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 OGFOD3 79701 broad.mit.edu 37 17 80361813 80361813 + Splice_Site SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:80361813C>A ENST00000313056.5 - 7 850 c.699_splice c.e7+1 p.K233_splice OGFOD3_ENST00000329197.5_Splice_Site_p.K233_splice NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 GCGCGCTCACCTTGTCCACGT 0.677000 9 14 1.58986e-06 2.77437e-06 0.008291 1 0 EGR1 1958 broad.mit.edu 37 5 137802542 137802542 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:137802542G>T ENST00000239938.4 + 2 676 c.404G>T c.(403-405)gGc>gTc p.G135V NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 135 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACCTATACTGGCCGCTTTTCC 0.582000 86 50 1.46381e-53 4.08162e-53 0.014410 1 0 CPQ 10404 broad.mit.edu 37 8 97797326 97797326 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:97797326G>A ENST00000220763.5 + 2 411 c.201G>A c.(199-201)ttG>ttA p.L67L NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 67 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity ATGAGCGATTGGCACTTCTGG 0.438000 50 97 0 0 0.014410 0 0 ZNF607 84775 broad.mit.edu 37 19 38202555 38202555 + Translation_Start_Site SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:38202555G>A ENST00000355202.4 - 0 560 ZNF607_ENST00000395835.3_De_novo_Start_OutOfFrame|CTD-2528L19.4_ENST00000586606.2_De_novo_Start_OutOfFrame NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) AGTCCTTGGCGTTTCTCTACC 0.438000 15 47 0 0 0.002450 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731926 140731926 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:140731926T>A ENST00000523390.1 + 1 2099 c.2099T>A c.(2098-2100)cTc>cAc p.L700H PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCTCTTTCTCCTCGCGGTG 0.607000 159 93 0 0 0.014410 0 0 WDR66 144406 broad.mit.edu 37 12 122396894 122396894 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:122396894T>C ENST00000288912.4 + 13 2881 c.2027T>C c.(2026-2028)cTt>cCt p.L676P WDR66_ENST00000397454.2_Missense_Mutation_p.L676P NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 676 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) GTTTACATTCTTGATGCAATG 0.418000 60 118 0 0 0.014410 0 0 ADCY10 55811 broad.mit.edu 37 1 167830185 167830185 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:167830185G>A ENST00000367848.1 - 15 1954 c.1457C>T c.(1456-1458)aCc>aTc p.T486I ADCY10_ENST00000545172.1_Missense_Mutation_p.T425I|ADCY10_ENST00000367851.4_Missense_Mutation_p.T578I Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 578 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 TCGAAGGTTGGTCTGTCGTTC 0.363000 31 213 0 0 0.012213 0 0 AFM 173 broad.mit.edu 37 4 74357672 74357672 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:74357672G>A ENST00000226355.3 + 8 1020 c.927G>A c.(925-927)gaG>gaA p.E309E NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 309 Albumin 2. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAATACCAGAGCGCGGCCAGT 0.353000 33 68 0 0 0.010818 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222535 140222535 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:140222535G>T ENST00000531613.1 + 1 1629 c.1629G>T c.(1627-1629)ccG>ccT p.P543P PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P543P|PCDHA5_ENST00000529859.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCGTGCCGCCTCTGGGCA 0.687000 125 47 1.22322e-63 3.50345e-63 0.014410 1 0 BOLL 66037 broad.mit.edu 37 2 198646503 198646503 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:198646503G>A ENST00000321801.7 - 2 678 c.108C>T c.(106-108)gcC>gcT p.A36A BOLL_ENST00000433157.1_Silent_p.A24A|BOLL_ENST00000392296.4_Silent_p.A24A|BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000430004.1_Silent_p.A24A NM_197970.2 NP_932074.1 Q8N9W6 BOLL_HUMAN boule-like RNA-binding protein 24 RRM. cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 CATATCTTGGGGCACTTGTTG 0.368000 83 203 0 0 0.014410 0 0 KLK3 354 broad.mit.edu 37 19 51361318 51361318 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:51361318G>T ENST00000360617.3 + 3 240 c.240G>T c.(238-240)ctG>ctT p.L80L KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Silent_p.L80L|KLK3_ENST00000326003.2_Silent_p.L80L|KLK3_ENST00000597483.1_Intron P07288 KLK3_HUMAN kallikrein-related peptidase 3 80 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) GGCACAGCCTGTTTCATCCTG 0.547000 20 55 1.2644e-06 2.22138e-06 0.010504 1 0 SNTG1 54212 broad.mit.edu 37 8 51465741 51465741 + Splice_Site SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:51465741T>A ENST00000522124.1 + 12 1471 c.e12+2 SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) AAGCACAATGTAAGTAATGAT 0.408000 29 42 0 0 0.010818 0 0 NRXN1 9378 broad.mit.edu 37 2 51255149 51255149 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:51255149C>A ENST00000404971.1 - 2 1602 c.263G>T c.(262-264)cGc>cTc p.R88L NRXN1_ENST00000406859.3_Missense_Mutation_p.R88L|NRXN1_ENST00000401669.2_Missense_Mutation_p.R88L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R88L|NRXN1_ENST00000405581.1_Missense_Mutation_p.R88L|NRXN1_ENST00000405472.3_Missense_Mutation_p.R88L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R88L NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 88 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GAGCTGCAGGCGGCCGCCGCG 0.677000 13 31 0.000219431 0.000373033 0.002450 1 0 EHMT2 10919 broad.mit.edu 37 6 31852716 31852716 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:31852716C>T ENST00000395728.3 - 18 2591 c.2592G>A c.(2590-2592)cgG>cgA p.R864R EHMT2_ENST00000375528.4_Silent_p.R830R|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.R773R|EHMT2_ENST00000375537.4_Silent_p.R807R Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 807 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding p.R807R(1) central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CGTCGGCGCCCCGCGTCAGTA 0.637000 19 49 0 0 0.007413 0 0 PSG11 5680 broad.mit.edu 37 19 43519364 43519364 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:43519364G>T ENST00000401740.1 - 4 971 c.868C>A c.(868-870)Cag>Aag p.Q290K PSG11_ENST00000320078.7_Missense_Mutation_p.Q290K|PSG11_ENST00000306322.7_Missense_Mutation_p.Q168K|PSG11_ENST00000403486.1_Missense_Mutation_p.Q168K Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 290 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GGAGTAATCTGAGGGATAAAG 0.463000 73 269 5.32961e-40 1.37682e-39 0.014410 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32891042 32891042 + RNA SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:32891042C>A ENST00000330048.5 - 0 2925 NR_003083.2 ACATCCCACCCTGGGGGACAG 0.602000 68 77 2.40982e-25 5.47402e-25 0.014410 1 0 LILRA4 23547 broad.mit.edu 37 19 54848199 54848199 + Missense_Mutation SNP C C G rs143168076 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:54848199C>G ENST00000291759.4 - 6 1224 c.1168G>C c.(1168-1170)Gcg>Ccg p.A390P AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 390 Ig-like C2-type 4. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TAGGTCCCCGCGTGGGCTGAG 0.622000 115 254 0 0 0.014410 0 0 GPR115 221393 broad.mit.edu 37 6 47681561 47681561 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:47681561C>A ENST00000283303.2 + 6 838 c.580C>A c.(580-582)Ctc>Atc p.L194I GPR115_ENST00000327753.3_Missense_Mutation_p.L194I|GPR115_ENST00000371220.1_Missense_Mutation_p.L251I NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 194 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CAACCACATCCTCGACACAGC 0.413000 59 63 7.82978e-24 1.75587e-23 0.014410 1 0 CHN1 1123 broad.mit.edu 37 2 175677163 175677163 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:175677163C>T ENST00000409900.3 - 9 1073 c.760G>A c.(760-762)Gac>Aac p.D254N CHN1_ENST00000409156.3_Missense_Mutation_p.D228N|CHN1_ENST00000409597.1_Missense_Mutation_p.D70N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.D129N NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 254 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) GGCTTACAGTCATTTGGGACC 0.398000 T TAF15 extraskeletal myxoid chondrosarcoma 105 88 0 0 0.014410 0 0 SNHG14 104472715 broad.mit.edu 37 15 25446384 25446384 + RNA SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:25446384C>A ENST00000424208.1 + 0 1959 SNHG14_ENST00000424333.1_RNA NR_003305.1 CATGCCCTTCCTGGTGCCCTA 0.592000 35 118 1.45844e-13 2.87863e-13 0.013726 1 0 LPA 4018 broad.mit.edu 37 6 161007518 161007518 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:161007518C>A ENST00000447678.1 - 26 4212 c.4092G>T c.(4090-4092)gtG>gtT p.V1364V LPA_ENST00000316300.5_Silent_p.V1364V NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3872 Kringle 12. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GAACTGGGACCACCGTGGGAG 0.493000 32 108 4.34311e-12 8.41477e-12 0.003271 1 0 RBBP8NL 140893 broad.mit.edu 37 20 60985978 60985978 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:60985978C>A ENST00000252998.1 - 14 2107 c.1951G>T c.(1951-1953)Gac>Tac p.D651Y NM_080833.2 NP_543023.2 RBBP8 N-terminal like GGACTGTGGTCCTCGGCGTCC 0.677000 76 85 1.24833e-42 3.35649e-42 0.014410 1 0 ZNF831 128611 broad.mit.edu 37 20 57768321 57768321 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:57768321C>A ENST00000371030.2 + 1 2247 c.2247C>A c.(2245-2247)gtC>gtA p.V749V NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 749 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCCCCCTGGTCTCTCCAAATG 0.642000 12 9 0.000978159 0.00164169 0.010729 1 0 SELE 6401 broad.mit.edu 37 1 169698396 169698396 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:169698396A>T ENST00000333360.7 - 7 1160 c.1021T>A c.(1021-1023)Ttg>Atg p.L341M SELE_ENST00000367774.1_Missense_Mutation_p.L341M|SELE_ENST00000367780.4_Missense_Mutation_p.L279M|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.L341M|SELE_ENST00000367779.4_Missense_Mutation_p.L341M|SELE_ENST00000367777.1_Missense_Mutation_p.L341M|SELE_ENST00000367776.1_Missense_Mutation_p.L341M|SELE_ENST00000367775.1_Missense_Mutation_p.L279M|SELE_ENST00000367782.4_Missense_Mutation_p.L341M NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 341 Sushi 3. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GGTCCCTGCAACATGAAGCCT 0.517000 63 80 0 0 0.014410 0 0 EN1 2019 broad.mit.edu 37 2 119600786 119600786 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:119600786C>G ENST00000295206.6 - 2 1417 c.907G>C c.(907-909)Gac>Cac p.D303H NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 303 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 GGCCGCTTGTCCTCCTTCTCG 0.677000 8 19 0 0 0.003080 0 0 KRT37 8688 broad.mit.edu 37 17 39578346 39578346 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:39578346A>T ENST00000225550.3 - 5 994 c.995T>A c.(994-996)gTg>gAg p.V332E AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 332 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) TTGGCGCTCCACCTCCAGGGC 0.582000 32 126 0 0 0.003271 0 0 BLM 641 broad.mit.edu 37 15 91341491 91341491 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:91341491A>G ENST00000355112.3 + 17 3400 c.3282A>G c.(3280-3282)tcA>tcG p.S1094S BLM_ENST00000560509.1_Silent_p.S1094S|BLM_ENST00000560136.1_3'UTR NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1094 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) ATAGTTCATCACAAGGAATGA 0.318000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 62 79 0 0 0.014410 0 0 FAM83H 286077 broad.mit.edu 37 8 144808765 144808765 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:144808765T>A ENST00000388913.3 - 5 2991 c.2866A>T c.(2866-2868)Agc>Tgc p.S956C NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 956 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) ATGGGGCCGCTCGGCCCCTCC 0.711000 18 34 0 0 0.007413 0 0 SYN3 8224 broad.mit.edu 37 22 32914053 32914053 + Silent SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr22:32914053T>A ENST00000358763.2 - 13 1829 c.1587A>T c.(1585-1587)ccA>ccT p.P529P SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Silent_p.P529P NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 529 J; Pro-rich linker. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GGGGTGGTGCTGGCTTCTTGG 0.592000 70 55 0 0 0.014410 0 0 ALPK3 57538 broad.mit.edu 37 15 85401453 85401453 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:85401453G>C ENST00000258888.5 + 6 4257 c.4090G>C c.(4090-4092)Ggg>Cgg p.G1364R NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1364 G -> E (in a metastatic melanoma sample; somatic mutation). heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACTGGCTCTAGGGGCCCGGAG 0.627000 11 18 0 0 0.013537 0 0 IL17RD 54756 broad.mit.edu 37 3 57130439 57130439 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:57130439G>A ENST00000296318.7 - 13 2290 c.2202C>T c.(2200-2202)caC>caT p.H734H IL17RD_ENST00000463523.1_Silent_p.H590H|IL17RD_ENST00000427856.2_Silent_p.H710H|IL17RD_ENST00000320057.5_Silent_p.H590H NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 734 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) GGGCGACCGCGTGGAGTTCAT 0.547000 116 65 0 0 0.014410 0 0 FOXM1 2305 broad.mit.edu 37 12 2975569 2975569 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:2975569T>A ENST00000342628.2 - 5 1078 c.965A>T c.(964-966)cAg>cTg p.Q322L FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.Q322L|FOXM1_ENST00000359843.3_Missense_Mutation_p.Q322L NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 322 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CTTAAACACCTGGTCCAATGT 0.498000 79 92 0 0 0.014410 0 0 PXDNL 137902 broad.mit.edu 37 8 52359687 52359687 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:52359687G>A ENST00000356297.4 - 12 1502 c.1402C>T c.(1402-1404)Ctc>Ttc p.L468F PXDNL_ENST00000543296.1_Missense_Mutation_p.L468F NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 468 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCAGAGGAGAGAACTGTATGC 0.507000 33 228 0 0 0.009535 0 0 DNAJA3 9093 broad.mit.edu 37 16 4494686 4494686 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:4494686T>A ENST00000262375.6 + 7 1030 c.953T>A c.(952-954)gTg>gAg p.V318E DNAJA3_ENST00000355296.4_Missense_Mutation_p.V318E|DNAJA3_ENST00000431375.2_Missense_Mutation_p.V165E NM_005147.5 NP_005138.3 Q96EY1 DNJA3_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 3 318 activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2) 15 GGCCAGACCGTGAGGATGCCT 0.567000 13 55 0 0 0.002450 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140869611 140869611 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:140869611T>A ENST00000252087.1 + 1 804 c.804T>A c.(802-804)gaT>gaA p.D268E PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 268 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCACTGATCCAGACGAGG 0.527000 166 83 0 0 0.014410 0 0 PTPRS 5802 broad.mit.edu 37 19 5225821 5225821 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:5225821G>C ENST00000372412.4 - 17 2647 c.2414C>G c.(2413-2415)gCg>gGg p.A805G PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000357368.4_Missense_Mutation_p.A804G|PTPRS_ENST00000588012.1_Missense_Mutation_p.A782G|PTPRS_ENST00000587303.1_Missense_Mutation_p.A804G|PTPRS_ENST00000348075.2_Missense_Mutation_p.A782G|PTPRS_ENST00000262963.6_Missense_Mutation_p.A800G|PTPRS_ENST00000353284.2_Intron Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 804 Fibronectin type-III 5. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GATGGAGTACGCGGTCTCAGG 0.647000 24 30 0 0 0.002780 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962246 69962246 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:69962246T>C ENST00000305231.7 + 1 54 c.8T>C c.(7-9)gTg>gCg p.V3A UGT2B7_ENST00000508661.1_Missense_Mutation_p.V3A|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 3 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGATGTCTGTGAAATGGACT 0.408000 39 82 0 0 0.006999 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73969507 73969507 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:73969507C>T ENST00000476977.1 + 18 3611 c.1920C>T c.(1918-1920)ccC>ccT p.P640P GTF2IRD1_ENST00000265755.3_Silent_p.P640P|GTF2IRD1_ENST00000455841.2_Silent_p.P672P|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.P640P Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 640 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTTCCAGGCCCGAGCTGCTCA 0.622000 14 137 0 0 0.004007 0 0 MPDZ 8777 broad.mit.edu 37 9 13192152 13192152 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr9:13192152C>G ENST00000319217.7 - 15 2193 c.1946G>C c.(1945-1947)tGt>tCt p.C649S MPDZ_ENST00000541718.1_Missense_Mutation_p.C649S|MPDZ_ENST00000447879.1_Missense_Mutation_p.C649S|MPDZ_ENST00000536827.1_Missense_Mutation_p.C649S|MPDZ_ENST00000381015.4_Missense_Mutation_p.C649S|MPDZ_ENST00000381022.2_Missense_Mutation_p.C649S|MPDZ_ENST00000546205.1_Missense_Mutation_p.C649S NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 649 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CTCAATATCACATAAGTCCAG 0.378000 7 8 0 0 0.001984 0 0 OR10G4 390264 broad.mit.edu 37 11 123886668 123886668 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:123886668C>A ENST00000320891.4 + 1 387 c.387C>A c.(385-387)ctC>ctA p.L129L NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTTACCCGCTCAGGTACACCA 0.552000 51 239 6.2918e-36 1.57894e-35 0.014410 1 0 GPRC6A 222545 broad.mit.edu 37 6 117130692 117130692 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:117130692G>T ENST00000310357.3 - 2 304 c.283C>A c.(283-285)Ctg>Atg p.L95M GPRC6A_ENST00000368549.3_Missense_Mutation_p.L95M|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L95M NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 95 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TCATACCCCAGTTTGACTCCA 0.408000 17 47 8.60227e-14 1.71072e-13 0.004007 1 0 ECM2 1842 broad.mit.edu 37 9 95284981 95284981 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr9:95284981C>T ENST00000344604.5 - 2 317 c.168G>A c.(166-168)caG>caA p.Q56Q CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.Q56Q|ECM2_ENST00000375540.1_Silent_p.Q56Q NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 56 Q -> P (in dbSNP:rs10120210). cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 CTGTTGTTTGCTGAATTCCAA 0.388000 75 78 0 0 0.014410 0 0 CPNE6 9362 broad.mit.edu 37 14 24546540 24546540 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr14:24546540C>A ENST00000397016.2 + 16 1788 c.1477C>A c.(1477-1479)Cga>Aga p.R493R CPNE6_ENST00000216775.2_Silent_p.R493R|CPNE6_ENST00000537691.1_Silent_p.R548R O95741 CPNE6_HUMAN copine VI (neuronal) 493 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) GCGCTGCCCCCGAGGGGTGCC 0.647000 57 30 1.3268e-25 3.02695e-25 0.014410 1 0 PCCA 5095 broad.mit.edu 37 13 100953772 100953772 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr13:100953772G>C ENST00000376285.1 + 13 1162 c.1124G>C c.(1123-1125)cGt>cCt p.R375P PCCA_ENST00000376279.3_Missense_Mutation_p.R375P|PCCA_ENST00000376286.4_Missense_Mutation_p.R349P NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 375 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) GAAATGATCCGTGTTGCTAAG 0.502000 47 212 0 0 0.014410 0 0 CFHR5 81494 broad.mit.edu 37 1 196971705 196971705 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:196971705C>T ENST00000367414.5 + 8 1369 c.1313C>T c.(1312-1314)gCt>gTt p.A438V CFHR5_ENST00000256785.4_Missense_Mutation_p.A414V NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 414 Sushi 7. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GAAAAAGTAGCTGTTCTCTGT 0.388000 43 48 0 0 0.007835 0 0 CA1 759 broad.mit.edu 37 8 86249258 86249258 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:86249258C>G ENST00000523953.1 - 5 1316 c.270G>C c.(268-270)agG>agC p.R90S CA1_ENST00000432364.2_Missense_Mutation_p.R90S|CA1_ENST00000542576.1_Missense_Mutation_p.R90S|CA1_ENST00000256119.5_Missense_Mutation_p.R90S|CA1_ENST00000523022.1_Missense_Mutation_p.R90S|CA1_ENST00000431316.1_Missense_Mutation_p.R90S|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000522389.1_Intron P00915 CAH1_HUMAN carbonic anhydrase I 90 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) ACTGAAAGAGCCTGTAGCTGT 0.423000 72 106 0 0 0.014410 0 0 OR6C1 390321 broad.mit.edu 37 12 55714896 55714896 + Silent SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:55714896T>A ENST00000379668.2 + 1 551 c.513T>A c.(511-513)atT>atA p.I171I NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 GGTCTAATATTATTGACCATT 0.373000 31 78 0 0 0.009535 0 0 PSPC1 55269 broad.mit.edu 37 13 20283715 20283715 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr13:20283715C>A ENST00000338910.4 - 7 1342 c.1183G>T c.(1183-1185)Gat>Tat p.D395Y NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 395 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) GGACCCATATCACCCATTCTC 0.383000 113 56 1.46925e-46 4.01188e-46 0.014410 1 0 KHDRBS2 202559 broad.mit.edu 37 6 62757835 62757835 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:62757835G>T ENST00000281156.4 - 3 562 c.284C>A c.(283-285)aCa>aAa p.T95K NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 95 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TTTAGCACCTGTTTCTTCCTG 0.378000 52 99 2.0833e-19 4.53677e-19 0.014410 1 0 OR10G7 390265 broad.mit.edu 37 11 123908791 123908791 + Silent SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:123908791T>C ENST00000330487.5 - 1 926 c.918A>G c.(916-918)gtA>gtG p.V306V NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CCTGAGCAAATACTGACCCAT 0.353000 36 47 0 0 0.006230 0 0 OR4A15 81328 broad.mit.edu 37 11 55136137 55136137 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:55136137G>T ENST00000314706.3 + 1 778 c.778G>T c.(778-780)Ggg>Tgg p.G260W NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GAGTTTGGAAGGGAAACGAAA 0.428000 97 107 2.42943e-58 6.84659e-58 0.014410 1 0 OR13C8 138802 broad.mit.edu 37 9 107331760 107331760 + Silent SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr9:107331760T>A ENST00000335040.1 + 1 312 c.312T>A c.(310-312)tcT>tcA p.S104S NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TGTTTATTTCTTTTGCCATGG 0.483000 97 58 0 0 0.014410 0 0 ACACB 32 broad.mit.edu 37 12 109577847 109577847 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:109577847C>T ENST00000338432.7 + 2 756 c.637C>T c.(637-639)Cgc>Tgc p.R213C ACACB_ENST00000377848.3_Missense_Mutation_p.R213C|ACACB_ENST00000377854.5_Missense_Mutation_p.R213C O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 213 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AGCTGAGACCCGCGTCCCCAC 0.587000 42 86 0 0 0.011902 0 0 DOCK1 1793 broad.mit.edu 37 10 128925932 128925932 + Splice_Site SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:128925932G>T ENST00000280333.6 + 27 2797 c.e27-1 NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.?(1) NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TCCTTCCCCAGGGGCCAACCC 0.473000 26 80 2.48779e-11 4.76752e-11 0.005443 1 0 KRT37 8688 broad.mit.edu 37 17 39580632 39580632 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:39580632G>T ENST00000225550.3 - 1 143 c.144C>A c.(142-144)aaC>aaA p.N48K AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 48 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CGTGTGCCACGTTGGCCAAGA 0.617000 31 83 1.39806e-14 2.84469e-14 0.008361 1 0 KMT2D 8085 broad.mit.edu 37 12 49445287 49445287 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:49445287G>A ENST00000301067.7 - 10 2178 c.2179C>T c.(2179-2181)Cca>Tca p.P727S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCAGGTAGTGGCAACAGGGGT 0.692000 59 113 0 0 0.014410 0 0 KCTD2 23510 broad.mit.edu 37 17 73055632 73055632 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:73055632C>T ENST00000322444.6 + 4 574 c.568C>T c.(568-570)Ctg>Ttg p.L190L KCTD2_ENST00000581589.1_5'UTR NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 190 voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) GTACAGAGTCCTGCAGTGTCA 0.562000 16 63 0 0 0.006122 0 0 PIGO 84720 broad.mit.edu 37 9 35095491 35095491 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr9:35095491G>A ENST00000378617.3 - 2 466 c.72C>T c.(70-72)ttC>ttT p.F24F PIGO_ENST00000298004.5_Silent_p.F24F|PIGO_ENST00000361778.2_Silent_p.F24F|PIGO_ENST00000341666.3_Silent_p.F24F|PIGO_ENST00000492770.1_5'UTR NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 24 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGCCACTGGTGAAGAGGGCAA 0.582000 7 8 0 0 0.003080 0 0 MYT1L 23040 broad.mit.edu 37 2 1914022 1914022 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:1914022G>T ENST00000399161.2 - 13 2554 c.1807C>A c.(1807-1809)Cgc>Agc p.R603S MYT1L_ENST00000428368.2_Missense_Mutation_p.R601S NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 603 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTGAGCACGCGGTCCGAGGCC 0.642000 32 55 2.85442e-18 6.11495e-18 0.010818 1 0 NLRP5 126206 broad.mit.edu 37 19 56572869 56572869 + Missense_Mutation SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:56572869A>G ENST00000390649.3 + 15 3578 c.3578A>G c.(3577-3579)gAt>gGt p.D1193G NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1193 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTTGATGAAGATGACCGGTAC 0.478000 36 147 0 0 0.004289 0 0 MAGEA12 4111 broad.mit.edu 37 X 151899994 151899994 + Nonsense_Mutation SNP G G T rs147399924 byFrequency TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:151899994G>T ENST00000393900.3 - 3 1160 c.807C>A c.(805-807)taC>taA p.Y269* MAGEA12_ENST00000393869.3_Nonsense_Mutation_p.Y269*|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Nonsense_Mutation_p.Y269* NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 269 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) ACAGGAACTCGTAGCATGCAG 0.542000 25 341 9.57634e-11 1.81537e-10 0.003330 1 0 ANKRD30BL 554226 broad.mit.edu 37 2 132914697 132914697 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:132914697G>T ENST00000409867.1 - 3 605 c.356C>A c.(355-357)gCt>gAt p.A119D ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like endometrium(1)|kidney(3) 4 ATTTGCACAAGCCTCCCTCTG 0.353000 4 12 1.23904e-05 2.1339e-05 0.000602 1 0 CCSER1 401145 broad.mit.edu 37 4 91549341 91549341 + Silent SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:91549341A>T ENST00000509176.1 + 6 2178 c.1890A>T c.(1888-1890)gcA>gcT p.A630A CCSER1_ENST00000432775.2_Silent_p.A630A|CCSER1_ENST00000333691.8_Silent_p.A630A NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 ACTGCACGGCAGTCAAGACGT 0.448000 33 51 0 0 0.013726 0 0 SORT1 6272 broad.mit.edu 37 1 109867652 109867652 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:109867652T>C ENST00000256637.6 - 14 1761 c.1703A>G c.(1702-1704)tAt>tGt p.Y568C SORT1_ENST00000538502.1_Missense_Mutation_p.Y431C NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 568 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GCCAGTGAAATAGATGGGGTC 0.488000 37 26 0 0 0.004878 0 0 ENTPD7 57089 broad.mit.edu 37 10 101439629 101439629 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:101439629A>T ENST00000370489.4 + 5 723 c.545A>T c.(544-546)gAg>gTg p.E182V NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 182 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) CTTCTCCCTGAGAGGTGAGAT 0.537000 55 100 0 0 0.014410 0 0 ABCA13 154664 broad.mit.edu 37 7 48390325 48390325 + Nonsense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:48390325C>A ENST00000435803.1 + 30 10314 c.10290C>A c.(10288-10290)tgC>tgA p.C3430* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3430 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCTCTTCCTGCGTGGCACTGA 0.522000 79 98 8.41775e-28 1.98043e-27 0.014410 1 0 FAM193A 8603 broad.mit.edu 37 4 2661397 2661397 + Splice_Site SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:2661397G>T ENST00000324666.5 + 7 980 c.629_splice c.e7+1 p.R210_splice FAM193A_ENST00000505311.1_Splice_Site_p.R210_splice|FAM193A_ENST00000502458.1_Splice_Site_p.R234_splice|FAM193A_ENST00000382839.3_Splice_Site_p.R210_splice|FAM193A_ENST00000545951.1_Splice_Site_p.R210_splice NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 210 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TACAGGAGAAGGTAAGGCTGG 0.552000 22 142 1.55795e-14 3.14574e-14 0.012319 1 0 ZFHX4 79776 broad.mit.edu 37 8 77775684 77775684 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:77775684C>A ENST00000521891.2 + 11 10182 c.9734C>A c.(9733-9735)gCa>gAa p.A3245E ZFHX4_ENST00000455469.2_Missense_Mutation_p.A3200E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A3219E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A3196E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3196 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGTTGCAGGCATTACAGAAT 0.438000 HNSCC(33;0.089) 119 215 2.06061e-42 5.5124e-42 0.014410 1 0 SLC39A11 201266 broad.mit.edu 37 17 71027788 71027788 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:71027788C>A ENST00000542342.2 - 4 301 c.213G>T c.(211-213)ggG>ggT p.G71G SLC39A11_ENST00000579732.1_Silent_p.G71G|SLC39A11_ENST00000255559.3_Silent_p.G71G NM_001159770.1 NP_001153242.1 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 71 zinc ion transport integral to membrane metal ion transmembrane transporter activity endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 CACCGAAGCCCCCAGAGGACG 0.532000 50 52 1.61863e-15 3.34516e-15 0.014410 1 0 RHOA 387 broad.mit.edu 37 3 49412905 49412905 + Nonsense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:49412905C>A ENST00000418115.1 - 2 502 c.118G>T c.(118-120)Gag>Tag p.E40* RHOA_ENST00000454011.2_Nonsense_Mutation_p.E40*|RHOA_ENST00000422781.1_Nonsense_Mutation_p.E40* NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 40 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding p.E40Q(1) cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ACATAGTTCTCAAACACTGTG 0.438000 118 91 3.41453e-61 9.6745e-61 0.014410 1 0 FLG 2312 broad.mit.edu 37 1 152280380 152280380 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:152280380C>T ENST00000368799.1 - 3 7017 c.6982G>A c.(6982-6984)Gag>Aag p.E2328K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2328 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGTGTCTCTCTCCTGCACTT 0.552000 Ichthyosis 660 848 0 0 0.014410 0 0 RETSAT 54884 broad.mit.edu 37 2 85578057 85578057 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:85578057G>A ENST00000295802.4 - 3 555 c.443C>T c.(442-444)cCc>cTc p.P148L RETSAT_ENST00000263854.6_Missense_Mutation_p.P148L|RETSAT_ENST00000457495.2_Missense_Mutation_p.P87L NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 148 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) AGAGGACAGGGGAGCCCAGTC 0.532000 48 59 0 0 0.013114 0 0 HTR1E 3354 broad.mit.edu 37 6 87725963 87725963 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:87725963G>T ENST00000305344.4 + 2 1614 c.911G>T c.(910-912)tGg>tTg p.W304L HTR1E_ENST00000369584.1_Missense_Mutation_p.W304L NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 304 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ATTTTATCCTGGCTGCCATTT 0.512000 81 166 6.47592e-44 1.75918e-43 0.014410 1 0 NLRC5 84166 broad.mit.edu 37 16 57111271 57111271 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:57111271G>T ENST00000262510.6 + 41 5124 c.4899G>T c.(4897-4899)ctG>ctT p.L1633L NLRC5_ENST00000539144.1_Silent_p.L1604L|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.L1604L NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1633 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGCCTGGGCTGCCAGAGCTCA 0.582000 29 51 1.06801e-11 2.05417e-11 0.009535 1 0 CDC14A 8556 broad.mit.edu 37 1 100928316 100928316 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:100928316C>T ENST00000336454.3 + 9 1072 c.717C>T c.(715-717)gaC>gaT p.D239D CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Silent_p.D239D|CDC14A_ENST00000370124.3_Silent_p.D239D|CDC14A_ENST00000542213.1_Silent_p.D181D|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000361544.6_Silent_p.D239D NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 239 B. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) GCTTCACAGACGCTGGCTTCG 0.473000 19 46 0 0 0.007413 0 0 OBSL1 23363 broad.mit.edu 37 2 220431754 220431754 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:220431754C>A ENST00000404537.1 - 5 1988 c.1932G>T c.(1930-1932)caG>caT p.Q644H OBSL1_ENST00000373873.4_Missense_Mutation_p.Q644H|OBSL1_ENST00000603926.1_Missense_Mutation_p.Q644H|OBSL1_ENST00000373876.1_Missense_Mutation_p.Q644H|OBSL1_ENST00000265318.4_Missense_Mutation_p.Q644H|OBSL1_ENST00000289656.3_Missense_Mutation_p.Q231H NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 644 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) ACCAGGTACCCTGGATGATGG 0.602000 26 37 7.33532e-06 1.27162e-05 0.003954 1 0 SNAP91 9892 broad.mit.edu 37 6 84269919 84269919 + Silent SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:84269919A>T ENST00000428679.2 - 28 3128 c.2535T>A c.(2533-2535)gcT>gcA p.A845A SNAP91_ENST00000437520.1_Silent_p.A538A|SNAP91_ENST00000521743.1_Silent_p.A845A|SNAP91_ENST00000521485.1_Silent_p.A840A|SNAP91_ENST00000195649.6_Silent_p.A840A|SNAP91_ENST00000520302.1_Silent_p.A815A|SNAP91_ENST00000369694.2_Silent_p.A845A|SNAP91_ENST00000520213.1_Silent_p.A538A|SNAP91_ENST00000439399.2_Silent_p.A845A O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 845 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TGCCTGTCCCAGCAGGAGGCT 0.542000 26 57 0 0 0.005443 0 0 DCTN4 51164 broad.mit.edu 37 5 150138543 150138543 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:150138543G>A ENST00000447998.2 - 1 128 c.13C>T c.(13-15)Ctg>Ttg p.L5L DCTN4_ENST00000446090.2_Silent_p.L5L NM_016221.3 NP_057305.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) 5 centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCGACTGCAGCAAGGACGCC 0.612000 69 50 0 0 0.014410 0 0 UCHL5 51377 broad.mit.edu 37 1 192985498 192985498 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:192985498C>A ENST00000367455.3 - 11 1208 c.973G>T c.(973-975)Gct>Tct p.A325S UCHL5_ENST00000367454.1_Missense_Mutation_p.A324S|UCHL5_ENST00000367451.4_Missense_Mutation_p.A351S NM_015984.3 NP_057068.1 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 325 Interaction with ADRM1. DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 GTTTCCTGAGCTTTCTTTGCG 0.284000 84 267 2.16659e-41 5.62459e-41 0.014410 1 0 TIGD7 91151 broad.mit.edu 37 16 3349590 3349590 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:3349590T>C ENST00000396862.1 - 2 2853 c.1025A>G c.(1024-1026)tAt>tGt p.Y342C TIGD7_ENST00000268674.2_Missense_Mutation_p.Y342C NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 342 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 CTTCCATCTATACAGCCGTTT 0.368000 30 95 0 0 0.007291 0 0 COL12A1 1303 broad.mit.edu 37 6 75813479 75813479 + Silent SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:75813479C>G ENST00000322507.8 - 55 8622 c.8313G>C c.(8311-8313)ggG>ggC p.G2771G COL12A1_ENST00000483888.2_Silent_p.G2771G|COL12A1_ENST00000416123.2_Silent_p.G2695G|COL12A1_ENST00000345356.6_Silent_p.G1607G NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2771 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTACAATTGCCCCACTGATAC 0.378000 9 37 0 0 0.008291 0 0 KEAP1 9817 broad.mit.edu 37 19 10602620 10602620 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:10602620G>A ENST00000171111.5 - 3 1505 c.958C>T c.(958-960)Cgg>Tgg p.R320W KEAP1_ENST00000393623.2_Missense_Mutation_p.R320W NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TTGGGCGCCCGGCAGGGCATC 0.642000 27 18 0 0 0.005443 0 0 USH2A 7399 broad.mit.edu 37 1 216497666 216497666 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:216497666C>A ENST00000366943.2 - 7 1558 c.1172G>T c.(1171-1173)aGt>aTt p.S391I USH2A_ENST00000366942.3_Missense_Mutation_p.S391I|USH2A_ENST00000307340.3_Missense_Mutation_p.S391I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 391 Laminin N-terminal. S -> I (in USH2A; uncertain pathogenicity). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGTTGTGGACTAAAGAACTG 0.318000 HNSCC(13;0.011) 11 48 2.80697e-09 5.15427e-09 0.010729 1 0 PDE10A 10846 broad.mit.edu 37 6 165842178 165842178 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:165842178C>A ENST00000366882.1 - 11 947 c.793G>T c.(793-795)Gtt>Ttt p.V265F PDE10A_ENST00000354448.4_Missense_Mutation_p.V265F|PDE10A_ENST00000539869.2_Missense_Mutation_p.V275F Q9Y233 PDE10_HUMAN phosphodiesterase 10A 265 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TCTATTGCAACTATGTTATCA 0.308000 11 23 1.58986e-06 2.77437e-06 0.008291 1 0 NR5A2 2494 broad.mit.edu 37 1 200012997 200012997 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:200012997C>A ENST00000367362.3 + 3 544 c.298C>A c.(298-300)Ctc>Atc p.L100I NR5A2_ENST00000236914.3_Missense_Mutation_p.L54I|NR5A2_ENST00000544748.1_Missense_Mutation_p.L28I NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 100 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CCATTATGGGCTCCTCACCTG 0.398000 24 46 1.85244e-09 3.42539e-09 0.003330 1 0 RNF219 79596 broad.mit.edu 37 13 79189773 79189773 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr13:79189773T>C ENST00000282003.6 - 6 2181 c.2123A>G c.(2122-2124)aAa>aGa p.K708R RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 708 Ser-rich. zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GATTTTTCTTTTTGTTGATTG 0.403000 46 196 0 0 0.014410 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168890 142168890 + RNA SNP C C T rs143671051 by1000genomes TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:142168890C>T ENST00000454561.2 - 0 155 GGGCTTGGTCCTCCTGGGGAA 0.592000 3 40 0 0 0.000602 0 0 PRDM8 56978 broad.mit.edu 37 4 81123121 81123121 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:81123121C>T ENST00000339711.4 + 10 1736 c.505C>T c.(505-507)Ccc>Tcc p.P169S PRDM8_ENST00000504452.1_Missense_Mutation_p.P169S|PRDM8_ENST00000415738.2_Missense_Mutation_p.P169S NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 GTTTGAGTTCCCCTATGTGGC 0.572000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 136 0 0 0.014410 0 0 ABCA12 26154 broad.mit.edu 37 2 215807686 215807686 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:215807686A>T ENST00000272895.7 - 50 7618 c.7399T>A c.(7399-7401)Ttt>Att p.F2467I ABCA12_ENST00000389661.4_Missense_Mutation_p.F2149I|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2467 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ATACATTGAAACTTTCCATTC 0.393000 28 51 0 0 0.008361 0 0 SEZ6L 23544 broad.mit.edu 37 22 26736548 26736548 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr22:26736548C>A ENST00000529632.2 + 10 2358 c.2162C>A c.(2161-2163)cCt>cAt p.P721H SEZ6L_ENST00000343706.4_Missense_Mutation_p.P721H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P721H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P721H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P494H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P494H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P721H NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 721 CUB 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CATTCGGACCCTGCTGGCCTC 0.488000 71 43 1.93348e-29 4.63155e-29 0.014410 1 0 GPR158 57512 broad.mit.edu 37 10 25887469 25887469 + Nonsense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:25887469A>T ENST00000376351.3 + 11 3273 c.2914A>T c.(2914-2916)Aaa>Taa p.K972* GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 972 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AAAGCCTCAGAAATCTGGGAT 0.463000 40 150 0 0 0.008740 0 0 ZNF675 171392 broad.mit.edu 37 19 23836246 23836246 + Missense_Mutation SNP T T C rs147297608 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:23836246T>C ENST00000359788.4 - 4 1657 c.1489A>G c.(1489-1491)Aca>Gca p.T497A ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 497 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CTTTTATGTGTAGTAAGGGAT 0.363000 30 24 0 0 0.010818 0 0 NYAP2 57624 broad.mit.edu 37 2 226446863 226446863 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:226446863G>A ENST00000272907.6 + 4 1143 c.730G>A c.(730-732)Gtg>Atg p.V244M NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 244 AGAGGAGCCCGTGTACATCGA 0.592000 14 309 0 0 0.004007 0 0 ZNF831 128611 broad.mit.edu 37 20 57768439 57768439 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:57768439G>T ENST00000371030.2 + 1 2365 c.2365G>T c.(2365-2367)Gcc>Tcc p.A789S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 789 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGAAGGAGGTGCCCGAGGTGT 0.662000 29 20 3.65163e-15 7.51722e-15 0.006320 1 0 OR2T11 127077 broad.mit.edu 37 1 248790195 248790195 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:248790195G>A ENST00000330803.2 - 1 296 c.235C>T c.(235-237)Ctg>Ttg p.L79L NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGTCTGCCAGGAGTTTTGGG 0.493000 46 34 0 0 0.013114 0 0 FAM71B 153745 broad.mit.edu 37 5 156589539 156589539 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:156589539A>G ENST00000302938.4 - 2 1832 c.1737T>C c.(1735-1737)ggT>ggC p.G579G NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 579 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCTCCTGGCCACCCTGGGCTT 0.478000 225 154 0 0 0.014410 0 0 NDST4 64579 broad.mit.edu 37 4 115769409 115769409 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:115769409C>A ENST00000264363.2 - 9 2580 c.1902G>T c.(1900-1902)caG>caT p.Q634H NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 634 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CATTAAAGAACTGAACTTCCT 0.328000 49 89 5.57489e-27 1.29999e-26 0.014410 1 0 IQGAP3 128239 broad.mit.edu 37 1 156532985 156532985 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:156532985C>T ENST00000361170.2 - 8 749 c.739G>A c.(739-741)Gtc>Atc p.V247I NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 247 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCTTGGTAGACGGCTGCCAGA 0.567000 47 290 0 0 0.013114 0 0 PCMTD2 55251 broad.mit.edu 37 20 62904813 62904813 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:62904813G>C ENST00000308824.6 + 6 1073 c.946G>C c.(946-948)Gag>Cag p.E316Q PCMTD2_ENST00000369758.3_Missense_Mutation_p.E289Q|PCMTD2_ENST00000266078.6_Missense_Mutation_p.E92Q|PCMTD2_ENST00000299468.7_Intron NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 316 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGACTTGGAAGAGGAACGGAG 0.537000 90 94 0 0 0.014410 0 0 CCDC88C 440193 broad.mit.edu 37 14 91770243 91770243 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr14:91770243T>C ENST00000389857.6 - 20 3523 c.3437A>G c.(3436-3438)aAg>aGg p.K1146R NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1146 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CTCCGTCTCCTTGGCCGTGTG 0.652000 68 38 0 0 0.014410 0 0 EEF2K 29904 broad.mit.edu 37 16 22262545 22262545 + Nonsense_Mutation SNP G G T rs148576611 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:22262545G>T ENST00000263026.5 + 6 994 c.520G>T c.(520-522)Gag>Tag p.E174* NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 174 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GCGCTACATCGAGCCCGTAGA 0.592000 29 145 7.26314e-15 1.4836e-14 0.007291 1 0 NLRP11 204801 broad.mit.edu 37 19 56300690 56300690 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:56300690C>A ENST00000443188.1 - 10 3299 c.2589G>T c.(2587-2589)agG>agT p.R863S NLRP11_ENST00000589093.1_Missense_Mutation_p.R863S|NLRP11_ENST00000592953.1_Missense_Mutation_p.R764S|NLRP11_ENST00000589824.2_Missense_Mutation_p.R809S|NLRP11_ENST00000360133.3_Missense_Mutation_p.R809S NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 863 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TCTCCAGGCTCCTCAGTTTTT 0.423000 96 116 1.43847e-43 3.88754e-43 0.014410 1 0 EGFLAM 133584 broad.mit.edu 37 5 38337723 38337723 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:38337723G>T ENST00000322350.5 + 2 545 c.199G>T c.(199-201)Ggg>Tgg p.G67W EGFLAM_ENST00000354891.3_Missense_Mutation_p.G67W NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 67 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TCCCATCCTTGGGTACACTGT 0.512000 9 8 0.000442599 0.000745207 0.006214 1 0 PALB2 79728 broad.mit.edu 37 16 23632700 23632700 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:23632700C>A ENST00000261584.4 - 10 3248 c.3096G>T c.(3094-3096)atG>atT p.M1032I CTD-2196E14.3_ENST00000561764.1_RNA NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 1032 Interaction with RAD51 and BRCA2. 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) CAATGTTGTTCATAATAGTAG 0.408000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 13 73 1.5739e-10 2.95176e-10 0.004007 1 0 DUSP9 1852 broad.mit.edu 37 X 152915633 152915633 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:152915633G>C ENST00000342782.3 + 4 1293 c.1028G>C c.(1027-1029)aGc>aCc p.S343T DUSP9_ENST00000370167.4_Missense_Mutation_p.S343T Q99956 DUS9_HUMAN dual specificity phosphatase 9 343 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTTGAGCGCAGCTTGCGGCTG 0.602000 142 43 0 0 0.014410 0 0 PTPRB 5787 broad.mit.edu 37 12 70956688 70956688 + Nonsense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:70956688G>T ENST00000334414.6 - 16 4148 c.4104C>A c.(4102-4104)taC>taA p.Y1368* PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Y1060*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Y1060*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.Y1150*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.Y1367*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Y1060*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Y1280* NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1150 Fibronectin type-III 16. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCACCATCTTGTACATTCTGC 0.453000 58 115 5.19286e-32 1.27285e-31 0.014410 1 0 PIP 5304 broad.mit.edu 37 7 142832325 142832325 + Nonsense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:142832325C>A ENST00000291009.3 + 2 174 c.134C>A c.(133-135)tCa>tAa p.S45* NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 45 extracellular region actin binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) ATTCCCAAGTCAGTACGTCCA 0.448000 13 17 6.31663e-08 1.13613e-07 0.003163 1 0 BPIFB4 149954 broad.mit.edu 37 20 31685467 31685467 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:31685467C>A ENST00000375483.3 + 11 1443 c.1443C>A c.(1441-1443)atC>atA p.I481I NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 481 cytoplasm|extracellular region lipid binding TCATCAGGATCCAGGTGCTGA 0.597000 93 122 8.92586e-32 2.16771e-31 0.014410 1 0 ACTC1 70 broad.mit.edu 37 15 35086900 35086900 + Missense_Mutation SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:35086900A>G ENST00000290378.4 - 2 765 c.110T>C c.(109-111)gTg>gCg p.V37A RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 37 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CGGGCGGCCCACGATGGACGG 0.687000 36 47 0 0 0.003271 0 0 PCDH17 27253 broad.mit.edu 37 13 58207981 58207981 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr13:58207981C>T ENST00000377918.3 + 1 1327 c.1301C>T c.(1300-1302)aCa>aTa p.T434I NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 434 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GACCGCGAGACACAAGACGAG 0.627000 19 73 0 0 0.014323 0 0 SNIP1 79753 broad.mit.edu 37 1 38019710 38019710 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:38019710G>A ENST00000296215.6 - 1 193 c.121C>T c.(121-123)Ccc>Tcc p.P41S SNIP1_ENST00000468040.1_Intron NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 41 production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) CGGTGGGCGGGAGGTGCGACT 0.741000 8 16 0 0 0.003080 0 0 MGAT5B 146664 broad.mit.edu 37 17 74902107 74902107 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:74902107T>C ENST00000569840.2 + 8 1437 c.863T>C c.(862-864)gTc>gCc p.V288A MGAT5B_ENST00000301618.4_Missense_Mutation_p.V288A|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.V299A NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 288 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAGATCCTGGTCCACATCGGC 0.692000 42 88 0 0 0.014410 0 0 SLC38A10 124565 broad.mit.edu 37 17 79225400 79225400 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:79225400G>A ENST00000374759.3 - 14 2341 c.1958C>T c.(1957-1959)cCc>cTc p.P653L SLC38A10_ENST00000288439.5_Missense_Mutation_p.P653L NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 653 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CGCTGGGAGGGGAGGCTTCCC 0.672000 7 31 0 0 0.006214 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256130 15256130 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:15256130C>A ENST00000378116.4 - 8 1463 c.1457G>T c.(1456-1458)aGg>aTg p.R486M NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 486 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GTAACTACCCCTGTAGTCATC 0.478000 41 125 2.95478e-19 6.4081e-19 0.008740 1 0 OR13G1 441933 broad.mit.edu 37 1 247836209 247836209 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:247836209G>A ENST00000359688.2 - 1 156 c.135C>T c.(133-135)gcC>gcT p.A45A RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TATAGATTTTGGCAATGATGA 0.438000 40 50 0 0 0.008740 0 0 CPXM2 119587 broad.mit.edu 37 10 125526525 125526525 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:125526525A>G ENST00000241305.3 - 10 1597 c.1443T>C c.(1441-1443)atT>atC p.I481I CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 481 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CAGGGATTGCAATATAGTGAT 0.453000 57 98 0 0 0.014410 0 0 TIAM1 7074 broad.mit.edu 37 21 32526706 32526706 + Missense_Mutation SNP A A C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr21:32526706A>C ENST00000286827.3 - 18 3501 c.3030T>G c.(3028-3030)caT>caG p.H1010Q TIAM1_ENST00000541036.1_Missense_Mutation_p.H950Q NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1010 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GGTTCATCTCATGCAAACTGC 0.572000 76 62 0 0 0.014410 0 0 SLC22A5 6584 broad.mit.edu 37 5 131705782 131705782 + Missense_Mutation SNP G G C rs148657753 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:131705782G>C ENST00000245407.3 + 1 339 c.118G>C c.(118-120)Gtg>Ctg p.V40L SLC22A5_ENST00000435065.2_Missense_Mutation_p.V40L NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 40 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CCTGTCCTCCGTGTTCCTGAT 0.687000 OREG0003451 type=REGULATORY REGION|Gene=BC043424|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 25 3 0 0 0.003954 0 0 SLC5A5 6528 broad.mit.edu 37 19 18001744 18001744 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:18001744C>A ENST00000222248.3 + 14 2048 c.1701C>A c.(1699-1701)ctC>ctA p.L567L NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 567 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGTGGGACCTCGCACGGCAGA 0.592000 123 61 2.34035e-62 6.66683e-62 0.014410 1 0 WDR60 55112 broad.mit.edu 37 7 158715218 158715218 + Missense_Mutation SNP A A C rs2730238 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:158715218A>C ENST00000407559.3 + 16 2230 c.2072A>C c.(2071-2073)aAa>aCa p.K691T NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 691 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GGGCCACAGAAAGTTCTGATA 0.552000 11 38 0 0 0.008291 0 0 GPR50 9248 broad.mit.edu 37 X 150349641 150349641 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:150349641C>A ENST00000218316.3 + 2 1655 c.1586C>A c.(1585-1587)cCt>cAt p.P529H NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 529 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) ACCAGCCACCCTAAGCCCACT 0.612000 89 25 2.39224e-78 6.96525e-78 0.014410 1 0 TUBGCP4 27229 broad.mit.edu 37 15 43663583 43663583 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:43663583G>A ENST00000564079.1 + 1 271 c.31G>A c.(31-33)Ggg>Agg p.G11R TUBGCP4_ENST00000570081.1_Intron|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.G11R NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 11 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) GGCTCTGAGCGGGTACCCTGG 0.652000 OREG0023087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 45 0 0 0.007291 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152668 50152668 + Missense_Mutation SNP C C A rs142334062 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:50152668C>A ENST00000284509.6 - 28 3443 c.3302G>T c.(3301-3303)cGc>cTc p.R1101L ATP8B4_ENST00000559829.1_Missense_Mutation_p.R1101L NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1101 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTGCCACCGGCGGATCTGGAG 0.498000 30 121 3.1745e-13 6.24239e-13 0.008361 1 0 LRRC7 57554 broad.mit.edu 37 1 70518799 70518799 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:70518799G>A ENST00000310961.5 + 23 4379 c.3961G>A c.(3961-3963)Gat>Aat p.D1321N LRRC7_ENST00000035383.5_Missense_Mutation_p.D1363N|LRRC7_ENST00000415775.2_Missense_Mutation_p.D647N Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1363 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TGGGAGGCGGGATGTACCTCC 0.393000 46 12 0 0 0.011902 0 0 PTDSS1 9791 broad.mit.edu 37 8 97311923 97311923 + Splice_Site SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:97311923T>A ENST00000517309.1 + 6 928 c.600_splice c.e6-1 p.L201_splice PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_5'UTR|PTDSS1_ENST00000455950.2_Splice_Site_p.L55_splice NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 201 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) GTTTCTCAGCTCTTCTTCATG 0.433000 57 253 0 0 0.014410 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75924706 75924706 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:75924706G>T ENST00000262207.4 + 3 765 c.297G>T c.(295-297)tgG>tgT p.W99C CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR|CRISPLD1_ENST00000519798.1_3'UTR NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 99 extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) CAGAATCCTGGGCTGAAAGTT 0.438000 58 92 3.30226e-22 7.37411e-22 0.014410 1 0 ARL6 84100 broad.mit.edu 37 3 97506897 97506897 + Missense_Mutation SNP T T G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:97506897T>G ENST00000463745.1 + 6 890 c.413T>G c.(412-414)gTg>gGg p.V138G ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.V138G|ARL6_ENST00000394206.1_Missense_Mutation_p.V138G NM_001278293.1 NP_001265222.1 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 138 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding large_intestine(1)|lung(4) 5 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) AGAGATGCAGTGACATCTGTA 0.323000 29 42 0 0 0.006320 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010492 59010492 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:59010492G>T ENST00000263093.2 - 8 1872 c.1763C>A c.(1762-1764)cCa>cAa p.P588Q SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.P504Q|SLC27A5_ENST00000594786.1_5'UTR NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 588 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 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;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CTCCGCACCTGGCACGCACAC 0.552000 39 49 2.35958e-20 5.18125e-20 0.009718 1 0 KIF19 124602 broad.mit.edu 37 17 72348161 72348161 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:72348161G>C ENST00000599136.1 - 1 110 c.111C>G c.(109-111)tgC>tgG p.C37W KIF19_ENST00000389916.4_Silent_p.S581S AGATGCAGTCGCACGCGCTGC 0.711000 5 8 0 0 0.001168 0 0 KIAA1109 84162 broad.mit.edu 37 4 123094284 123094284 + Missense_Mutation SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:123094284A>G ENST00000264501.4 + 4 564 c.191A>G c.(190-192)tAc>tGc p.Y64C KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y64C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y64C Q2LD37 K1109_HUMAN KIAA1109 64 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AACAGATTATACAAGCATGGC 0.323000 68 117 0 0 0.014410 0 0 LRRC4 64101 broad.mit.edu 37 7 127670542 127670542 + Nonsense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:127670542G>T ENST00000249363.3 - 2 409 c.152C>A c.(151-153)tCg>tAg p.S51* SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 51 LRRNT. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GTTACTGCACGAGCAGACGGA 0.647000 79 92 7.63117e-38 1.93348e-37 0.014410 1 0 RGPD4 285190 broad.mit.edu 37 2 108487939 108487939 + Missense_Mutation SNP T T G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:108487939T>G ENST00000408999.3 + 20 3556 c.3479T>G c.(3478-3480)tTc>tGc p.F1160C RGPD4_ENST00000354986.4_Missense_Mutation_p.F1160C NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1160 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GCTGAAGAATTCAAGCAGAAA 0.438000 14 217 0 0 0.001855 0 0 CHST6 4166 broad.mit.edu 37 16 75513122 75513122 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:75513122C>A ENST00000332272.4 - 3 784 c.605G>T c.(604-606)cGc>cTc p.R202L RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R202L NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 202 R -> S (in MCD). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CCGCGGGTCGCGCACCAGGTG 0.687000 46 58 8.01111e-26 1.83559e-25 0.010771 1 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 3 79 0 0 0.004672 0 0 PSG2 5670 broad.mit.edu 37 19 43579759 43579759 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:43579759G>A ENST00000406487.1 - 3 554 c.456C>T c.(454-456)tcC>tcT p.S152S NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 152 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) AGTTGCTGCTGGAGATGGAGG 0.498000 78 313 0 0 0.014410 0 0 SLC9C2 284525 broad.mit.edu 37 1 173493964 173493964 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:173493964C>A ENST00000367714.3 - 20 2890 c.2468G>T c.(2467-2469)tGt>tTt p.C823F SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 823 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GCCTCTTGAACAAAGGAAGGT 0.398000 44 152 9.39024e-22 2.08804e-21 0.009718 1 0 MOGAT2 80168 broad.mit.edu 37 11 75438556 75438556 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:75438556G>T ENST00000526712.1 + 2 874 c.101G>T c.(100-102)gGa>gTa p.G34V MOGAT2_ENST00000198801.5_Missense_Mutation_p.G116V Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 116 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) CTGGCAGTCGGAGCCTTTGCC 0.617000 33 92 5.8336e-16 1.21036e-15 0.003271 1 0 CTNND2 1501 broad.mit.edu 37 5 11384809 11384809 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:11384809G>A ENST00000304623.8 - 7 1334 c.1145C>T c.(1144-1146)aCg>aTg p.T382M CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.T382M|CTNND2_ENST00000511377.1_Missense_Mutation_p.T291M|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 382 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GAGGGTGGCCGTGGCATACAG 0.701000 10 19 0 0 0.010729 0 0 SEC1P 653677 broad.mit.edu 37 19 49183484 49183484 + RNA SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:49183484G>A ENST00000430145.2 + 0 571 NR_004401.2 AGGGCCGCCTGGGGAACCAGA 0.682000 8 11 0 0 0.004482 0 0 RNMT 8731 broad.mit.edu 37 18 13737009 13737009 + Splice_Site SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr18:13737009G>T ENST00000383314.2 + 5 794 c.553_splice c.e5-1 p.G185_splice RNMT_ENST00000589866.1_Splice_Site_p.G185_splice|RNMT_ENST00000592764.1_Splice_Site_p.G185_splice|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Splice_Site_p.G185_splice|RNMT_ENST00000262173.3_Splice_Site_p.G185_splice O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 185 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 TCTCTTTTAGGAGAATTTTTG 0.348000 21 42 1.96292e-10 3.65534e-10 0.010504 1 0 RASSF2 9770 broad.mit.edu 37 20 4768901 4768901 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:4768901G>T ENST00000379400.3 - 9 848 c.653C>A c.(652-654)gCa>gAa p.A218E RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.A218E NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 218 Ras-associating. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 AAACTCCTCTGCTGAATTCTC 0.378000 67 71 7.33394e-39 1.88536e-38 0.014410 1 0 NR1H4 9971 broad.mit.edu 37 12 100904815 100904815 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:100904815C>A ENST00000548884.1 + 4 880 c.339C>A c.(337-339)cgC>cgA p.R113R NR1H4_ENST00000392986.3_Silent_p.R113R|NR1H4_ENST00000551379.1_Silent_p.R123R|NR1H4_ENST00000188403.7_Silent_p.R123R|NR1H4_ENST00000549996.1_Silent_p.R113R NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 123 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 AGAAGCCCCGCATGGGCGCGT 0.527000 53 122 2.48254e-18 5.34e-18 0.014410 1 0 PTPRH 5794 broad.mit.edu 37 19 55693405 55693405 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:55693405C>A ENST00000376350.3 - 19 3199 c.3177G>T c.(3175-3177)cgG>cgT p.R1059R PTPRH_ENST00000263434.5_Silent_p.R881R NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1059 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CCATCAACGGCCGACTCTCTC 0.632000 73 100 5.88917e-42 1.55959e-41 0.014410 1 0 RTN3 10313 broad.mit.edu 37 11 63449190 63449190 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:63449190G>T ENST00000377819.5 + 1 236 c.82G>T c.(82-84)Ggc>Tgc p.G28C RTN3_ENST00000341307.2_Missense_Mutation_p.G28C|RTN3_ENST00000540798.1_Missense_Mutation_p.G28C|RTN3_ENST00000537981.1_Missense_Mutation_p.G28C|RTN3_ENST00000354497.4_Missense_Mutation_p.G28C|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000339997.4_Missense_Mutation_p.G28C|RTN3_ENST00000356000.3_Missense_Mutation_p.G28C NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 28 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 GCCCGGCGGCGGCGGGAGCCC 0.746000 12 13 1.15088e-07 2.05597e-07 0.004007 1 0 BNC2 54796 broad.mit.edu 37 9 16727855 16727855 + Silent SNP T T A rs79432515 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr9:16727855T>A ENST00000380672.4 - 3 327 c.270A>T c.(268-270)ccA>ccT p.P90P BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron|BNC2_ENST00000380666.2_Silent_p.P90P NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CCATGAACCCTGGTTCAGCCG 0.423000 62 171 0 0 0.014410 0 0 AHCYL2 23382 broad.mit.edu 37 7 129043237 129043237 + Silent SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:129043237G>C ENST00000325006.3 + 7 990 c.936G>C c.(934-936)ggG>ggC p.G312G AHCYL2_ENST00000474594.1_Silent_p.G209G|AHCYL2_ENST00000531335.2_Silent_p.G231G|AHCYL2_ENST00000446212.1_Silent_p.G210G|AHCYL2_ENST00000446544.2_Silent_p.G311G|AHCYL2_ENST00000490911.1_Silent_p.G209G NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 312 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 ATGATGGAGGGGATCTTACCC 0.408000 93 118 0 0 0.014410 0 0 USH2A 7399 broad.mit.edu 37 1 216166400 216166400 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:216166400G>T ENST00000366943.2 - 35 7153 c.6767C>A c.(6766-6768)tCc>tAc p.S2256Y USH2A_ENST00000307340.3_Missense_Mutation_p.S2256Y O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2256 Fibronectin type-III 9. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GACATTAAAGGAGTCAGGTGA 0.473000 HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 319 364 6.11876e-135 1.83215e-134 0.014410 1 0 ABI3 51225 broad.mit.edu 37 17 47299962 47299962 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:47299962T>A ENST00000225941.1 + 8 1484 c.986T>A c.(985-987)tTc>tAc p.F329Y ABI3_ENST00000419580.2_Missense_Mutation_p.F323Y NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 329 SH3. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) GAGCTCTCCTTCTCTGAGGGC 0.577000 HNSCC(55;0.14) 23 65 0 0 0.014323 0 0 PKHD1 5314 broad.mit.edu 37 6 51483892 51483892 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:51483892T>C ENST00000371117.3 - 67 12487 c.12212A>G c.(12211-12213)cAg>cGg p.Q4071R RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.1_RNA NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 4071 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CAGTTGCTCCTGAATAGTTTC 0.517000 3 132 0 0 0.009096 0 0 NKX3-2 579 broad.mit.edu 37 4 13543927 13543927 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:13543927A>T ENST00000382438.5 - 2 1327 c.692T>A c.(691-693)cTg>cAg p.L231Q NM_001189.3 NP_001180.1 P78367 NKX32_HUMAN NK3 homeobox 2 231 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 GGGCCCGGACAGGTAGCGCTG 0.672000 7 14 0 0 0.001984 0 0 ZBTB10 65986 broad.mit.edu 37 8 81399761 81399761 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:81399761C>A ENST00000430430.1 + 2 1495 c.716C>A c.(715-717)cCc>cAc p.P239H ZBTB10_ENST00000426744.2_Missense_Mutation_p.P239H|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Missense_Mutation_p.P239H NM_001277145.1 NP_001264074.1 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 239 transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4) 20 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) CTCGCGCGGCCCAAGTCTCTA 0.617000 8 8 0.00307968 0.00511984 0.003080 1 0 CRISPLD1 83690 broad.mit.edu 37 8 75924705 75924705 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:75924705G>T ENST00000262207.4 + 3 764 c.296G>T c.(295-297)tGg>tTg p.W99L CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR|CRISPLD1_ENST00000519798.1_3'UTR NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 99 extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) GCAGAATCCTGGGCTGAAAGT 0.443000 58 96 5.86059e-21 1.29227e-20 0.014410 1 0 LRRC66 339977 broad.mit.edu 37 4 52861367 52861367 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:52861367C>A ENST00000343457.3 - 4 1827 c.1821G>T c.(1819-1821)ggG>ggT p.G607G NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 607 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GTTCAGTGCCCCCTCTTTCCT 0.463000 33 174 9.65021e-13 1.89058e-12 0.010818 1 0 PTPRH 5794 broad.mit.edu 37 19 55693406 55693406 + Missense_Mutation SNP C C A rs145661468 byFrequency TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:55693406C>A ENST00000376350.3 - 19 3198 c.3176G>T c.(3175-3177)cGg>cTg p.R1059L PTPRH_ENST00000263434.5_Missense_Mutation_p.R881L NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1059 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CATCAACGGCCGACTCTCTCT 0.632000 73 100 5.88917e-42 1.55959e-41 0.014410 1 0 N4BP2 55728 broad.mit.edu 37 4 40122701 40122701 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:40122701A>G ENST00000261435.6 + 9 3386 c.2970A>G c.(2968-2970)gtA>gtG p.V990V NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 990 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 CTGGAGTAGTAGAACCACAAA 0.448000 26 111 0 0 0.006320 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603356 140603356 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:140603356C>A ENST00000239449.4 + 1 279 c.279C>A c.(277-279)gaC>gaA p.D93E PCDHB14_ENST00000515856.2_Intron NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 93 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGACCGAGACGAGCTGTGTG 0.448000 147 119 9.53643e-70 2.74628e-69 0.014410 1 0 ZNF678 339500 broad.mit.edu 37 1 227838768 227838768 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:227838768G>T ENST00000343776.4 + 3 421 c.76G>T c.(76-78)Gtt>Ttt p.V26F ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Intron F5GXA7 F5GXA7_HUMAN zinc finger protein 678 81 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) ttataaactggtttatacagg 0.383000 133 288 2.44662e-51 6.75062e-51 0.014410 1 0 AASS 10157 broad.mit.edu 37 7 121758465 121758465 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:121758465C>A ENST00000393376.1 - 5 678 c.583G>T c.(583-585)Gtg>Ttg p.V195L AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.V195L Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 195 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) ACAGCTTGCACAGCCTGACTG 0.408000 61 70 7.82978e-24 1.75587e-23 0.014410 1 0 CSMD3 114788 broad.mit.edu 37 8 113668416 113668416 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:113668416G>C ENST00000297405.5 - 18 3215 c.2971C>G c.(2971-2973)Cgt>Ggt p.R991G CSMD3_ENST00000352409.3_Missense_Mutation_p.R991G|CSMD3_ENST00000455883.2_Missense_Mutation_p.R887G|CSMD3_ENST00000343508.3_Missense_Mutation_p.R951G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 991 CUB 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTATTGGAACGACTGTTGTCT 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 105 0 0 0.006230 0 0 ARAP2 116984 broad.mit.edu 37 4 36148964 36148964 + Nonsense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:36148964G>A ENST00000303965.4 - 19 3706 c.3217C>T c.(3217-3219)Caa>Taa p.Q1073* NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1073 PH 4. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCCCCATTTTGAACCATTGTG 0.353000 211 120 0 0 0.014410 0 0 PTCH2 8643 broad.mit.edu 37 1 45294203 45294203 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:45294203G>A ENST00000447098.2 - 12 1576 c.1565C>T c.(1564-1566)cCt>cTt p.P522L PTCH2_ENST00000372192.3_Missense_Mutation_p.P522L NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 522 SSD. protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TCGCAGCGCAGGGATGGGAAC 0.632000 Basal Cell Nevus syndrome 26 14 0 0 0.004656 0 0 TARBP2 6895 broad.mit.edu 37 12 53899526 53899526 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:53899526C>A ENST00000266987.2 + 8 1318 c.835C>A c.(835-837)Ctc>Atc p.L279I TARBP2_ENST00000456234.2_Missense_Mutation_p.L258I|TARBP2_ENST00000394357.2_Missense_Mutation_p.L258I|TARBP2_ENST00000552857.1_Missense_Mutation_p.P145H NM_134323.1 NP_599150.1 Q15633 TRBP2_HUMAN TAR (HIV-1) RNA binding protein 2 279 Sufficient for interaction with DICER1. miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3) 10 GATCCTGTCCCTCCGCAGTTG 0.617000 8 297 0.00307968 0.00511984 0.003080 1 0 DPEP2 64174 broad.mit.edu 37 16 68024723 68024723 + Splice_Site SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:68024723C>A ENST00000412757.2 - 8 1575 c.e8+1 DPEP2_ENST00000572888.1_Splice_Site|DPEP2_ENST00000393847.1_Splice_Site Q9H4A9 DPEP2_HUMAN dipeptidase 2 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) CAGTTTCTCACCAGAAGCTGC 0.572000 171 188 9.33601e-71 2.70334e-70 0.014410 1 0 SLC6A15 55117 broad.mit.edu 37 12 85279240 85279240 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:85279240G>T ENST00000450363.3 - 4 1006 c.548C>A c.(547-549)cCt>cAt p.P183H SLC6A15_ENST00000266682.5_Missense_Mutation_p.P183H|SLC6A15_ENST00000552192.1_Missense_Mutation_p.P76H|SLC6A15_ENST00000551388.1_Intron NM_018057.6 NP_060527.2 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 183 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TTTCACCAAAGGACACTGATC 0.373000 56 90 6.3091e-27 1.46471e-26 0.014410 1 0 STAB2 55576 broad.mit.edu 37 12 104133198 104133198 + Silent SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:104133198T>C ENST00000388887.2 + 54 5910 c.5706T>C c.(5704-5706)tgT>tgC p.C1902C NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1902 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGGGGAGTGTGGGAGCTGTG 0.413000 16 114 0 0 0.004007 0 0 PDE9A 5152 broad.mit.edu 37 21 44192569 44192569 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr21:44192569C>T ENST00000291539.6 + 19 1767 c.1707C>T c.(1705-1707)agC>agT p.S569S PDE9A_ENST00000398225.3_Silent_p.S528S|PDE9A_ENST00000398234.3_Silent_p.S468S|PDE9A_ENST00000398236.3_Silent_p.S483S|PDE9A_ENST00000539837.1_Silent_p.S441S|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398227.3_Silent_p.S409S|PDE9A_ENST00000398224.3_Silent_p.S442S|PDE9A_ENST00000328862.6_Silent_p.S543S|PDE9A_ENST00000349112.3_Silent_p.S441S|PDE9A_ENST00000335440.6_Silent_p.S467S|PDE9A_ENST00000380328.2_Silent_p.S516S|PDE9A_ENST00000398232.3_Silent_p.S502S|PDE9A_ENST00000398229.3_Silent_p.S435S|PDE9A_ENST00000335512.4_Silent_p.S509S NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 569 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 AGACTGACAGCTTGACGTCTG 0.532000 10 5 0 0 0.013537 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118202577 118202577 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:118202577C>A ENST00000369230.3 + 3 361 c.215C>A c.(214-216)gCg>gAg p.A72E NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 72 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) GAGATCAGTGCGGTTAATTCT 0.363000 10 16 0.000442599 0.000745207 0.006214 1 0 CCNE2 9134 broad.mit.edu 37 8 95897326 95897326 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:95897326T>A ENST00000520509.1 - 9 1052 c.800A>T c.(799-801)tAt>tTt p.Y267F CCNE2_ENST00000308108.4_Missense_Mutation_p.Y267F|CCNE2_ENST00000396133.3_Missense_Mutation_p.Y267F O96020 CCNE2_HUMAN cyclin E2 267 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TTCCTGAGAATACTGAGGTAG 0.323000 22 74 0 0 0.012319 0 0 CPS1 1373 broad.mit.edu 37 2 211456679 211456679 + Missense_Mutation SNP G G A rs149930500 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:211456679G>A ENST00000233072.5 + 10 1268 c.1072G>A c.(1072-1074)Gat>Aat p.D358N CPS1_ENST00000430249.2_Missense_Mutation_p.D364N NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 358 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GAATGTCAACGATCAAACAAA 0.378000 41 56 0 0 0.008740 0 0 BIRC7 79444 broad.mit.edu 37 20 61870819 61870819 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:61870819G>T ENST00000217169.3 + 6 973 c.759G>T c.(757-759)aaG>aaT p.K253N BIRC7_ENST00000342412.6_Missense_Mutation_p.K235N|BIRC7_ENST00000395306.1_Missense_Mutation_p.K148N NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 253 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) GGACGTGCAAGGTGTGCCTGG 0.692000 19 126 3.32936e-07 5.92761e-07 0.006122 1 0 SUCLG1 8802 broad.mit.edu 37 2 84668224 84668224 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:84668224C>A ENST00000393868.2 - 5 746 c.536G>T c.(535-537)gGa>gTa p.G179V NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 179 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) TTTACATTCTCCAGGCTGAAA 0.348000 23 69 4.7796e-09 8.71575e-09 0.004656 1 0 SCN3A 6328 broad.mit.edu 37 2 165987787 165987787 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:165987787C>A ENST00000360093.3 - 16 3023 c.2532G>T c.(2530-2532)gtG>gtT p.V844V SCN3A_ENST00000409101.3_Silent_p.V795V|SCN3A_ENST00000283254.7_Silent_p.V844V NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 844 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ACAATCCCTCCACATTTGACA 0.368000 58 165 1.12612e-26 2.60291e-26 0.014410 1 0 CDH22 64405 broad.mit.edu 37 20 44839121 44839121 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:44839121C>A ENST00000372262.3 - 6 1511 c.1111G>T c.(1111-1113)Gac>Tac p.D371Y CDH22_ENST00000537909.1_Missense_Mutation_p.D371Y|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 371 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GTGCCCAGGTCGGCGAAGCGG 0.711000 14 32 7.93312e-07 1.40766e-06 0.002450 1 0 DSPP 1834 broad.mit.edu 37 4 88535365 88535365 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:88535365C>G ENST00000399271.1 + 5 1671 c.1551C>G c.(1549-1551)agC>agG p.S517R DSPP_ENST00000282478.7_Missense_Mutation_p.S517R|RP11-742B18.1_ENST00000506480.1_RNA NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 517 Asp/Ser-rich. biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) ACAGTGATAGCACATCAGACA 0.403000 16 41 0 0 0.004007 0 0 BAIAP3 8938 broad.mit.edu 37 16 1395019 1395019 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:1395019C>T ENST00000324385.5 + 21 2122 c.1964C>T c.(1963-1965)aCc>aTc p.T655I BAIAP3_ENST00000397489.1_Missense_Mutation_p.T637I|BAIAP3_ENST00000426824.3_Missense_Mutation_p.T620I|BAIAP3_ENST00000562208.1_Missense_Mutation_p.T597I|BAIAP3_ENST00000397488.2_Missense_Mutation_p.T637I|BAIAP3_ENST00000421665.2_Missense_Mutation_p.T584I|BAIAP3_ENST00000568887.1_Missense_Mutation_p.T592I NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 655 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CCCAAGATGACCCTGGAGGTG 0.657000 41 54 0 0 0.008740 0 0 CSMD3 114788 broad.mit.edu 37 8 113293408 113293408 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:113293408C>G ENST00000297405.5 - 59 9747 c.9503G>C c.(9502-9504)tGt>tCt p.C3168S CSMD3_ENST00000352409.3_Missense_Mutation_p.C3098S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2999S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3128S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3168 Sushi 23. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTTACTTGTACAGTTAGGTAA 0.318000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 65 0 0 0.003954 0 0 LRRC30 339291 broad.mit.edu 37 18 7231504 7231504 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr18:7231504T>A ENST00000383467.2 + 1 382 c.368T>A c.(367-369)tTt>tAt p.F123Y NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 123 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 AAGGTCCTGTTTGTCAACATG 0.597000 24 54 0 0 0.014323 0 0 SUMF1 285362 broad.mit.edu 37 3 4459759 4459759 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:4459759C>A ENST00000272902.5 - 5 695 c.660G>T c.(658-660)tgG>tgT p.W220C SUMF1_ENST00000534863.1_Missense_Mutation_p.W220C|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000405420.2_Missense_Mutation_p.W220C|SUMF1_ENST00000383843.5_Missense_Mutation_p.W195C NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 220 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) GCTTCCCTGCCCAAGTGCAGT 0.502000 108 69 1.09905e-38 2.81164e-38 0.014410 1 0 PWP2 5822 broad.mit.edu 37 21 45544482 45544482 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr21:45544482C>T ENST00000291576.7 + 15 1966 c.1839C>T c.(1837-1839)taC>taT p.Y613Y NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 613 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CCCTGTGCTACTCTGCAGACG 0.562000 21 52 0 0 0.003330 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 83 0 0 0.000602 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913138 77913138 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:77913138A>G ENST00000321110.1 - 2 1075 c.780T>C c.(778-780)agT>agC p.S260S NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 260 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 CTCTCATGTAACTATACAGCT 0.507000 5 16 0 0 0.000602 0 0 FNIP2 57600 broad.mit.edu 37 4 159790038 159790038 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:159790038G>C ENST00000264433.6 + 13 2325 c.2250G>C c.(2248-2250)gaG>gaC p.E750D FNIP2_ENST00000379346.3_Missense_Mutation_p.E773D NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 750 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) CCTCCTTGGAGGCCAGTGAGG 0.517000 38 81 0 0 0.003755 0 0 CRISP2 7180 broad.mit.edu 37 6 49666177 49666177 + Silent SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:49666177A>T ENST00000339139.4 - 7 551 c.315T>A c.(313-315)acT>acA p.T105T NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 105 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AAGACCAGGAAGTAGGGTCAC 0.413000 23 104 0 0 0.003330 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540303 133540303 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:133540303G>C ENST00000409261.1 - 14 4454 c.4081C>G c.(4081-4083)Cag>Gag p.Q1361E NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q1361E NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1361 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTCCCATGCTGACTGCTGAAG 0.617000 34 75 0 0 0.012213 0 0 CAMKK2 10645 broad.mit.edu 37 12 121701685 121701685 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:121701685C>A ENST00000324774.5 - 6 1511 c.683G>T c.(682-684)gGc>gTc p.G228V CAMKK2_ENST00000337174.3_Missense_Mutation_p.G228V|CAMKK2_ENST00000392473.2_Missense_Mutation_p.G228V|CAMKK2_ENST00000538733.1_Missense_Mutation_p.G228V|CAMKK2_ENST00000446440.2_Missense_Mutation_p.G228V|CAMKK2_ENST00000392474.2_Missense_Mutation_p.G228V|CAMKK2_ENST00000412367.2_Missense_Mutation_p.G228V|CAMKK2_ENST00000347034.2_Missense_Mutation_p.G228V|CAMKK2_ENST00000404169.3_Missense_Mutation_p.G228V|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000402834.4_Missense_Mutation_p.G228V NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 228 Protein kinase. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTCAATGGGGCCCCTGGGCTG 0.607000 34 49 1.22384e-17 2.60065e-17 0.013726 1 0 AHNAK 79026 broad.mit.edu 37 11 62292534 62292534 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:62292534C>T ENST00000378024.4 - 5 9629 c.9355G>A c.(9355-9357)Gac>Aac p.D3119N AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3119 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ACTTTCATGTCACCTTCCACT 0.478000 47 564 0 0 0.014410 0 0 TRIML1 339976 broad.mit.edu 37 4 189060808 189060808 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:189060808G>T ENST00000332517.3 + 1 236 c.96G>T c.(94-96)ggG>ggT p.G32G NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 32 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCGAGTGTGGGCACAGCTTTT 0.517000 68 192 7.1157e-29 1.69682e-28 0.014410 1 0 PTPRT 11122 broad.mit.edu 37 20 40730911 40730911 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:40730911C>A ENST00000373198.3 - 27 3868 c.3633G>T c.(3631-3633)gtG>gtT p.V1211V PTPRT_ENST00000373184.1_Silent_p.V1199V|PTPRT_ENST00000373193.3_Silent_p.V1192V|PTPRT_ENST00000373201.1_Silent_p.V1179V|PTPRT_ENST00000373190.1_Silent_p.V1188V|PTPRT_ENST00000356100.2_Silent_p.V1198V|PTPRT_ENST00000373187.1_Silent_p.V1189V NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1189 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCTCGGGCCGCACACGGGGTG 0.562000 18 80 1.67942e-08 3.0519e-08 0.006122 1 0 OSBPL1A 114876 broad.mit.edu 37 18 21747356 21747356 + Silent SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr18:21747356T>C ENST00000319481.3 - 25 2678 c.2472A>G c.(2470-2472)gtA>gtG p.V824V OSBPL1A_ENST00000357041.4_Silent_p.V442V|OSBPL1A_ENST00000399443.3_Silent_p.V311V NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 824 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) GGATAATGAATACACTTTCAG 0.463000 47 97 0 0 0.014410 0 0 SPDEF 25803 broad.mit.edu 37 6 34506078 34506078 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:34506078G>A ENST00000374037.3 - 6 1395 c.981C>T c.(979-981)ctC>ctT p.L327L SPDEF_ENST00000544425.1_Silent_p.L311L NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 327 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 ACTGGTAGACGAGGCGCTGGG 0.632000 37 141 0 0 0.009718 0 0 INO80 54617 broad.mit.edu 37 15 41361779 41361779 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:41361779G>C ENST00000361937.3 - 14 2195 c.1771C>G c.(1771-1773)Cct>Gct p.P591A INO80_ENST00000401393.3_Missense_Mutation_p.P591A Q9ULG1 INO80_HUMAN INO80 complex subunit 591 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TTAAATTTAGGAACAAATCTA 0.348000 25 31 0 0 0.004656 0 0 CPSF1 29894 broad.mit.edu 37 8 145622562 145622562 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:145622562G>T ENST00000349769.3 - 23 2546 c.2452C>A c.(2452-2454)Ctt>Att p.L818I NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 818 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CTGTCCACAAGGACCCGCTGC 0.662000 5 6 1.6384e-10 3.06183e-10 0.001984 1 0 KCNK18 338567 broad.mit.edu 37 10 118969418 118969418 + Nonsense_Mutation SNP G G T rs3026042 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:118969418G>T ENST00000334549.1 + 3 763 c.763G>T c.(763-765)Gaa>Taa p.E255* NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 255 E -> K (in dbSNP:rs3026042). integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CTCGTGTCCCGAACTGGTGTT 0.532000 68 109 2.36135e-34 5.84241e-34 0.014410 1 0 ATP8B4 79895 broad.mit.edu 37 15 50152670 50152670 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:50152670G>A ENST00000284509.6 - 28 3441 c.3300C>T c.(3298-3300)atC>atT p.I1100I ATP8B4_ENST00000559829.1_Silent_p.I1100I NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1100 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GCCACCGGCGGATCTGGAGAG 0.498000 30 119 0 0 0.006320 0 0 COL12A1 1303 broad.mit.edu 37 6 75825638 75825638 + Splice_Site SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:75825638C>A ENST00000322507.8 - 49 7868 c.7558_splice c.e49-1 p.G2520_splice COL12A1_ENST00000483888.2_Splice_Site_p.G2520_splice|COL12A1_ENST00000416123.2_Splice_Site_p.G2520_splice|COL12A1_ENST00000345356.6_Splice_Site_p.G1356_splice NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2520 Nonhelical region (NC3).|TSP N-terminal. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CATTTTAAAACCTTTACATCA 0.338000 29 56 5.77227e-19 1.24672e-18 0.008361 1 0 MDFI 4188 broad.mit.edu 37 6 41621193 41621193 + Silent SNP C C A rs141575722 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:41621193C>A ENST00000373050.4 + 4 625 c.438C>A c.(436-438)ggC>ggA p.G146G Q99750 MDFI_HUMAN MyoD family inhibitor 207 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) GTGGCTCTGGCGAGTGTGCCG 0.657000 43 132 3.54561e-26 8.15954e-26 0.009718 1 0 PTDSS1 9791 broad.mit.edu 37 8 97311924 97311924 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:97311924C>A ENST00000517309.1 + 6 929 c.603C>A c.(601-603)ctC>ctA p.L201L PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_5'UTR|PTDSS1_ENST00000455950.2_Silent_p.L55L NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 201 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TTTCTCAGCTCTTCTTCATGC 0.438000 59 250 8.81991e-31 2.12242e-30 0.014410 1 0 MTPAP 55149 broad.mit.edu 37 10 30615475 30615475 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:30615475C>G ENST00000358107.4 - 6 1259 c.1260G>C c.(1258-1260)gaG>gaC p.E420D MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.E290D Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 290 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 GGTCAAGGCACTCTCCTAACA 0.443000 125 169 0 0 0.014410 0 0 PTPRT 11122 broad.mit.edu 37 20 40743842 40743842 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:40743842C>A ENST00000373198.3 - 23 3397 c.3162G>T c.(3160-3162)caG>caT p.Q1054H PTPRT_ENST00000373184.1_Missense_Mutation_p.Q1042H|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q1035H|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q1022H|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q1031H|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q1041H|PTPRT_ENST00000373187.1_Missense_Mutation_p.Q1032H NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1032 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGCTTACCTTCTGGACTGTGA 0.527000 29 94 8.4185e-14 1.68051e-13 0.012213 1 0 PYCRL 65263 broad.mit.edu 37 8 144687961 144687961 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:144687961A>T ENST00000220966.6 - 6 799 c.770T>A c.(769-771)cTc>cAc p.L257H PYCRL_ENST00000377579.3_Missense_Mutation_p.L108H|PYCRL_ENST00000495276.1_5'UTR NM_023078.3 NP_075566.2 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 245 proline biosynthetic process pyrroline-5-carboxylate reductase activity central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CAGGGCGTGGAGTCCATAGAT 0.682000 19 104 0 0 0.010504 0 0 NOS2 4843 broad.mit.edu 37 17 26114788 26114788 + Missense_Mutation SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:26114788C>G ENST00000313735.6 - 5 616 c.383G>C c.(382-384)gGa>gCa p.G128A NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 128 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GTCCCTGGGTCCTCTGGTCAA 0.498000 138 150 0 0 0.014410 0 0 TRPC4 7223 broad.mit.edu 37 13 38266181 38266181 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr13:38266181G>T ENST00000379705.3 - 4 2046 c.1189C>A c.(1189-1191)Cca>Aca p.P397T TRPC4_ENST00000447043.1_Missense_Mutation_p.P397T|TRPC4_ENST00000426868.2_Missense_Mutation_p.P397T|TRPC4_ENST00000379679.1_Missense_Mutation_p.P224T|TRPC4_ENST00000355779.2_Missense_Mutation_p.P397T|TRPC4_ENST00000379673.2_Missense_Mutation_p.P397T|TRPC4_ENST00000379681.3_Missense_Mutation_p.P397T|TRPC4_ENST00000358477.2_Missense_Mutation_p.P397T|TRPC4_ENST00000338947.5_Missense_Mutation_p.P224T Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 397 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GTTGGTGGTGGACCTTGCCTG 0.438000 91 48 6.00224e-42 1.57372e-41 0.014410 1 0 CDH22 64405 broad.mit.edu 37 20 44869744 44869744 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:44869744C>A ENST00000372262.3 - 2 808 c.408G>T c.(406-408)cgG>cgT p.R136R CDH22_ENST00000537909.1_Silent_p.R136R NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 136 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GAGCCTGGGCCCGCAGCGTGT 0.622000 24 93 7.07758e-08 1.26867e-07 0.004656 1 0 TRIM17 51127 broad.mit.edu 37 1 228602468 228602468 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:228602468G>T ENST00000366697.2 - 1 1262 c.306C>A c.(304-306)caC>caA p.H102Q TRIM17_ENST00000456946.2_Missense_Mutation_p.H102Q|TRIM17_ENST00000366698.2_Missense_Mutation_p.H102Q|TRIM17_ENST00000295033.3_Missense_Mutation_p.H102Q Q9Y577 TRI17_HUMAN tripartite motif containing 17 102 protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) GGGGCTCGTGGTGCTCCTGGC 0.662000 76 105 8.2577e-42 2.15436e-41 0.014410 1 0 IGDCC4 57722 broad.mit.edu 37 15 65677380 65677380 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:65677380G>T ENST00000352385.2 - 19 3463 c.3254C>A c.(3253-3255)cCc>cAc p.P1085H IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1085 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 AGCCGGCCGGGGGCCTGCCTG 0.672000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 57 2.5808e-16 5.41865e-16 0.006122 1 0 KDM7A 80853 broad.mit.edu 37 7 139827360 139827360 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:139827360T>C ENST00000397560.2 - 5 680 c.583A>G c.(583-585)Att>Gtt p.I195V JHDM1D_ENST00000006967.5_Missense_Mutation_p.I195V NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 195 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) GCCACATCAATGACATCTATC 0.353000 67 210 0 0 0.014410 0 0 AGO3 192669 broad.mit.edu 37 1 36469988 36469988 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:36469988G>T ENST00000373191.4 + 6 1054 c.705G>T c.(703-705)atG>atT p.M235I AGO3_ENST00000246314.6_Start_Codon_SNP_p.M1I|RP4-665N4.8_ENST00000466576.2_RNA NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 TTCAGTTCATGTGTGAAGTTC 0.328000 47 29 1.00776e-21 2.23146e-21 0.014410 1 0 ZNF646 9726 broad.mit.edu 37 16 31087950 31087950 + Missense_Mutation SNP G G T rs143373931 byFrequency TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:31087950G>T ENST00000394979.2 + 1 728 c.305G>T c.(304-306)cGc>cTc p.R102L ZNF646_ENST00000300850.5_Missense_Mutation_p.R102L O15015 ZN646_HUMAN zinc finger protein 646 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CCTGAGGGCCGCCGCAGGCAC 0.612000 24 65 6.21321e-17 1.30975e-16 0.002780 1 0 AHNAK2 113146 broad.mit.edu 37 14 105409967 105409967 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr14:105409967G>A ENST00000333244.5 - 7 11940 c.11821C>T c.(11821-11823)Cca>Tca p.P3941S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3941 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTGGCTCCTGGGGCCTCGACG 0.602000 224 138 0 0 0.014410 0 0 HTRA4 203100 broad.mit.edu 37 8 38845496 38845496 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:38845496G>A ENST00000302495.4 + 9 1410 c.1310G>A c.(1309-1311)gGg>gAg p.G437E NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 437 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) AACATAAATGGGAAACCTATT 0.383000 31 61 0 0 0.010818 0 0 NES 10763 broad.mit.edu 37 1 156639506 156639506 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:156639506T>A ENST00000368223.3 - 4 4606 c.4474A>T c.(4474-4476)Agt>Tgt p.S1492C NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1492 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGCTCAGCACTGTCCTGGGAC 0.592000 38 89 0 0 0.006999 0 0 PIP 5304 broad.mit.edu 37 7 142832326 142832326 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:142832326A>G ENST00000291009.3 + 2 175 c.135A>G c.(133-135)tcA>tcG p.S45S NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 45 extracellular region actin binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) TTCCCAAGTCAGTACGTCCAA 0.443000 14 17 0 0 0.004007 0 0 DDX42 11325 broad.mit.edu 37 17 61885106 61885106 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:61885106G>T ENST00000578681.1 + 10 1470 c.869G>T c.(868-870)gGt>gTt p.G290V DDX42_ENST00000457800.2_Missense_Mutation_p.G290V|DDX42_ENST00000389924.2_Missense_Mutation_p.G290V|DDX42_ENST00000359353.5_Missense_Mutation_p.G171V|DDX42_ENST00000583590.1_Missense_Mutation_p.G290V NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 290 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 GCATTAAGTGGTAGAGACATG 0.398000 88 124 2.07245e-51 5.74833e-51 0.014410 1 0 ZFAT 57623 broad.mit.edu 37 8 135614646 135614646 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:135614646T>A ENST00000520727.1 - 7 1579 c.1280A>T c.(1279-1281)cAt>cTt p.H427L ZFAT_ENST00000377838.3_Missense_Mutation_p.H439L|ZFAT_ENST00000429442.2_Missense_Mutation_p.H427L|ZFAT_ENST00000523399.1_Missense_Mutation_p.H377L|ZFAT_ENST00000520356.1_Missense_Mutation_p.H427L|ZFAT_ENST00000520214.1_Missense_Mutation_p.H427L NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GGTGGCCCCATGGCCACAGAG 0.587000 19 88 0 0 0.008871 0 0 EGFL8 80864 broad.mit.edu 37 6 32135340 32135340 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:32135340C>A ENST00000395512.1 + 8 847 c.742C>A c.(742-744)Cag>Aag p.Q248K EGFL8_ENST00000333845.6_Missense_Mutation_p.Q248K|EGFL8_ENST00000489721.1_3'UTR|PPT2-EGFL8_ENST00000422437.1_3'UTR Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 248 extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 TGAAGAGCTGCAGCCAGAACA 0.637000 57 74 7.36392e-32 1.79666e-31 0.014410 1 0 TTLL4 9654 broad.mit.edu 37 2 219605285 219605285 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:219605285G>A ENST00000392102.1 + 5 1979 c.1639G>A c.(1639-1641)Gaa>Aaa p.E547K TTLL4_ENST00000442769.1_Missense_Mutation_p.E547K|TTLL4_ENST00000457313.1_Missense_Mutation_p.E382K|TTLL4_ENST00000258398.4_Missense_Mutation_p.E547K NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 547 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CTCCCCCAGCGAATCGGTGGC 0.433000 31 246 0 0 0.006230 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182639 57182639 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:57182639C>T ENST00000504228.1 + 6 3076 c.2971C>T c.(2971-2973)Cgc>Tgc p.R991C KIAA1211_ENST00000264229.6_Missense_Mutation_p.R991C|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R984C Q6ZU35 K1211_HUMAN KIAA1211 991 Pro-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GCTGCTGTCTCGCCGAGCGGG 0.662000 7 20 0 0 0.001984 0 0 IGSF10 285313 broad.mit.edu 37 3 151164418 151164418 + Silent SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:151164418G>A ENST00000282466.3 - 4 3350 c.3351C>T c.(3349-3351)ccC>ccT p.P1117P NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1117 cell differentiation|multicellular organismal development|ossification extracellular region p.P1117P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTCTACACTGGGTTTGTTCT 0.433000 127 84 0 0 0.014410 0 0 ATG9B 285973 broad.mit.edu 37 7 150720252 150720252 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:150720252C>A ENST00000605938.1 - 4 776 c.701G>T c.(700-702)cGa>cTa p.R234L ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.R234L|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Missense_Mutation_p.R234L NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 234 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATCCACGCATCGAAGGAGGAA 0.542000 85 200 5.92634e-42 1.56159e-41 0.014410 1 0 SALL3 27164 broad.mit.edu 37 18 76757146 76757146 + Missense_Mutation SNP G G T rs140437850 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr18:76757146G>T ENST00000536229.3 + 3 3821 c.3112G>T c.(3112-3114)Gtg>Ttg p.V1038L SALL3_ENST00000575389.2_Missense_Mutation_p.V1171L|SALL3_ENST00000537592.2_Missense_Mutation_p.V1243L Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCAGCTCCCCGTGAGTCTTGG 0.607000 42 136 2.37825e-27 5.57039e-27 0.010771 1 0 SPON1 10418 broad.mit.edu 37 11 14063147 14063147 + RNA SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:14063147G>C ENST00000310358.7 + 0 963 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) AGGAGGACCCGGATCCAGGTG 0.473000 93 133 0 0 0.014410 0 0 NUP210 23225 broad.mit.edu 37 3 13415250 13415250 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:13415250C>A ENST00000254508.5 - 12 1637 c.1555G>T c.(1555-1557)Gtg>Ttg p.V519L NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 519 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GGGTTCTGCACATCATGTGCC 0.587000 43 25 2.43139e-17 5.14596e-17 0.014410 1 0 ELN 2006 broad.mit.edu 37 7 73456964 73456964 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:73456964G>T ENST00000252034.7 + 6 652 c.253G>T c.(253-255)Gtt>Ttt p.V85F ELN_ENST00000429192.1_Missense_Mutation_p.V85F|ELN_ENST00000380575.4_Missense_Mutation_p.V75F|ELN_ENST00000380576.5_Missense_Mutation_p.V85F|ELN_ENST00000458204.1_Missense_Mutation_p.V75F|ELN_ENST00000357036.5_Missense_Mutation_p.V85F|ELN_ENST00000380584.4_Missense_Mutation_p.V85F|ELN_ENST00000445912.1_Missense_Mutation_p.V85F|ELN_ENST00000320399.6_Missense_Mutation_p.V85F|ELN_ENST00000320492.7_Missense_Mutation_p.V73F|ELN_ENST00000358929.4_Missense_Mutation_p.V85F|ELN_ENST00000414324.1_Missense_Mutation_p.V75F|ELN_ENST00000380553.4_Intron|ELN_ENST00000380562.4_Missense_Mutation_p.V85F NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 85 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CTTCCCCGCAGTTACCTTTCC 0.632000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 59 88 1.69475e-38 4.31466e-38 0.014410 1 0 PNPLA3 80339 broad.mit.edu 37 22 44333104 44333104 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr22:44333104C>T ENST00000216180.3 + 6 1104 c.931C>T c.(931-933)Ccc>Tcc p.P311S PNPLA3_ENST00000423180.2_Missense_Mutation_p.P307S NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 311 triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) CAGCATCCTGCCCTGGGATGA 0.607000 10 38 0 0 0.006214 0 0 TOX2 84969 broad.mit.edu 37 20 42635366 42635366 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:42635366C>A ENST00000358131.5 + 3 580 c.372C>A c.(370-372)ctC>ctA p.L124L TOX2_ENST00000341197.3_Silent_p.L115L|TOX2_ENST00000423191.1_Silent_p.L73L|TOX2_ENST00000372999.1_Silent_p.L73L NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CCATGGACCTCCCAGCCATCA 0.637000 34 24 6.90743e-12 1.33341e-11 0.003755 1 0 ACADM 34 broad.mit.edu 37 1 76205782 76205782 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:76205782G>A ENST00000370841.4 + 7 1023 c.586G>A c.(586-588)Gga>Aga p.G196R ACADM_ENST00000420607.2_Missense_Mutation_p.G200R|ACADM_ENST00000370834.5_Missense_Mutation_p.G229R|ACADM_ENST00000541113.1_Missense_Mutation_p.G160R|ACADM_ENST00000543667.1_Missense_Mutation_p.G7R NM_000016.4|NM_001127328.1 NP_000007.1|NP_001120800.1 P11310 ACADM_HUMAN acyl-CoA dehydrogenase, C-4 to C-12 straight chain 196 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 18 AACCAACGGAGGAAAAGCTAA 0.328000 29 29 0 0 0.013726 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 53 0 0 0.009096 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369339 20369339 + RNA SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr19:20369339T>C ENST00000593655.1 - 0 199 AGAAACCTAATATAGATACCA 0.373000 54 122 0 0 0.014410 0 0 CYLC1 1538 broad.mit.edu 37 X 83128348 83128348 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:83128348C>A ENST00000329312.4 + 4 669 c.632C>A c.(631-633)aCt>aAt p.T211N NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 211 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 AAGACAAACACTGAATTCCTA 0.308000 21 10 1.01871e-10 1.92423e-10 0.008871 1 0 NPTX2 4885 broad.mit.edu 37 7 98254413 98254413 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:98254413C>A ENST00000265634.3 + 3 988 c.823C>A c.(823-825)Cag>Aag p.Q275K NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 275 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding p.Q275K(1) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GGTGCCAGGGCAGGCCAACGA 0.642000 24 105 3.10358e-05 5.32764e-05 0.014323 1 0 SPON1 10418 broad.mit.edu 37 11 14063148 14063148 + RNA SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:14063148G>C ENST00000310358.7 + 0 964 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GGAGGACCCGGATCCAGGTGT 0.478000 92 129 0 0 0.014410 0 0 SLC22A25 387601 broad.mit.edu 37 11 62932091 62932091 + Missense_Mutation SNP C C T rs148517822 byFrequency TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:62932091C>T ENST00000306494.6 - 8 1300 c.1301G>A c.(1300-1302)cGt>cAt p.R434H SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 434 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CAAAACCACACGCAGGGTCTG 0.478000 41 47 0 0 0.007835 0 0 EDIL3 10085 broad.mit.edu 37 5 83402473 83402473 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:83402473C>A ENST00000296591.5 - 6 1063 c.645G>T c.(643-645)tgG>tgT p.W215C EDIL3_ENST00000380138.3_Missense_Mutation_p.W205C NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 215 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding p.W215*(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TTACCTGAATCCACGGCCATC 0.398000 75 47 1.43161e-34 3.55877e-34 0.014410 1 0 MEPE 56955 broad.mit.edu 37 4 88767088 88767088 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:88767088C>A ENST00000497649.2 + 6 1374 c.996C>A c.(994-996)aaC>aaA p.N332K MEPE_ENST00000361056.3_Missense_Mutation_p.N356K|MEPE_ENST00000395102.4_Missense_Mutation_p.N387K|MEPE_ENST00000424957.3_Missense_Mutation_p.N356K|MEPE_ENST00000560249.1_Missense_Mutation_p.N243K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.N243K Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 356 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding p.N356K(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) GAGAAGGAAACAGAGTGGATG 0.478000 21 45 8.34094e-07 1.47506e-06 0.008871 1 0 FAM47A 158724 broad.mit.edu 37 X 34148697 34148697 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chrX:34148697G>T ENST00000346193.3 - 1 1750 c.1699C>A c.(1699-1701)Cat>Aat p.H567N NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 567 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GAGAATTGATGGGACTCTGGA 0.547000 63 16 7.73544e-29 1.8363e-28 0.014410 1 0 CHEK2P2 646096 broad.mit.edu 37 15 20489494 20489494 + RNA SNP A A C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:20489494A>C ENST00000555186.1 + 0 482 NR_038836.1 TCTCAGAGAAAGGTATGAATA 0.428000 26 201 0 0 0.003954 0 0 CPQ 10404 broad.mit.edu 37 8 97797327 97797327 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:97797327G>A ENST00000220763.5 + 2 412 c.202G>A c.(202-204)Gca>Aca p.A68T NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 68 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity TGAGCGATTGGCACTTCTGGT 0.438000 49 98 0 0 0.014410 0 0 GATA2 2624 broad.mit.edu 37 3 128200788 128200788 + Splice_Site SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:128200788C>A ENST00000341105.2 - 5 1349 c.e5-1 GATA2_ENST00000487848.1_Splice_Site|GATA2_ENST00000430265.2_Intron|GATA2_ENST00000489987.1_5'UTR NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) TGGCGGCCGACTGGGAGGGCA 0.657000 Mis AML(CML blast transformation) 39 18 3.61848e-18 7.7204e-18 0.007835 1 0 CDH9 1007 broad.mit.edu 37 5 26881508 26881508 + Missense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:26881508T>A ENST00000231021.4 - 12 2279 c.2107A>T c.(2107-2109)Act>Tct p.T703S NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 703 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGAGGCACAGTCCTCCTTATC 0.418000 101 98 0 0 0.014410 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269516 150269516 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:150269516G>T ENST00000255945.2 + 3 533 c.358G>T c.(358-360)Gtg>Ttg p.V120L GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.V134L NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 120 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTGCTTCTGGTGGTTCCACT 0.493000 22 71 7.87624e-14 1.57824e-13 0.002780 1 0 MYT1 4661 broad.mit.edu 37 20 62839775 62839775 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:62839775G>T ENST00000536311.1 + 7 1590 c.1226G>T c.(1225-1227)gGc>gTc p.G409V MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.G409V Q01538 MYT1_HUMAN myelin transcription factor 1 409 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGCCAGCTGGGCCTGGGAGAG 0.657000 28 26 2.12542e-12 4.1485e-12 0.006320 1 0 COL5A2 1290 broad.mit.edu 37 2 189916924 189916924 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:189916924C>A ENST00000374866.3 - 41 3017 c.2743G>T c.(2743-2745)Ggc>Tgc p.G915C NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 915 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAACTCTGCCCGCAGAACCA 0.363000 75 121 2.38877e-28 5.64521e-28 0.014410 1 0 SCN3A 6328 broad.mit.edu 37 2 165970341 165970341 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:165970341G>T ENST00000360093.3 - 20 4145 c.3654C>A c.(3652-3654)ctC>ctA p.L1218L SCN3A_ENST00000409101.3_Silent_p.L1169L|SCN3A_ENST00000283254.7_Silent_p.L1218L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1218 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CACCACTACTGAGAAGGATCA 0.393000 24 159 2.21704e-12 4.31136e-12 0.002780 1 0 MGAT4C 25834 broad.mit.edu 37 12 86373526 86373526 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:86373526C>A ENST00000604798.1 - 8 2182 c.978G>T c.(976-978)aaG>aaT p.K326N MGAT4C_ENST00000548651.1_Missense_Mutation_p.K326N|MGAT4C_ENST00000393205.2_Missense_Mutation_p.K355N|MGAT4C_ENST00000332156.1_Missense_Mutation_p.K326N|MGAT4C_ENST00000552808.2_Missense_Mutation_p.K326N|MGAT4C_ENST00000552435.2_3'UTR|MGAT4C_ENST00000549405.2_Missense_Mutation_p.K326N Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 326 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AATCATCATCCTTCAGCTTAT 0.408000 33 68 4.74835e-14 9.55108e-14 0.010818 1 0 OR51F1 256892 broad.mit.edu 37 11 4790612 4790612 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:4790612G>A ENST00000380383.1 - 1 556 c.557C>T c.(556-558)tCc>tTc p.S186F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.S179F A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 179 integral to membrane olfactory receptor activity p.S179F(1) kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) GTAACAATAGGAGTGAGAAAG 0.393000 44 68 0 0 0.011902 0 0 RUNX1T1 862 broad.mit.edu 37 8 93003958 93003958 + Nonsense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:93003958G>T ENST00000523629.1 - 7 1354 c.900C>A c.(898-900)taC>taA p.Y300* RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.Y263*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.Y300*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.Y263*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.Y311*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.Y273*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.Y263*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.Y273* NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 300 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CATCCAAACGGTAATGCTGAG 0.557000 74 127 1.88737e-50 5.18043e-50 0.014410 1 0 OR10Q1 219960 broad.mit.edu 37 11 57996156 57996156 + Silent SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:57996156A>G ENST00000316770.2 - 1 234 c.192T>C c.(190-192)taT>taC p.Y64Y NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) ACAGGAAGAAATACATCGGGG 0.527000 26 96 0 0 0.005443 0 0 LAMA4 3910 broad.mit.edu 37 6 112455712 112455712 + Missense_Mutation SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:112455712C>T ENST00000230538.7 - 26 3911 c.3514G>A c.(3514-3516)Gat>Aat p.D1172N LAMA4_ENST00000389463.4_Missense_Mutation_p.D1165N|LAMA4_ENST00000424408.2_Missense_Mutation_p.D1165N|LAMA4_ENST00000522006.1_Missense_Mutation_p.D1165N NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1172 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATGTATATATCTGTAAAAGGT 0.373000 17 59 0 0 0.006122 0 0 TRIM11 81559 broad.mit.edu 37 1 228582544 228582544 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:228582544C>A ENST00000493030.2 - 5 4603 c.894G>T c.(892-894)ggG>ggT p.G298G TRIM11_ENST00000284551.6_Silent_p.G423G|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR Q96F44 TRI11_HUMAN tripartite motif containing 11 423 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) ATAGCAGTGACCCATCGGTGG 0.632000 56 69 5.22555e-25 1.18192e-24 0.014410 1 0 TNS1 7145 broad.mit.edu 37 2 218713528 218713528 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:218713528C>A ENST00000171887.4 - 17 1789 c.1337G>T c.(1336-1338)gGc>gTc p.G446V TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Missense_Mutation_p.G446V|TNS1_ENST00000419504.1_Missense_Mutation_p.G446V NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 446 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TAAGCCAAAGCCACTCAGCAG 0.667000 70 96 4.46356e-37 1.1255e-36 0.014410 1 0 CLOCK 9575 broad.mit.edu 37 4 56336970 56336970 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:56336970G>C ENST00000309964.4 - 7 602 c.352C>G c.(352-354)Ctt>Gtt p.L118V CLOCK_ENST00000513440.1_Missense_Mutation_p.L118V|CLOCK_ENST00000381322.1_Missense_Mutation_p.L118V NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 118 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) AAACCATCAAGAGCCTGAAAT 0.274000 29 76 0 0 0.009535 0 0 NBEAP1 606 broad.mit.edu 37 15 20876518 20876518 + RNA SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:20876518C>G ENST00000556948.1 - 0 82 CAAAGGTACTCCATGAGATAA 0.338000 28 203 0 0 0.005443 0 0 DMXL1 1657 broad.mit.edu 37 5 118469357 118469357 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:118469357G>T ENST00000311085.8 + 12 1818 c.1738G>T c.(1738-1740)Ggt>Tgt p.G580C DMXL1_ENST00000539542.1_Missense_Mutation_p.G580C NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 580 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TATTTCTTCTGGTCACAATAA 0.373000 22 61 4.35082e-09 7.96139e-09 0.010504 1 0 NEB 4703 broad.mit.edu 37 2 152470916 152470916 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:152470916C>A ENST00000427231.2 - 77 11677 c.11475G>T c.(11473-11475)gtG>gtT p.V3825V NEB_ENST00000172853.10_Silent_p.V3582V|NEB_ENST00000409198.1_Silent_p.V3582V|NEB_ENST00000604864.1_Silent_p.V3825V|NEB_ENST00000397345.3_Silent_p.V3825V|NEB_ENST00000603639.1_Silent_p.V3825V NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 3825 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCTTGGCCAGCACCACCCCCA 0.527000 281 341 1.52656e-134 4.54518e-134 0.014410 1 0 CLU 1191 broad.mit.edu 37 8 27466544 27466544 + Missense_Mutation SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:27466544C>A ENST00000316403.10 - 3 562 c.157G>T c.(157-159)Gtg>Ttg p.V53L CLU_ENST00000523500.1_Missense_Mutation_p.V53L|CLU_ENST00000560366.1_Missense_Mutation_p.V105L|CLU_ENST00000405140.3_Missense_Mutation_p.V53L|CLU_ENST00000546343.1_Missense_Mutation_p.V64L P10909 CLUS_HUMAN clusterin 53 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) ATCTGTTTCACCCCGTTGACA 0.443000 77 166 6.20995e-33 1.52927e-32 0.014410 1 0 LZTS2 84445 broad.mit.edu 37 10 102763434 102763434 + Silent SNP C C G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:102763434C>G ENST00000370220.1 + 2 3642 c.579C>G c.(577-579)tcC>tcG p.S193S LZTS2_ENST00000370223.3_Silent_p.S193S Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 193 Required for centrosomal localization (By similarity).|Ser-rich. cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) cctcctcttcctcctcctctt 0.642000 78 365 0 0 0.014410 0 0 POLR2A 5430 broad.mit.edu 37 17 7406556 7406556 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:7406556G>C ENST00000322644.6 + 17 3272 c.2873G>C c.(2872-2874)cGg>cCg p.R958P NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 958 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GAATTTGAGCGGATGCGGGAG 0.602000 30 83 0 0 0.010818 0 0 GOLGA8EP 390535 broad.mit.edu 37 15 23444033 23444033 + RNA SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:23444033G>A ENST00000526079.1 + 0 1677 NR_027407.1|NR_033350.1 TCTGGACAGTGAGGGGGAGGA 0.627000 15 196 0 0 0.010504 0 0 ULK4 54986 broad.mit.edu 37 3 41996204 41996204 + Silent SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr3:41996204A>T ENST00000301831.4 - 2 510 c.48T>A c.(46-48)acT>acA p.T16T ULK4_ENST00000420927.1_Silent_p.T16T|ULK4_ENST00000414606.1_Silent_p.T16T NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 16 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) TATAGACAACAGTCTTGCTTC 0.418000 75 50 0 0 0.014410 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 17 25 1.5739e-10 2.95176e-10 0.004007 1 0 UNC5D 137970 broad.mit.edu 37 8 35616958 35616958 + Missense_Mutation SNP T T C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:35616958T>C ENST00000287272.2 + 13 2097 c.2077T>C c.(2077-2079)Tgg>Cgg p.W693R UNC5D_ENST00000416672.1_Missense_Mutation_p.W767R|UNC5D_ENST00000449677.1_Missense_Mutation_p.W338R|UNC5D_ENST00000453357.2_Missense_Mutation_p.W757R|UNC5D_ENST00000420357.1_Missense_Mutation_p.W695R|UNC5D_ENST00000404895.2_Missense_Mutation_p.W762R Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 762 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCCATTCCTCTGGAGAATTAA 0.458000 4 411 0 0 0.000602 0 0 CES5A 221223 broad.mit.edu 37 16 55903558 55903558 + Silent SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:55903558G>T ENST00000521992.1 - 5 748 c.603C>A c.(601-603)gtC>gtA p.V201V CES5A_ENST00000290567.9_Silent_p.V172V|CES5A_ENST00000520435.1_Silent_p.V142V|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_Silent_p.V66V|CES5A_ENST00000319165.9_Silent_p.V172V NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 172 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GGTACTGGACGACCACAACCA 0.547000 30 34 5.8336e-16 1.21036e-15 0.003271 1 0 OR2AG2 338755 broad.mit.edu 37 11 6790080 6790080 + Missense_Mutation SNP A A T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:6790080A>T ENST00000338569.2 - 1 206 c.109T>A c.(109-111)Ttg>Atg p.L37M NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTCAGTGCCAACATGTATAGG 0.537000 61 84 0 0 0.014410 0 0 CLNK 116449 broad.mit.edu 37 4 10527500 10527500 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:10527500G>T ENST00000226951.6 - 14 935 c.696C>A c.(694-696)aaC>aaA p.N232K CLNK_ENST00000442825.2_Intron NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker 232 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 GAGTATTTTGGTTTTCTAACA 0.418000 12 0 6.81908e-15 1.39831e-14 0.002450 1 0 INSC 387755 broad.mit.edu 37 11 15134022 15134022 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:15134022C>A ENST00000379554.3 + 1 53 c.7C>A c.(7-9)Cgg>Agg p.R3R NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 3 cell differentiation|nervous system development cytoplasm binding p.R3W(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 AGCCATGAGACGGCCCCCTGG 0.627000 40 48 1.02591e-13 2.03253e-13 0.010771 1 0 DSE 29940 broad.mit.edu 37 6 116757507 116757507 + Missense_Mutation SNP G G C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr6:116757507G>C ENST00000331677.3 + 7 2320 c.1876G>C c.(1876-1878)Gag>Cag p.E626Q DSE_ENST00000537543.1_Missense_Mutation_p.E645Q|DSE_ENST00000359564.2_Missense_Mutation_p.E626Q|DSE_ENST00000452085.3_Missense_Mutation_p.E626Q Q9UL01 DSE_HUMAN dermatan sulfate epimerase 626 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TGGCTACAGCGAGAAAGCAAC 0.493000 24 68 0 0 0.004656 0 0 LZTS1 11178 broad.mit.edu 37 8 20110358 20110358 + Nonsense_Mutation SNP T T A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:20110358T>A ENST00000381569.1 - 3 1441 c.1084A>T c.(1084-1086)Aag>Tag p.K362* LZTS1_ENST00000265801.6_Nonsense_Mutation_p.K362*|LZTS1_ENST00000522290.1_Nonsense_Mutation_p.K362* Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 362 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GACCTGAGCTTGGTCTCCAGC 0.642000 23 63 0 0 0.014323 0 0 RP1 6101 broad.mit.edu 37 8 55537428 55537428 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr8:55537428G>T ENST00000220676.1 + 4 1134 c.986G>T c.(985-987)gGc>gTc p.G329V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 329 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AATCAAGACGGCACTATGACA 0.323000 20 65 5.03518e-11 9.61428e-11 0.007413 1 0 TRBV5-4 28611 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 3 48 0 0 0.000602 0 0 SSPO 23145 broad.mit.edu 37 7 149502627 149502627 + RNA SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr7:149502627G>T ENST00000378016.2 + 0 8440 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATCCTGCCCAGGAGATGCCAC 0.682000 23 53 2.52088e-20 5.51246e-20 0.002780 1 0 CUBN 8029 broad.mit.edu 37 10 16975228 16975228 + Silent SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr10:16975228C>A ENST00000377833.4 - 40 6047 c.5982G>T c.(5980-5982)ccG>ccT p.P1994P NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1994 CUB 14. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.G1995C(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGGCCAGCCCGGGGAGAAGA 0.507000 25 72 1.26454e-06 2.22138e-06 0.005443 1 0 RCOR3 55758 broad.mit.edu 37 1 211486235 211486235 + Missense_Mutation SNP A A G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:211486235A>G ENST00000367005.4 + 10 1216 c.1075A>G c.(1075-1077)Act>Gct p.T359A RCOR3_ENST00000452621.2_Missense_Mutation_p.T417A|RCOR3_ENST00000367006.4_Intron|RCOR3_ENST00000419091.2_Missense_Mutation_p.T417A|RCOR3_ENST00000526255.1_3'UTR NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) TGATGCTTCTACTTTAGGGGA 0.443000 64 122 0 0 0.014410 0 0 KLKB1 3818 broad.mit.edu 37 4 187173004 187173004 + Missense_Mutation SNP G G A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:187173004G>A ENST00000264690.6 + 10 1320 c.1133G>A c.(1132-1134)gGg>gAg p.G378E KLKB1_ENST00000513864.1_Missense_Mutation_p.G378E NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 378 blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TGTAACACTGGGGACAACTCT 0.418000 42 88 0 0 0.010771 0 0 IGLV2-14 28815 broad.mit.edu 37 22 23101412 23101412 + RNA SNP C C A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr22:23101412C>A ENST00000390312.2 + 0 107 CCCAGTCTGCCCTGACTCAGC 0.592000 125 86 1.20474e-87 3.52722e-87 0.014410 1 0 PHF21B 112885 broad.mit.edu 37 22 45312349 45312349 + Silent SNP C C T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr22:45312349C>T ENST00000313237.5 - 4 525 c.375G>A c.(373-375)gcG>gcA p.A125A PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000396103.3_Silent_p.A125A|PHF21B_ENST00000404079.2_Silent_p.A113A|PHF21B_ENST00000447824.3_Silent_p.A113A NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 125 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GGCTGCCGGGCGCTGGCACAT 0.701000 23 64 0 0 0.003330 0 0 RP11-739N20.2 0 broad.mit.edu 37 1 204363979 204363980 + RNA INS - - A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr1:204363979_204363980insA ENST00000443515.1 + 0 146 atttgtttttcaaaaaaaaaaa 0.307 6 4 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 58688420 58688421 + RNA INS - - C TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:58688420_58688421insC ENST00000452840.1 + 0 127 AGGCCATGCGGCCCGGCAGGAA 0.490 12 35 --- --- --- --- SPRED2 200734 broad.mit.edu 37 2 65540928 65540928 + Frame_Shift_Del DEL G G - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr2:65540928delG ENST00000356388.4 - 6 1153 c.964delC c.(964-966)gcfs p.R323fs SPRED2_ENST00000443619.2_Frame_Shift_Del_p.R320fs NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 323 SPR. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 TGGCCCCGGCGGTTCTCCTCG 0.662 94 260 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69199072 69199073 + Frame_Shift_Ins INS - - G TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr4:69199072_69199073insG ENST00000344157.4 - 5 1261_1262 c.926_927insC c.(925-927)catfs p.H309fs YTHDC1_ENST00000579690.1_Frame_Shift_Ins_p.H309fs|YTHDC1_ENST00000355665.3_Frame_Shift_Ins_p.H309fs NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 309 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CAAAAACAATTGGAGATATGCC 0.332 75 258 --- --- --- --- RICTOR 253260 broad.mit.edu 37 5 38959321 38959325 + Frame_Shift_Del DEL GGAAA GGAAA - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:38959321_38959325delGGAAA ENST00000357387.3 - 22 2180_2184 c.2150_2154delTTTCC c.(2149-2154)cfs p.LS717fs RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Frame_Shift_Del_p.LS717fs NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 717 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TTAAAATTTTGGAAAGGATGACTCT 0.337 8 109 --- --- --- --- AC008694.3 0 broad.mit.edu 37 5 157116925 157116925 + RNA DEL C C - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr5:157116925delC ENST00000522076.1 - 0 333 AAACCAGACTCCCCTGCTGTC 0.443 48 27 --- --- --- --- PPFIBP2 8495 broad.mit.edu 37 11 7661015 7661020 + In_Frame_Del DEL CAGGAG CAGGAG - rs137855547 byFrequency TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr11:7661015_7661020delCAGGAG ENST00000299492.4 + 15 1677_1682 c.1289_1294delCAGGAG c.(1288-1296)tcc>t p.SGA430del PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_In_Frame_Del_p.SGA287del|PPFIBP2_ENST00000533792.1_In_Frame_Del_p.SGA272del|PPFIBP2_ENST00000528883.1_In_Frame_Del_p.SGA318del NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 430 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GGGAAGCTTTCAGGAGCCACGCCCAA 0.568 53 245 --- --- --- --- LRRIQ1 84125 broad.mit.edu 37 12 85449548 85449549 + Frame_Shift_Ins INS - - A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr12:85449548_85449549insA ENST00000393217.2 + 8 1038_1039 c.977_978insA c.(976-978)gaafs p.E326fs NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 326 Glu-rich. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) gaaaaggaagcaaaaatacgac 0.332 17 58 --- --- --- --- CHRNA3 1136 broad.mit.edu 37 15 78913068 78913070 + In_Frame_Del DEL CAG CAG - rs72025661 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:78913068_78913070delCAG ENST00000326828.5 - 1 451_453 c.67_69delCTG c.(67-69)del p.L23del CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 23 Missing. activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 gcagcagagacagcagcagcagc 0.768 4 3 --- --- --- --- CERS3 204219 broad.mit.edu 37 15 101013174 101013174 + Frame_Shift_Del DEL C C - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr15:101013174delC ENST00000284382.4 - 10 1116 c.693delG c.(691-693)ggfs p.G231fs CERS3_ENST00000394113.1_Frame_Shift_Del_p.G231fs|CERS3_ENST00000538112.2_Frame_Shift_Del_p.G231fs|CERS3_ENST00000560944.1_Intron NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 231 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TCACGAGGGTCCCACTGCGAA 0.433 24 129 --- --- --- --- RP11-483K5.3 0 broad.mit.edu 37 16 8580574 8580575 + RNA DEL AG AG - rs149054995 TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr16:8580574_8580575delAG ENST00000562516.1 - 0 84 cgagggagacagagaggagaga 0.480 4 4 --- --- --- --- MPP3 4356 broad.mit.edu 37 17 41905182 41905182 + Frame_Shift_Del DEL C C - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr17:41905182delC ENST00000398393.1 - 6 795 c.535delG c.(535-537)acfs p.D179fs MPP3_ENST00000398389.4_Frame_Shift_Del_p.D154fs Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 154 PDZ. signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) GAGTGCTCGTCCCGCCGGATG 0.627 41 156 --- --- --- --- ATP9B 374868 broad.mit.edu 37 18 77102279 77102289 + Frame_Shift_Del DEL AACAGGCGATA AACAGGCGATA - TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr18:77102279_77102289delAACAGGCGATA ENST00000426216.2 + 20 2312_2322 c.2295_2305delAACAGGCGATA c.(2293-2307)ctaafs p.LTGDK765fs ATP9B_ENST00000543761.1_Frame_Shift_Del_p.LTGDK86fs|RP11-800A18.4_ENST00000592906.1_RNA|ATP9B_ENST00000307671.7_Frame_Shift_Del_p.LTGDK765fs NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 765 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) TATGGATGCTAACAGGCGATAAACTCGAGAC 0.379 16 124 --- --- --- --- EYA2 2139 broad.mit.edu 37 20 45808534 45808535 + Frame_Shift_Ins INS - - A TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9b8d0a7-d8a2-4806-a5f4-6dcb072b510d af6b81ce-4107-4511-a892-41fa763fd576 g.chr20:45808534_45808535insA ENST00000327619.5 + 13 1661_1662 c.1287_1288insA c.(1285-1290)ctaggcfs p.G430fs EYA2_ENST00000357410.3_Intron|EYA2_ENST00000317304.6_Frame_Shift_Ins_p.G400fs NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 430 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity p.L429L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CCCACTCCCTGAAGGCACTAAA 0.559 47 64 --- --- --- ---