCTTCTGACATGGTGATGAC 0.428000 TSP Lung(27;0.18) 13 36 0 0 0.119110 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055160 9055160 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr3:9055160C>A ENST00000383836.3 - 17 2406 c.1979G>T c.(1978-1980)gGg>gTg p.G660V SRGAP3_ENST00000360413.3_Missense_Mutation_p.G636V NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 660 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GAGGGTAGGCCCGAAGCAGAT 0.527000 T RAF1 pilocytic astrocytoma 8 36 5.18039e-06 5.88282e-06 0.038147 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 134 0 0 0.115264 0 0 PRRX1 5396 broad.mit.edu 37 1 170695536 170695536 + Missense_Mutation SNP C C G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:170695536C>G ENST00000239461.6 + 3 906 c.593C>G c.(592-594)cCg>cGg p.P198R PRRX1_ENST00000497230.2_Missense_Mutation_p.P198R|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_Missense_Mutation_p.P198R NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 198 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACAGCGTCTCCGTACAGGTGA 0.562000 25 37 0 0 0.116897 0 0 USP16 10600 broad.mit.edu 37 21 30419482 30419482 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr21:30419482C>A ENST00000334352.4 + 15 2082 c.1851C>A c.(1849-1851)ttC>ttA p.F617L USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 617 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 AAACTGCTTTCTGTACTCTTG 0.363000 62 13 9.4991e-31 1.27288e-30 0.139131 1 0 TNRC6B 23112 broad.mit.edu 37 22 40658079 40658079 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr22:40658079G>T ENST00000454349.2 + 4 570 c.359G>T c.(358-360)gGt>gTt p.G120V TNRC6B_ENST00000335727.8_Missense_Mutation_p.G120V|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G156V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G156V NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 120 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CTCCTTGGGGGTGGGGCAGGG 0.632000 8 1 0.00448238 0.00480511 0.047766 1 0 GIMAP6 474344 broad.mit.edu 37 7 150325295 150325295 + Nonsense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:150325295G>A ENST00000328902.5 - 3 607 c.391C>T c.(391-393)Caa>Taa p.Q131* GIMAP6_ENST00000493969.1_Missense_Mutation_p.T56I NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 131 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGGCCCAGTTGTGTCACCAGG 0.632000 17 89 0 0 0.033300 0 0 COL1A2 1278 broad.mit.edu 37 7 94038122 94038122 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:94038122C>A ENST00000297268.6 + 16 1250 c.779C>A c.(778-780)gCc>gAc p.A260D NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 260 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTCCCAGGTGCCCCTGGCCCC 0.433000 HNSCC(75;0.22) 7 63 1.26484e-09 1.4999e-09 0.038147 1 0 STXBP4 252983 broad.mit.edu 37 17 53120624 53120624 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:53120624G>A ENST00000376352.2 + 11 1090 c.883G>A c.(883-885)Gat>Aat p.D295N STXBP4_ENST00000398391.2_Missense_Mutation_p.D220N|STXBP4_ENST00000299341.4_Missense_Mutation_p.D220N|STXBP4_ENST00000434978.2_Missense_Mutation_p.D295N|STXBP4_ENST00000405898.1_Missense_Mutation_p.D295N NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 295 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 TTCAGAAGCAGATGAAATGGA 0.313000 5 9 0 0 0.014758 0 0 OR51A4 401666 broad.mit.edu 37 11 4967665 4967665 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr11:4967665G>C ENST00000380373.2 - 1 691 c.666C>G c.(664-666)atC>atG p.I222M MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 222 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) CAGTCTTGAGGATCAGGGTGT 0.433000 23 13 0 0 0.076483 0 0 MUC17 140453 broad.mit.edu 37 7 100676474 100676474 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:100676474A>G ENST00000306151.4 + 3 1841 c.1777A>G c.(1777-1779)Act>Gct p.T593A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 593 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACTTCAACAACTCCTGCTGA 0.478000 8 665 0 0 0.038147 0 0 PCF11 51585 broad.mit.edu 37 11 82881002 82881002 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr11:82881002C>A ENST00000298281.4 + 8 4077 c.3625C>A c.(3625-3627)Cca>Aca p.P1209T NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 1209 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TATACCTGCTCCAATGACAGT 0.348000 12 14 3.07112e-06 3.51735e-06 0.080935 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84582032 84582032 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr15:84582032C>A ENST00000286744.5 + 16 2113 c.1889C>A c.(1888-1890)gCc>gAc p.A630D ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A630D NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 630 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGAGCCCGGCCTCCCGAGAG 0.612000 58 14 6.60958e-23 8.59887e-23 0.139131 1 0 KIF21B 23046 broad.mit.edu 37 1 200967679 200967679 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:200967679G>A ENST00000332129.2 - 14 2226 c.1910C>T c.(1909-1911)gCc>gTc p.A637V KIF21B_ENST00000461742.2_Missense_Mutation_p.A637V|KIF21B_ENST00000422435.2_Missense_Mutation_p.A637V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A637V NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 637 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 AGTCAGGTCGGCCAGGTCCGC 0.587000 31 44 0 0 0.059317 0 0 HYAL4 23553 broad.mit.edu 37 7 123508362 123508362 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:123508362G>A ENST00000223026.4 + 3 673 c.35G>A c.(34-36)tGt>tAt p.C12Y HYAL4_ENST00000476325.1_Missense_Mutation_p.C12Y NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 12 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TTAAAGCTTTGTGTTGTTCAA 0.348000 42 75 0 0 0.111260 0 0 ADCY1 107 broad.mit.edu 37 7 45614734 45614734 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:45614734G>T ENST00000297323.7 + 1 614 c.592G>T c.(592-594)Gtc>Ttc p.V198F ADCY1_ENST00000432715.1_5'UTR NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 198 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GCACTTGCTGGTCACAGCCAC 0.642000 17 27 2.5808e-16 3.14388e-16 0.038395 1 0 LIG4 3981 broad.mit.edu 37 13 108861972 108861972 + Missense_Mutation SNP T T A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr13:108861972T>A ENST00000356922.4 - 2 1917 c.1645A>T c.(1645-1647)Att>Ttt p.I549F LIG4_ENST00000405925.1_Missense_Mutation_p.I549F|LIG4_ENST00000442234.1_Missense_Mutation_p.I549F NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 549 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CAAGGTTCAATGTATACTTCT 0.403000 Non-homologous end-joining 34 13 0 0 0.059317 0 0 BAGE2 85319 broad.mit.edu 37 21 11098870 11098870 + RNA SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr21:11098870C>A ENST00000470054.1 - 0 55 B melanoma antigen family, member 2 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) ccaactcccccttctcctggt 0.622000 11 14 5.50884e-06 6.20323e-06 0.093190 1 0 CDK13 8621 broad.mit.edu 37 7 40037230 40037230 + Missense_Mutation SNP C C G rs34775357 byFrequency TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:40037230C>G ENST00000181839.4 + 3 2614 c.2009C>G c.(2008-2010)aCa>aGa p.T670R CDK13_ENST00000340829.5_Missense_Mutation_p.T670R|CDK13_ENST00000484589.1_3'UTR NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 670 T -> R (in dbSNP:rs34775357). alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.T670R(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 GAAAAGAAAACAGCAACACAG 0.433000 3 123 0 0 0.115264 0 0 HDAC9 9734 broad.mit.edu 37 7 18625006 18625006 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:18625006G>A ENST00000406451.3 + 3 275 c.125G>A c.(124-126)cGt>cAt p.R42H HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 42 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) CCTGTTGTCCGTGAGAAGCAA 0.493000 48 87 0 0 0.139131 0 0 SNHG14 104472715 broad.mit.edu 37 15 25444646 25444646 + RNA SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr15:25444646A>T ENST00000424208.1 + 0 1811 SNHG14_ENST00000424333.1_RNA|SNORD115-16_ENST00000363887.1_RNA NR_003305.1 ATGACTTAAAAATCATGCTCA 0.478000 7 348 0 0 0.047766 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217266 26217266 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr6:26217266G>A ENST00000303910.2 + 1 102 c.64G>A c.(64-66)Gcc>Acc p.A22T NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 22 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) TTCTTCCAGGGCCGGTCTTCA 0.577000 22 12 0 0 0.055883 0 0 THEM5 284486 broad.mit.edu 37 1 151820766 151820766 + Missense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:151820766A>C ENST00000368817.5 - 4 598 c.467T>G c.(466-468)tTt>tGt p.F156C AL450992.2_ENST00000434182.1_RNA NM_182578.3 NP_872384.1 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 156 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCCGTGAGCAAACCTGGGGGT 0.602000 13 26 0 0 0.083992 0 0 PADI4 23569 broad.mit.edu 37 1 17668883 17668883 + Silent SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:17668883G>A ENST00000375448.4 + 8 947 c.921G>A c.(919-921)gaG>gaA p.E307E AC004824.2_ENST00000602074.1_Intron NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 307 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCCCGCAGGAGGTGTACGCGT 0.632000 15 7 0 0 0.146539 0 0 TTC39C 125488 broad.mit.edu 37 18 21703803 21703803 + Nonsense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr18:21703803C>T ENST00000540918.2 + 4 521 c.271C>T c.(271-273)Cag>Tag p.Q91* TTC39C_ENST00000317571.3_Nonsense_Mutation_p.Q398*|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.Q337* Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 398 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 TACAGTTTGTCAGGGAGCCAC 0.368000 12 22 0 0 0.105934 0 0 OR4C6 219432 broad.mit.edu 37 11 55432771 55432771 + Silent SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr11:55432771T>C ENST00000314259.3 + 1 158 c.129T>C c.(127-129)atT>atC p.I43I NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 ATCTACTTATTGTGGTAACTA 0.408000 82 66 0 0 0.139131 0 0 ASNS 440 broad.mit.edu 37 7 97488686 97488686 + Missense_Mutation SNP G G A rs138299423 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:97488686G>A ENST00000175506.4 - 6 1040 c.512C>T c.(511-513)gCg>gTg p.A171V ASNS_ENST00000437628.1_Missense_Mutation_p.A88V|ASNS_ENST00000394308.3_Missense_Mutation_p.A171V|ASNS_ENST00000394309.3_Missense_Mutation_p.A171V|ASNS_ENST00000444334.1_Missense_Mutation_p.A150V|ASNS_ENST00000422745.1_Missense_Mutation_p.A150V|ASNS_ENST00000455086.1_Missense_Mutation_p.A88V NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 171 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AAAGGGAGTCGCGGAGTGCTT 0.368000 39 63 0 0 0.080422 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319078 21319078 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:21319078A>T ENST00000583088.1 + 3 1319 c.424A>T c.(424-426)Acc>Tcc p.T142S KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142S NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CGAGACGCAGACCACCATCGG 0.657000 Prostate(3;0.18) 13 63 0 0 0.119110 0 0 ARID3A 1820 broad.mit.edu 37 19 971943 971943 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:971943G>C ENST00000263620.3 + 9 1987 c.1660G>C c.(1660-1662)Ggc>Cgc p.G554R NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 554 Gly-rich.|Important for cytoplasmic localization (By similarity). cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) Aggcggcggcggcggcggcag 0.667000 16 47 0 0 0.146539 0 0 ISLR2 57611 broad.mit.edu 37 15 74425610 74425610 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr15:74425610C>A ENST00000361742.3 + 4 1284 c.515C>A c.(514-516)gCg>gAg p.A172E ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172E|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172E|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172E|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172E|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172E|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172E NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 172 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 GCGCTTAGCGCGCTGTCACAC 0.667000 81 10 1.15773e-35 1.58302e-35 0.139131 1 0 PPP2R5C 5527 broad.mit.edu 37 14 102391561 102391561 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr14:102391561G>C ENST00000422945.2 + 16 1716 c.1620G>C c.(1618-1620)ttG>ttC p.L540F PPP2R5C_ENST00000328724.5_Missense_Mutation_p.L525F|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.L470F|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.L509F NM_001161725.1 NP_001155197.1 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 509 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AGAAAGCCTTGGAAGCTCACT 0.637000 64 27 0 0 0.139131 0 0 ACBD3 64746 broad.mit.edu 37 1 226340302 226340302 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:226340302G>C ENST00000366812.5 - 7 1163 c.1109C>G c.(1108-1110)gCa>gGa p.A370G RP11-275I14.4_ENST00000440540.1_RNA NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 370 steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) GGATGGAGCTGCTATTACTGG 0.448000 76 139 0 0 0.139131 0 0 HECW1 23072 broad.mit.edu 37 7 43503399 43503399 + Splice_Site SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:43503399G>A ENST00000395891.1 + 14 3396 c.e14+1 HECW1_ENST00000453890.1_Splice_Site NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 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 TCCAGCTTAGGTATTGGAGGA 0.602000 61 82 0 0 0.139131 0 0 NEURL2 140825 broad.mit.edu 37 20 44519288 44519288 + Missense_Mutation SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr20:44519288T>C ENST00000372518.4 - 1 638 c.343A>G c.(343-345)Atc>Gtc p.I115V NM_001278535.1|NM_080749.2 NP_001265464.1|NP_542787.1 Q9BR09 NEUL2_HUMAN neuralized E3 ubiquitin protein ligase 2 115 NHR. intracellular signal transduction large_intestine(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) TGGCGCGTGATGGCGAAGACC 0.706000 46 9 0 0 0.139131 0 0 ATP2A3 489 broad.mit.edu 37 17 3854894 3854894 + Missense_Mutation SNP G G A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:3854894G>A ENST00000309890.7 - 4 455 c.305C>T c.(304-306)gCc>gTc p.A102V ATP2A3_ENST00000397043.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A102V NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 102 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GCCCACAATGGCGTTGGCCAC 0.687000 10 12 0 0 0.058154 0 0 TMEM255A 55026 broad.mit.edu 37 X 119421060 119421060 + Nonsense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chrX:119421060G>T ENST00000371369.4 - 5 598 c.372C>A c.(370-372)taC>taA p.Y124* TMEM255A_ENST00000309720.5_Nonsense_Mutation_p.Y124*|TMEM255A_ENST00000440464.1_Nonsense_Mutation_p.Y124* NM_001104544.1 NP_001098014.1 transmembrane protein 255A ACCGGTTAGCGTAGAGTGGTT 0.448000 6 173 2.7689e-08 3.25467e-08 0.029380 1 0 NRAP 4892 broad.mit.edu 37 10 115384664 115384664 + Missense_Mutation SNP T T A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr10:115384664T>A ENST00000369358.4 - 22 2538 c.2294A>T c.(2293-2295)cAg>cTg p.Q765L NRAP_ENST00000360478.3_Missense_Mutation_p.Q722L|NRAP_ENST00000359988.3_Missense_Mutation_p.Q757L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q730L Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 757 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ATGGACAGACTGCTCATTTCC 0.567000 39 12 0 0 0.086207 0 0 SRGAP1 57522 broad.mit.edu 37 12 64505580 64505580 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr12:64505580A>G ENST00000355086.3 + 17 2482 c.1958A>G c.(1957-1959)tAt>tGt p.Y653C SRGAP1_ENST00000357825.3_Missense_Mutation_p.Y630C|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Y590C|RP11-196H14.4_ENST00000535806.1_RNA NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 653 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) ATGGACCCTTATAACCTGGCC 0.378000 21 55 0 0 0.076483 0 0 LTBP1 4052 broad.mit.edu 37 2 33482371 33482371 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr2:33482371C>A ENST00000404816.2 + 12 2541 c.2188C>A c.(2188-2190)Cct>Act p.P730T LTBP1_ENST00000418533.2_Missense_Mutation_p.P404T|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.P404T|LTBP1_ENST00000407925.1_Missense_Mutation_p.P404T|LTBP1_ENST00000354476.3_Missense_Mutation_p.P730T|LTBP1_ENST00000404525.1_Intron Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 730 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGAAATCTGTCCTGGTGGAAT 0.393000 29 39 5.97227e-30 7.9236e-30 0.045705 1 0 SRSF2 6427 broad.mit.edu 37 17 74732524 74732524 + Missense_Mutation SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:74732524G>C ENST00000392485.2 - 2 557 c.385C>G c.(385-387)Cga>Gga p.R129G MFSD11_ENST00000588460.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117G|SRSF2_ENST00000359995.5_Missense_Mutation_p.R129G|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 129 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity p.R129*(1)|p.R109*(1) haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 CTCCGGGATCGGCTGCGGCGA 0.711000 Mis """MDS, CLL""" 12 85 0 0 0.093190 0 0 APCDD1L 164284 broad.mit.edu 37 20 57045686 57045686 + Missense_Mutation SNP T T G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr20:57045686T>G ENST00000371149.3 - 2 397 c.167A>C c.(166-168)aAt>aCt p.N56T APCDD1L_ENST00000439429.1_Missense_Mutation_p.N67T NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 56 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) CCAAGGTCCATTAAGGCGTGG 0.617000 7 10 0 0 0.038147 0 0 AFF3 3899 broad.mit.edu 37 2 100368683 100368683 + Splice_Site SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr2:100368683C>A ENST00000317233.4 - 8 1237 c.1002_splice c.e8+1 p.K334_splice AFF3_ENST00000356421.2_Splice_Site_p.K359_splice|AFF3_ENST00000409236.1_Splice_Site_p.K334_splice|AFF3_ENST00000409579.1_Splice_Site_p.K359_splice NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 334 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AAGATCTCACCTTATTTGGAA 0.443000 20 44 8.10497e-08 9.44406e-08 0.055883 1 0 BPIFA3 128861 broad.mit.edu 37 20 31813043 31813043 + Missense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr20:31813043A>C ENST00000375454.3 + 4 736 c.526A>C c.(526-528)Atc>Ctc p.I176L BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.I140L NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 176 extracellular region lipid binding CCATGTGGCCATCCTCACTGA 0.582000 4 141 0 0 0.009096 0 0 TECRL 253017 broad.mit.edu 37 4 65274963 65274963 + Missense_Mutation SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr4:65274963A>G ENST00000381210.3 - 1 217 c.107T>C c.(106-108)tTg>tCg p.L36S TECRL_ENST00000507440.1_Missense_Mutation_p.L36S NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 36 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AAGTTTTGACAAAAAGTGAAA 0.413000 12 40 0 0 0.105934 0 0 ZNF85 7639 broad.mit.edu 37 19 21132175 21132175 + Silent SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:21132175C>A ENST00000601023.1 + 2 1324 c.678C>A c.(676-678)ccC>ccA p.P226P ZNF85_ENST00000345030.6_Silent_p.P252P|ZNF85_ENST00000328178.8_Silent_p.P285P Q03923 ZNF85_HUMAN zinc finger protein 85 285 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 GAGAGAAACCCTACAAATGTA 0.353000 13 15 0.00185496 0.00200455 0.105934 1 0 PKP4 8502 broad.mit.edu 37 2 159519912 159519912 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr2:159519912A>T ENST00000389757.3 + 15 2657 c.2532A>T c.(2530-2532)gaA>gaT p.E844D PKP4_ENST00000389759.3_Missense_Mutation_p.E844D|PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 844 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CCACCTTGGAAGGCTCTGCAG 0.493000 HNSCC(62;0.18) 34 54 0 0 0.059317 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36207835 36207835 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr14:36207835C>T ENST00000258840.6 - 12 1861 c.1471G>A c.(1471-1473)Gat>Aat p.D491N RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D491N Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 491 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CGAACATGATCAGCAGTATTG 0.388000 5 133 0 0 0.014758 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628268 29628268 + Missense_Mutation SNP A A T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr20:29628268A>T ENST00000278882.3 + 6 650 c.270A>T c.(268-270)agA>agT p.R90S FRG1B_ENST00000439954.2_Missense_Mutation_p.R95S|FRG1B_ENST00000358464.4_Missense_Mutation_p.R90S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GCTTTATTAGATGCAATGAAG 0.358000 3 51 0 0 0.021553 0 0 PLXNA2 5362 broad.mit.edu 37 1 208216455 208216455 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:208216455C>T ENST00000367033.3 - 21 4725 c.3968G>A c.(3967-3969)cGa>cAa p.R1323Q NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1323 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GAACAGGACTCGCATAGCGTA 0.607000 29 32 0 0 0.134883 0 0 EPHB6 2051 broad.mit.edu 37 7 142568363 142568363 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr7:142568363G>T ENST00000392957.2 + 19 3669 c.2882G>T c.(2881-2883)gGa>gTa p.G961V EPHB6_ENST00000411471.2_Missense_Mutation_p.G684V|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.G961V NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 961 SAM. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TCAGCCATTGGACTGGAGTGC 0.597000 36 127 9.17885e-22 1.16035e-21 0.059317 1 0 OR8J3 81168 broad.mit.edu 37 11 55904545 55904545 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr11:55904545G>T ENST00000301529.1 - 1 649 c.650C>A c.(649-651)tCt>tAt p.S217Y NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) ATTGAAATAAGATACTAGAAC 0.363000 26 42 2.41591e-17 2.97002e-17 0.099896 1 0 CXorf22 170063 broad.mit.edu 37 X 35966561 35966561 + Silent SNP A A G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chrX:35966561A>G ENST00000297866.5 + 4 714 c.648A>G c.(646-648)gaA>gaG p.E216E NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 216 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TTGTAGATGAAGAGGCAATGT 0.373000 37 9 0 0 0.098360 0 0 TRHR 7201 broad.mit.edu 37 8 110099852 110099852 + Silent SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr8:110099852C>A ENST00000518632.1 + 2 462 c.111C>A c.(109-111)ggC>ggA p.G37G TRHR_ENST00000311762.2_Silent_p.G37G P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 37 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TTATTTGTGGCCTGGGCATTG 0.507000 38 53 3.21399e-22 4.14111e-22 0.074837 1 0 DHRS4L2 317749 broad.mit.edu 37 14 24464313 24464313 + Missense_Mutation SNP A A C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr14:24464313A>C ENST00000335125.6 + 3 505 c.379A>C c.(379-381)Atg>Ctg p.M127L DHRS4L2_ENST00000545240.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.M26L|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.M125L NM_198083.3 NP_932349.2 D5KJA1 D5KJA1_HUMAN dehydrogenase/reductase (SDR family) member 4 like 2 74 binding|oxidoreductase activity breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 10 GBM - Glioblastoma multiforme(265;0.00962) TGGAAGCCTAATGGATGTCAC 0.522000 9 686 0 0 0.069234 0 0 EP400 57634 broad.mit.edu 37 12 132491260 132491260 + Missense_Mutation SNP C C T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr12:132491260C>T ENST00000333577.4 + 16 3359 c.3250C>T c.(3250-3252)Cca>Tca p.P1084S EP400_ENST00000330386.6_Missense_Mutation_p.P1048S|EP400_ENST00000332482.4_Missense_Mutation_p.P1011S|EP400_ENST00000389562.2_Missense_Mutation_p.P1047S|EP400_ENST00000389561.2_Missense_Mutation_p.P1048S Q96L91 EP400_HUMAN E1A binding protein p400 1084 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GTTTAATGCTCCATCTTTGTT 0.398000 20 21 0 0 0.055883 0 0 IGKV1OR2-118 339562 broad.mit.edu 37 2 90458669 90458669 + Missense_Mutation SNP T T A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr2:90458669T>A ENST00000603238.1 + 2 345 c.345T>A c.(343-345)ccT>ccA p.115_115insP ACAGTACCCCTCCCACAGCGT 0.517000 33 610 0 0 0.059317 0 0 ADCK4 79934 broad.mit.edu 37 19 41206235 41206235 + Missense_Mutation SNP T T G TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr19:41206235T>G ENST00000324464.3 - 11 1316 c.1015A>C c.(1015-1017)Agc>Cgc p.S339R ADCK4_ENST00000450541.1_Missense_Mutation_p.S298R|ADCK4_ENST00000243583.6_Missense_Mutation_p.S298R NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 339 Protein kinase. integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) AGGTCCTGGCTTAGGCCCTGG 0.672000 17 47 0 0 0.146539 0 0 FAM102B 284611 broad.mit.edu 37 1 109170788 109170788 + Splice_Site SNP G G C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:109170788G>C ENST00000370035.3 + 7 896 c.e7-1 FAM102B_ENST00000405454.1_Splice_Site NM_001010883.2 NP_001010883.2 Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) ACATATTACAGATCTTTCAGC 0.378000 25 10 0 0 0.091800 0 0 ADCK3 56997 broad.mit.edu 37 1 227152980 227152993 + Frame_Shift_Del DEL TTCTCTGCCATGGG TTCTCTGCCATGGG - rs147812454 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:227152980_227152993delTTCTCTGCCATGGG ENST00000366779.1 + 8 3228_3241 c.457_470delTTCTCTGCCATGGG c.(457-471)cfs p.FSAMG153fs ADCK3_ENST00000366778.1_Frame_Shift_Del_p.FSAMG101fs|ADCK3_ENST00000366776.1_Frame_Shift_Del_p.FSAMG78fs|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Frame_Shift_Del_p.FSAMG153fs|ADCK3_ENST00000366775.1_Start_Codon_Del|ADCK3_ENST00000458507.2_Intron Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 153 cell death mitochondrion ATP binding|protein serine/threonine kinase activity p.G157D(1) endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CAGAGACTCATTCTCTGCCATGGGCTTTCAGCGA 0.636 9 40 --- --- --- --- NUP133 55746 broad.mit.edu 37 1 229625736 229625736 + Frame_Shift_Del DEL G G - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr1:229625736delG ENST00000261396.3 - 9 1251 c.1160delC c.(1159-1161)atfs p.T387fs NUP133_ENST00000366679.1_Frame_Shift_Del_p.T387fs|NUP133_ENST00000537506.1_Frame_Shift_Del_p.T371fs NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 387 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GACTTCTACAGTAACTGCATC 0.348 15 24 --- --- --- --- ZFP36L2 678 broad.mit.edu 37 2 43452544 43452545 + Frame_Shift_Ins INS - - T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr2:43452544_43452545insT ENST00000282388.3 - 2 691_692 c.398_399insA c.(397-399)cctfs p.P133fs THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 133 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GGTGCAGGAGGTGCTGGCTGCG 0.658 20 27 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400639 195400641 + RNA DEL GTG GTG - rs145880653 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr3:195400639_195400641delGTG ENST00000445430.1 + 0 1284 AGGTGGGCTTGTGGAGGAATGGG 0.552 2 4 --- --- --- --- SCAMP1 9522 broad.mit.edu 37 5 77714718 77714718 + Frame_Shift_Del DEL T T - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr5:77714718delT ENST00000538629.1 + 5 620 c.463delT c.(463-465)tgfs p.L155fs SCAMP1_ENST00000339292.4_3'UTR NM_004866.4 NP_004857.4 O15126 SCAM1_HUMAN secretory carrier membrane protein 1 155 post-Golgi vesicle-mediated transport|protein transport integral to membrane|recycling endosome membrane|trans-Golgi network protein binding all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37) TATGTACTACTTGTGGATGTG 0.338 9 8 --- --- --- --- APC 324 broad.mit.edu 37 5 112175951 112175952 + Frame_Shift_Ins INS - - A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr5:112175951_112175952insA ENST00000457016.1 + 16 5040_5041 c.4660_4661insA c.(4660-4662)aaafs p.K1554fs APC_ENST00000508376.2_Frame_Shift_Ins_p.K1554fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1554fs P25054 APC_HUMAN adenomatous polyposis coli 1554 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAAAGAGGCAGAAAAAACTATT 0.342 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 33 14 --- --- --- --- DOCK2 1794 broad.mit.edu 37 5 169472903 169472904 + Frame_Shift_Ins INS - - A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr5:169472903_169472904insA ENST00000256935.8 + 39 4040_4041 c.3960_3961insA c.(3958-3963)caacctfs p.P1321fs DOCK2_ENST00000540750.1_Frame_Shift_Ins_p.P382fs|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.P813fs NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1321 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.N1321fs*10(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCTCAGCCAGAACCTGGTAAG 0.584 20 59 --- --- --- --- GOLGA6L4 643707 broad.mit.edu 37 15 82934841 82934841 + Frame_Shift_Del DEL C C - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr15:82934841delC ENST00000559949.1 - 6 798 c.739delG c.(739-741)agfs p.E248fs RP13-996F3.5_ENST00000560844.1_5'UTR NS(1) 1 AGCCTCTCCTCCTGTTCACGT 0.557 2 4 --- --- --- --- SCNN1B 6338 broad.mit.edu 37 16 23391989 23391989 + Frame_Shift_Del DEL G G - rs140945152 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr16:23391989delG ENST00000343070.2 + 13 1966 c.1790delG c.(1789-1791)ccfs p.R597fs SCNN1B_ENST00000307331.5_Frame_Shift_Del_p.R642fs|SCNN1B_ENST00000568923.1_Frame_Shift_Del_p.R570fs|SCNN1B_ENST00000568085.1_Frame_Shift_Del_p.R561fs NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 597 R -> H. excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) ACGGCCCCCCGCAGCCCCAAC 0.711 23 40 --- --- --- --- LAT 27040 broad.mit.edu 37 16 29000849 29000849 + Splice_Site DEL G G - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr16:29000849delG ENST00000395456.2 + 9 817 c.493_splice c.e9-1 p.M165_splice RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000564277.1_Splice_Site_p.M164_splice|LAT_ENST00000454369.2_Splice_Site_p.M164_splice|LAT_ENST00000395461.3_Splice_Site_p.M201_splice|LAT_ENST00000360872.5_Splice_Site_p.M194_splice|LAT_ENST00000354453.4_Splice_Site_p.M184_splice|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Splice_Site_p.M193_splice NM_001014987.1|NM_001014988.1|NM_014387.3 NP_001014987.1|NP_001014988.1|NP_055202.1 O43561 LAT_HUMAN linker for activation of T cells 194 calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) TTTCCACAGTGGAGTCCATTG 0.622 39 54 --- --- --- --- HP 3240 broad.mit.edu 37 16 72094177 72094178 + Frame_Shift_Del DEL TC TC - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr16:72094177_72094178delTC ENST00000355906.5 + 7 667_668 c.609_610delTC c.(607-612)aatcfs p.NL203fs HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Frame_Shift_Del_p.NL144fs|HP_ENST00000570083.1_Frame_Shift_Del_p.NL144fs|HP_ENST00000398131.2_Frame_Shift_Del_p.NL144fs|HP_ENST00000562526.1_Intron NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 203 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) CGGCTAAAAATCTCTTCCTGAA 0.465 43 16 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44248899 44248899 + Frame_Shift_Del DEL C C - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:44248899delC ENST00000262419.6 - 2 1081 c.611delG c.(610-612)gtfs p.G204fs KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G204fs NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 204 MLL1 complex protein binding ATTGGTCATACCCCCCTTCAA 0.458 53 266 --- --- --- --- TBC1D3P1-DHX40P1 653645 broad.mit.edu 37 17 58090681 58090681 + RNA DEL T T - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr17:58090681delT ENST00000407042.3 - 0 609 CTCTGAATGATTTTTTTTTTT 0.458 3 5 --- --- --- --- ADCYAP1 116 broad.mit.edu 37 18 909477 909478 + Frame_Shift_Del DEL CG CG - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr18:909477_909478delCG ENST00000579794.1 + 4 650_651 c.372_373delCG c.(370-375)gacgfs p.DA124fs ADCYAP1_ENST00000450565.3_Frame_Shift_Del_p.DA124fs NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 124 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 CGGGGGACGACGCGGAGCCGCT 0.668 67 93 --- --- --- --- ABHD3 171586 broad.mit.edu 37 18 19239184 19239191 + Frame_Shift_Del DEL GTTCAGTG GTTCAGTG - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr18:19239184_19239191delGTTCAGTG ENST00000578270.1 - 5 1137_1144 c.197_204delCACTGAAC c.(196-204)cfs p.PLN66fs ABHD3_ENST00000289119.2_Frame_Shift_Del_p.PLN261fs|ABHD3_ENST00000580981.1_Frame_Shift_Del_p.PLN208fs Q8WU67 ABHD3_HUMAN abhydrolase domain containing 3 261 integral to membrane carboxylesterase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2) 10 AAAGTAGCCAGTTCAGTGGTTTTTCCAA 0.447 24 92 --- --- --- --- SETBP1 26040 broad.mit.edu 37 18 42643322 42643322 + Frame_Shift_Del DEL A A - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr18:42643322delA ENST00000282030.5 + 6 4746 c.4450delA c.(4450-4452)aafs p.K1484fs NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1484 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCTGCCCAGCAAAAGAGGCCA 0.637 Schinzel-Giedion syndrome 2 4 --- --- --- --- ZNF492 57615 broad.mit.edu 37 19 22836811 22836811 + Frame_Shift_Del DEL C C - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:22836811delC ENST00000456783.2 + 3 368 c.124delC c.(124-126)ccfs p.P43fs NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) GGTAGCTGAACCCCCAGGTAG 0.413 67 62 --- --- --- --- ZNF404 342908 broad.mit.edu 37 19 44377859 44377881 + Frame_Shift_Del DEL TACAAATGCTTTTCCACATTCAT TACAAATGCTTTTCCACATTCAT - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:44377859_44377881delTACAAATGCTTTTCCACATTCAT ENST00000587539.1 - 3 484_506 c.485_507delATGAATGTGGAAAAGCATTTGTA c.(484-507)afs p.NECGKAFV162fs ZNF404_ENST00000324394.6_Frame_Shift_Del_p.NECGKAFV160fs NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) GCTGGAAAACTACAAATGCTTTTCCACATTCATTACATTCATA 0.350 22 54 --- --- --- --- LILRA6 79168 broad.mit.edu 37 19 54746172 54746173 + Frame_Shift_Ins INS - - T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1 g.chr19:54746172_54746173insT ENST00000440558.2 - 3 132_133 c.84_85insA c.(82-87)aaccacfs p.NH28fs LILRB3_ENST00000407860.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000245621.5_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000396365.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000391735.3_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000419410.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000270464.5_Frame_Shift_Ins_p.NH28fs leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGAGGGTGGGTTTGGGGAAGG 0.619 23 55 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 11 38 --- --- --- --- ADCK3 56997 broad.mit.edu 37 1 227152980 227152993 + Frame_Shift_Del DEL TTCTCTGCCATGGG TTCTCTGCCATGGG - rs147812454 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:227152980_227152993delTTCTCTGCCATGGG ENST00000366779.1 + 8 3228_3241 c.457_470delTTCTCTGCCATGGG c.(457-471)cfs p.FSAMG153fs ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Frame_Shift_Del_p.FSAMG153fs|ADCK3_ENST00000366776.1_Frame_Shift_Del_p.FSAMG78fs|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Frame_Shift_Del_p.FSAMG101fs|ADCK3_ENST00000366775.1_Start_Codon_Del Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 153 cell death mitochondrion ATP binding|protein serine/threonine kinase activity p.G157D(1) endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CAGAGACTCATTCTCTGCCATGGGCTTTCAGCGA 0.636 9 40 --- --- --- --- NUP133 55746 broad.mit.edu 37 1 229625736 229625736 + Frame_Shift_Del DEL G G - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr1:229625736delG ENST00000261396.3 - 9 1251 c.1160delC c.(1159-1161)atfs p.T387fs NUP133_ENST00000366679.1_Frame_Shift_Del_p.T387fs|NUP133_ENST00000537506.1_Frame_Shift_Del_p.T371fs NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 387 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GACTTCTACAGTAACTGCATC 0.348 15 24 --- --- --- --- H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400639 195400641 + RNA DEL GTG GTG - rs145880653 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr3:195400639_195400641delGTG ENST00000445430.1 + 0 1284 AGGTGGGCTTGTGGAGGAATGGG 0.552 2 4 --- --- --- --- SCAMP1 9522 broad.mit.edu 37 5 77714718 77714718 + Frame_Shift_Del DEL T T - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr5:77714718delT ENST00000538629.1 + 5 620 c.463delT c.(463-465)tgfs p.L155fs SCAMP1_ENST00000339292.4_3'UTR NM_004866.4 NP_004857.4 O15126 SCAM1_HUMAN secretory carrier membrane protein 1 155 post-Golgi vesicle-mediated transport|protein transport integral to membrane|recycling endosome membrane|trans-Golgi network protein binding all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37) TATGTACTACTTGTGGATGTG 0.338 9 8 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086381 20086382 + RNA INS - - T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr14:20086381_20086382insT ENST00000548261.1 + 0 135 GTCTTACAAGGTAAAAAAAATG 0.312 3 3 --- --- --- --- SCNN1B 6338 broad.mit.edu 37 16 23391989 23391989 + Frame_Shift_Del DEL G G - rs140945152 TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr16:23391989delG ENST00000343070.2 + 13 1966 c.1790delG c.(1789-1791)ccfs p.R597fs SCNN1B_ENST00000307331.5_Frame_Shift_Del_p.R642fs|SCNN1B_ENST00000568923.1_Frame_Shift_Del_p.R570fs|SCNN1B_ENST00000568085.1_Frame_Shift_Del_p.R561fs NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 597 R -> H. excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) ACGGCCCCCCGCAGCCCCAAC 0.711 23 40 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44248899 44248899 + Frame_Shift_Del DEL C C - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chr17:44248899delC ENST00000262419.6 - 2 1081 c.611delG c.(610-612)gtfs p.G204fs KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G204fs NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 204 MLL1 complex protein binding ATTGGTCATACCCCCCTTCAA 0.458 53 266 --- --- --- --- RNA5-8SP6 100873336 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b2767d9-10b4-4ec4-9437-5a5186e284ca e7311353-3925-4bc6-96a7-86ad927a0ed1 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 5 10 --- --- --- ---