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 SARDH 1757 broad.mit.edu 37 9 136597638 136597638 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:136597638C>T ENST00000371872.4 - 3 674 c.417G>A c.(415-417)gaG>gaA p.E139E SARDH_ENST00000371867.1_Silent_p.E50E|SARDH_ENST00000298628.5_Silent_p.E139E|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Silent_p.E139E NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 139 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GTCCCGTCTCCTCCTCCAGCT 0.672000 40 136 0 0 0.009718 0 0 C3AR1 719 broad.mit.edu 37 12 8212250 8212250 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:8212250G>A ENST00000307637.4 - 2 735 c.532C>T c.(532-534)Ctc>Ttc p.L178F NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 178 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) GAGCTGGAGAGACCAAATTTG 0.418000 51 52 0 0 0.014410 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763562 92763562 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:92763562C>T ENST00000318238.4 - 5 2939 c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K SAMD9L_ENST00000411955.1_Missense_Mutation_p.E575K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E575K NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 575 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AACATATTTTCCATTCCTTTG 0.358000 22 48 0 0 0.014323 0 0 ALPK3 57538 broad.mit.edu 37 15 85383474 85383474 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:85383474G>A ENST00000258888.5 + 5 1737 c.1570G>A c.(1570-1572)Gaa>Aaa p.E524K NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 524 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) GAAAGATGAGGAATCCAAGCA 0.552000 19 50 0 0 0.007413 0 0 ESR2 2100 broad.mit.edu 37 14 64749369 64749369 + Missense_Mutation SNP G G A rs141516067 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:64749369G>A ENST00000557772.1 - 1 334 c.335C>T c.(334-336)tCg>tTg p.S112L ESR2_ENST00000357782.2_Missense_Mutation_p.S112L|ESR2_ENST00000358599.5_Missense_Mutation_p.S112L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000553796.1_Missense_Mutation_p.S112L|ESR2_ENST00000555278.1_Missense_Mutation_p.S112L|ESR2_ENST00000542956.1_Missense_Mutation_p.S112L|ESR2_ENST00000554572.1_Missense_Mutation_p.S112L|ESR2_ENST00000341099.4_Missense_Mutation_p.S112L|ESR2_ENST00000267525.6_Missense_Mutation_p.S112L|ESR2_ENST00000353772.3_Missense_Mutation_p.S112L NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 112 Modulating. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) GTGTTCTAGCGATCTTGCTTC 0.448000 24 26 0 0 0.018920 0 0 SCN5A 6331 broad.mit.edu 37 3 38601711 38601711 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:38601711C>T ENST00000413689.1 - 23 4365 c.4172G>A c.(4171-4173)gGa>gAa p.G1391E SCN5A_ENST00000414099.2_Missense_Mutation_p.G1391E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1391E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1391E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1390E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1390E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1337E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1337E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1337E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1390E NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1391 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTACAATTCTCCGGTCAAGTT 0.527000 8 17 0 0 0.004482 0 0 GPC6 10082 broad.mit.edu 37 13 93879743 93879743 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:93879743C>T ENST00000377047.4 + 1 649 c.34C>T c.(34-36)Ctc>Ttc p.L12F NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 12 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GATTCTTCCCCTCTTGGGGCT 0.642000 OREG0022460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 58 0 0 0.012213 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726198 168726198 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:168726198C>T ENST00000305861.1 + 2 1000 c.649C>T c.(649-651)Cgc>Tgc p.R217C AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R217C|AC016723.4_ENST00000436982.2_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 217 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.R217C(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 TCGGGATGTCCGCAGTAAGTG 0.453000 19 41 0 0 0.014323 0 0 MTOR 2475 broad.mit.edu 37 1 11316081 11316081 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:11316081G>A ENST00000361445.4 - 5 749 c.673C>T c.(673-675)Ccg>Tcg p.P225S NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 225 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 ATCTCCTTCGGCTCACGCTGG 0.557000 16 27 0 0 0.008871 0 0 DSCAM 1826 broad.mit.edu 37 21 41447132 41447132 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:41447132G>A ENST00000400454.1 - 27 5197 c.4720C>T c.(4720-4722)Cct>Tct p.P1574S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1574 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATGAGTGGAGGAATTGTACCT 0.502000 11 27 0 0 0.013537 0 0 BCL9L 283149 broad.mit.edu 37 11 118773103 118773103 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:118773103G>A ENST00000334801.3 - 6 2313 c.1349C>T c.(1348-1350)cCc>cTc p.P450L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 450 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CTGCTGGGGGGGAGGGGGGGC 0.672000 16 12 0 0 0.003163 0 0 DEPDC5 9681 broad.mit.edu 37 22 32217490 32217490 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:32217490C>T ENST00000400246.1 + 23 2015 c.1873C>T c.(1873-1875)Cca>Tca p.P625S DEPDC5_ENST00000400248.1_Missense_Mutation_p.P625S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P625S|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P625S|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P625S|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P625S|DEPDC5_ENST00000535622.1_Intron O75140 DEPD5_HUMAN DEP domain containing 5 625 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CTGGGTAGGGCCATCCGGAGA 0.532000 42 103 0 0 0.010771 0 0 ZNF516 9658 broad.mit.edu 37 18 74154876 74154876 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:74154876G>A ENST00000443185.2 - 3 452 c.135C>T c.(133-135)ttC>ttT p.F45F ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCGAGCTCTGGAAGGGGAAGC 0.662000 15 17 0 0 0.004990 0 0 C2orf71 388939 broad.mit.edu 37 2 29293979 29293979 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:29293979G>A ENST00000331664.5 - 1 3148 c.3149C>T c.(3148-3150)cCa>cTa p.P1050L NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1050 Pro-rich. response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CTGGTGCGGTGGGGAAGTTCG 0.682000 24 43 0 0 0.021523 0 0 OR10H5 284433 broad.mit.edu 37 19 15905786 15905786 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:15905786C>T ENST00000308940.8 + 1 1026 c.928C>T c.(928-930)Ctc>Ttc p.L310F NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CTTCACCAAACTCTTTCCACA 0.478000 9 24 0 0 0.004482 0 0 CR1 1378 broad.mit.edu 37 1 207789995 207789995 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:207789995G>A ENST00000367049.4 + 41 6737 c.6737G>A c.(6736-6738)gGa>gAa p.G2246E CR1_ENST00000367051.1_Missense_Mutation_p.G1796E|CR1_ENST00000367052.1_Missense_Mutation_p.G1796E|CR1_ENST00000367053.1_Missense_Mutation_p.G1796E|CR1_ENST00000400960.2_Missense_Mutation_p.G1796E NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1796 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ATTCCCTATGGAAAAGAAATA 0.468000 78 138 0 0 0.014410 0 0 GRIA3 2892 broad.mit.edu 37 X 122459949 122459949 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:122459949G>A ENST00000264357.5 + 4 873 c.581G>A c.(580-582)gGa>gAa p.G194E GRIA3_ENST00000371256.5_Missense_Mutation_p.G194E|GRIA3_ENST00000542149.1_Missense_Mutation_p.G194E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G178E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G194E NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 194 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) AGGTCTGTGGGAAACATAAAG 0.443000 10 18 0 0 0.006214 0 0 HLA-F 3134 broad.mit.edu 37 6 29694733 29694733 + Missense_Mutation SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:29694733A>T ENST00000440587.2 + 6 1082 c.723A>T c.(721-723)caA>caT p.Q241H HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.Q370H P30511 HLAF_HUMAN major histocompatibility complex, class I, F 117 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGCTCTTCCAAGGATATTTGG 0.493000 40 165 0 0 0.007835 0 0 GJB4 127534 broad.mit.edu 37 1 35227260 35227260 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:35227260C>T ENST00000339480.1 + 2 775 c.405C>T c.(403-405)ctC>ctT p.L135L RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 135 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TGCTGAGCCTCATCTTCAAGG 0.602000 18 34 0 0 0.008871 0 0 DNAH8 1769 broad.mit.edu 37 6 38840746 38840746 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:38840746C>T ENST00000359357.3 + 49 6905 c.6651C>T c.(6649-6651)tcC>tcT p.S2217S DNAH8_ENST00000449981.2_Silent_p.S2434S|DNAH8_ENST00000441566.1_Silent_p.S2181S dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACTTAAATTCCGTTTTGGATG 0.378000 20 90 0 0 0.018920 0 0 VWA5A 4013 broad.mit.edu 37 11 124007781 124007781 + Missense_Mutation SNP G G A rs143375060 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:124007781G>A ENST00000456829.2 + 15 1936 c.1685G>A c.(1684-1686)aGg>aAg p.R562K VWA5A_ENST00000392748.1_Missense_Mutation_p.R562K|VWA5A_ENST00000360334.4_Intron NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 562 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 ATGGGCCTCAGGGAGACTCCA 0.453000 27 35 0 0 0.006320 0 0 PAX5 5079 broad.mit.edu 37 9 36882077 36882077 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:36882077G>A ENST00000358127.4 - 8 1010 c.936C>T c.(934-936)ctC>ctT p.L312L PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Silent_p.L269L|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377853.2_Silent_p.L312L|PAX5_ENST00000414447.1_Silent_p.L269L|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000522003.1_Silent_p.L204L NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 312 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(22)|p.L312>?(1) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GGTACCCGGGGAGGGTCGTGC 0.637000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 8 11 0 0 0.006214 0 0 PIK3R5 23533 broad.mit.edu 37 17 8784275 8784275 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:8784275G>A ENST00000447110.1 - 18 2566 c.2442C>T c.(2440-2442)ccC>ccT p.P814P PIK3R5_ENST00000581552.1_Silent_p.P814P|PIK3R5_ENST00000584803.1_Silent_p.P813P NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 814 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 ACACAGCAAAGGGGCAGCTGT 0.567000 64 38 0 0 0.014410 0 0 HAUS5 23354 broad.mit.edu 37 19 36109915 36109915 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:36109915C>T ENST00000203166.5 + 13 1168 c.1143C>T c.(1141-1143)gcC>gcT p.A381A HAUS5_ENST00000379045.2_3'UTR NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 381 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 AGCTACAGGCCAAACAGCAGC 0.632000 15 33 0 0 0.004007 0 0 PEG3 5178 broad.mit.edu 37 19 57325354 57325354 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:57325354C>T ENST00000326441.9 - 10 4819 c.4456G>A c.(4456-4458)Gga>Aga p.G1486R ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1362R|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1486R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1360R NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1486 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTTCAATTCCCACACCGTCA 0.502000 39 101 0 0 0.006230 0 0 PRSS36 146547 broad.mit.edu 37 16 31152904 31152904 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:31152904G>A ENST00000268281.4 - 12 1845 c.1787C>T c.(1786-1788)cCa>cTa p.P596L PRSS36_ENST00000418068.2_Missense_Mutation_p.P596L|PRSS36_ENST00000569305.1_Missense_Mutation_p.P591L NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 596 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GACCCCCACTGGAGCAGCCTC 0.682000 23 34 0 0 0.014323 0 0 CARS 833 broad.mit.edu 37 11 3041483 3041483 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:3041483G>A ENST00000397114.3 - 11 1330 c.954C>T c.(952-954)ccC>ccT p.P318P CARS_ENST00000401769.3_Silent_p.P341P|CARS_ENST00000380525.4_Silent_p.P411P|CARS_ENST00000397111.5_Silent_p.P328P|CARS_ENST00000278224.9_Silent_p.P328P P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 328 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) ACGGTTCTCCGGGCTTAGAGG 0.627000 T ALK ALCL 20 60 0 0 0.014323 0 0 KRT16 3868 broad.mit.edu 37 17 39767645 39767645 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:39767645G>A ENST00000301653.4 - 3 787 c.723C>T c.(721-723)atC>atT p.I241I NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 241 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) TCAGGCCTTCGATCTGCATCT 0.637000 51 77 0 0 0.014410 0 0 RNF17 56163 broad.mit.edu 37 13 25453337 25453337 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:25453337G>A ENST00000255324.5 + 35 4838 c.4786G>A c.(4786-4788)Gaa>Aaa p.E1596K RNF17_ENST00000381921.1_Missense_Mutation_p.E1554K|RNF17_ENST00000339524.3_Missense_Mutation_p.E606K NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1596 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCCAGCACCAGAACAGATAGT 0.408000 13 23 0 0 0.003163 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106093514 106093514 + Missense_Mutation SNP T T G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:106093514T>G ENST00000357242.5 + 12 2271 c.2097T>G c.(2095-2097)gaT>gaG p.D699E TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D693E NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 699 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTAAAGATGATGCTGAAGCTG 0.373000 24 28 0 0 0.021523 0 0 FEM1A 55527 broad.mit.edu 37 19 4793311 4793311 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:4793311C>T ENST00000269856.3 + 1 1584 c.1445C>T c.(1444-1446)cCc>cTc p.P482L AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 482 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CTGCAGCTGCCCAGGGAGCCC 0.657000 29 49 0 0 0.008361 0 0 BCAR1 9564 broad.mit.edu 37 16 75268868 75268868 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:75268868G>A ENST00000546196.1 - 5 3494 c.1842C>T c.(1840-1842)ttC>ttT p.F614F BCAR1_ENST00000162330.5_Silent_p.F643F|BCAR1_ENST00000542031.2_Silent_p.F641F|BCAR1_ENST00000538440.2_Silent_p.F643F|BCAR1_ENST00000535626.2_Silent_p.F495F|BCAR1_ENST00000393422.2_Silent_p.F661F|BCAR1_ENST00000420641.3_Silent_p.F661F|BCAR1_ENST00000418647.3_Silent_p.F689F|BCAR1_ENST00000393420.6_Silent_p.F661F|BCAR1_ENST00000566982.1_5'UTR P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 643 Ser-rich. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) CCTGGGAGGTGAACTTAGGGG 0.662000 26 51 0 0 0.007291 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919569 12919569 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:12919569G>A ENST00000240189.2 + 3 396 c.309G>A c.(307-309)ctG>ctA p.L103L NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 103 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTCAAGTGCTGGATTTGCGGG 0.517000 101 211 0 0 0.014410 0 0 LGR6 59352 broad.mit.edu 37 1 202283943 202283943 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:202283943G>A ENST00000367278.3 + 17 1670 c.1581G>A c.(1579-1581)ctG>ctA p.L527L LGR6_ENST00000255432.7_Silent_p.L475L|LGR6_ENST00000439764.2_Silent_p.L388L NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 527 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 ACCAGGACCTGGATGAGCTCC 0.562000 35 46 0 0 0.021022 0 0 OR52E6 390078 broad.mit.edu 37 11 5863129 5863129 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:5863129C>T ENST00000379946.2 - 2 10 c.11G>A c.(10-12)aGa>aAa p.R4K TRIM5_ENST00000380027.1_Intron Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATAGGCATTCTTTCTGTCAC 0.413000 12 44 0 0 0.013537 0 0 SNTG2 54221 broad.mit.edu 37 2 1243537 1243537 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:1243537C>T ENST00000308624.5 + 11 1006 c.877C>T c.(877-879)Cct>Tct p.P293S SNTG2_ENST00000407292.1_Missense_Mutation_p.P166S NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 293 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) ATGCTGCTCTCCTTCCGACCA 0.478000 7 16 0 0 0.003080 0 0 SLFN13 146857 broad.mit.edu 37 17 33771717 33771717 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:33771717G>A ENST00000285013.6 - 3 1258 c.983C>T c.(982-984)cCc>cTc p.P328L SLFN13_ENST00000360502.2_Missense_Mutation_p.P10L|SLFN13_ENST00000533791.1_Missense_Mutation_p.P328L|SLFN13_ENST00000542635.1_Missense_Mutation_p.P328L|SLFN13_ENST00000534689.1_Missense_Mutation_p.P10L|SLFN13_ENST00000526861.1_Missense_Mutation_p.P328L NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 328 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CCATGACTTGGGAGCTTCCGA 0.468000 28 64 0 0 0.007291 0 0 SYT3 84258 broad.mit.edu 37 19 51132550 51132550 + Splice_Site SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:51132550C>T ENST00000338916.4 - 4 1915 c.e4+1 SYT3_ENST00000600079.1_Splice_Site|SYT3_ENST00000593901.1_Splice_Site|SYT3_ENST00000544769.1_Splice_Site NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GGGCCACTGACCGAGCCGCCC 0.667000 7 12 0 0 0.003080 0 0 THSD1 55901 broad.mit.edu 37 13 52971369 52971369 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:52971369G>A ENST00000349258.4 - 3 1563 c.1019C>T c.(1018-1020)aCa>aTa p.T340I THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.T340I NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 340 TSP type-1. extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ATACAAACCTGTATTTCTCTG 0.313000 14 40 0 0 0.004007 0 0 ZNF662 389114 broad.mit.edu 37 3 42956832 42956832 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:42956832C>T ENST00000541208.1 + 5 1636 c.1267C>T c.(1267-1269)Ctt>Ttt p.L423F KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.L423F|ZNF662_ENST00000328199.6_Missense_Mutation_p.L449F Q6ZS27 ZN662_HUMAN zinc finger protein 662 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) GATCTCTCACCTTCTTGAACA 0.408000 11 28 0 0 0.008291 0 0 TRBV6-9 28598 broad.mit.edu 37 7 142104208 142104208 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:142104208G>A ENST00000390379.1 - 0 256 GTTTGATCTGGATACATTGTA 0.522000 54 138 0 0 0.014410 0 0 KCNS2 3788 broad.mit.edu 37 8 99441498 99441498 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:99441498G>A ENST00000287042.4 + 2 1641 c.1291G>A c.(1291-1293)Gac>Aac p.D431N KCNS2_ENST00000521839.1_Missense_Mutation_p.D431N NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 431 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GCGCAGCTGTGACTTTGGAGA 0.488000 54 86 0 0 0.014410 0 0 IGSF11 152404 broad.mit.edu 37 3 118644973 118644973 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:118644973G>A ENST00000354673.2 - 6 932 c.552C>T c.(550-552)ctC>ctT p.L184L IGSF11_ENST00000489689.1_Silent_p.L185L|IGSF11_ENST00000393775.2_Silent_p.L185L|IGSF11_ENST00000425327.2_Silent_p.L184L|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000491903.1_Silent_p.L185L|IGSF11_ENST00000441144.2_Silent_p.L184L NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 185 Ig-like C2-type. cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GAGGTAGTTTGAGGGTATTGT 0.408000 15 38 0 0 0.004990 0 0 RANBP17 64901 broad.mit.edu 37 5 170667962 170667962 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:170667962C>T ENST00000523189.1 + 23 2617 c.2453C>T c.(2452-2454)tCa>tTa p.S818L RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 818 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGGAGCCTCTCAAAAGATCAG 0.413000 T TRD@ ALL 34 78 0 0 0.019004 0 0 PRPF8 10594 broad.mit.edu 37 17 1558786 1558786 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:1558786G>A ENST00000572621.1 - 36 6110 c.5845C>T c.(5845-5847)Cgg>Tgg p.R1949W PRPF8_ENST00000304992.6_Missense_Mutation_p.R1949W Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1949 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ACTTTTGCCCGATCGTTGTTC 0.517000 70 46 0 0 0.014410 0 0 RTF1 23168 broad.mit.edu 37 15 41745236 41745236 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:41745236C>T ENST00000389629.4 + 3 459 c.447C>T c.(445-447)gcC>gcT p.A149A NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 149 Ser-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) AGAGCTCAGCCCCTGAGGAAG 0.517000 13 33 0 0 0.016723 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145763161 145763161 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:145763161G>A ENST00000377307.2 - 6 2642 c.2558C>T c.(2557-2559)aCt>aTt p.T853I ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000276826.5_Intron|ARHGAP39_ENST00000528810.1_5'UTR NM_025251.1 NP_079527.1 Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 840 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CTTCTTCTTAGTGTTTCTTTC 0.552000 24 81 0 0 0.005443 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756665 49756665 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:49756665G>A ENST00000535833.1 - 10 3684 c.234C>T c.(232-234)ccC>ccT p.P78P RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.P78P|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 78 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCAACCAGCCGGGGCGCAGGC 0.677000 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 60 0 0 0.007291 0 0 TARS2 80222 broad.mit.edu 37 1 150471505 150471505 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:150471505G>A ENST00000369064.3 + 12 1568 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.E430K|TARS2_ENST00000369054.2_Missense_Mutation_p.E382K NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 512 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GGACCAGGCCGAACAGGTGAG 0.562000 35 118 0 0 0.017118 0 0 KDR 3791 broad.mit.edu 37 4 55968659 55968659 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:55968659C>T ENST00000263923.4 - 14 2299 c.2004G>A c.(2002-2004)acG>acA p.T668T NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 668 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTCCTGTGATCGTGGGTGCCA 0.428000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 10 37 0 0 0.013537 0 0 TRPM4 54795 broad.mit.edu 37 19 49705305 49705305 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:49705305C>T ENST00000252826.5 + 20 3164 c.3038C>T c.(3037-3039)tCc>tTc p.S1013F TRPM4_ENST00000427978.2_Missense_Mutation_p.S868F|TRPM4_ENST00000355712.5_Missense_Mutation_p.S659F NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 1013 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) ACCTGCGTCTCCCAGTATGCC 0.617000 52 91 0 0 0.014410 0 0 CBL 867 broad.mit.edu 37 11 119103163 119103163 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:119103163G>A ENST00000264033.4 + 2 577 c.201G>A c.(199-201)gtG>gtA p.V67V NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 67 4H.|Cbl-PTB. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TGCAGGTGGTGCGGTTGTGTC 0.403000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 16 19 0 0 0.004990 0 0 PID1 55022 broad.mit.edu 37 2 229890744 229890744 + Nonsense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:229890744C>T ENST00000392054.3 - 4 690 c.351G>A c.(349-351)tgG>tgA p.W117* PID1_ENST00000409462.1_Nonsense_Mutation_p.W37*|PID1_ENST00000392055.3_Nonsense_Mutation_p.W86*|PID1_ENST00000354069.6_Nonsense_Mutation_p.W119*|PID1_ENST00000482518.2_Intron NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 119 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TGTGCTTCTTCCAGAGCTCAA 0.537000 15 53 0 0 0.004990 0 0 NLRP5 126206 broad.mit.edu 37 19 56515201 56515201 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:56515201C>T ENST00000390649.3 + 2 182 c.182C>T c.(181-183)tCc>tTc p.S61F NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 61 DAPIN. 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) CTCACCTTTTCCAGCTACGGG 0.433000 29 86 0 0 0.009535 0 0 MYO18B 84700 broad.mit.edu 37 22 26423626 26423626 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:26423626G>A ENST00000335473.7 + 43 7936 c.7686G>A c.(7684-7686)aaG>aaA p.K2562K MYO18B_ENST00000536101.1_Silent_p.K2562K|MYO18B_ENST00000407587.2_Silent_p.K2563K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2562 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCATAATGAAGAAATACCTCC 0.567000 7 18 0 0 0.003080 0 0 ZNF883 169834 broad.mit.edu 37 9 115760190 115760190 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:115760190C>T ENST00000427548.1 - 0 1623 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding AGTATGGATTCTCTCATGATT 0.383000 14 32 0 0 0.016723 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7518408 7518408 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:7518408C>T ENST00000593531.1 + 10 1220 c.1220C>T c.(1219-1221)tCa>tTa p.S407L ARHGEF18_ENST00000319670.9_Silent_p.I291I|ARHGEF18_ENST00000359920.6_Silent_p.I449I TCAAAGATATCATCTCACAAG 0.507000 29 49 0 0 0.009535 0 0 C11orf70 85016 broad.mit.edu 37 11 101946634 101946634 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:101946634G>A ENST00000434758.2 + 5 494 c.466G>A c.(466-468)Gaa>Aaa p.E156K C11orf70_ENST00000526781.1_Missense_Mutation_p.E156K|C11orf70_ENST00000534360.1_Silent_p.*100* NM_032930.2 NP_116319.2 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 156 p.E118*(1) breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) AGAAAAATATGAAATATTCAG 0.343000 17 36 0 0 0.010504 0 0 DNAH5 1767 broad.mit.edu 37 5 13839571 13839571 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:13839571C>T ENST00000265104.4 - 35 5880 c.5776G>A c.(5776-5778)Gaa>Aaa p.E1926K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1926 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCAGAATCTTCGTTAAAGTAA 0.383000 Kartagener syndrome 22 50 0 0 0.014323 0 0 TIAM1 7074 broad.mit.edu 37 21 32496914 32496914 + Missense_Mutation SNP G G T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:32496914G>T ENST00000286827.3 - 28 4703 c.4232C>A c.(4231-4233)tCc>tAc p.S1411Y TIAM1_ENST00000541036.1_Missense_Mutation_p.S1351Y NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1411 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 ATATTGCTGGGATGAGGGAAG 0.542000 14 44 4.3838e-07 4.8064e-07 0.016723 1 0 TNFRSF13B 23495 broad.mit.edu 37 17 16855861 16855861 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:16855861G>A ENST00000261652.2 - 2 110 c.98C>T c.(97-99)tCc>tTc p.S33F TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000583789.1_Intron|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.S33F|TNFRSF13B_ENST00000437538.2_Intron NM_012452.2 NP_036584.1 O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 33 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 TTCGGGGCAGGATCTCATAGC 0.617000 IgA Deficiency, Selective 11 28 0 0 0.010729 0 0 ALMS1 7840 broad.mit.edu 37 2 73680499 73680499 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:73680499C>T ENST00000264448.6 + 8 6953 c.6842C>T c.(6841-6843)cCc>cTc p.P2281L ALMS1_ENST00000409009.1_Missense_Mutation_p.P2239L|ALMS1_ENST00000377715.1_Missense_Mutation_p.P2281L NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2281 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TTTCCTGCTCCCCTTGCCCGT 0.398000 14 24 0 0 0.016723 0 0 HIP1 3092 broad.mit.edu 37 7 75174474 75174474 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:75174474G>A ENST00000336926.6 - 26 2598 c.2572C>T c.(2572-2574)Cct>Tct p.P858S HIP1_ENST00000434438.2_Missense_Mutation_p.P807S NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 858 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton p.P860A(1) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 AACTCTTTAGGGGATGCTGTA 0.413000 T PDGFRB CMML 41 110 0 0 0.014410 0 0 CSAG4 100130935 broad.mit.edu 37 X 151896121 151896121 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:151896121G>A ENST00000361201.4 - 0 609 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 CCTTGCCCGGGAATTACTGGC 0.493000 3 7 0 0 0.004672 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3672569 3672569 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:3672569G>A ENST00000344754.4 - 16 4310 c.4311C>T c.(4309-4311)atC>atT p.I1437I SIGLEC1_ENST00000202578.4_Silent_p.I1437I NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1437 Ig-like C2-type 14. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCAACCGCCCGATGGTGCTGA 0.592000 18 81 0 0 0.008871 0 0 AGGF1 55109 broad.mit.edu 37 5 76332495 76332495 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:76332495G>A ENST00000312916.7 + 4 1013 c.631G>A c.(631-633)Gaa>Aaa p.E211K NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 211 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) TAGTTATGATGAAAATACTGG 0.388000 7 494 0 0 0.004482 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862608 25862608 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:25862608C>T ENST00000397060.4 - 3 265 c.156G>A c.(154-156)acG>acA p.T52T SLC17A3_ENST00000361703.6_Silent_p.T52T|SLC17A3_ENST00000360657.3_Silent_p.T52T NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 52 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 TTTGTGCTATCGTTGTGAAAT 0.413000 18 74 0 0 0.008871 0 0 GLYAT 10249 broad.mit.edu 37 11 58491920 58491920 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:58491920G>A ENST00000344743.3 - 2 191 c.50C>T c.(49-51)tCc>tTc p.S17F GLYAT_ENST00000529732.1_Missense_Mutation_p.S17F|GLYAT_ENST00000278400.3_Missense_Mutation_p.S17F NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 17 S -> T (in dbSNP:rs10896818). acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) CTTCCTCAAGGATTTCTCCAG 0.448000 40 120 0 0 0.014410 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125856726 125856726 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:125856726C>T ENST00000393434.2 - 10 1503 c.1154G>A c.(1153-1155)gGg>gAg p.G385E ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G395E|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G284E|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G385E|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G385E NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 385 Acyl carrier. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GATGAAGTCCCCAAAGGTGGA 0.557000 22 48 0 0 0.012319 0 0 SLC4A11 83959 broad.mit.edu 37 20 3208477 3208477 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:3208477C>T ENST00000380059.3 - 20 2814 c.2713G>A c.(2713-2715)Gaa>Aaa p.E905K SLC4A11_ENST00000539553.1_Missense_Mutation_p.E862K|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.E878K NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 878 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 TACTTGGCTTCAATGATTCGG 0.627000 16 40 0 0 0.006122 0 0 OR51B5 282763 broad.mit.edu 37 11 5363907 5363907 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:5363907G>A ENST00000300773.2 - 1 902 c.848C>T c.(847-849)cCa>cTa p.P283L HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTCATTAGTGGAGGGAACAG 0.388000 10 30 0 0 0.010729 0 0 IL10RB 3588 broad.mit.edu 37 21 34668534 34668534 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:34668534C>T ENST00000290200.2 + 7 958 c.850C>T c.(850-852)Cca>Tca p.P284S NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 TTTCTCCTTTCCATTGTCGGA 0.448000 32 118 0 0 0.010818 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364908 30364908 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:30364908G>A ENST00000305596.3 - 5 764 c.589C>T c.(589-591)Cag>Tag p.Q197* CD2BP2_ENST00000569466.1_Nonsense_Mutation_p.Q197* NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 197 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 TCCAGGCGCTGAGGGGAACTG 0.642000 11 13 0 0 0.010729 0 0 TRIM26 7726 broad.mit.edu 37 6 30153703 30153703 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:30153703G>A ENST00000454678.2 - 10 2006 c.1570C>T c.(1570-1572)Ccc>Tcc p.P524S TRIM26_ENST00000453195.1_Missense_Mutation_p.P524S|TRIM26_ENST00000437089.1_Missense_Mutation_p.P524S NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 524 B30.2/SPRY. DNA binding|zinc ion binding lung(1)|ovary(2) 3 CACAGGAAGGGGACCAGGCGC 0.592000 10 46 0 0 0.008291 0 0 TRIP12 9320 broad.mit.edu 37 2 230693983 230693983 + Missense_Mutation SNP A A C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:230693983A>C ENST00000283943.5 - 7 1410 c.1232T>G c.(1231-1233)cTt>cGt p.L411R TRIP12_ENST00000389044.4_Missense_Mutation_p.L459R|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.L114R NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 411 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GTGAGGGGGAAGACCCCTTGC 0.408000 16 40 0 0 0.004990 0 0 KLHL4 56062 broad.mit.edu 37 X 86887330 86887330 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:86887330G>A ENST00000373119.4 + 7 1590 c.1445G>A c.(1444-1446)gGa>gAa p.G482E KLHL4_ENST00000373114.4_Missense_Mutation_p.G482E NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 482 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TATGTCGTGGGAGGAAGAGAC 0.448000 12 17 0 0 0.010729 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651708 84651708 + Missense_Mutation SNP G G A rs146998252 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:84651708G>A ENST00000286744.5 + 21 3552 c.3328G>A c.(3328-3330)Gga>Aga p.G1110R ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1110R NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1110 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CATGGAAACCGGAGAGGTCAG 0.498000 22 67 0 0 0.012319 0 0 NEU2 4759 broad.mit.edu 37 2 233899687 233899687 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:233899687G>A ENST00000233840.3 + 2 1063 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 355 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GTGTCTGTACGAAGCCAATGA 0.577000 59 163 0 0 0.014410 0 0 IFNW1 3467 broad.mit.edu 37 9 21141465 21141465 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:21141465C>T ENST00000380229.2 - 1 679 c.105G>A c.(103-105)agG>agA p.R35R NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 35 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCAAGGTGTTCCTGCTAAGTA 0.527000 43 63 0 0 0.014410 0 0 PTEN 5728 broad.mit.edu 37 10 89720876 89720876 + Splice_Site SNP G G C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:89720876G>C ENST00000371953.3 + 8 2383 c.e8+1 PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(7)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.D326_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AAATTTTAAGGTCAGTTAAAT 0.323000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 3 38 0 0 0.009096 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799733 159799733 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:159799733C>T ENST00000289707.5 + 2 267 c.118C>T c.(118-120)Ccc>Tcc p.P40S SLAMF8_ENST00000368104.4_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 40 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) GGCAGCGCGTCCCCCTGGCTT 0.597000 128 137 0 0 0.014410 0 0 XKR6 286046 broad.mit.edu 37 8 10756279 10756279 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:10756279G>A ENST00000416569.2 - 3 1135 c.1109C>T c.(1108-1110)tCc>tTc p.S370F XKR6_ENST00000304437.2_Missense_Mutation_p.S91F NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 370 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GATCACTCGGGATGAGATGGT 0.537000 35 85 0 0 0.019004 0 0 COL5A3 50509 broad.mit.edu 37 19 10092784 10092784 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:10092784C>T ENST00000264828.3 - 32 2502 c.2417G>A c.(2416-2418)gGa>gAa p.G806E NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 806 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACCGGGAAATCCAATAGATCC 0.537000 9 26 0 0 0.006214 0 0 FBXO18 84893 broad.mit.edu 37 10 5948180 5948180 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:5948180C>T ENST00000379999.5 + 4 595 c.491C>T c.(490-492)tCa>tTa p.S164L FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.S113L|FBXO18_ENST00000470089.1_3'UTR NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 113 F-box. DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GGGCCGGGCTCACCAGGGTCT 0.602000 20 36 0 0 0.012319 0 0 KCNB1 3745 broad.mit.edu 37 20 47990100 47990100 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:47990100G>A ENST00000371741.4 - 2 2163 c.1997C>T c.(1996-1998)cCt>cTt p.P666L NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 666 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAGCTTCAAAGGGTTGTTAGT 0.547000 23 81 0 0 0.018920 0 0 MYO18B 84700 broad.mit.edu 37 22 26242175 26242175 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:26242175G>A ENST00000335473.7 + 19 3727 c.3477G>A c.(3475-3477)atG>atA p.M1159I MYO18B_ENST00000536101.1_Missense_Mutation_p.M1159I|MYO18B_ENST00000407587.2_Missense_Mutation_p.M1160I NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1159 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGAGCCGCATGGTGAGGAGGA 0.662000 13 31 0 0 0.004007 0 0 VPS13D 55187 broad.mit.edu 37 1 12337566 12337566 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:12337566G>A ENST00000358136.3 + 19 4051 c.3921G>A c.(3919-3921)atG>atA p.M1307I VPS13D_ENST00000356315.4_Missense_Mutation_p.M1307I NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1307 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CGTTATCCATGGATGAACTGG 0.418000 28 54 0 0 0.007291 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985455 140985455 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:140985455C>T ENST00000298296.1 + 8 1769 c.1769C>T c.(1768-1770)tCc>tTc p.S590F MAGEC3_ENST00000409007.1_Silent_p.I339I|MAGEC3_ENST00000536088.1_Silent_p.I339I|MAGEC3_ENST00000443323.2_Silent_p.I259I|MAGEC3_ENST00000544766.1_Silent_p.I339I NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 590 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GAGTTTTTATCCAAGCTATCC 0.478000 36 44 0 0 0.021022 0 0 UIMC1 51720 broad.mit.edu 37 5 176396036 176396036 + Silent SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:176396036A>G ENST00000377219.2 - 6 886 c.720T>C c.(718-720)ggT>ggC p.G240G UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Silent_p.G240G|UIMC1_ENST00000377227.4_Silent_p.G240G NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 240 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAAAGCAGAACCCCTCCCAG 0.527000 44 77 0 0 0.014410 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228600 57228600 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:57228600C>T ENST00000396721.2 - 2 437 c.307G>A c.(307-309)Gaa>Aaa p.E103K SDR16C5_ENST00000522671.1_Missense_Mutation_p.E103K|SDR16C5_ENST00000303749.3_Missense_Mutation_p.E103K Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 103 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 TACACTCCTTCCTTTTGGCTG 0.448000 25 111 0 0 0.007291 0 0 MUC16 94025 broad.mit.edu 37 19 9070263 9070263 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9070263G>A ENST00000397910.4 - 3 17386 c.17183C>T c.(17182-17184)tCt>tTt p.S5728F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5730 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCATGTCCAGAAATGGAGGT 0.498000 30 59 0 0 0.007291 0 0 TRBV24-1 28563 broad.mit.edu 37 7 142364537 142364537 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:142364537C>T ENST00000390397.2 + 0 208 TCGACAAGACCCAGGACTGGG 0.453000 6 24 0 0 0.001984 0 0 CXorf36 79742 broad.mit.edu 37 X 45010966 45010966 + Missense_Mutation SNP C C A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:45010966C>A ENST00000398000.2 - 5 1307 c.1233G>T c.(1231-1233)agG>agT p.R411S CXorf36_ENST00000477281.1_5'UTR NM_176819.3 NP_789789.2 Q9H7Y0 CX036_HUMAN chromosome X open reading frame 36 411 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 TTCTCAGGGGCCTCAAGATGT 0.532000 35 52 1.22674e-20 1.36081e-20 0.008740 1 0 CNTN5 53942 broad.mit.edu 37 11 99827607 99827607 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:99827607C>T ENST00000524871.1 + 8 1033 c.743C>T c.(742-744)tCc>tTc p.S248F CNTN5_ENST00000527185.1_Missense_Mutation_p.S248F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S248F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S248F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S174F NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 248 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CGGTTCATCTCCCAGGAGACA 0.423000 15 43 0 0 0.007413 0 0 LOC644669 644669 broad.mit.edu 37 18 15323340 15323340 + RNA SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:15323340A>G ENST00000455308.2 - 0 508 NR_027417.1 CTTATGGCCAATAAAAGTGGT 0.299000 3 10 0 0 0.009096 0 0 TLR4 7099 broad.mit.edu 37 9 120466753 120466753 + Translation_Start_Site SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:120466753G>A ENST00000394487.4 + 0 144 TLR4_ENST00000355622.6_Start_Codon_SNP_p.M1I|TLR4_ENST00000472304.1_3'UTR NM_003266.3 NP_003257.1 O00206 TLR4_HUMAN toll-like receptor 4 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ATGCCAGGATGATGTCTGCCT 0.602000 10 32 0 0 0.008291 0 0 RPL18 6141 broad.mit.edu 37 19 49120620 49120620 + Silent SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:49120620A>G ENST00000549273.1 - 3 184 c.151T>C c.(151-153)Ttg>Ctg p.L51L RPL18_ENST00000552588.1_Silent_p.L22L|RPL18_ENST00000550645.1_Silent_p.L51L|RPL18_ENST00000549920.1_Silent_p.L51L Q07020 RL18_HUMAN ribosomal protein L18 51 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome cervix(1)|kidney(2) 3 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154) CTCATAAACAACCTCTTCAAC 0.567000 55 133 0 0 0.014410 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788613 140788613 + Nonsense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:140788613C>T ENST00000520790.1 + 1 844 c.844C>T c.(844-846)Cga>Tga p.R282* PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACTACTTCCGAAGCACTGC 0.428000 28 43 0 0 0.006320 0 0 UNC5CL 222643 broad.mit.edu 37 6 41002663 41002663 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:41002663C>T ENST00000244565.3 - 2 239 c.151G>A c.(151-153)Gaa>Aaa p.E51K UNC5CL_ENST00000373164.1_Missense_Mutation_p.E51K NM_173561.2 NP_775832.2 Q8IV45 UN5CL_HUMAN unc-5 homolog C (C. elegans)-like 51 signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) GACACTGGTTCCTCTTGACCA 0.592000 22 73 0 0 0.014323 0 0 IGLV3-22 28795 broad.mit.edu 37 22 23047219 23047219 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:23047219G>A ENST00000390307.2 + 0 321 TCCACCTCAGGGAACACGACC 0.557000 16 28 0 0 0.003163 0 0 OR4X1 390113 broad.mit.edu 37 11 48285898 48285898 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:48285898C>T ENST00000320048.1 + 1 486 c.486C>T c.(484-486)ttC>ttT p.F162F NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TCCTGATTTTCCAGCTCCCGT 0.562000 11 36 0 0 0.010729 0 0 FBN3 84467 broad.mit.edu 37 19 8206852 8206852 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:8206852G>A ENST00000600128.1 - 7 1125 c.711C>T c.(709-711)atC>atT p.I237I FBN3_ENST00000270509.2_Silent_p.I237I|FBN3_ENST00000601739.1_Silent_p.I237I Q75N90 FBN3_HUMAN fibrillin 3 237 TB 1. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGATATTGGGGATGAAGCCGC 0.627000 20 36 0 0 0.014323 0 0 GH1 2688 broad.mit.edu 37 17 61995482 61995482 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:61995482G>A ENST00000323322.5 - 3 228 c.186C>T c.(184-186)atC>atT p.I62I CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Intron|GH1_ENST00000458650.2_Intron NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 62 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 GTTCCTTTGGGATATAGGCTT 0.517000 63 167 0 0 0.014410 0 0 PSD 5662 broad.mit.edu 37 10 104176318 104176318 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:104176318G>A ENST00000020673.5 - 2 1004 c.478C>T c.(478-480)Ccc>Tcc p.P160S PSD_ENST00000406432.1_Missense_Mutation_p.P160S NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 160 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CCTCTGGCGGGGAGTGGGTCT 0.657000 4 6 0 0 0.014758 0 0 LAMB3 3914 broad.mit.edu 37 1 209803960 209803960 + Splice_Site SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:209803960T>C ENST00000391911.1 - 8 1332 c.943_splice c.e8+1 p.R315_splice LAMB3_ENST00000356082.4_Splice_Site_p.R315_splice|LAMB3_ENST00000367030.3_Splice_Site_p.R315_splice NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 315 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AAGCTCCTACTTTGGCATTCA 0.612000 20 77 0 0 0.014323 0 0 GRXCR2 643226 broad.mit.edu 37 5 145246227 145246227 + Missense_Mutation SNP G G T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:145246227G>T ENST00000377976.1 - 2 400 c.401C>A c.(400-402)aCc>aAc p.T134N NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 134 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GTCCATTGGGGTTCGAATGAT 0.403000 26 63 9.78306e-22 1.0865e-21 0.009535 1 0 CD163L1 283316 broad.mit.edu 37 12 7528513 7528513 + Missense_Mutation SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:7528513A>T ENST00000313599.3 - 10 2526 c.2469T>A c.(2467-2469)gaT>gaA p.D823E CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.D823E|CD163L1_ENST00000416109.2_Missense_Mutation_p.D833E Q9NR16 C163B_HUMAN CD163 molecule-like 1 823 SRCR 8. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GAAGAGAGAAATCAGAATCAC 0.488000 10 76 0 0 0.013537 0 0 USP29 57663 broad.mit.edu 37 19 57640569 57640569 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:57640569G>A ENST00000254181.4 + 4 980 c.526G>A c.(526-528)Gat>Aat p.D176N USP29_ENST00000598197.1_Missense_Mutation_p.D176N NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 176 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACTATCATCTGATGTACAGAC 0.353000 27 57 0 0 0.005443 0 0 ZNF749 388567 broad.mit.edu 37 19 57956182 57956182 + Missense_Mutation SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:57956182T>C ENST00000334181.4 + 3 1916 c.1666T>C c.(1666-1668)Tat>Cat p.Y556H AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) GCCAAGGCCTTATGTGTGTAG 0.453000 24 47 0 0 0.014323 0 0 NUDT16 131870 broad.mit.edu 37 3 131100667 131100667 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:131100667C>T ENST00000521288.1 + 1 50 c.19C>T c.(19-21)Ctg>Ttg p.L7L NUDT16_ENST00000537561.1_Intron|NUDT16_ENST00000502852.1_Silent_p.L7L|NUDT16_ENST00000359850.3_5'UTR Q96DE0 NUD16_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 16 7 nucleolus|nucleoplasm hydrolase activity|metal ion binding|RNA binding large_intestine(1)|lung(6) 7 AGCCCGCAGGCTGGAGCTAGG 0.716000 3 5 0 0 0.004672 0 0 GDPD4 220032 broad.mit.edu 37 11 76982221 76982221 + Silent SNP G G A rs139482139 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:76982221G>A ENST00000315938.4 - 6 604 c.354C>T c.(352-354)atC>atT p.I118I GDPD4_ENST00000376217.2_Silent_p.I118I NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 118 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding p.I118I(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 GCCAGAAAAGGATAACCATCA 0.488000 11 48 0 0 0.013537 0 0 HCN4 10021 broad.mit.edu 37 15 73636054 73636054 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:73636054G>A ENST00000261917.3 - 2 1874 c.881C>T c.(880-882)cCc>cTc p.P294L NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 294 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GACAATCCAGGGTGTGGTGTT 0.502000 17 55 0 0 0.004007 0 0 ANAPC1 64682 broad.mit.edu 37 2 112621364 112621364 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:112621364G>A ENST00000341068.3 - 9 1712 c.940C>T c.(940-942)Cct>Tct p.P314S NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 314 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GAAGTCACAGGGGAATCTCCT 0.493000 11 32 0 0 0.013537 0 0 MYH15 22989 broad.mit.edu 37 3 108127247 108127247 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:108127247C>T ENST00000273353.3 - 33 4616 c.4560G>A c.(4558-4560)gaG>gaA p.E1520E NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1520 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GATTAGAAATCTCTTCTGGAG 0.418000 22 40 0 0 0.014323 0 0 MAPRE2 10982 broad.mit.edu 37 18 32677441 32677441 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:32677441C>T ENST00000436190.2 + 4 520 c.246C>T c.(244-246)ctC>ctT p.L82L MAPRE2_ENST00000589699.1_Silent_p.L51L|MAPRE2_ENST00000300249.5_Silent_p.L94L|MAPRE2_ENST00000588910.1_Silent_p.L94L|MAPRE2_ENST00000538170.2_Silent_p.L41L|MAPRE2_ENST00000413393.1_Silent_p.L51L NM_001143827.2 NP_001137299.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 94 CH. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 TGGACATGCTCTTCCCTGGCT 0.418000 30 65 0 0 0.010818 0 0 PCDH1 5097 broad.mit.edu 37 5 141236975 141236975 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:141236975G>A ENST00000287008.3 - 4 3308 c.3161C>T c.(3160-3162)tCc>tTc p.S1054F PCDH1_ENST00000503492.1_Missense_Mutation_p.S322F NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) ACTGTGCTGGGATGGGTCCTG 0.622000 5 23 0 0 0.001984 0 0 ERN1 2081 broad.mit.edu 37 17 62132152 62132152 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:62132152G>A ENST00000433197.2 - 14 1804 c.1709C>T c.(1708-1710)tCc>tTc p.S570F NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 570 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GGGACAGAAGGAAATTTTCCC 0.488000 7 6 0 0 0.001984 0 0 COL7A1 1294 broad.mit.edu 37 3 48614163 48614163 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:48614163G>A ENST00000328333.8 - 67 5753 c.5646C>T c.(5644-5646)atC>atT p.I1882I COL7A1_ENST00000454817.1_Intron NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1882 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGGTCCAAGGATACCAGGAG 0.602000 3 17 0 0 0.009096 0 0 IGLV2-18 28814 broad.mit.edu 37 22 23077342 23077342 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:23077342C>T ENST00000390310.2 + 0 132 GTCACCATCTCCTGCACTGGA 0.542000 75 219 0 0 0.014410 0 0 MEGF8 1954 broad.mit.edu 37 19 42860510 42860510 + Missense_Mutation SNP C C A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:42860510C>A ENST00000334370.4 + 25 4961 c.4326C>A c.(4324-4326)caC>caA p.H1442Q MEGF8_ENST00000251268.6_Missense_Mutation_p.H1509Q NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1509 EGF-like 4. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GCTTCCTGCACCGCCTGGGCC 0.652000 10 23 7.03913e-09 7.76277e-09 0.013537 1 0 CD300LD 100131439 broad.mit.edu 37 17 72584677 72584677 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:72584677C>T ENST00000375352.1 - 2 432 c.352G>A c.(352-354)Gtc>Atc p.V118I C17orf77_ENST00000392620.1_Intron NM_001115152.1 NP_001108624.1 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d 118 Ig-like V-type. integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 TGAACTTTGACCCCAAGATCA 0.483000 25 73 0 0 0.021523 0 0 RYR3 6263 broad.mit.edu 37 15 34109108 34109108 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:34109108G>A ENST00000389232.4 + 75 10618 c.10548G>A c.(10546-10548)tgG>tgA p.W3516* RYR3_ENST00000415757.3_Nonsense_Mutation_p.W3511* NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3516 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGAGATTTTGGATAGAAACAG 0.458000 6 16 0 0 0.001984 0 0 LAMC2 3918 broad.mit.edu 37 1 183204779 183204779 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:183204779C>T ENST00000264144.4 + 16 2435 c.2370C>T c.(2368-2370)ctC>ctT p.L790L LAMC2_ENST00000493293.1_Silent_p.L790L NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 790 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 AACAAGCCCTCTCACTGGTGC 0.517000 OREG0014042 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 25 0 0 0.014323 0 0 PTPRF 5792 broad.mit.edu 37 1 44056778 44056778 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:44056778C>T ENST00000359947.4 + 9 1425 c.1085C>T c.(1084-1086)cCc>cTc p.P362L PTPRF_ENST00000438120.1_Missense_Mutation_p.P362L|PTPRF_ENST00000372414.3_Missense_Mutation_p.P362L|PTPRF_ENST00000372413.3_Missense_Mutation_p.P362L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 362 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACGGAGGGCCCCTTTCAGGAG 0.622000 35 69 0 0 0.005524 0 0 C6 729 broad.mit.edu 37 5 41195920 41195920 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:41195920G>A ENST00000263413.3 - 5 825 c.561C>T c.(559-561)atC>atT p.I187I C6_ENST00000337836.5_Silent_p.I187I NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 187 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GTACACTAGGGATGGGATTAT 0.428000 25 63 0 0 0.006320 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23058222 23058222 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:23058222G>A ENST00000221132.3 - 5 745 c.681C>T c.(679-681)atC>atT p.I227I NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 227 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) GGACACACTCGATGTCACTCC 0.587000 34 110 0 0 0.005524 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048421 42048421 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:42048421G>A ENST00000372584.1 - 3 3062 c.2048C>T c.(2047-2049)cCa>cTa p.P683L HIVEP3_ENST00000247584.5_Missense_Mutation_p.P683L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P683L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P683L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 683 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TTCAGCTTCTGGAGATGTGTG 0.498000 38 81 0 0 0.008740 0 0 KERA 11081 broad.mit.edu 37 12 91449444 91449444 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:91449444C>T ENST00000266719.3 - 2 862 c.615G>A c.(613-615)agG>agA p.R205R NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 205 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GAGGCATATTCCTCAGGGCAT 0.368000 33 39 0 0 0.015359 0 0 DMXL1 1657 broad.mit.edu 37 5 118487677 118487677 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:118487677C>T ENST00000311085.8 + 19 4728 c.4648C>T c.(4648-4650)Cat>Tat p.H1550Y DMXL1_ENST00000539542.1_Missense_Mutation_p.H1550Y NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1550 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) TGTTCGACTCCATACCTTTCT 0.373000 17 58 0 0 0.012319 0 0 POTEC 388468 broad.mit.edu 37 18 14542924 14542924 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:14542924C>T ENST00000358970.5 - 1 221 c.222G>A c.(220-222)ggG>ggA p.G74G POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 74 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCGTGCCGCTCCCCCTGCAGC 0.567000 27 236 0 0 0.005443 0 0 LCE2C 353140 broad.mit.edu 37 1 152648614 152648614 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:152648614C>T ENST00000368783.1 + 2 178 c.123C>T c.(121-123)ttC>ttT p.F41F LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 41 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCCATGTTTCCCTGCAGTCT 0.627000 80 99 0 0 0.014410 0 0 NT5C1A 84618 broad.mit.edu 37 1 40126934 40126934 + Splice_Site SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:40126934C>T ENST00000235628.1 - 5 557 c.556_splice c.e5-1 p.G186_splice NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 186 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAGCTGCGATCCCTAGGCAGA 0.607000 9 25 0 0 0.006214 0 0 USP11 8237 broad.mit.edu 37 X 47103918 47103918 + Silent SNP C C T rs137968498 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:47103918C>T ENST00000377107.2 + 14 2166 c.1812C>T c.(1810-1812)aaC>aaT p.N604N USP11_ENST00000218348.3_Silent_p.N647N P51784 UBP11_HUMAN ubiquitin specific peptidase 11 647 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CCAAACCCAACTCAGATGATG 0.547000 17 23 0 0 0.010504 0 0 ZAN 7455 broad.mit.edu 37 7 100350369 100350369 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:100350369C>T ENST00000542585.1 + 0 2789 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACTCACCATCCCCACGGAAAA 0.502000 39 79 0 0 0.021022 0 0 SACS 26278 broad.mit.edu 37 13 23906647 23906647 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:23906647G>A ENST00000382298.3 - 10 11956 c.11368C>T c.(11368-11370)Cag>Tag p.Q3790* SACS_ENST00000382292.3_Nonsense_Mutation_p.Q3790*|SACS_ENST00000402364.1_Nonsense_Mutation_p.Q3040* NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3790 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCTCGCAACTGAAAACGAAAT 0.383000 18 39 0 0 0.007413 0 0 SSPO 23145 broad.mit.edu 37 7 149474280 149474280 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:149474280C>T ENST00000378016.2 + 0 324 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) CAGCCCTTGCCAAAGCCAGTC 0.622000 4 9 0 0 0.009096 0 0 MC2R 4158 broad.mit.edu 37 18 13884968 13884968 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:13884968G>A ENST00000327606.3 - 2 730 c.550C>T c.(550-552)Ctg>Ttg p.L184L NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 184 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) ACCAGCATCAGCGGGAACAGC 0.562000 15 59 0 0 0.020292 0 0 POLQ 10721 broad.mit.edu 37 3 121264614 121264614 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:121264614G>A ENST00000264233.5 - 1 239 c.111C>T c.(109-111)tcC>tcT p.S37S NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 37 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) GGCTCAGCACGGACCCGGAGA 0.706000 DNA polymerases (catalytic subunits) 5 14 0 0 0.014758 0 0 BRINP2 57795 broad.mit.edu 37 1 177250510 177250510 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:177250510C>T ENST00000361539.4 + 8 2510 c.2198C>T c.(2197-2199)cCt>cTt p.P733L FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 733 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CTTTCTCCACCTGGCAAAGTC 0.542000 24 88 0 0 0.018920 0 0 TMTC4 84899 broad.mit.edu 37 13 101289912 101289912 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:101289912G>A ENST00000342624.5 - 9 1137 c.879C>T c.(877-879)acC>acT p.T293T TMTC4_ENST00000376234.3_Silent_p.T274T|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.T163T NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 274 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGGTGAGCAGGGTCATTCTGA 0.607000 27 77 0 0 0.009535 0 0 MUC16 94025 broad.mit.edu 37 19 9083416 9083416 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9083416C>T ENST00000397910.4 - 1 8602 c.8399G>A c.(8398-8400)gGa>gAa p.G2800E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2800 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTTCTGATTCCTCCAGAGCT 0.507000 10 15 0 0 0.006214 0 0 CST1 1469 broad.mit.edu 37 20 23729758 23729758 + Silent SNP C C T rs146690838 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:23729758C>T ENST00000304749.2 - 2 307 c.237G>A c.(235-237)ggG>ggA p.G79G CST1_ENST00000398402.1_Silent_p.G79G NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 79 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) AATTCACCCCCCCAACGGTCT 0.567000 61 210 0 0 0.014410 0 0 CADM3 57863 broad.mit.edu 37 1 159169545 159169545 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:159169545C>T ENST00000368125.4 + 8 1114 c.957C>T c.(955-957)ccC>ccT p.P319P CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.P353P|CTA-134P22.2_ENST00000415675.2_RNA NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 319 adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TTCCAGACCCCAGTCCGGTGC 0.537000 19 69 0 0 0.018920 0 0 LINC00207 388910 broad.mit.edu 37 22 44966445 44966445 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:44966445G>A ENST00000605505.1 + 0 223 NR_028409.1 lung(3) 3 TGAACCAGAGGGGAACACCGT 0.502000 4 27 0 0 0.009096 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418651 105418651 + Missense_Mutation SNP A A C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:105418651A>C ENST00000333244.5 - 7 3256 c.3137T>G c.(3136-3138)cTc>cGc p.L1046R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1046 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) CTGAATGCTGAGGTCAGTGGT 0.617000 55 79 0 0 0.014410 0 0 PDS5A 23244 broad.mit.edu 37 4 39851153 39851153 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:39851153G>A ENST00000303538.8 - 27 3745 c.3206C>T c.(3205-3207)tCc>tTc p.S1069F NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 1069 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 ATTTGTCTTGGATTCATCTGG 0.353000 20 74 0 0 0.012319 0 0 OBSCN 84033 broad.mit.edu 37 1 228491482 228491482 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:228491482G>A ENST00000570156.2 + 52 13919 c.13845G>A c.(13843-13845)cgG>cgA p.R4615R OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.R1305R|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3658 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGGAGTGGCGGAAGGGGTCTG 0.607000 62 105 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179605128 179605128 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:179605128G>A ENST00000589042.1 - 48 13056 c.12832C>T c.(12832-12834)Cct>Tct p.P4278S TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3915S|TTN_ENST00000342175.6_Missense_Mutation_p.P4107S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4040S|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P3961S|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3961 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGACATCAGGACTCTGGAGA 0.463000 7 31 0 0 0.001984 0 0 ZNF18 7566 broad.mit.edu 37 17 11894356 11894356 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:11894356G>A ENST00000322748.3 - 5 1116 c.512C>T c.(511-513)tCc>tTc p.S171F ZNF18_ENST00000580306.1_Missense_Mutation_p.S171F|ZNF18_ENST00000580613.1_Missense_Mutation_p.S120F|ZNF18_ENST00000454073.3_Missense_Mutation_p.S171F NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 171 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) AGGCCCTGAGGATGAATTCTC 0.522000 153 84 0 0 0.014410 0 0 PTPRB 5787 broad.mit.edu 37 12 70983782 70983782 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:70983782C>T ENST00000334414.6 - 8 2056 c.2012G>A c.(2011-2013)gGa>gAa p.G671E PTPRB_ENST00000551525.1_Missense_Mutation_p.G670E|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.G671E|PTPRB_ENST00000538708.1_Missense_Mutation_p.G453E|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Missense_Mutation_p.G453E NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 453 Fibronectin type-III 8. 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) CTTCAAATTTCCACTCTCAAC 0.453000 OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 65 0 0 0.006999 0 0 BRINP3 339479 broad.mit.edu 37 1 190424010 190424010 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:190424010C>T ENST00000367462.3 - 2 242 c.11G>A c.(10-12)cGa>cAa p.R4Q FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 4 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGCTCTGCTTCGCCATATCAT 0.463000 20 29 0 0 0.014323 0 0 CSMD2 114784 broad.mit.edu 37 1 34208985 34208985 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:34208985C>T ENST00000373381.4 - 14 2245 c.2069G>A c.(2068-2070)gGa>gAa p.G690E NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 650 Sushi 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AAGCTGGTTTCCTGAGAAGGT 0.587000 31 43 0 0 0.009535 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367213 234367213 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:234367213G>A ENST00000366618.3 + 3 479 c.334G>A c.(334-336)Gcc>Acc p.A112T SLC35F3_ENST00000366617.3_Missense_Mutation_p.A43T NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 43 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CCAGGCACCGGCCGGGGTGGA 0.736000 16 31 0 0 0.007413 0 0 DRC1 92749 broad.mit.edu 37 2 26677552 26677552 + Missense_Mutation SNP C C T rs139106371 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:26677552C>T ENST00000288710.2 + 15 2031 c.1957C>T c.(1957-1959)Cgt>Tgt p.R653C NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) GAAGAATGTGCGTGACAACTC 0.587000 6 84 0 0 0.001984 0 0 NAV2 89797 broad.mit.edu 37 11 19955584 19955584 + Silent SNP C C G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:19955584C>G ENST00000396085.1 + 7 2155 c.1794C>G c.(1792-1794)ctC>ctG p.L598L NAV2_ENST00000349880.4_Silent_p.L598L|NAV2_ENST00000540292.1_Silent_p.L552L|NAV2_ENST00000396087.3_Silent_p.L621L|NAV2_ENST00000527559.2_Silent_p.L550L|NAV2_ENST00000360655.4_Silent_p.L534L NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 621 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GCTCAGGACTCCCCCAGCAGA 0.617000 17 34 0 0 0.007413 0 0 CD163L1 283316 broad.mit.edu 37 12 7528442 7528442 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:7528442C>T ENST00000313599.3 - 10 2597 c.2540G>A c.(2539-2541)gGa>gAa p.G847E CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.G847E|CD163L1_ENST00000416109.2_Missense_Mutation_p.G857E Q9NR16 C163B_HUMAN CD163 molecule-like 1 847 SRCR 8. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.G847V(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AAAGTGATCTCCCACAGAAAG 0.463000 21 84 0 0 0.014323 0 0 OR9K2 441639 broad.mit.edu 37 12 55524101 55524101 + Silent SNP T T A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:55524101T>A ENST00000305377.5 + 1 637 c.549T>A c.(547-549)atT>atA p.I183I NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 GCTCAGTTATTCAGACTAGCA 0.453000 36 35 0 0 0.019004 0 0 RYR1 6261 broad.mit.edu 37 19 38980829 38980829 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:38980829C>T ENST00000355481.4 + 36 6059 c.5928C>T c.(5926-5928)cgC>cgT p.R1976R RYR1_ENST00000359596.3_Silent_p.R1976R|RYR1_ENST00000360985.3_Silent_p.R1976R NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1976 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCGGAGCCGCTATGGCCTCC 0.602000 11 34 0 0 0.013537 0 0 LAMA3 3909 broad.mit.edu 37 18 21526119 21526119 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:21526119C>T ENST00000313654.9 + 70 9463 c.9222C>T c.(9220-9222)ggC>ggT p.G3074G LAMA3_ENST00000269217.6_Silent_p.G1465G|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.G1409G|LAMA3_ENST00000399516.3_Silent_p.G3018G NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 3074 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGTGTTTGGCCATGATGGGG 0.443000 16 87 0 0 0.006122 0 0 MKL1 57591 broad.mit.edu 37 22 40819553 40819553 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:40819553G>A ENST00000396617.3 - 9 1204 c.614C>T c.(613-615)cCc>cTc p.P205L MKL1_ENST00000402042.1_Intron|MKL1_ENST00000407029.1_Missense_Mutation_p.P205L|MKL1_ENST00000355630.3_Missense_Mutation_p.P205L Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 205 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 AATGAGTGTGGGGGTGGACTT 0.572000 T RBM15 acute megakaryocytic leukemia 15 39 0 0 0.003163 0 0 MT3 4504 broad.mit.edu 37 16 56623498 56623498 + Missense_Mutation SNP T T G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:56623498T>G ENST00000561640.1 + 2 177 c.131T>G c.(130-132)cTc>cGc p.L44R MT3_ENST00000570176.1_5'UTR|MT3_ENST00000200691.4_5'UTR|MT3_ENST00000565838.1_Intron|MT3_ENST00000566576.1_3'UTR P25713 MT3_HUMAN metallothionein 3 0 Alpha. cell proliferation|cellular metal ion homeostasis|removal of superoxide radicals|response to hypoxia synaptic vesicle antioxidant activity|copper ion binding|zinc ion binding central_nervous_system(1)|large_intestine(1) 2 GCTGCTCTCCTCGACATGGAC 0.657000 14 42 0 0 0.004990 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 34 76 3.62531e-18 4.01677e-18 0.019004 1 0 OR1N2 138882 broad.mit.edu 37 9 125315488 125315488 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:125315488G>A ENST00000373688.2 + 1 98 c.40G>A c.(40-42)Ggg>Agg p.G14R NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CGAACTACAAGGGATGGGAAA 0.453000 27 69 0 0 0.004656 0 0 XIRP2 129446 broad.mit.edu 37 2 168101126 168101126 + Missense_Mutation SNP A A C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:168101126A>C ENST00000409195.1 + 9 3313 c.3224A>C c.(3223-3225)gAa>gCa p.E1075A XIRP2_ENST00000295237.9_Missense_Mutation_p.E1075A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E853A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 900 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATGTGGAAGAAACAGAAAGT 0.348000 7 15 0 0 0.001984 0 0 MCTP1 79772 broad.mit.edu 37 5 94353169 94353169 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:94353169C>T ENST00000515393.1 - 2 739 c.740G>A c.(739-741)gGa>gAa p.G247E MCTP1_ENST00000312216.8_Missense_Mutation_p.G26E|MCTP1_ENST00000505208.1_Missense_Mutation_p.G26E|MCTP1_ENST00000429576.2_Missense_Mutation_p.G26E NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 247 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ATTACTGGTTCCAGCAGTGTT 0.378000 30 46 0 0 0.008361 0 0 ANKHD1 54882 broad.mit.edu 37 5 139905704 139905704 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:139905704C>T ENST00000297183.6 + 26 4740 c.4616C>T c.(4615-4617)cCc>cTc p.P1539L ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1539L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1539L NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGACAACTCCCAGCACCAAT 0.413000 50 106 0 0 0.014410 0 0 ABCB1 5243 broad.mit.edu 37 7 87179824 87179824 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:87179824C>T ENST00000265724.3 - 12 1601 c.1184G>A c.(1183-1185)aGa>aAa p.R395K ABCB1_ENST00000543898.1_Missense_Mutation_p.R331K NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 395 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GTGAACATTTCTGAATTCCAA 0.313000 18 55 0 0 0.008871 0 0 BACH1 571 broad.mit.edu 37 21 30693751 30693751 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:30693751C>T ENST00000399921.1 + 2 393 c.150C>T c.(148-150)tcC>tcT p.S50S BACH1_ENST00000286800.3_Silent_p.S50S NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 50 BTB. nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 CTCACCGGTCCGTGCTGGCGG 0.527000 19 60 0 0 0.010504 0 0 HPR 3250 broad.mit.edu 37 16 72107798 72107798 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:72107798G>A ENST00000540303.2 + 2 45 c.13G>A c.(13-15)Gga>Aga p.G5R HPR_ENST00000561690.1_Missense_Mutation_p.G5R|HPR_ENST00000356967.5_Missense_Mutation_p.G5R|HPR_ENST00000228226.8_Missense_Mutation_p.G42R NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 5 proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) CAGTGACCTGGGAGCTGTCAT 0.512000 34 100 0 0 0.007835 0 0 CCDC181 57821 broad.mit.edu 37 1 169390915 169390915 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:169390915G>A ENST00000545005.1 - 4 1261 c.754C>T c.(754-756)Cct>Tct p.P252S CCDC181_ENST00000367805.3_Missense_Mutation_p.P252S|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.P252S coiled-coil domain containing 181 AACTGCTGAGGGTCATTTTCT 0.418000 52 66 0 0 0.014410 0 0 MKLN1 4289 broad.mit.edu 37 7 131149126 131149126 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:131149126C>T ENST00000352689.6 + 14 1787 c.1747C>T c.(1747-1749)Cca>Tca p.P583S MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.P491S NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 583 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) AGAACCATGTCCAAGGTTTGC 0.408000 7 26 0 0 0.006214 0 0 SLC35F3 148641 broad.mit.edu 37 1 234454656 234454656 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:234454656G>A ENST00000366618.3 + 6 1259 c.1114G>A c.(1114-1116)Gga>Aga p.G372R SLC35F3_ENST00000366617.3_Missense_Mutation_p.G303R NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 303 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CATTCCATGGGGAAACCTTTG 0.423000 87 143 0 0 0.014410 0 0 IRF7 3665 broad.mit.edu 37 11 612716 612716 + Missense_Mutation SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:612716A>G ENST00000397566.1 - 9 1889 c.1480T>C c.(1480-1482)Tgc>Cgc p.C494R IRF7_ENST00000397574.2_Missense_Mutation_p.C481R|IRF7_ENST00000397570.1_Missense_Mutation_p.C452R|IRF7_ENST00000348655.6_Missense_Mutation_p.C452R|IRF7_ENST00000525445.1_Missense_Mutation_p.C375R|IRF7_ENST00000397562.3_Missense_Mutation_p.C188R|IRF7_ENST00000330243.5_Missense_Mutation_p.C494R NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 481 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGACAGGCAGAGGCTGAGG 0.602000 20 48 0 0 0.012319 0 0 DNAH7 56171 broad.mit.edu 37 2 196788411 196788411 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:196788411G>A ENST00000312428.6 - 23 3833 c.3733C>T c.(3733-3735)Cat>Tat p.H1245Y NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1245 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCTCTAGCATGGACATCCAGT 0.413000 9 40 0 0 0.004482 0 0 ADCY4 196883 broad.mit.edu 37 14 24787742 24787742 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:24787742G>A ENST00000310677.4 - 26 3227 c.3114C>T c.(3112-3114)tcC>tcT p.S1038S ADCY4_ENST00000418030.2_Silent_p.S1038S|ADCY4_ENST00000554068.2_Silent_p.S1038S NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 1038 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TGTAGCCCAGGGACTGTAGGG 0.577000 20 51 0 0 0.014323 0 0 PDE8A 5151 broad.mit.edu 37 15 85669540 85669540 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:85669540C>T ENST00000310298.4 + 21 2440 c.2188C>T c.(2188-2190)Ccc>Tcc p.P730S PDE8A_ENST00000339708.5_Missense_Mutation_p.P684S|PDE8A_ENST00000557957.1_Missense_Mutation_p.P658S|PDE8A_ENST00000394553.1_Missense_Mutation_p.P730S O60658 PDE8A_HUMAN phosphodiesterase 8A 730 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TGTGTCCAATCCCTGCCGACC 0.448000 51 57 0 0 0.014410 0 0 RELN 5649 broad.mit.edu 37 7 103281034 103281034 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:103281034G>A ENST00000428762.1 - 17 2184 c.2025C>T c.(2023-2025)ctC>ctT p.L675L RELN_ENST00000343529.5_Silent_p.L675L|RELN_ENST00000424685.2_Silent_p.L675L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 675 EGF-like 1. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AACAGAATTTGAGACATGACG 0.363000 8 25 0 0 0.004482 0 0 UGT1A6 54578 broad.mit.edu 37 2 234680923 234680923 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:234680923C>T ENST00000305139.6 + 5 1456 c.1317C>T c.(1315-1317)atC>atT p.I439I UGT1A5_ENST00000373414.3_Silent_p.I441I|UGT1A6_ENST00000373424.1_Silent_p.I172I|UGT1A7_ENST00000373426.3_Silent_p.I437I|UGT1A8_ENST00000373450.4_Silent_p.I437I|UGT1A9_ENST00000354728.4_Silent_p.I437I|UGT1A3_ENST00000482026.1_Silent_p.I441I|UGT1A4_ENST00000373409.3_Silent_p.I441I|UGT1A1_ENST00000305208.5_Silent_p.I440I|UGT1A10_ENST00000344644.5_Silent_p.I437I NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) AGGAGAACATCATGCGCCTCT 0.537000 8 37 0 0 0.003080 0 0 PIWIL1 9271 broad.mit.edu 37 12 130830321 130830321 + Nonsense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:130830321C>T ENST00000245255.3 + 4 486 c.214C>T c.(214-216)Cag>Tag p.Q72* NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 72 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TGCTGGATTTCAGGAGTTATC 0.373000 12 25 0 0 0.013537 0 0 ZNF679 168417 broad.mit.edu 37 7 63720636 63720636 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:63720636C>T ENST00000421025.1 + 3 346 c.77C>T c.(76-78)tCt>tTt p.S26F ZNF679_ENST00000255746.4_Missense_Mutation_p.S26F NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ATAGAATTCTCTCTGGAGGAG 0.418000 25 51 0 0 0.016522 0 0 GPR124 25960 broad.mit.edu 37 8 37692876 37692876 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:37692876C>T ENST00000412232.2 + 12 1806 c.1793C>T c.(1792-1794)aCc>aTc p.T598I GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 598 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CGCTGCACCACCGGGAGGCCC 0.687000 9 23 0 0 0.008291 0 0 FCN2 2220 broad.mit.edu 37 9 137776591 137776591 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:137776591C>T ENST00000350339.2 + 3 174 c.160C>T c.(160-162)Cct>Tct p.P54S FCN2_ENST00000291744.6_Missense_Mutation_p.P92S NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 92 Collagen-like. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) AACAGGAGCACCTGGGGAGCC 0.617000 8 32 0 0 0.006214 0 0 ARID4B 51742 broad.mit.edu 37 1 235346091 235346091 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:235346091C>T ENST00000264183.3 - 20 2640 c.2143G>A c.(2143-2145)Gaa>Aaa p.E715K ARID4B_ENST00000349213.3_Missense_Mutation_p.E629K|ARID4B_ENST00000366603.2_Missense_Mutation_p.E715K NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 715 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TCACTGTCTTCAGCAGAACTT 0.363000 45 35 0 0 0.014410 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795495 142795495 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:142795495C>T ENST00000370498.1 - 2 936 c.183G>A c.(181-183)acG>acA p.T61T NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 61 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AATTTATTTTCGTATGCTTCC 0.443000 58 58 0 0 0.014410 0 0 RASEF 158158 broad.mit.edu 37 9 85627360 85627360 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:85627360C>T ENST00000376447.3 - 5 1092 c.832G>A c.(832-834)Gat>Aat p.D278N NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 278 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 ATTGATAAATCATAAATTTGT 0.363000 6 22 0 0 0.001984 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120944 38120944 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:38120944C>T ENST00000406386.3 + 7 2636 c.2381C>T c.(2380-2382)tCc>tTc p.S794F RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 794 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCCAGAACATCCTGTGCCCAG 0.532000 28 77 0 0 0.008361 0 0 CLPS 1208 broad.mit.edu 37 6 35765054 35765054 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:35765054G>A ENST00000259938.2 - 1 34 c.12C>T c.(10-12)atC>atT p.I4I NM_001832.3 NP_001823.1 P04118 COL_HUMAN colipase, pancreatic 4 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region large_intestine(2)|lung(2)|prostate(1) 5 GGAGGATCAGGATCTTCTCCA 0.607000 17 87 0 0 0.007413 0 0 TGM3 7053 broad.mit.edu 37 20 2308917 2308917 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:2308917C>T ENST00000381458.5 + 9 1302 c.1239C>T c.(1237-1239)tcC>tcT p.S413S NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 413 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GGAAGAATTCCGTGAACAGTC 0.537000 15 74 0 0 0.003163 0 0 PAX4 5078 broad.mit.edu 37 7 127253841 127253841 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:127253841G>A ENST00000341640.2 - 4 712 c.507C>T c.(505-507)ttC>ttT p.F169F PAX4_ENST00000463946.1_Silent_p.F167F|PAX4_ENST00000338516.3_Silent_p.F177F|PAX4_ENST00000378740.2_Silent_p.F169F NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 177 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGCTTGGGGAGAAGATAGTCC 0.612000 36 71 0 0 0.005524 0 0 CCDC158 339965 broad.mit.edu 37 4 77324342 77324342 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:77324342C>T ENST00000388914.3 - 2 171 c.19G>A c.(19-21)Gaa>Aaa p.E7K CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Missense_Mutation_p.E7K NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 7 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TTATTTGATTCCCAAGCTTTT 0.323000 12 30 0 0 0.003163 0 0 TDRD6 221400 broad.mit.edu 37 6 46660361 46660361 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:46660361C>T ENST00000544460.1 + 1 4750 c.4496C>T c.(4495-4497)tCt>tTt p.S1499F TDRD6_ENST00000316081.6_Missense_Mutation_p.S1499F NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1499 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AGTTCAAAGTCTGTTAACAAA 0.358000 15 48 0 0 0.003163 0 0 AQR 9716 broad.mit.edu 37 15 35202393 35202393 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:35202393G>A ENST00000156471.5 - 17 1831 c.1606C>T c.(1606-1608)Cgt>Tgt p.R536C NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 536 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) ACATCTGCACGAACTCGGGTT 0.448000 39 97 0 0 0.009718 0 0 DHX9 1660 broad.mit.edu 37 1 182845222 182845222 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:182845222C>T ENST00000367549.3 + 17 1963 c.1853C>T c.(1852-1854)cCa>cTa p.P618L NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 618 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GAATATGGTCCAGAAACAAGG 0.388000 17 61 0 0 0.004990 0 0 CEP89 84902 broad.mit.edu 37 19 33406264 33406264 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:33406264G>A ENST00000305768.4 - 14 1632 c.1544C>T c.(1543-1545)tCa>tTa p.S515L NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 515 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 ATTCACAATTGATTTATGAAC 0.393000 24 60 0 0 0.004656 0 0 ATP10D 57205 broad.mit.edu 37 4 47561023 47561023 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:47561023C>T ENST00000273859.3 + 13 2787 c.2518C>T c.(2518-2520)Cgt>Tgt p.R840C AC092597.3_ENST00000508081.1_RNA NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 840 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ACAAGGCCTTCGTACTTTATG 0.418000 23 58 0 0 0.014323 0 0 NUP210L 91181 broad.mit.edu 37 1 154090314 154090314 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:154090314C>T ENST00000368559.3 - 12 1578 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K NUP210L_ENST00000271854.3_Missense_Mutation_p.E503K NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 503 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ACCACTGTTTCATTAGAAGAA 0.408000 43 41 0 0 0.011902 0 0 OR52E2 119678 broad.mit.edu 37 11 5080058 5080058 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:5080058C>T ENST00000321522.2 - 1 799 c.800G>A c.(799-801)cGa>cAa p.R267Q NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GGGCACATTTCGGCCAAAGCG 0.478000 16 49 0 0 0.004990 0 0 OSBPL10 114884 broad.mit.edu 37 3 31725152 31725152 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:31725152G>A ENST00000396556.2 - 8 1822 c.1700C>T c.(1699-1701)tCc>tTc p.S567F OSBPL10_ENST00000438237.2_Missense_Mutation_p.S503F NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 567 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GACCCCCACGGACATGCCCAT 0.478000 37 101 0 0 0.007835 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21794283 21794283 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:21794283C>T ENST00000206660.6 + 16 2661 c.2661C>T c.(2659-2661)ggC>ggT p.G887G RPGRIP1_ENST00000557771.1_Silent_p.G849G|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Silent_p.G887G|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Silent_p.G246G Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 887 C2. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CGTATCTTGGCCGAGCCCGAG 0.483000 10 23 0 0 0.008291 0 0 C1orf168 199920 broad.mit.edu 37 1 57258104 57258104 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:57258104C>T ENST00000343433.6 - 2 462 c.382G>A c.(382-384)Gaa>Aaa p.E128K C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 128 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 ATTACTTTTTCCTTAGTGATT 0.428000 53 94 0 0 0.014410 0 0 EMR3 84658 broad.mit.edu 37 19 14765866 14765866 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:14765866C>T ENST00000253673.5 - 6 605 c.505G>A c.(505-507)Gaa>Aaa p.E169K EMR3_ENST00000443157.2_Intron|EMR3_ENST00000344373.4_Missense_Mutation_p.E117K|EMR3_ENST00000599900.1_Intron NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 169 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 ACTTTCGATTCCACATCCCGG 0.408000 35 65 0 0 0.015359 0 0 CHD9 80205 broad.mit.edu 37 16 53331032 53331032 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:53331032C>T ENST00000566029.1 + 30 5884 c.5675C>T c.(5674-5676)tCc>tTc p.S1892F CHD9_ENST00000398510.3_Missense_Mutation_p.S1892F|CHD9_ENST00000564845.1_Missense_Mutation_p.S1892F|CHD9_ENST00000447540.1_Missense_Mutation_p.S1892F Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1892 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GCATTCATGTCCATGTGTCGG 0.373000 34 100 0 0 0.005524 0 0 RGPD4 285190 broad.mit.edu 37 2 108488640 108488640 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:108488640C>T ENST00000408999.3 + 20 4257 c.4180C>T c.(4180-4182)Cgt>Tgt p.R1394C RGPD4_ENST00000354986.4_Missense_Mutation_p.R1394C NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1394 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TAAGCAAGTTCGTATAGTGAT 0.358000 101 224 0 0 0.014410 0 0 LTBP3 4054 broad.mit.edu 37 11 65315177 65315177 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:65315177C>T ENST00000301873.5 - 13 2230 c.1962G>A c.(1960-1962)ggG>ggA p.G654G LTBP3_ENST00000532932.1_Silent_p.G84G|LTBP3_ENST00000536982.1_Silent_p.G280G|LTBP3_ENST00000322147.4_Silent_p.G654G NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 654 Cys-rich.|EGF-like 4; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 ACGAGCGCCCCCCGGCGCCCA 0.736000 9 14 0 0 0.004482 0 0 PTPRT 11122 broad.mit.edu 37 20 40710567 40710567 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:40710567G>A ENST00000373198.3 - 31 4528 c.4293C>T c.(4291-4293)atC>atT p.I1431I PTPRT_ENST00000373201.1_Silent_p.I1399I|PTPRT_ENST00000373190.1_Silent_p.I1408I|PTPRT_ENST00000356100.2_Silent_p.I1418I|PTPRT_ENST00000373184.1_Silent_p.I1419I|PTPRT_ENST00000373187.1_Silent_p.I1409I|PTPRT_ENST00000373193.3_Silent_p.I1412I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1409 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) GTGTTTTCACGATGTGGAACA 0.502000 31 82 0 0 0.013726 0 0 PXDNL 137902 broad.mit.edu 37 8 52567284 52567284 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:52567284C>T ENST00000356297.4 - 2 301 c.201G>A c.(199-201)ggG>ggA p.G67G PXDNL_ENST00000543296.1_Silent_p.G67G NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 67 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) TGAAGGCGCTCCCTGGAATTT 0.373000 16 35 0 0 0.004990 0 0 NLRP3 114548 broad.mit.edu 37 1 247587738 247587738 + Silent SNP C C T rs104895401 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:247587738C>T ENST00000366497.2 + 4 1773 c.993C>T c.(991-993)ctC>ctT p.L331L NLRP3_ENST00000391828.3_Silent_p.L331L|NLRP3_ENST00000336119.3_Silent_p.L331L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.L331L|NLRP3_ENST00000391827.2_Silent_p.L331L|NLRP3_ENST00000348069.2_Silent_p.L331L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 331 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.L331L(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAGACATTCTCCTGAGCAGCC 0.582000 30 102 0 0 0.007291 0 0 MRPS28 28957 broad.mit.edu 37 8 80831226 80831226 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:80831226G>A ENST00000276585.4 - 3 575 c.553C>T c.(553-555)Cat>Tat p.H185Y MRPS28_ENST00000521434.1_Missense_Mutation_p.H123Y|MRPS28_ENST00000521605.1_3'UTR NM_014018.2 NP_054737.1 Q9Y2Q9 RT28_HUMAN mitochondrial ribosomal protein S28 185 mitochondrial small ribosomal subunit endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06) BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805) TATTTTTCATGATGTTCTTCT 0.363000 30 55 0 0 0.019004 0 0 TRPM1 4308 broad.mit.edu 37 15 31294925 31294925 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:31294925G>A ENST00000542188.1 - 27 4342 c.4029C>T c.(4027-4029)ttC>ttT p.F1343F TRPM1_ENST00000397795.2_Silent_p.F1304F|TRPM1_ENST00000256552.6_Silent_p.F1326F|RP11-348B17.1_ENST00000561299.1_RNA NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1304 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CCTTTATACGGAAGGAACAGG 0.453000 26 78 0 0 0.005443 0 0 OR51F2 119694 broad.mit.edu 37 11 4842868 4842868 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:4842868C>T ENST00000322110.5 + 1 318 c.253C>T c.(253-255)Ctg>Ttg p.L85L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCCACAGACCTGAGCTTGTC 0.473000 42 102 0 0 0.006999 0 0 ZNF98 148198 broad.mit.edu 37 19 22575475 22575475 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:22575475C>T ENST00000357774.5 - 4 683 c.562G>A c.(562-564)Gaa>Aaa p.E188K NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AATGACTTTTCACATTCTTTA 0.308000 5 6 0 0 0.001984 0 0 CD5 921 broad.mit.edu 37 11 60886998 60886998 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:60886998G>A ENST00000347785.3 + 5 922 c.756G>A c.(754-756)agG>agA p.R252R NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 252 SRCR 2. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) ATTGCTTCAGGAAAATCAAGC 0.572000 16 34 0 0 0.006122 0 0 ADGRE4P 326342 broad.mit.edu 37 19 6981158 6981158 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:6981158C>T ENST00000600751.1 - 0 521 NR_024075.1 TGCTCAACTCCACGCTTTGAA 0.393000 7 19 0 0 0.001984 0 0 XDH 7498 broad.mit.edu 37 2 31611135 31611135 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:31611135C>T ENST00000379416.3 - 7 570 c.522G>A c.(520-522)ggG>ggA p.G174G XDH_ENST00000491727.1_5'UTR NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 174 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTGGATTATTCCCATCTCCTC 0.443000 26 64 0 0 0.008361 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217185 150217185 + Missense_Mutation SNP A A C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:150217185A>C ENST00000313543.4 + 2 280 c.123A>C c.(121-123)caA>caC p.Q41H NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 41 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTGCTGCCCAAGCTGTTACCA 0.502000 13 44 0 0 0.020292 0 0 CXorf21 80231 broad.mit.edu 37 X 30577862 30577862 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:30577862G>A ENST00000378962.3 - 3 933 c.611C>T c.(610-612)cCt>cTt p.P204L NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 204 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 ATTAGAAATAGGATTCTGCAT 0.423000 34 51 0 0 0.021022 0 0 TTN 7273 broad.mit.edu 37 2 179603068 179603068 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:179603068C>T ENST00000589042.1 - 49 14336 c.14112G>A c.(14110-14112)agG>agA p.R4704R TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.R4341R|TTN_ENST00000342175.6_Silent_p.R4533R|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.R4466R|TTN_ENST00000342992.6_Silent_p.R3460R|TTN_ENST00000591111.1_Silent_p.R4387R|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4387 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTCGATTTTCCTCTTGATCA 0.468000 10 22 0 0 0.006214 0 0 SAV1 60485 broad.mit.edu 37 14 51132229 51132229 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:51132229G>A ENST00000324679.4 - 2 566 c.203C>T c.(202-204)tCa>tTa p.S68L NM_021818.3 NP_068590.1 Q9H4B6 SAV1_HUMAN salvador homolog 1 (Drosophila) 68 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1)|kidney(2)|lung(2)|prostate(1) 6 all_epithelial(31;0.000611)|Breast(41;0.0333) CTGGTTTCTTGAAACTACATC 0.403000 6 21 0 0 0.001984 0 0 DSCAM 1826 broad.mit.edu 37 21 41414576 41414576 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:41414576G>A ENST00000400454.1 - 32 5885 c.5408C>T c.(5407-5409)tCc>tTc p.S1803F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1803 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ACTTTCTGTGGAGACCATGCT 0.542000 18 46 0 0 0.004990 0 0 CYP2C9 1559 broad.mit.edu 37 10 96708999 96708999 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:96708999C>T ENST00000260682.6 + 5 789 c.777C>T c.(775-777)aaC>aaT p.N259N NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 259 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) ACATGAACAACCCTCAGGACT 0.333000 14 21 0 0 0.003163 0 0 DDIT4L 115265 broad.mit.edu 37 4 101109086 101109086 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:101109086C>T ENST00000273990.2 - 3 544 c.330G>A c.(328-330)gtG>gtA p.V110V RP11-15B17.1_ENST00000515026.1_RNA NM_145244.3 NP_660287.1 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 110 negative regulation of signal transduction cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2) 12 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) TTTCCAAGTTCACGTGCATAA 0.463000 14 38 0 0 0.016723 0 0 PAPPA2 60676 broad.mit.edu 37 1 176681030 176681030 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:176681030C>T ENST00000367662.3 + 12 4875 c.3711C>T c.(3709-3711)ccC>ccT p.P1237P NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1237 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCTGGTTTCCCTGTGTTGCCA 0.453000 22 75 0 0 0.014323 0 0 ANKS1B 56899 broad.mit.edu 37 12 100219094 100219094 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:100219094C>T ENST00000547776.2 - 2 207 c.208G>A c.(208-210)Gga>Aga p.G70R ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G70R NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 70 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TACTTATGTCCATTTAAGGCT 0.438000 9 8 0 0 0.010729 0 0 FZD5 7855 broad.mit.edu 37 2 208632177 208632177 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:208632177G>A ENST00000295417.3 - 2 1840 c.1287C>T c.(1285-1287)atC>atT p.I429I NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 429 angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) TGACGCTGCGGATGCGGAAGA 0.647000 11 30 0 0 0.008291 0 0 TNR 7143 broad.mit.edu 37 1 175328850 175328850 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:175328850C>T ENST00000367674.1 - 15 3580 c.2872G>A c.(2872-2874)Gat>Aat p.D958N TNR_ENST00000263525.2_Missense_Mutation_p.D958N NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 958 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCAATCAGATCCACAGGGTTG 0.463000 24 26 0 0 0.004656 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43837663 43837663 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:43837663G>A ENST00000389420.3 - 16 2220 c.2221C>T c.(2221-2223)Ccc>Tcc p.P741S ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P741S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 741 Spacer. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GCTCCTGCGGGAATCTTTACA 0.373000 33 61 0 0 0.021022 0 0 TENM1 10178 broad.mit.edu 37 X 123517662 123517662 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:123517662G>A ENST00000422452.2 - 30 7182 c.7119C>T c.(7117-7119)ttC>ttT p.F2373F STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.F2366F NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATTTAGTAAGGAAATCATAGA 0.408000 27 30 0 0 0.006320 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375832 93375832 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:93375832G>A ENST00000375765.3 - 2 666 c.278C>T c.(277-279)tCc>tTc p.S93F NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 93 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CTCCTCCAAGGACTGTCGGCT 0.582000 33 83 0 0 0.010818 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47230265 47230265 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:47230265C>T ENST00000300404.2 + 4 696 c.637C>T c.(637-639)Cca>Tca p.P213S B4GALNT2_ENST00000504681.1_Missense_Mutation_p.P127S|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.P153S NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 213 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GGTTCCCATCCCAGGTAAGTA 0.592000 3 16 0 0 0.009096 0 0 CNGA2 1260 broad.mit.edu 37 X 150906979 150906979 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:150906979G>A ENST00000329903.4 + 1 57 c.24G>A c.(22-24)gtG>gtA p.V8V NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 8 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CCAATGGTGTGAAGAGCTCCC 0.522000 46 81 0 0 0.014410 0 0 STAC 6769 broad.mit.edu 37 3 36526476 36526476 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:36526476G>A ENST00000273183.3 + 4 797 c.497G>A c.(496-498)gGg>gAg p.G166E STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 166 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CAGCCAAAGGGGTTTCGGCGT 0.463000 14 34 0 0 0.003163 0 0 OR4A47 403253 broad.mit.edu 37 11 48511046 48511046 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:48511046C>T ENST00000446524.1 + 1 778 c.702C>T c.(700-702)gcC>gcT p.A234A NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GGCAAAAAGCCCTCTCAACCT 0.433000 39 78 0 0 0.019004 0 0 LOC440040 440040 broad.mit.edu 37 11 49598212 49598212 + RNA SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:49598212T>C ENST00000527477.1 + 0 816 TTCCTTCTGCTCCAAGAAGCC 0.493000 13 18 0 0 0.016723 0 0 TRAV1-2 28692 broad.mit.edu 37 14 22111558 22111558 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:22111558G>A ENST00000390423.2 + 0 162 AGCCCACTGAGATGACAGCTA 0.493000 19 61 0 0 0.007413 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986647 11986647 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:11986647C>T ENST00000434078.2 + 0 608 NR_027425.1 GGAGCCAAATCGTCACAGAGG 0.552000 10 79 0 0 0.020292 0 0 CAPN13 92291 broad.mit.edu 37 2 30954249 30954249 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:30954249G>A ENST00000295055.8 - 21 2120 c.1944C>T c.(1942-1944)ctC>ctT p.L648L CAPN13_ENST00000534090.2_Silent_p.L648L NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 648 EF-hand 2. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CATCCTTAGAGAGGTTGCGGA 0.557000 8 19 0 0 0.004482 0 0 TECTA 7007 broad.mit.edu 37 11 121008170 121008170 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:121008170C>T ENST00000392793.1 + 11 3253 c.2982C>T c.(2980-2982)atC>atT p.I994I TECTA_ENST00000264037.2_Silent_p.I994I O75443 TECTA_HUMAN tectorin alpha 994 TIL 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGGAGTGCATCACATGTACAG 0.537000 25 29 0 0 0.005443 0 0 DNAH5 1767 broad.mit.edu 37 5 13885137 13885137 + Missense_Mutation SNP G G A rs143673459 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:13885137G>A ENST00000265104.4 - 19 3048 c.2944C>T c.(2944-2946)Cgc>Tgc p.R982C CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 982 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATACGTTTGCGAATGGCCTCT 0.438000 Kartagener syndrome 25 46 0 0 0.021523 0 0 SCN11A 11280 broad.mit.edu 37 3 38949448 38949448 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:38949448G>A ENST00000302328.3 - 10 1663 c.1465C>T c.(1465-1467)Caa>Taa p.Q489* SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Q489*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.Q489*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.Q489* NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 489 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACCTTTTTTTGGCAATCTTCA 0.383000 22 49 0 0 0.018920 0 0 OR1B1 347169 broad.mit.edu 37 9 125390894 125390894 + Silent SNP G G C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:125390894G>C ENST00000304833.3 - 1 958 c.921C>G c.(919-921)ctC>ctG p.L307L RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 GCAGCCTGCAGAGTGCACCCT 0.473000 24 33 0 0 0.021523 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52131203 52131203 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:52131203G>A ENST00000222107.4 - 5 1019 c.881C>T c.(880-882)tCc>tTc p.S294F SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S294F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S294F|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S294F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S294F O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 294 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CCCGGTATTGGAGATGGGGGT 0.622000 29 70 0 0 0.008361 0 0 MEGF8 1954 broad.mit.edu 37 19 42840432 42840432 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:42840432C>T ENST00000334370.4 + 6 1813 c.1178C>T c.(1177-1179)tCc>tTc p.S393F MEGF8_ENST00000251268.6_Missense_Mutation_p.S393F NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 393 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ACTGGCCACTCCATGGTGTTC 0.657000 11 28 0 0 0.010729 0 0 RAD51D 5892 broad.mit.edu 37 17 33443910 33443910 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:33443910G>A ENST00000590016.1 - 3 490 c.291C>T c.(289-291)ttC>ttT p.F97F RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000360276.3_Intron|RAD51D_ENST00000590380.1_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000460118.2_Intron|RAD51D_ENST00000394589.4_Intron|RAD51D_ENST00000345365.6_Intron NM_001142571.1 NP_001136043.1 O75771 RA51D_HUMAN RAD51 paralog D 88 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ctcgttcatcgaaagcattca 0.493000 Direct reversal of damage 3 7 0 0 0.004672 0 0 RELN 5649 broad.mit.edu 37 7 103126741 103126741 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:103126741C>T ENST00000428762.1 - 61 10045 c.9886G>A c.(9886-9888)Ggg>Agg p.G3296R RELN_ENST00000343529.5_Missense_Mutation_p.G3296R|RELN_ENST00000424685.2_Missense_Mutation_p.G3296R|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3296 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCAGCTGCCCACAGCCACTT 0.512000 24 62 0 0 0.006320 0 0 CDYL 9425 broad.mit.edu 37 6 4735069 4735069 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:4735069C>T ENST00000328908.5 + 3 308 c.177C>T c.(175-177)ccC>ccT p.P59P Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 59 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) AGCAGCCTCCCGCTTTACAGG 0.552000 34 53 0 0 0.013726 0 0 GBE1 2632 broad.mit.edu 37 3 81810613 81810613 + Missense_Mutation SNP T T A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:81810613T>A ENST00000429644.2 - 1 699 c.56A>T c.(55-57)aAt>aTt p.N19I NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 19 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) CAGGGCGGCATTGAGCGCCGC 0.672000 Glycogen Storage Disease, type IV 9 25 0 0 0.004482 0 0 POU6F2 11281 broad.mit.edu 37 7 39379543 39379543 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:39379543C>T ENST00000518318.2 + 5 856 c.814C>T c.(814-816)Ccc>Tcc p.P272S POU6F2_ENST00000403058.1_Missense_Mutation_p.P272S|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P264S P78424 PO6F2_HUMAN POU class 6 homeobox 2 272 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gagctccagccccCCGCAGAA 0.622000 19 46 0 0 0.008871 0 0 CUX1 1523 broad.mit.edu 37 7 101882657 101882657 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:101882657C>T ENST00000360264.3 + 23 3733 c.3713C>T c.(3712-3714)tCt>tTt p.S1238F CUX1_ENST00000550008.2_Missense_Mutation_p.S1171F|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.S1227F|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.S1069F|CUX1_ENST00000549414.2_Missense_Mutation_p.S1205F|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.S1125F NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1227 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GAACCGCCCTCTGTCGGCACC 0.662000 14 24 0 0 0.004990 0 0 CA1 759 broad.mit.edu 37 8 86244781 86244781 + Splice_Site SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:86244781C>T ENST00000523953.1 - 7 1497 c.450_splice c.e7-1 p.V151_splice CA1_ENST00000256119.5_Splice_Site_p.V151_splice|CA1_ENST00000432364.2_Splice_Site_p.V151_splice|CA1_ENST00000431316.1_Splice_Site_p.V151_splice|CA1_ENST00000542576.1_Splice_Site_p.V151_splice|CA1_ENST00000523022.1_Splice_Site_p.V151_splice|CA1_ENST00000522389.1_Intron P00915 CAH1_HUMAN carbonic anhydrase I 151 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) GCCTCACCAACCTGGAGATTT 0.328000 8 33 0 0 0.006214 0 0 LTBP3 4054 broad.mit.edu 37 11 65315176 65315176 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:65315176C>T ENST00000301873.5 - 13 2231 c.1963G>A c.(1963-1965)Ggg>Agg p.G655R LTBP3_ENST00000532932.1_Missense_Mutation_p.G85R|LTBP3_ENST00000536982.1_Missense_Mutation_p.G281R|LTBP3_ENST00000322147.4_Missense_Mutation_p.G655R NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 655 Cys-rich.|EGF-like 4; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CACGAGCGCCCCCCGGCGCCC 0.741000 9 14 0 0 0.004482 0 0 ABCD3 5825 broad.mit.edu 37 1 94956754 94956754 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:94956754C>T ENST00000370214.4 + 16 1361 c.1337C>T c.(1336-1338)cCt>cTt p.P446L ABCD3_ENST00000536817.1_Missense_Mutation_p.P373L|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.P470L|ABCD3_ENST00000394233.2_Missense_Mutation_p.P336L NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 446 ABC transporter. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) GATCATGTTCCTTTAGCAACG 0.269000 14 29 0 0 0.004007 0 0 FAM47B 170062 broad.mit.edu 37 X 34961104 34961104 + Silent SNP G G A rs79825675 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:34961104G>A ENST00000329357.5 + 1 192 c.156G>A c.(154-156)acG>acA p.T52T NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 52 p.T52T(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TATTTGTGACGGAGGGCATGG 0.552000 14 28 0 0 0.004007 0 0 MYH2 4620 broad.mit.edu 37 17 10433037 10433037 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:10433037C>T ENST00000245503.5 - 24 3345 c.2961G>A c.(2959-2961)gaG>gaA p.E987E MYH2_ENST00000397183.2_Silent_p.E987E|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 987 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GACCTGCCATCTCTTCTGTGA 0.493000 108 87 0 0 0.014410 0 0 KEL 3792 broad.mit.edu 37 7 142643320 142643320 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:142643320C>T ENST00000355265.2 - 11 1762 c.1288G>A c.(1288-1290)Gcc>Acc p.A430T KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 430 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GGGCCAAAGGCCTCACGAACA 0.582000 9 36 0 0 0.006214 0 0 ARNTL2 56938 broad.mit.edu 37 12 27573445 27573445 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:27573445G>A ENST00000544915.1 + 16 2008 c.1789G>A c.(1789-1791)Gac>Aac p.D597N ARNTL2_ENST00000311001.5_Missense_Mutation_p.D617N|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000266503.5_Missense_Mutation_p.D631N|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Missense_Mutation_p.D583N|ARNTL2_ENST00000542388.1_Missense_Mutation_p.D546N|ARNTL2_ENST00000395901.2_Missense_Mutation_p.D594N NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 631 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) GGACTTCAGTGACATCCAGTG 0.418000 61 47 0 0 0.014410 0 0 ZNFX1 57169 broad.mit.edu 37 20 47881295 47881295 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:47881295G>A ENST00000396105.1 - 5 2355 c.2109C>T c.(2107-2109)ttC>ttT p.F703F ZNFX1_ENST00000371752.1_Silent_p.F703F|ZNFX1_ENST00000371754.4_Silent_p.F703F NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 703 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGTTGCGGCGGAATTCCCGCT 0.522000 43 128 0 0 0.009718 0 0 SPATA21 374955 broad.mit.edu 37 1 16736178 16736178 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:16736178C>T ENST00000335496.1 - 6 987 c.505G>A c.(505-507)Ggc>Agc p.G169S SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.G146S NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 169 Pro-rich. calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) AGGGCAGGGCCCAGCAGGACA 0.697000 11 18 0 0 0.016723 0 0 CSH2 1443 broad.mit.edu 37 17 61949558 61949558 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:61949558C>T ENST00000392886.2 - 5 733 c.582G>A c.(580-582)aaG>aaA p.K194K CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.K137K|CSH2_ENST00000345366.7_Silent_p.K99K NM_020991.3 NP_066271.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 194 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 TGTCCATGTCCTTCCTGAAGC 0.562000 45 106 0 0 0.014410 0 0 MYO9B 4650 broad.mit.edu 37 19 17267820 17267820 + Missense_Mutation SNP T T G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:17267820T>G ENST00000595618.1 + 7 1453 c.1301T>G c.(1300-1302)gTg>gGg p.V434G MYO9B_ENST00000397274.2_Missense_Mutation_p.V434G|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Missense_Mutation_p.V434G NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 434 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CCACCCGAGGTGCTGGACACC 0.592000 10 27 0 0 0.008291 0 0 MAU2 23383 broad.mit.edu 37 19 19466529 19466529 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:19466529C>T ENST00000392313.5 + 19 1826 c.1780C>T c.(1780-1782)Cca>Tca p.P594S MAU2_ENST00000262815.8_Missense_Mutation_p.P594S NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 594 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 GACAGACGGTCCACCCCCCGT 0.637000 30 66 0 0 0.010818 0 0 DYM 54808 broad.mit.edu 37 18 46645158 46645158 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:46645158G>A ENST00000269445.6 - 15 2159 c.1702C>T c.(1702-1704)Cga>Tga p.R568* RP11-15F12.3_ENST00000585251.1_RNA|DYM_ENST00000442713.2_Nonsense_Mutation_p.R378* NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 568 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 GGATGAGTTCGAAATTGTTCA 0.358000 10 17 0 0 0.010729 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55341405 55341405 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:55341405G>A ENST00000391728.4 + 8 1161 c.1128G>A c.(1126-1128)gaG>gaA p.E376E KIR3DL1_ENST00000541392.1_Silent_p.E359E|KIR3DL1_ENST00000326542.7_Silent_p.E359E|KIR3DL1_ENST00000358178.4_Silent_p.E281E|KIR3DL1_ENST00000538269.1_Silent_p.E376E|KIR3DL1_ENST00000402254.2_Intron NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) TGGACCAAGAGCCTGCAGGGA 0.527000 45 112 0 0 0.014410 0 0 FPR3 2359 broad.mit.edu 37 19 52327420 52327420 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:52327420G>A ENST00000339223.4 + 2 598 c.419G>A c.(418-420)aGt>aAt p.S140N FPR3_ENST00000595991.1_Missense_Mutation_p.S140N NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 140 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 CGCACCATGAGTCTGGCCAAG 0.488000 19 34 0 0 0.008871 0 0 SLMAP 7871 broad.mit.edu 37 3 57882648 57882648 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:57882648C>T ENST00000383718.3 + 15 1525 c.1427C>T c.(1426-1428)tCc>tTc p.S476F SLMAP_ENST00000295951.3_Missense_Mutation_p.S463F|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.S463F|SLMAP_ENST00000495364.1_Missense_Mutation_p.S14F|SLMAP_ENST00000494088.1_Missense_Mutation_p.S14F|SLMAP_ENST00000449503.2_Missense_Mutation_p.S442F|SLMAP_ENST00000428312.1_Missense_Mutation_p.S480F|SLMAP_ENST00000416870.1_Missense_Mutation_p.S14F|SLMAP_ENST00000442599.2_Missense_Mutation_p.S14F Q14BN4 SLMAP_HUMAN sarcolemma associated protein 480 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GCCAAAGTGTCCCTTTTAAAA 0.343000 24 59 0 0 0.021523 0 0 MUC16 94025 broad.mit.edu 37 19 9059777 9059777 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9059777C>T ENST00000397910.4 - 3 27872 c.27669G>A c.(27667-27669)ctG>ctA p.L9223L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9225 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTCATCTCCAGTTTCTCTG 0.463000 28 68 0 0 0.006320 0 0 PXK 54899 broad.mit.edu 37 3 58395265 58395265 + Nonsense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:58395265C>T ENST00000463280.1 + 13 1307 c.1216C>T c.(1216-1218)Cag>Tag p.Q406* PXK_ENST00000536660.1_Nonsense_Mutation_p.Q302*|PXK_ENST00000484288.1_Nonsense_Mutation_p.Q439*|PXK_ENST00000383716.3_Nonsense_Mutation_p.Q406*|PXK_ENST00000479241.1_Nonsense_Mutation_p.Q422*|PXK_ENST00000302779.5_Nonsense_Mutation_p.Q422*|PXK_ENST00000356151.2_Nonsense_Mutation_p.Q439*|PXK_ENST00000383715.4_Nonsense_Mutation_p.Q422* Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 439 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) AAAGATTCACCAGCATCGAAG 0.403000 6 18 0 0 0.003080 0 0 ITGB6 3694 broad.mit.edu 37 2 160964243 160964243 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:160964243G>A ENST00000283249.2 - 14 2452 c.2215C>T c.(2215-2217)Cgt>Tgt p.R739C ITGB6_ENST00000428609.2_Missense_Mutation_p.R697C|ITGB6_ENST00000409872.1_Missense_Mutation_p.R739C|ITGB6_ENST00000409967.2_Missense_Mutation_p.R632C P18564 ITB6_HUMAN integrin, beta 6 739 Interaction with HAX1. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 ACTTCTTTACGATCATGAAAT 0.458000 23 62 0 0 0.018920 0 0 ERGIC1 57222 broad.mit.edu 37 5 172336721 172336721 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:172336721C>T ENST00000326654.2 + 2 287 c.72C>T c.(70-72)atC>atT p.I24I ERGIC1_ENST00000523291.1_Silent_p.I69I|ERGIC1_ENST00000393784.3_Silent_p.I69I Q969X5 ERGI1_HUMAN endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 69 ER to Golgi vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2) 9 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTGGCAAGATCGACGTCAGTC 0.522000 27 82 0 0 0.010818 0 0 OR4K2 390431 broad.mit.edu 37 14 20345076 20345076 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:20345076C>T ENST00000298642.2 + 1 686 c.650C>T c.(649-651)tCa>tTa p.S217L NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTATTTAATTCATATGTTATT 0.383000 35 359 0 0 0.021022 0 0 TMEM255B 348013 broad.mit.edu 37 13 114472075 114472075 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:114472075G>A ENST00000375353.3 + 3 221 c.194G>A c.(193-195)gGc>gAc p.G65D NM_182614.2 NP_872420.1 transmembrane protein 255B TTTTAGCTCGGCTTTGGATCT 0.433000 31 59 0 0 0.012213 0 0 ZNF99 7652 broad.mit.edu 37 19 22939400 22939400 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:22939400G>A ENST00000397104.3 - 7 2770 c.2771C>T c.(2770-2772)gCt>gTt p.A924V zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTGCTTAAAAGCTTTGCCACA 0.368000 14 44 0 0 0.003163 0 0 NPAS3 64067 broad.mit.edu 37 14 34269586 34269586 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:34269586C>T ENST00000346562.2 + 11 2051 c.1977C>T c.(1975-1977)ttC>ttT p.F659F NPAS3_ENST00000551492.1_Silent_p.F696F|NPAS3_ENST00000356141.4_Silent_p.F691F|NPAS3_ENST00000548645.1_Silent_p.F661F|NPAS3_ENST00000357798.5_Silent_p.F678F NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 691 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CTGAGCACTTCCCGTCCCCGC 0.711000 27 60 0 0 0.005443 0 0 MDGA1 266727 broad.mit.edu 37 6 37631751 37631751 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:37631751G>A ENST00000434837.2 - 2 1377 c.199C>T c.(199-201)Cga>Tga p.R67* MDGA1_ENST00000297153.7_Nonsense_Mutation_p.R67*|MDGA1_ENST00000505425.1_Nonsense_Mutation_p.R67* NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 67 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane p.R67R(1) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACCTGGGGTCGAGGGTGCCCT 0.602000 10 56 0 0 0.010729 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24515510 24515510 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:24515510C>T ENST00000357578.3 + 5 987 c.842C>T c.(841-843)tCc>tTc p.S281F ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S193F|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S294F|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S253F NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 281 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) TCCAAAATTTCCTTTACTGGT 0.358000 14 46 0 0 0.016723 0 0 GPR98 84059 broad.mit.edu 37 5 90459687 90459687 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:90459687G>A ENST00000405460.2 + 90 18987 c.18891G>A c.(18889-18891)agG>agA p.R6297R GPR98_ENST00000425867.2_Silent_p.R1958R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6297 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGAGCTCAGGAGGATACCCA 0.502000 5 10 0 0 0.001984 0 0 CABYR 26256 broad.mit.edu 37 18 21735932 21735932 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:21735932C>T ENST00000399481.2 + 2 325 c.173C>T c.(172-174)cCa>cTa p.P58L CABYR_ENST00000327201.6_Missense_Mutation_p.P58L|CABYR_ENST00000399496.3_Missense_Mutation_p.P156L|CABYR_ENST00000581397.1_Missense_Mutation_p.P156L|CABYR_ENST00000415309.2_Missense_Mutation_p.P156L|CABYR_ENST00000399499.1_Missense_Mutation_p.P156L O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 156 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) CCCTCATCACCACCTCCAACA 0.507000 26 72 0 0 0.005443 0 0 DNAH5 1767 broad.mit.edu 37 5 13766229 13766229 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:13766229G>A ENST00000265104.4 - 59 10061 c.9957C>T c.(9955-9957)atC>atT p.I3319I DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3319 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGATCCGCATGATGAGGTGAG 0.532000 Kartagener syndrome 39 110 0 0 0.013114 0 0 FOLH1 2346 broad.mit.edu 37 11 49227623 49227623 + Silent SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:49227623A>G ENST00000340334.7 - 3 543 c.175T>C c.(175-177)Tta>Cta p.L59L FOLH1_ENST00000356696.3_Silent_p.L74L|FOLH1_ENST00000533034.1_Silent_p.L59L|FOLH1_ENST00000256999.2_Silent_p.L74L|FOLH1_ENST00000343844.4_5'UTR NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 74 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) ACTTACTATAAGAACTTCTTG 0.299000 23 47 0 0 0.018920 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059674 152059674 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:152059674C>T ENST00000368806.1 - 3 548 c.484G>A c.(484-486)Gaa>Aaa p.E162K NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 162 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTCTTGGCTTCTCTCCATGGG 0.453000 25 103 0 0 0.004656 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99454685 99454685 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:99454685G>A ENST00000397899.2 - 3 467 c.136C>T c.(136-138)Ccg>Tcg p.P46S KIAA1211L_ENST00000462314.1_5'UTR NM_207362.2 NP_997245.2 KIAA1211-like GTGGACGACGGCGATTCTTTT 0.403000 11 24 0 0 0.010729 0 0 CNTN5 53942 broad.mit.edu 37 11 100168359 100168359 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:100168359C>T ENST00000524871.1 + 19 2607 c.2317C>T c.(2317-2319)Ccg>Tcg p.P773S CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.P773S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P773S|CNTN5_ENST00000528682.1_Missense_Mutation_p.P773S|CNTN5_ENST00000418526.2_Missense_Mutation_p.P699S NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 773 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ATCCACAGTTCCGAAGACAGC 0.423000 3 9 0 0 0.004672 0 0 ILF3 3609 broad.mit.edu 37 19 10790583 10790583 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:10790583C>T ENST00000449870.1 + 8 1156 c.839C>T c.(838-840)gCg>gTg p.A280V ILF3_ENST00000420083.1_Missense_Mutation_p.A280V|ILF3_ENST00000318511.3_Missense_Mutation_p.A280V|ILF3_ENST00000407004.3_Missense_Mutation_p.A280V|ILF3_ENST00000590261.1_Missense_Mutation_p.A280V|ILF3_ENST00000588657.1_Missense_Mutation_p.A280V|ILF3_ENST00000250241.8_Missense_Mutation_p.A280V|ILF3_ENST00000589998.1_Missense_Mutation_p.A280V|ILF3_ENST00000592763.1_Missense_Mutation_p.A280V NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 280 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GAGTGCCTGGCGTCGGGCATC 0.627000 16 29 0 0 0.007413 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830144 7830144 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:7830144C>T ENST00000327325.5 + 3 322 c.204C>T c.(202-204)atC>atT p.I68I CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000597522.1_Silent_p.I68I|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000357361.2_Silent_p.I68I|CLEC4M_ENST00000334806.5_Silent_p.I40I|CLEC4M_ENST00000248228.4_Silent_p.I68I|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596363.1_Silent_p.I40I NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 68 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 TGGTGGCCATCCTTGTCCAAG 0.622000 35 71 0 0 0.017118 0 0 MOV10L1 54456 broad.mit.edu 37 22 50572967 50572967 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:50572967C>T ENST00000262794.5 + 15 2061 c.1978C>T c.(1978-1980)Cca>Tca p.P660S MOV10L1_ENST00000545383.1_Missense_Mutation_p.P660S|MOV10L1_ENST00000540615.1_Missense_Mutation_p.P640S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P660S NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 660 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGTGTTGTTTCCAGAAGAAAT 0.368000 26 69 0 0 0.004656 0 0 DSG4 147409 broad.mit.edu 37 18 28970705 28970705 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:28970705G>A ENST00000359747.4 + 6 633 c.604G>A c.(604-606)Gag>Aag p.E202K DSG4_ENST00000308128.4_Missense_Mutation_p.E202K|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 202 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CGTCTCTCAGGAGCCATCAGG 0.408000 9 27 0 0 0.010729 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072195 17072195 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:17072195C>T ENST00000359963.3 - 1 1505 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 416 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AAAGCCATTTCTGTGGCCCCA 0.542000 20 33 0 0 0.010504 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456450 30456450 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:30456450C>T ENST00000478753.2 - 1 1052 c.599G>A c.(598-600)cGg>cAg p.R200Q SEPHS2_ENST00000500504.2_Missense_Mutation_p.R200Q|SEPHS2_ENST00000542752.1_Missense_Mutation_p.R143Q Q99611 SPS2_HUMAN selenophosphate synthetase 2 200 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 AGCCGCATCCCGAAAGCCTTT 0.522000 36 76 0 0 0.006999 0 0 HIST2H2BB 338391 broad.mit.edu 37 1 149376778 149376778 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:149376778G>A ENST00000415338.1 - 0 1061 CAGAGGCCTGGTTTGCAGCTT 0.498000 27 24 0 0 0.006320 0 0 FIGN 55137 broad.mit.edu 37 2 164466641 164466641 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:164466641G>A ENST00000333129.3 - 3 2015 c.1701C>T c.(1699-1701)atC>atT p.I567I FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 567 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 AAGAGGCATGGATAATTTTCT 0.478000 11 36 0 0 0.010729 0 0 CHAD 1101 broad.mit.edu 37 17 48546022 48546022 + Silent SNP C C T rs138853066 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:48546022C>T ENST00000508540.1 - 1 305 c.153G>A c.(151-153)gaG>gaA p.E51E ACSF2_ENST00000506085.1_Intron|CHAD_ENST00000258969.4_Silent_p.E51E|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 51 LRRNT. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GCTTGGTCTTCTCTGACACCT 0.622000 9 28 0 0 0.006214 0 0 C1orf168 199920 broad.mit.edu 37 1 57202799 57202799 + Missense_Mutation SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:57202799A>T ENST00000343433.6 - 15 1834 c.1754T>A c.(1753-1755)aTt>aAt p.I585N C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 585 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 ATCATAAATAATAACTTCCTG 0.333000 12 42 0 0 0.020292 0 0 MUC16 94025 broad.mit.edu 37 19 9084779 9084779 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9084779C>T ENST00000397910.4 - 1 7239 c.7036G>A c.(7036-7038)Gaa>Aaa p.E2346K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2346 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTGTAGTTTCATTATCCAGT 0.463000 12 23 0 0 0.016723 0 0 A1CF 29974 broad.mit.edu 37 10 52573757 52573757 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:52573757C>T ENST00000395489.2 - 12 1582 c.1186G>A c.(1186-1188)Gca>Aca p.A396T A1CF_ENST00000373993.1_Missense_Mutation_p.A403T|A1CF_ENST00000395495.1_Missense_Mutation_p.A348T|A1CF_ENST00000373995.3_Missense_Mutation_p.A403T|A1CF_ENST00000373997.3_Missense_Mutation_p.A395T|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000374001.1_Missense_Mutation_p.A395T|A1CF_ENST00000282641.2_Missense_Mutation_p.A403T|ASAH2B_ENST00000483649.1_Intron NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 403 Required for nuclear localization. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CCTGTGTATGCCAAATAGCCA 0.483000 28 48 0 0 0.008361 0 0 SLC38A8 146167 broad.mit.edu 37 16 84050753 84050753 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:84050753G>A ENST00000299709.3 - 7 944 c.945C>T c.(943-945)ttC>ttT p.F315F NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 315 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 ACCTCCCCAGGAAGAGCACGA 0.567000 16 22 0 0 0.007413 0 0 USH2A 7399 broad.mit.edu 37 1 215848664 215848664 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:215848664C>T ENST00000366943.2 - 63 12975 c.12589G>A c.(12589-12591)Gga>Aga p.G4197R USH2A_ENST00000307340.3_Missense_Mutation_p.G4197R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4197 Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAAGCTTTTCCCTCGAAGCAT 0.418000 HNSCC(13;0.011) 20 160 0 0 0.008871 0 0 PCSK5 5125 broad.mit.edu 37 9 78973689 78973689 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:78973689G>A ENST00000545128.1 + 37 5972 c.5434G>A c.(5434-5436)Gat>Aat p.D1812N NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 629 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGAGTACAGGGATCGGGACTA 0.473000 54 156 0 0 0.014410 0 0 XIRP2 129446 broad.mit.edu 37 2 168104432 168104432 + Missense_Mutation SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:168104432A>G ENST00000409195.1 + 9 6619 c.6530A>G c.(6529-6531)gAc>gGc p.D2177G XIRP2_ENST00000295237.9_Missense_Mutation_p.D2177G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1955G|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2002 Pro-rich. actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGAACTTACGACCTTTCAGGG 0.368000 14 32 0 0 0.006122 0 0 TRHR 7201 broad.mit.edu 37 8 110131511 110131511 + Missense_Mutation SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:110131511A>G ENST00000518632.1 + 3 1375 c.1024A>G c.(1024-1026)Aca>Gca p.T342A TRHR_ENST00000311762.2_Missense_Mutation_p.T342A P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 342 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GCAGAAGCCAACAGAGAAACC 0.463000 33 88 0 0 0.010818 0 0 OGDHL 55753 broad.mit.edu 37 10 50944552 50944552 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:50944552G>A ENST00000374103.4 - 21 2690 c.2605C>T c.(2605-2607)Cgg>Tgg p.R869W OGDHL_ENST00000432695.1_Missense_Mutation_p.R660W|OGDHL_ENST00000419399.1_Missense_Mutation_p.R812W|OGDHL_ENST00000490844.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 869 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGAATCACCCGCTGGAAGCTG 0.642000 17 25 0 0 0.006122 0 0 OR8D2 283160 broad.mit.edu 37 11 124189235 124189235 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:124189235G>A ENST00000357438.2 - 1 949 c.859C>T c.(859-861)Cct>Tct p.P287S NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TAGATTAGAGGATTCAGCATG 0.433000 48 62 0 0 0.014410 0 0 ENPP7 339221 broad.mit.edu 37 17 77709387 77709387 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:77709387C>T ENST00000328313.5 + 3 1166 c.945C>T c.(943-945)ttC>ttT p.F315F NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 315 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGGAGGCGTTCCCCGAGGCCT 0.607000 29 45 0 0 0.006320 0 0 ACTA1 58 broad.mit.edu 37 1 229568416 229568416 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:229568416G>A ENST00000366684.3 - 3 443 c.341C>T c.(340-342)cCc>cTc p.P114L ACTA1_ENST00000366683.2_Missense_Mutation_p.P114L NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 114 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GTTGGCCTTGGGATTGAGGGG 0.612000 51 160 0 0 0.014410 0 0 AHCYL2 23382 broad.mit.edu 37 7 129064971 129064971 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:129064971C>T ENST00000325006.3 + 15 1751 c.1697C>T c.(1696-1698)cCc>cTc p.P566L AHCYL2_ENST00000474594.1_Missense_Mutation_p.P463L|AHCYL2_ENST00000531335.2_Missense_Mutation_p.P485L|AHCYL2_ENST00000446212.1_Missense_Mutation_p.P464L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.P565L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.P463L NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 566 one-carbon metabolic process adenosylhomocysteinase activity p.P463H(1)|p.P566H(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 TACCTGTTGCCCAAGAAGATG 0.448000 24 43 0 0 0.016522 0 0 SF3B4 10262 broad.mit.edu 37 1 149895856 149895856 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:149895856G>A ENST00000271628.8 - 5 1548 c.964C>T c.(964-966)Ccc>Tcc p.P322S NM_005850.4 NP_005841.1 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4, 49kDa 322 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CCAGCGTGGGGATGTCCTAAG 0.582000 3 20 0 0 0.001168 0 0 CACNA1B 774 broad.mit.edu 37 9 141016070 141016070 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:141016070C>T ENST00000277549.5 + 47 6790 c.4221C>T c.(4219-4221)ttC>ttT p.F1407F CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Silent_p.F2214F|CACNA1B_ENST00000371372.1_Silent_p.F2213F|CACNA1B_ENST00000371357.1_Silent_p.F2212F|CACNA1B_ENST00000371363.1_Silent_p.F2211F Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2213 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCATCCACTTCGCCGGGGCTC 0.706000 9 26 0 0 0.006214 0 0 IGSF10 285313 broad.mit.edu 37 3 151166599 151166599 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:151166599C>T ENST00000282466.3 - 4 1169 c.1170G>A c.(1168-1170)agG>agA p.R390R NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 390 cell differentiation|multicellular organismal development|ossification extracellular region 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) GCAAGTGGCTCCTTTCTAGTA 0.413000 11 24 0 0 0.008291 0 0 NLRP11 204801 broad.mit.edu 37 19 56321367 56321367 + Silent SNP G G A rs149856648 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:56321367G>A ENST00000443188.1 - 5 1319 c.609C>T c.(607-609)atC>atT p.I203I NLRP11_ENST00000592953.1_Silent_p.I104I|NLRP11_ENST00000360133.3_Silent_p.I203I|NLRP11_ENST00000589093.1_Silent_p.I203I|NLRP11_ENST00000589824.2_Silent_p.I203I NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 203 NACHT. 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) AGTCCTTGGCGATTAGCTCAG 0.512000 17 27 0 0 0.004007 0 0 TMEM108 66000 broad.mit.edu 37 3 133098997 133098997 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:133098997G>A ENST00000515826.1 + 3 565 c.442G>A c.(442-444)Ggg>Agg p.G148R TMEM108_ENST00000321871.6_Missense_Mutation_p.G148R|TMEM108_ENST00000393130.3_Missense_Mutation_p.G148R|TMEM108_ENST00000508711.1_Intron Q6UXF1 TM108_HUMAN transmembrane protein 108 148 Pro-rich. integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AAAGCCACCGGGGGCCACCAG 0.701000 9 16 0 0 0.006214 0 0 CCDC178 374864 broad.mit.edu 37 18 30804860 30804860 + Missense_Mutation SNP C C T rs112779048 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:30804860C>T ENST00000383096.3 - 17 1879 c.1697G>A c.(1696-1698)cGg>cAg p.R566Q CCDC178_ENST00000300227.8_Missense_Mutation_p.R566Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.R566Q coiled-coil domain containing 178 AAGCTCTTTCCGCTCAAGTGC 0.358000 20 44 0 0 0.016522 0 0 FAM131B 9715 broad.mit.edu 37 7 143053691 143053691 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:143053691G>A ENST00000409408.1 - 6 2659 c.951C>T c.(949-951)tcC>tcT p.S317S FAM131B_ENST00000409578.1_Silent_p.S333S|FAM131B_ENST00000409222.3_Silent_p.S317S|FAM131B_ENST00000443739.2_Silent_p.S345S|FAM131B_ENST00000409346.1_Silent_p.S317S Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 317 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GCACACCTGAGGATGTGACGT 0.592000 34 101 0 0 0.013726 0 0 OC90 729330 broad.mit.edu 37 8 133036886 133036886 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:133036886C>T ENST00000262283.5 - 18 2011 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K OC90_ENST00000254627.3_Missense_Mutation_p.E426K|OC90_ENST00000603859.1_Missense_Mutation_p.E426K|OC90_ENST00000443356.2_Missense_Mutation_p.E442K Q02509 OC90_HUMAN otoconin 90 442 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) AGGCTGTCTTCACAGGCTGCT 0.647000 7 16 0 0 0.003080 0 0 PHKA2 5256 broad.mit.edu 37 X 18936813 18936813 + Missense_Mutation SNP C C A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:18936813C>A ENST00000379942.4 - 19 2788 c.2123G>T c.(2122-2124)gGt>gTt p.G708V NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 708 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) AACTTCCAAACCCTTTGCTTT 0.403000 21 23 2.98393e-07 3.2792e-07 0.016522 1 0 PRDM1 639 broad.mit.edu 37 6 106555230 106555230 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:106555230G>A ENST00000369096.4 + 7 2581 c.2347G>A c.(2347-2349)Gga>Aga p.G783R PRDM1_ENST00000369091.2_Missense_Mutation_p.G747R|PRDM1_ENST00000369089.3_Missense_Mutation_p.G649R NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 783 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CATGGGGAATGGACTCCTCTC 0.483000 """D, N, Mis, F, S""" DLBCL 24 25 0 0 0.014323 0 0 PTGFR 5737 broad.mit.edu 37 1 79002193 79002193 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:79002193C>T ENST00000370757.3 + 3 1138 c.901C>T c.(901-903)Cct>Tct p.P301S PTGFR_ENST00000370758.1_Missense_Mutation_p.P301S|PTGFR_ENST00000370756.3_3'UTR NM_000959.3 NP_000950.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 301 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) AATCTTAGATCCTTGGGTATA 0.393000 22 48 0 0 0.014323 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904374 73904374 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:73904374C>T ENST00000342056.2 + 15 2491 c.2093C>T c.(2092-2094)tCa>tTa p.S698L KCNQ5_ENST00000370398.1_Missense_Mutation_p.S679L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S680L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S569L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S670L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S679L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S689L NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 679 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTATCCAGATCAACTAGTGCC 0.478000 47 44 0 0 0.014410 0 0 NCOA6 23054 broad.mit.edu 37 20 33329993 33329993 + Missense_Mutation SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:33329993A>G ENST00000374796.2 - 12 6637 c.4067T>C c.(4066-4068)cTg>cCg p.L1356P NCOA6_ENST00000359003.2_Missense_Mutation_p.L1356P Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1356 brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CTGAGAGGCCAGAGTAAGTTT 0.537000 56 50 0 0 0.014410 0 0 LMAN2 10960 broad.mit.edu 37 5 176765561 176765561 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:176765561G>A ENST00000303127.7 - 3 565 c.361C>T c.(361-363)Cac>Tac p.H121Y LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Missense_Mutation_p.H121Y NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 121 L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTGTGCCGTGGACTTTGAAG 0.622000 61 129 0 0 0.014410 0 0 CABS1 85438 broad.mit.edu 37 4 71201408 71201408 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:71201408C>T ENST00000273936.4 + 1 711 c.652C>T c.(652-654)Cct>Tct p.P218S NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 218 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGCTGAAATCCCTCCTGCTCC 0.423000 10 37 0 0 0.006214 0 0 DST 667 broad.mit.edu 37 6 56494203 56494203 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:56494203G>A ENST00000370754.5 - 31 4220 c.4221C>T c.(4219-4221)ttC>ttT p.F1407F DST_ENST00000518935.1_Silent_p.F903F|DST_ENST00000312431.6_Silent_p.F1229F|DST_ENST00000421834.2_Silent_p.F1229F|DST_ENST00000244364.6_Silent_p.F903F|DST_ENST00000361203.3_Silent_p.F1229F|DST_ENST00000446842.2_Silent_p.F903F|DST_ENST00000370769.4_Silent_p.F1229F|DST_ENST00000370765.6_Silent_p.F903F|DST_ENST00000370788.2_Silent_p.F1229F Q03001 DYST_HUMAN dystonin 1229 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTAAGGCATGGAATACCTGTC 0.338000 14 51 0 0 0.003163 0 0 PEG3 5178 broad.mit.edu 37 19 57328195 57328195 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:57328195C>T ENST00000326441.9 - 10 1978 c.1615G>A c.(1615-1617)Gaa>Aaa p.E539K ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E415K|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E539K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E413K NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 539 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCCTCACATTCCTGATTCTTA 0.443000 34 98 0 0 0.005524 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 15 58 0 0 0.010504 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188045 32188045 + Missense_Mutation SNP C C A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:32188045C>A ENST00000375023.3 - 7 1314 c.1176G>T c.(1174-1176)ttG>ttT p.L392F NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 392 EGF-like 10. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ACATGTCTTCCAAGTGGCACA 0.597000 7 502 0.00198382 0.00217002 0.001984 1 0 NCOR2 9612 broad.mit.edu 37 12 124826485 124826485 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:124826485G>A ENST00000356219.3 - 35 5248 c.5093C>T c.(5092-5094)aCc>aTc p.T1698I NCOR2_ENST00000404121.2_Missense_Mutation_p.T1252I|NCOR2_ENST00000397355.1_Missense_Mutation_p.T1682I|NCOR2_ENST00000405201.1_Missense_Mutation_p.T1691I|NCOR2_ENST00000429285.2_Missense_Mutation_p.T1681I|NCOR2_ENST00000404621.1_Missense_Mutation_p.T1681I NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1699 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CTGCTGCGAGGTGATGTAGTC 0.647000 28 41 0 0 0.013726 0 0 PM20D1 148811 broad.mit.edu 37 1 205819130 205819130 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:205819130C>T ENST00000367136.4 - 1 115 c.71G>A c.(70-72)aGa>aAa p.R24K PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 24 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GCCCATCGATCTGGAGACGGT 0.597000 39 62 0 0 0.011902 0 0 CD48 962 broad.mit.edu 37 1 160648920 160648920 + Splice_Site SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:160648920G>A ENST00000368046.3 - 4 741 c.652_splice c.e4-1 p.A218_splice RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA NM_001778.3 NP_001769.2 P09326 CD48_HUMAN CD48 molecule 218 blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CAAAGGACCGGGCTGAAAGAG 0.468000 23 76 0 0 0.004656 0 0 LOC644669 644669 broad.mit.edu 37 18 15323336 15323336 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:15323336G>A ENST00000455308.2 - 0 512 NR_027417.1 TTTCCTTATGGCCAATAAAAG 0.289000 3 10 0 0 0.014758 0 0 PDZD4 57595 broad.mit.edu 37 X 153073826 153073826 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:153073826G>A ENST00000164640.4 - 2 476 c.285C>T c.(283-285)gtC>gtT p.V95V PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Silent_p.V14V|PDZD4_ENST00000544474.1_Intron NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 95 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCCAGGATGACCATGGGCG 0.667000 15 24 0 0 0.004007 0 0 ASB4 51666 broad.mit.edu 37 7 95167013 95167013 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:95167013C>T ENST00000325885.5 + 5 1294 c.1223C>T c.(1222-1224)tCc>tTc p.S408F NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 408 SOCS box. intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CCTTTGCTTTCCCTCCCATTG 0.408000 28 53 0 0 0.008361 0 0 IL18RAP 8807 broad.mit.edu 37 2 103059758 103059758 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:103059758G>A ENST00000264260.2 + 8 1484 c.895G>A c.(895-897)Gaa>Aaa p.E299K IL18RAP_ENST00000409369.1_Missense_Mutation_p.E157K NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 299 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CCTAGAGTGGGAAGTCTCAGT 0.393000 24 38 0 0 0.018920 0 0 T 6862 broad.mit.edu 37 6 166571956 166571956 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:166571956G>A ENST00000296946.2 - 9 1623 c.1155C>T c.(1153-1155)ccC>ccT p.P385P T_ENST00000366871.3_Silent_p.P327P NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 385 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GATGGGTGAGGGGTGTGTAGT 0.711000 Chordoma, Familial Clustering of 19 28 0 0 0.010504 0 0 IGHG4 3503 broad.mit.edu 37 14 106091552 106091552 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:106091552G>A ENST00000390543.2 - 0 341 GTCCCCCCAGGAACTCAGGTG 0.627000 18 21 0 0 0.006122 0 0 ARL16 339231 broad.mit.edu 37 17 79650840 79650840 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:79650840C>T ENST00000397498.4 - 1 114 c.16G>A c.(16-18)Ggg>Agg p.G6R NM_001040025.1 NP_001035114.1 Q0P5N6 ARL16_HUMAN ADP-ribosylation factor-like 16 6 GTP binding p.G6R(1) central_nervous_system(1)|endometrium(1)|lung(4)|skin(1) 7 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AAGGCCCGCCCACCGGCCACT 0.637000 11 24 0 0 0.013537 0 0 CTR9 9646 broad.mit.edu 37 11 10787958 10787958 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:10787958G>A ENST00000361367.2 + 13 2033 c.1607G>A c.(1606-1608)cGc>cAc p.R536H NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 536 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GGCTATTTGCGCCTAGGAGCC 0.308000 15 59 0 0 0.004007 0 0 CRB1 23418 broad.mit.edu 37 1 197404165 197404165 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:197404165G>A ENST00000367397.1 + 5 2173 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K CRB1_ENST00000535699.1_Missense_Mutation_p.E1034K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.E946K|CRB1_ENST00000544212.1_Missense_Mutation_p.E539K|CRB1_ENST00000367400.3_Missense_Mutation_p.E1058K P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1058 EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.E1058K(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGTGGACAACGAAACACCTTT 0.443000 26 112 0 0 0.007291 0 0 OVGP1 5016 broad.mit.edu 37 1 111963975 111963975 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:111963975C>T ENST00000369732.3 - 8 881 c.826G>A c.(826-828)Ggg>Agg p.G276R OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 276 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GCCTGCAACCCATTCTTAGAG 0.502000 41 109 0 0 0.009718 0 0 TMEM211 255349 broad.mit.edu 37 22 25331525 25331525 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:25331525G>A ENST00000407886.1 - 4 417 c.165C>T c.(163-165)atC>atT p.I55I TMEM211_ENST00000423535.1_Silent_p.I126I|TMEM211_ENST00000382744.1_Silent_p.I55I Q6ICI0 TM211_HUMAN transmembrane protein 211 126 integral to membrane p.I55I(1) endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 AGGCAAGGCCGATTGGGAAAA 0.517000 18 44 0 0 0.006122 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18573874 18573874 + Splice_Site SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:18573874G>A ENST00000433979.1 + 16 2308 c.e16-1 PIK3C2G_ENST00000538779.1_Splice_Site|PIK3C2G_ENST00000266497.5_Splice_Site NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CTGTGTATTAGTTTTCCAGAT 0.373000 27 41 0 0 0.009535 0 0 TTLL10 254173 broad.mit.edu 37 1 1119384 1119384 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:1119384G>A ENST00000379290.1 + 12 1346 c.1173G>A c.(1171-1173)atG>atA p.M391I TTLL10_ENST00000379288.3_Missense_Mutation_p.M318I|TTLL10_ENST00000379289.1_Missense_Mutation_p.M391I Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 391 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCCTACATGATCTTCTTTG 0.592000 93 184 0 0 0.014410 0 0 MYPN 84665 broad.mit.edu 37 10 69926172 69926172 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:69926172C>T ENST00000358913.5 + 10 2210 c.1722C>T c.(1720-1722)ccC>ccT p.P574P MYPN_ENST00000540630.1_Silent_p.P574P|MYPN_ENST00000354393.2_Silent_p.P299P NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 574 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AACAACCCCCCAAACCCAAAC 0.577000 12 17 0 0 0.013537 0 0 SCN4A 6329 broad.mit.edu 37 17 62018401 62018401 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:62018401C>T ENST00000578147.1 - 24 5317 c.5241G>A c.(5239-5241)atG>atA p.M1747I SCN4A_ENST00000435607.1_Missense_Mutation_p.M1747I P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1747 IQ. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) ATGCCTGCTTCATGGAGCGCT 0.617000 34 72 0 0 0.021022 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063526 48063526 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:48063526C>T ENST00000316364.5 + 19 3205 c.2766C>T c.(2764-2766)gtC>gtT p.V922V SEMA6D_ENST00000358066.4_Silent_p.V860V|SEMA6D_ENST00000354744.4_Silent_p.V866V|SEMA6D_ENST00000389432.2_Silent_p.V879V|SEMA6D_ENST00000389428.3_Silent_p.V847V|SEMA6D_ENST00000537942.1_Silent_p.V860V|SEMA6D_ENST00000558014.1_Silent_p.V860V|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Silent_p.V922V|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Silent_p.V903V NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 922 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CACCTAAAGTCCCTAACCGGG 0.532000 26 88 0 0 0.005443 0 0 DNAH7 56171 broad.mit.edu 37 2 196746717 196746717 + Splice_Site SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:196746717C>T ENST00000312428.6 - 36 5864 c.e36-1 NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTCCTATTCCCTGTTTATAAT 0.338000 8 15 0 0 0.003080 0 0 CLCNKA 1187 broad.mit.edu 37 1 16355734 16355734 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:16355734G>A ENST00000375692.1 + 13 1295 c.1167G>A c.(1165-1167)tgG>tgA p.W389* CLCNKA_ENST00000331433.4_Nonsense_Mutation_p.W389*|CLCNKA_ENST00000420078.1_Nonsense_Mutation_p.W389*|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Nonsense_Mutation_p.W346* P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 389 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) ACCTTTGGTGGGAATGGTACC 0.627000 30 75 0 0 0.008361 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631965 156631965 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:156631965C>T ENST00000296518.7 + 6 857 c.648C>T c.(646-648)ccC>ccT p.P216P GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Silent_p.P216P|GUCY1A3_ENST00000513574.1_Silent_p.P216P|GUCY1A3_ENST00000511507.1_Silent_p.P216P|GUCY1A3_ENST00000455639.2_Silent_p.P216P|GUCY1A3_ENST00000511108.1_Silent_p.P216P Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 216 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TGATTCTTCCCGGCATCATAA 0.463000 22 48 0 0 0.021523 0 0 DPEP3 64180 broad.mit.edu 37 16 68009732 68009732 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:68009732G>A ENST00000268793.4 - 10 1851 c.1478C>T c.(1477-1479)cCa>cTa p.P493L NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 468 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) AACAAGGTATGGGGAGGCATT 0.602000 6 17 0 0 0.003080 0 0 NFXL1 152518 broad.mit.edu 37 4 47907343 47907343 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:47907343C>T ENST00000507489.1 - 4 603 c.427G>A c.(427-429)Gag>Aag p.E143K NFXL1_ENST00000329043.3_Missense_Mutation_p.E143K|NFXL1_ENST00000381538.3_Missense_Mutation_p.E143K NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 143 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TTTGTTCGCTCTAATTCACGT 0.348000 20 56 0 0 0.008871 0 0 ITGA2 3673 broad.mit.edu 37 5 52351403 52351403 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:52351403G>A ENST00000296585.5 + 8 958 c.815G>A c.(814-816)cGa>cAa p.R272Q NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 272 VWFA. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GGTGGGCGACGAAGTGCTACG 0.373000 17 50 0 0 0.004990 0 0 MYO5C 55930 broad.mit.edu 37 15 52498025 52498025 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:52498025G>A ENST00000261839.7 - 37 4686 c.4525C>T c.(4525-4527)Caa>Taa p.Q1509* RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1509 Dilute. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) ATTATCGGTTGGATATTCTTT 0.284000 12 27 0 0 0.013537 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563237 129563237 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:129563237C>T ENST00000422113.2 - 8 2283 c.1957G>A c.(1957-1959)Gaa>Aaa p.E653K TMEM132D_ENST00000389441.4_Missense_Mutation_p.E191K NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 653 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATGGTCTTTTCAGCGAGGATG 0.572000 28 37 0 0 0.008361 0 0 SPATA16 83893 broad.mit.edu 37 3 172694842 172694842 + Splice_Site SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:172694842C>T ENST00000351008.3 - 5 1032 c.848_splice c.e5-1 p.R283_splice NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 283 R -> Q (in SPGF6). cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TCATGGCACTCCTAAGAACAA 0.378000 24 57 0 0 0.021523 0 0 NEK9 91754 broad.mit.edu 37 14 75587839 75587839 + Nonsense_Mutation SNP T T A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:75587839T>A ENST00000238616.5 - 3 594 c.436A>T c.(436-438)Aag>Tag p.K146* NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 146 Protein kinase. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) TCAAACAACTTGTCCTTCTGA 0.363000 12 22 0 0 0.010729 0 0 SLC4A1 6521 broad.mit.edu 37 17 42336638 42336638 + Missense_Mutation SNP C C T rs142195740 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:42336638C>T ENST00000262418.6 - 9 924 c.769G>A c.(769-771)Gag>Aag p.E257K AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 257 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) ACCGGCAGCTCCACCGCCTCC 0.652000 15 31 0 0 0.003163 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417482 150417482 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:150417482G>A ENST00000307194.5 + 3 530 c.390G>A c.(388-390)caG>caA p.Q130Q NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGACCAGCAGGCGGTGAGGC 0.657000 19 43 0 0 0.006122 0 0 OPALIN 93377 broad.mit.edu 37 10 98109564 98109564 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:98109564C>T ENST00000419479.1 - 5 569 c.62G>A c.(61-63)gGa>gAa p.G21E OPALIN_ENST00000393870.2_Missense_Mutation_p.G20E|OPALIN_ENST00000393871.1_Missense_Mutation_p.G8E|OPALIN_ENST00000371172.3_Missense_Mutation_p.G31E|OPALIN_ENST00000536387.1_Missense_Mutation_p.G21E NM_001040103.1 NP_001035192.1 Q96PE5 OPALI_HUMAN oligodendrocytic myelin paranodal and inner loop protein 31 Golgi apparatus|integral to membrane|plasma membrane breast(1)|large_intestine(1)|lung(5)|prostate(2) 9 CGCCGCTAATCCAAGAGAGGG 0.463000 4 8 0 0 0.003080 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367791 145367791 + Missense_Mutation SNP G G A rs78046651 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:145367791G>A ENST00000342960.5 + 83 10422 c.10387G>A c.(10387-10389)Ggg>Agg p.G3463R NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3463 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) aagaaaagaaggggaagaaga 0.433000 22 39 0 0 0.021523 0 0 NFIA 4774 broad.mit.edu 37 1 61554224 61554224 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:61554224G>A ENST00000403491.3 + 2 915 c.431G>A c.(430-432)aGt>aAt p.S144N NFIA_ENST00000407417.3_Missense_Mutation_p.S136N|NFIA_ENST00000371184.2_Missense_Mutation_p.S144N|NFIA_ENST00000371185.2_Missense_Mutation_p.S144N|NFIA_ENST00000371187.3_Missense_Mutation_p.S144N|NFIA_ENST00000371189.4_Missense_Mutation_p.S189N|NFIA_ENST00000371191.1_Missense_Mutation_p.S167N|NFIA_ENST00000485903.2_Missense_Mutation_p.S144N|NFIA_ENST00000479364.1_Intron NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A 144 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 CCGCTGGAAAGTACTGATGGC 0.473000 32 74 0 0 0.012213 0 0 C10orf113 387638 broad.mit.edu 37 10 21414888 21414888 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:21414888G>A ENST00000534331.1 - 2 382 c.332C>T c.(331-333)cCa>cTa p.P111L NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.P101L|C10orf113_ENST00000529198.1_3'UTR NM_001010896.2 NP_001010896.2 Q5VZT2 CJ113_HUMAN chromosome 10 open reading frame 113 111 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 CCAGTTGCCTGGATCTGGTTC 0.537000 19 44 0 0 0.008871 0 0 ACO2 50 broad.mit.edu 37 22 41895859 41895859 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:41895859C>T ENST00000396512.3 + 2 183 c.166C>T c.(166-168)Cgc>Tgc p.R56C ACO2_ENST00000216254.4_Missense_Mutation_p.R56C Q99798 ACON_HUMAN aconitase 2, mitochondrial 56 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 TAACATTGTTCGCAAACGGTA 0.542000 64 131 0 0 0.014410 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101575017 101575017 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:101575017C>T ENST00000310954.6 - 12 2238 c.1952G>A c.(1951-1953)gGa>gAa p.G651E NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 651 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TCCTTTAATTCCACAATCATT 0.333000 22 43 0 0 0.014323 0 0 FAM83B 222584 broad.mit.edu 37 6 54805757 54805757 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:54805757G>A ENST00000306858.7 + 5 2104 c.1988G>A c.(1987-1989)cGa>cAa p.R663Q NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 663 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CTTAAAAGGCGAAGTTTCCCG 0.343000 23 59 0 0 0.004656 0 0 MEOX1 4222 broad.mit.edu 37 17 41738450 41738450 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:41738450C>T ENST00000549132.1 - 1 481 c.365G>A c.(364-366)gGa>gAa p.G122E MEOX1_ENST00000329168.3_Silent_p.R151R|MEOX1_ENST00000393661.2_Silent_p.R36R|MEOX1_ENST00000318579.4_Silent_p.R151R P50221 MEOX1_HUMAN mesenchyme homeobox 1 0 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) TCTCCTTTCTCCGCCTGGATG 0.577000 72 190 0 0 0.014410 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170939 207170939 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:207170939C>T ENST00000374423.3 + 5 2073 c.1687C>T c.(1687-1689)Cgg>Tgg p.R563W NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 563 nucleic acid binding|zinc ion binding p.R563W(2) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AACAAAACTTCGGAAGAAGGC 0.438000 12 24 0 0 0.013537 0 0 PROL1 58503 broad.mit.edu 37 4 71275451 71275451 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:71275451C>T ENST00000399575.2 + 3 580 c.406C>T c.(406-408)Cct>Tct p.P136S PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 136 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TATTTACCTTCCTATCTCTAA 0.438000 30 65 0 0 0.008361 0 0 PPM1N 147699 broad.mit.edu 37 19 46003763 46003763 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:46003763G>A ENST00000451287.2 + 3 1107 c.1107G>A c.(1105-1107)agG>agA p.R369R PPM1N_ENST00000456399.2_Silent_p.R51R|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000401705.1_Silent_p.R51R|PPM1N_ENST00000396735.2_Silent_p.R51R|PPM1N_ENST00000396737.2_Silent_p.R51R|PPM1N_ENST00000401593.1_Silent_p.R51R|PPM1N_ENST00000396736.2_Silent_p.R51R NM_001080401.1 NP_001073870.1 Q8N819 PPM1N_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) 369 magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6) 9 CAGTTTTCAGGACTCTGGCCT 0.582000 7 16 0 0 0.003080 0 0 ICOSLG 23308 broad.mit.edu 37 21 45656889 45656889 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:45656889G>A ENST00000407780.3 - 3 394 c.267C>T c.(265-267)gcC>gcT p.A89A ICOSLG_ENST00000344330.4_Silent_p.A89A|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.A89A O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand 89 Ig-like V-type. B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GCAGCATGCCGGCCGGTGACA 0.602000 21 55 0 0 0.016522 0 0 LCE4A 199834 broad.mit.edu 37 1 152681714 152681714 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:152681714G>A ENST00000368777.1 + 2 419 c.163G>A c.(163-165)Gga>Aga p.G55R LCE4A_ENST00000335535.3_Missense_Mutation_p.G55R Q5TA78 LCE4A_HUMAN late cornified envelope 4A 55 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CAGCTCTGAGGGAGGTGGCTG 0.597000 19 66 0 0 0.006320 0 0 CCDC74A 90557 broad.mit.edu 37 2 132289353 132289353 + Missense_Mutation SNP C C T rs145934024 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:132289353C>T ENST00000467992.2 + 2 1281 c.967C>T c.(967-969)Cct>Tct p.P323S CCDC74A_ENST00000409856.3_Missense_Mutation_p.P155S|CCDC74A_ENST00000295171.6_Missense_Mutation_p.P221S Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 221 p.P221S(1) endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GGACAAAGTTCCTGGGGTACA 0.577000 43 22 0 0 0.014410 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001293 13001293 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:13001293C>T ENST00000376189.1 - 3 489 c.390G>A c.(388-390)agG>agA p.R130R PRAMEF6_ENST00000415464.2_Silent_p.R130R|PRAMEF6_ENST00000376192.5_Intron NM_001010889.2 NP_001010889.1 Q5VXH4 PRAM6_HUMAN PRAME family member 6 130 NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGTTTTGTTCCTCTTGGCAT 0.498000 108 822 0 0 0.014410 0 0 LTBP2 4053 broad.mit.edu 37 14 75022267 75022267 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:75022267G>A ENST00000261978.4 - 4 1346 c.960C>T c.(958-960)ggC>ggT p.G320G CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.G320G NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 320 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TCTGCTCAAGGCCTGGTCCCG 0.647000 31 31 0 0 0.012213 0 0 VPS13D 55187 broad.mit.edu 37 1 12368579 12368579 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:12368579G>A ENST00000358136.3 + 27 6661 c.6531G>A c.(6529-6531)aaG>aaA p.K2177K VPS13D_ENST00000356315.4_Silent_p.K2177K NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2177 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AATACTCGAAGGCACCAGAGG 0.502000 48 130 0 0 0.014410 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768199 77768199 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:77768199G>A ENST00000521891.2 + 10 9490 c.9042G>A c.(9040-9042)gtG>gtA p.V3014V ZFHX4_ENST00000050961.6_Silent_p.V2969V|ZFHX4_ENST00000518282.1_Silent_p.V2988V|ZFHX4_ENST00000455469.2_Silent_p.V2969V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2969 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) TCTGCGGGGTGAAGTACTCTG 0.478000 HNSCC(33;0.089) 12 36 0 0 0.016723 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455134 187455134 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:187455134C>T ENST00000307161.5 - 2 963 c.762G>A c.(760-762)ctG>ctA p.L254L RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 254 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CAATGAAGTTCAGAGGAGCCC 0.507000 47 31 0 0 0.010771 0 0 TGM6 343641 broad.mit.edu 37 20 2375937 2375937 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:2375937G>A ENST00000202625.2 + 3 340 c.279G>A c.(277-279)atG>atA p.M93I TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.M93I NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 93 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) AGGCTCAGATGGAGAAAACTC 0.612000 17 31 0 0 0.004007 0 0 MPP7 143098 broad.mit.edu 37 10 28409259 28409259 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:28409259C>T ENST00000337532.5 - 11 1027 c.751G>A c.(751-753)Gaa>Aaa p.E251K MPP7_ENST00000445954.2_Missense_Mutation_p.E126K|MPP7_ENST00000540098.1_Missense_Mutation_p.E251K|MPP7_ENST00000375719.3_Missense_Mutation_p.E251K|MPP7_ENST00000375732.1_Missense_Mutation_p.E251K NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 251 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AGCCCAGCTTCCTTACATGGA 0.383000 15 72 0 0 0.004990 0 0 PAQR3 152559 broad.mit.edu 37 4 79851443 79851443 + Missense_Mutation SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:79851443A>T ENST00000512733.1 - 3 598 c.385T>A c.(385-387)Tcc>Acc p.S129T PAQR3_ENST00000295462.3_Missense_Mutation_p.F74L|PAQR3_ENST00000380645.4_Missense_Mutation_p.S129T NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 129 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 CGATGGCAGGAAAAAAGATGA 0.358000 13 46 0 0 0.004990 0 0 RASAL2 9462 broad.mit.edu 37 1 178412129 178412129 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:178412129C>T ENST00000448150.3 + 8 2011 c.1193C>T c.(1192-1194)cCa>cTa p.P398L RASAL2_ENST00000367649.3_Missense_Mutation_p.P416L|RASAL2_ENST00000462775.1_Missense_Mutation_p.P268L NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 268 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 AAGTGGTATCCAGTGAGTACA 0.418000 33 34 0 0 0.012213 0 0 ZNF385B 151126 broad.mit.edu 37 2 180311384 180311384 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:180311384G>A ENST00000410066.1 - 7 1387 c.784C>T c.(784-786)Ccc>Tcc p.P262S ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.P160S|ZNF385B_ENST00000409343.1_Missense_Mutation_p.P186S|ZNF385B_ENST00000336917.5_Missense_Mutation_p.P160S NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 262 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CTCTTGGAGGGAGAAGTGGCT 0.463000 35 67 0 0 0.021022 0 0 LARS 51520 broad.mit.edu 37 5 145523002 145523002 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:145523002C>T ENST00000394434.2 - 19 2016 c.1850G>A c.(1849-1851)gGa>gAa p.G617E LARS_ENST00000545646.1_Missense_Mutation_p.G571E|LARS_ENST00000510191.1_Missense_Mutation_p.G563E|LARS_ENST00000274562.9_Missense_Mutation_p.G590E NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 617 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CTCTGCCTGTCCATGCAAGTT 0.418000 69 185 0 0 0.014410 0 0 ARID1B 57492 broad.mit.edu 37 6 157527627 157527627 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:157527627C>T ENST00000346085.5 + 20 5353 c.5352C>T c.(5350-5352)ttC>ttT p.F1784F ARID1B_ENST00000367148.1_Silent_p.F1824F|ARID1B_ENST00000275248.4_Silent_p.F1766F|ARID1B_ENST00000350026.5_Silent_p.F1771F NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1771 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCAGTAAGTTCGACAAGCTGC 0.512000 51 44 0 0 0.014410 0 0 ELTD1 64123 broad.mit.edu 37 1 79357242 79357242 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:79357242G>A ENST00000370742.3 - 14 2040 c.1977C>T c.(1975-1977)ttC>ttT p.F659F NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 659 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATAAAAAAATGAACATCCCCT 0.398000 12 29 0 0 0.016723 0 0 ANKRD42 338699 broad.mit.edu 37 11 82951905 82951905 + Missense_Mutation SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:82951905A>T ENST00000260047.6 + 9 1916 c.1121A>T c.(1120-1122)cAt>cTt p.H374L ANKRD42_ENST00000533342.1_Missense_Mutation_p.H375L|ANKRD42_ENST00000531895.1_Missense_Mutation_p.H375L|ANKRD42_ENST00000393392.2_Missense_Mutation_p.H347L Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 347 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TTTATAAGACATGGTGTTGAG 0.378000 26 60 0 0 0.004656 0 0 HLA-G 3135 broad.mit.edu 37 6 29796330 29796330 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:29796330C>T ENST00000428701.1 + 4 532 c.354C>T c.(352-354)acC>acT p.T118T HLA-G_ENST00000376828.2_Silent_p.T123T|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Silent_p.T118T NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 118 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 GTTCTCACACCCTCCAGTGGA 0.667000 16 86 0 0 0.004007 0 0 C1orf198 84886 broad.mit.edu 37 1 230979542 230979542 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:230979542G>A ENST00000366663.5 - 3 625 c.485C>T c.(484-486)tCc>tTc p.S162F C1orf198_ENST00000470540.1_Missense_Mutation_p.S124F|C1orf198_ENST00000523410.1_Missense_Mutation_p.S32F|C1orf198_ENST00000427697.2_5'UTR NM_032800.2 NP_116189.1 Q9H425 CA198_HUMAN chromosome 1 open reading frame 198 162 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GAGGGCCTGGGAGCCCTGGGA 0.627000 95 187 0 0 0.014410 0 0 LFNG 3955 broad.mit.edu 37 7 2565122 2565122 + Missense_Mutation SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:2565122A>T ENST00000222725.5 + 4 676 c.656A>T c.(655-657)cAc>cTc p.H219L LFNG_ENST00000402045.1_Missense_Mutation_p.H90L|LFNG_ENST00000338732.3_Missense_Mutation_p.H90L|LFNG_ENST00000402506.1_Missense_Mutation_p.H148L|LFNG_ENST00000359574.3_Missense_Mutation_p.H219L NM_001040167.1 NP_001035257.1 Q8NES3 LFNG_HUMAN LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 219 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) AGCTACCCGCACACGCGGGAC 0.672000 10 25 0 0 0.013537 0 0 LCE1B 353132 broad.mit.edu 37 1 152784987 152784987 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:152784987C>T ENST00000360090.3 + 1 541 c.65C>T c.(64-66)cCc>cTc p.P22L NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 22 Pro-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) aagtgccctcccaagtgccTC 0.622000 34 100 0 0 0.017118 0 0 KBTBD7 84078 broad.mit.edu 37 13 41766536 41766536 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:41766536G>A ENST00000379483.3 - 1 2166 c.1858C>T c.(1858-1860)Cct>Tct p.P620S NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 620 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) AGGCAGGAAGGATAAACACGA 0.428000 24 54 0 0 0.014323 0 0 MGA 23269 broad.mit.edu 37 15 41961893 41961893 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:41961893C>T ENST00000219905.7 + 2 982 c.801C>T c.(799-801)ccC>ccT p.P267P MGA_ENST00000389936.4_Silent_p.P267P|MGA_ENST00000545763.1_Silent_p.P267P|MGA_ENST00000570161.1_Silent_p.P267P|MGA_ENST00000566586.1_Silent_p.P267P|MGA_ENST00000568630.1_Intron NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 267 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATAATAAGCCCCAGAGAGATG 0.428000 7 19 0 0 0.001984 0 0 SLC47A1 55244 broad.mit.edu 37 17 19480675 19480675 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:19480675G>A ENST00000270570.4 + 17 1608 c.1522G>A c.(1522-1524)Gat>Aat p.D508N SLC47A1_ENST00000571335.1_Missense_Mutation_p.D254N|SLC47A1_ENST00000575023.1_Missense_Mutation_p.D206N|SLC47A1_ENST00000457293.1_Missense_Mutation_p.D508N|SLC47A1_ENST00000395585.1_Missense_Mutation_p.D508N|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 508 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TTTAACGAACGATGTTGGAAA 0.443000 31 88 0 0 0.009535 0 0 EHD3 30845 broad.mit.edu 37 2 31472268 31472268 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:31472268C>T ENST00000322054.5 + 3 721 c.436C>T c.(436-438)Ctg>Ttg p.L146L EHD3_ENST00000541626.1_Silent_p.L146L NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 146 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) TAACCCTGTGCTGGAGAGCAT 0.597000 14 35 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 8976783 8976783 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:8976783C>T ENST00000397910.4 - 73 42486 c.42283G>A c.(42283-42285)Ggc>Agc p.G14095S MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.G736S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14126 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTAGCTGAGCCCTTGCCCATA 0.567000 11 28 0 0 0.008291 0 0 GMFG 9535 broad.mit.edu 37 19 39819590 39819590 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:39819590G>A ENST00000598034.1 - 6 436 c.407C>T c.(406-408)tCc>tTc p.S136F GMFG_ENST00000602185.1_Intron|GMFG_ENST00000601387.1_Intron|GMFG_ENST00000253054.8_Intron|GMFG_ENST00000595636.1_Intron|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000597595.1_Intron O60234 GMFG_HUMAN glia maturation factor, gamma 0 ADF-H. E -> K (in dbSNP:rs34035414). protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1) 10 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TCAGACCCAGGACCCACACCA 0.498000 18 34 0 0 0.004990 0 0 DNAJB13 374407 broad.mit.edu 37 11 73681067 73681067 + Missense_Mutation SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:73681067A>G ENST00000339764.1 + 8 1610 c.859A>G c.(859-861)Aaa>Gaa p.K287E RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_Missense_Mutation_p.K112E|DNAJB13_ENST00000537753.1_Missense_Mutation_p.K112E NM_153614.2 NP_705842.2 P59910 DJB13_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 13 287 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) CCCCACTAAGAAAGGGGATCT 0.547000 50 120 0 0 0.014410 0 0 VAV1 7409 broad.mit.edu 37 19 6854012 6854012 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:6854012G>A ENST00000304076.2 + 25 2415 c.2321G>A c.(2320-2322)cGa>cAa p.R774Q VAV1_ENST00000599806.1_Missense_Mutation_p.R741Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R699Q|VAV1_ENST00000602142.1_Missense_Mutation_p.R796Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R764Q NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 796 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 TTCTGCGCCCGAGACCGATCA 0.547000 30 102 0 0 0.010818 0 0 SDK2 54549 broad.mit.edu 37 17 71433893 71433893 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:71433893G>A ENST00000392650.3 - 8 985 c.985C>T c.(985-987)Ccc>Tcc p.P329S SDK2_ENST00000388726.3_Missense_Mutation_p.P329S NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 329 Ig-like C2-type 4. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GCCTGACAGGGGATGTCCACC 0.557000 20 89 0 0 0.014323 0 0 APOB 338 broad.mit.edu 37 2 21225676 21225676 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:21225676C>T ENST00000233242.1 - 29 12745 c.12618G>A c.(12616-12618)ggG>ggA p.G4206G NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4206 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.G4206G(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCCCAGGTTTCCCCGGAAACT 0.438000 155 363 0 0 0.014410 0 0 ALDH3A1 218 broad.mit.edu 37 17 19645922 19645922 + Missense_Mutation SNP G G A rs146746671 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:19645922G>A ENST00000457500.2 - 3 745 c.416C>T c.(415-417)cCc>cTc p.P139L ALDH3A1_ENST00000225740.6_Missense_Mutation_p.P139L|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.P139L|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.P66L|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.P139L NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 139 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) CAGCTCCGAGGGCTTGAGGAC 0.617000 25 38 0 0 0.018920 0 0 TMC2 117532 broad.mit.edu 37 20 2552872 2552872 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:2552872G>A ENST00000358864.1 + 5 617 c.602G>A c.(601-603)gGg>gAg p.G201E NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 201 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTGGGAAAGGGGAAAGGCAAG 0.488000 12 91 0 0 0.013537 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50188753 50188753 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:50188753C>T ENST00000335999.6 - 8 3091 c.2890G>A c.(2890-2892)Gag>Aag p.E964K NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 960 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 TTGAGGCTCTCGGCCTCCAGC 0.672000 4 3 0 0 0.009096 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075500 76075500 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:76075500G>A ENST00000395215.3 + 0 1140 gagaggctgcgaaaggaggag 0.607000 9 352 0 0 0.013537 0 0 GIMAP5 55340 broad.mit.edu 37 7 150440017 150440017 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:150440017G>A ENST00000358647.3 + 3 1157 c.790G>A c.(790-792)Gag>Aag p.E264K GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGGGAGAACGAGAGTAACTG 0.473000 18 37 0 0 0.010504 0 0 TRMT10A 93587 broad.mit.edu 37 4 100480449 100480449 + Missense_Mutation SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:100480449T>C ENST00000273962.3 - 2 359 c.47A>G c.(46-48)gAc>gGc p.D16G TRMT10A_ENST00000394877.3_Missense_Mutation_p.D16G|TRMT10A_ENST00000394876.2_Missense_Mutation_p.D16G NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) TTGCTTTTTGTCAACATTAGA 0.343000 13 44 0 0 0.020292 0 0 MRPL32 64983 broad.mit.edu 37 7 42977019 42977019 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:42977019C>T ENST00000223324.2 + 3 598 c.411C>T c.(409-411)atC>atT p.I137I MRPL32_ENST00000496564.1_Intron NM_031903.2 NP_114109.1 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 137 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(6) 10 CTGCAGAAATCAGACGACAGA 0.488000 13 25 0 0 0.013537 0 0 TRPM6 140803 broad.mit.edu 37 9 77407591 77407591 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:77407591C>T ENST00000451710.3 - 19 2724 c.2487G>A c.(2485-2487)agG>agA p.R829R TRPM6_ENST00000449912.2_Silent_p.R824R|TRPM6_ENST00000376864.4_Silent_p.R829R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.R824R|TRPM6_ENST00000360774.1_Silent_p.R829R Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 829 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CATAGACTTTCCTGGTCCACG 0.398000 6 30 0 0 0.001984 0 0 LPAR2 9170 broad.mit.edu 37 19 19737823 19737823 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:19737823G>A ENST00000542587.1 - 5 1173 c.271C>T c.(271-273)Cac>Tac p.H91Y LPAR2_ENST00000586703.1_Missense_Mutation_p.H91Y|LPAR2_ENST00000407877.3_Missense_Mutation_p.H91Y Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 91 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 GGACCAGTGTGGAACATGAGG 0.652000 3 13 0 0 0.009096 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100453084 100453084 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:100453084G>A ENST00000279907.7 - 14 2183 c.1971C>T c.(1969-1971)ttC>ttT p.F657F UHRF1BP1L_ENST00000545232.2_Silent_p.F307F NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 657 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 CATGTCTCTGGAAAATTGGAT 0.308000 19 15 0 0 0.007413 0 0 NBEA 26960 broad.mit.edu 37 13 35684971 35684971 + Missense_Mutation SNP T T A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:35684971T>A ENST00000540320.1 + 13 2392 c.1858T>A c.(1858-1860)Ttg>Atg p.L620M NBEA_ENST00000400445.3_Missense_Mutation_p.L620M|NBEA_ENST00000379939.2_Missense_Mutation_p.L620M|NBEA_ENST00000310336.4_Missense_Mutation_p.L620M Q8NFP9 NBEA_HUMAN neurobeachin 620 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATACACATATTTGTCTGCTGA 0.333000 7 22 0 0 0.003080 0 0 MAP1A 4130 broad.mit.edu 37 15 43820842 43820842 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:43820842G>A ENST00000382031.1 + 5 7916 c.7885G>A c.(7885-7887)Ggg>Agg p.G2629R MAP1A_ENST00000399453.1_Missense_Mutation_p.G2391R|MAP1A_ENST00000300231.5_Missense_Mutation_p.G2391R P78559 MAP1A_HUMAN microtubule-associated protein 1A 2391 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CTGGGAACGTGGGGCCTGGCC 0.667000 8 13 0 0 0.003080 0 0 EPPK1 83481 broad.mit.edu 37 8 144942134 144942134 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:144942134C>T ENST00000525985.1 - 2 5359 c.5288G>A c.(5287-5289)gGa>gAa p.G1763E P58107 EPIPL_HUMAN epiplakin 1 1763 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTAGTTTTCTCCTTTCTTTAT 0.537000 16 42 0 0 0.008871 0 0 CCDC18 343099 broad.mit.edu 37 1 93646302 93646302 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:93646302G>A ENST00000557479.1 + 1 383 c.215G>A c.(214-216)gGg>gAg p.G72E CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR NM_206886.3 NP_996769.3 Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 0 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TGTGCTGCCGGGGTTCGCTGG 0.701000 13 29 0 0 0.013537 0 0 PRR23B 389151 broad.mit.edu 37 3 138739084 138739084 + Silent SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:138739084T>C ENST00000329447.5 - 1 684 c.420A>G c.(418-420)gaA>gaG p.E140E MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 140 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATGCGCAGAATTCCAGCTCGA 0.662000 14 43 0 0 0.020292 0 0 OLFML2B 25903 broad.mit.edu 37 1 161970012 161970012 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:161970012C>T ENST00000294794.3 - 5 1263 c.840G>A c.(838-840)caG>caA p.Q280Q OLFML2B_ENST00000367940.2_Silent_p.Q281Q NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 280 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGACCTGCCTCTGCAGGGGCC 0.592000 32 53 0 0 0.017118 0 0 HERC2P2 400322 broad.mit.edu 37 15 23300123 23300123 + RNA SNP T T G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:23300123T>G ENST00000560464.1 - 0 4164 CTTCAAATCCTGGGCTCGAAG 0.617000 5 15 0 0 0.001168 0 0 COL28A1 340267 broad.mit.edu 37 7 7571504 7571504 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:7571504G>A ENST00000399429.3 - 3 296 c.156C>T c.(154-156)atC>atT p.I52I NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 52 VWFA 1. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) AGCTGTCCACGATGAAGACAA 0.363000 19 23 0 0 0.016522 0 0 POF1B 79983 broad.mit.edu 37 X 84634306 84634306 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:84634306C>T ENST00000262753.4 - 2 299 c.154G>A c.(154-156)Gtg>Atg p.V52M POF1B_ENST00000373145.3_Missense_Mutation_p.V52M NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 52 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TAGGTCCTCACTCGCTCATAC 0.567000 10 17 0 0 0.008291 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432834 104432834 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:104432834G>A ENST00000361820.3 - 3 2460 c.1860C>T c.(1858-1860)ctC>ctT p.L620L NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 620 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TCCCTCTCAGGAGATCACCCA 0.498000 27 44 0 0 0.006320 0 0 ZNF578 147660 broad.mit.edu 37 19 53014213 53014213 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:53014213C>T ENST00000421239.2 + 6 823 c.579C>T c.(577-579)tcC>tcT p.S193S NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TTTCAACATCCCAAAGAATTT 0.368000 34 64 0 0 0.015359 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 17 51 0 0 0.004007 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35129947 35129947 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:35129947C>T ENST00000436258.1 - 0 3422 TCTCACAACACACCATGCCTC 0.318000 32 98 0 0 0.017118 0 0 FAM83F 113828 broad.mit.edu 37 22 40417711 40417711 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:40417711G>A ENST00000333407.5 + 4 1291 c.1197G>A c.(1195-1197)aaG>aaA p.K399K FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 399 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TGAGCCAGAAGGATGGCAGGA 0.652000 7 22 0 0 0.001984 0 0 MROH2B 133558 broad.mit.edu 37 5 41049459 41049459 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:41049459C>T ENST00000399564.4 - 14 1874 c.1424G>A c.(1423-1425)aGa>aAa p.R475K MROH2B_ENST00000506092.2_Missense_Mutation_p.R30K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AATCAGAATTCTGATGATACT 0.478000 9 22 0 0 0.004482 0 0 ABCC11 85320 broad.mit.edu 37 16 48244997 48244997 + Silent SNP G G A rs139456533 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:48244997G>A ENST00000394747.1 - 10 1819 c.1470C>T c.(1468-1470)atC>atT p.I490I ABCC11_ENST00000394748.1_Silent_p.I490I|ABCC11_ENST00000356608.2_Silent_p.I490I|ABCC11_ENST00000353782.5_Silent_p.I490I|ABCC11_ENST00000537808.1_Silent_p.I490I NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 490 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCCCATTGACGATCCCGGGAC 0.577000 39 83 0 0 0.007835 0 0 LNPEP 4012 broad.mit.edu 37 5 96333773 96333773 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:96333773C>T ENST00000231368.5 + 8 2269 c.1577C>T c.(1576-1578)tCa>tTa p.S526L LNPEP_ENST00000395770.3_Missense_Mutation_p.S512L NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 526 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TCCTTAAATTCATCTCATCCA 0.294000 18 62 0 0 0.004990 0 0 OR4K13 390433 broad.mit.edu 37 14 20502527 20502527 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:20502527G>A ENST00000315693.2 - 1 392 c.391C>T c.(391-393)Cat>Tat p.H131Y NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GTCATGTAATGGAGGGGTTTG 0.468000 28 69 0 0 0.005443 0 0 SLFN11 91607 broad.mit.edu 37 17 33687322 33687322 + Missense_Mutation SNP G G C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:33687322G>C ENST00000394566.1 - 5 1410 c.1138C>G c.(1138-1140)Cca>Gca p.P380A SLFN11_ENST00000308377.4_Missense_Mutation_p.P380A NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 380 nucleus ATP binding p.P380T(1) autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAGTACACTGGTCTGCTAAGG 0.393000 4 79 0 0 0.014758 0 0 SALL1 6299 broad.mit.edu 37 16 51175273 51175273 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:51175273G>A ENST00000440970.1 - 2 1000 c.569C>T c.(568-570)tCc>tTc p.S190F SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S287F NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 287 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGATAAATGGGAACTTAGCGT 0.507000 39 77 0 0 0.006230 0 0 SHMT2 6472 broad.mit.edu 37 12 57626237 57626237 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:57626237C>T ENST00000393827.4 + 5 564 c.308C>T c.(307-309)cCc>cTc p.P103L SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000449049.3_Splice_Site_p.P178_splice|SHMT2_ENST00000414700.3_Splice_Site_p.P178_splice|SHMT2_ENST00000328923.3_Splice_Site_p.P199_splice|SHMT2_ENST00000553474.1_Splice_Site_p.P178_splice P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 199 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TCTGTCCAGCCCAAAACTGGC 0.587000 42 48 0 0 0.009718 0 0 PRR23B 389151 broad.mit.edu 37 3 138738775 138738775 + Silent SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:138738775A>T ENST00000329447.5 - 1 993 c.729T>A c.(727-729)ggT>ggA p.G243G MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 243 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCGCGTGGGGACCTGGACTCC 0.657000 12 27 0 0 0.020292 0 0 KCNN4 3783 broad.mit.edu 37 19 44276176 44276176 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:44276176G>A ENST00000262888.3 - 4 1190 c.795C>T c.(793-795)atC>atT p.I265I NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 265 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) ACAGGCAGACGATCTTGCCCC 0.557000 23 53 0 0 0.004656 0 0 STK33 65975 broad.mit.edu 37 11 8494745 8494745 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:8494745G>A ENST00000447869.1 - 2 1222 c.304C>T c.(304-306)Cct>Tct p.P102S STK33_ENST00000358872.3_Intron|STK33_ENST00000315204.1_Missense_Mutation_p.P102S|STK33_ENST00000534493.1_Missense_Mutation_p.P61S|STK33_ENST00000396673.1_Missense_Mutation_p.P102S|STK33_ENST00000396672.1_Missense_Mutation_p.P102S Q9BYT3 STK33_HUMAN serine/threonine kinase 33 102 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CTTATGTGAGGAACTTTTCCT 0.393000 35 94 0 0 0.005524 0 0 PGM2 55276 broad.mit.edu 37 4 37836258 37836258 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:37836258G>A ENST00000381967.4 + 3 368 c.268G>A c.(268-270)Gaa>Aaa p.E90K PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 90 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 CAGATACCTGGAAAAACAATT 0.343000 33 84 0 0 0.017118 0 0 SERPINF2 5345 broad.mit.edu 37 17 1657585 1657585 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:1657585G>A ENST00000324015.3 + 10 1310 c.1233G>A c.(1231-1233)gtG>gtA p.V411V SERPINF2_ENST00000382061.4_Silent_p.V411V|SERPINF2_ENST00000450523.2_Silent_p.V347V NM_000934.3 NP_000925.2 P08697 A2AP_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 411 V -> M (in APLID). acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) CCTTCAGCGTGAACCGCCCCT 0.652000 108 50 0 0 0.014410 0 0 ATP1A3 478 broad.mit.edu 37 19 42474402 42474402 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:42474402G>A ENST00000545399.1 - 18 2669 c.2516C>T c.(2515-2517)cCc>cTc p.P839L ATP1A3_ENST00000302102.5_Missense_Mutation_p.P826L|ATP1A3_ENST00000602133.1_Missense_Mutation_p.P796L|ATP1A3_ENST00000543770.1_Missense_Mutation_p.P837L NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 826 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CGGGTTCCTGGGCTGTCTCTT 0.617000 23 41 0 0 0.018920 0 0 UNC80 285175 broad.mit.edu 37 2 210658531 210658531 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:210658531G>A ENST00000439458.1 + 7 966 c.886G>A c.(886-888)Gat>Aat p.D296N UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.D296N NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 296 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 AAACTCCTTTGATGGAAGTCT 0.493000 21 28 0 0 0.010504 0 0 OR10G3 26533 broad.mit.edu 37 14 22038755 22038755 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:22038755C>T ENST00000303532.1 - 1 120 c.121G>A c.(121-123)Gga>Aga p.G41R NM_001005465.1 NP_001005465.1 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, member 3 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) AGCAGGTTTCCCAGCTGAGTC 0.448000 12 22 0 0 0.010729 0 0 RASAL1 8437 broad.mit.edu 37 12 113553068 113553068 + Splice_Site SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:113553068C>T ENST00000546530.1 - 12 1290 c.1003_splice c.e12-1 p.M335_splice RASAL1_ENST00000446861.3_Splice_Site_p.M335_splice|RASAL1_ENST00000261729.5_Splice_Site_p.M335_splice|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Splice_Site_p.M335_splice NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 335 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TGTTGGGGTCCACTGGGAGGA 0.562000 40 55 0 0 0.009718 0 0 MUC16 94025 broad.mit.edu 37 19 9083906 9083906 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9083906C>T ENST00000397910.4 - 1 8112 c.7909G>A c.(7909-7911)Gga>Aga p.G2637R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2637 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGGAAGCTCCAGACAGAGTC 0.478000 8 26 0 0 0.003080 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758729 62758729 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:62758729C>T ENST00000331425.6 - 0 148 NR_003952.1 GCCATTCCTCCAGAGAGAATT 0.428000 14 37 0 0 0.020292 0 0 LARS 51520 broad.mit.edu 37 5 145519825 145519825 + Splice_Site SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:145519825C>T ENST00000394434.2 - 21 2257 c.e21-1 LARS_ENST00000545646.1_Splice_Site|LARS_ENST00000510191.1_Splice_Site|LARS_ENST00000274562.9_Splice_Site NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CCATTTGTCACTTCACAGATA 0.343000 7 39 0 0 0.001984 0 0 SMPD4P1 645280 broad.mit.edu 37 22 20977008 20977008 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:20977008G>A ENST00000443839.1 - 0 1526 TCCCAGGGTCGAGAAATTCCA 0.502000 6 18 0 0 0.001984 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39914071 39914071 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:39914071G>A ENST00000425673.1 + 16 2615 c.2290G>A c.(2290-2292)Gat>Aat p.D764N PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D793N|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D734N|PLEKHG2_ENST00000409797.2_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 793 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GATCCTGGAGGATTCGGATCT 0.647000 3 8 0 0 0.004672 0 0 RABEP2 79874 broad.mit.edu 37 16 28925708 28925708 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:28925708G>A ENST00000358201.4 - 5 1331 c.743C>T c.(742-744)tCc>tTc p.S248F RABEP2_ENST00000357573.6_Missense_Mutation_p.S248F|RABEP2_ENST00000544477.1_Missense_Mutation_p.S177F NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 248 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 TTGGGGCAGGGAGGAGCTGCT 0.672000 10 34 0 0 0.010729 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077466 32077466 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:32077466C>T ENST00000354689.6 + 0 81 RP11-1166P10.6_ENST00000566806.1_RNA CCTCTGGATTCACCTTCAGTA 0.562000 59 164 0 0 0.014410 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11859513 11859513 + Nonsense_Mutation SNP A A C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:11859513A>C ENST00000396516.2 - 13 1748 c.1551T>G c.(1549-1551)taT>taG p.Y517* ZC3H7A_ENST00000355758.4_Nonsense_Mutation_p.Y517* Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 517 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 AGTGGCCTGAATATCTACATT 0.502000 30 31 0 0 0.008361 0 0 OR6K6 128371 broad.mit.edu 37 1 158725296 158725296 + Missense_Mutation SNP G G T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:158725296G>T ENST00000368144.2 + 1 787 c.691G>T c.(691-693)Gca>Tca p.A231S NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TGCCATCCATGCAGCGGAAAT 0.483000 22 69 9.57634e-11 1.0598e-10 0.018920 1 0 STAB2 55576 broad.mit.edu 37 12 104046342 104046342 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:104046342G>A ENST00000388887.2 + 12 1470 c.1266G>A c.(1264-1266)gaG>gaA p.E422E NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 422 FAS1 1. 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 AGGTAAATGAGCTTTTGGTGG 0.328000 9 15 0 0 0.008291 0 0 ZNF280D 54816 broad.mit.edu 37 15 56993092 56993092 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:56993092G>A ENST00000558320.1 - 6 534 c.420C>T c.(418-420)tcC>tcT p.S140S ZNF280D_ENST00000396245.1_Intron|ZNF280D_ENST00000559237.1_Intron|ZNF280D_ENST00000267807.7_Intron|ZNF280D_ENST00000559000.1_Intron NM_001002844.1 NP_001002844.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 528 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) AACATCCAATGGATCCCTGAG 0.373000 12 17 0 0 0.013537 0 0 CCBE1 147372 broad.mit.edu 37 18 57103301 57103301 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:57103301C>T ENST00000439986.4 - 11 1097 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K CCBE1_ENST00000398179.2_Missense_Mutation_p.E83K NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 354 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) AACACCTTTTCCTGCAGCTCA 0.537000 32 104 0 0 0.019004 0 0 SOX13 9580 broad.mit.edu 37 1 204093858 204093858 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:204093858C>T ENST00000367204.1 + 13 1574 c.1465C>T c.(1465-1467)Cct>Tct p.P489S NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 489 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GGAGAAGTATCCTGACTACAA 0.622000 9 34 0 0 0.006214 0 0 MICAL2 9645 broad.mit.edu 37 11 12225819 12225819 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:12225819C>T ENST00000256194.4 + 4 575 c.287C>T c.(286-288)cCc>cTc p.P96L MICAL2_ENST00000537344.1_Missense_Mutation_p.P96L|MICAL2_ENST00000379612.3_Missense_Mutation_p.P96L|MICAL2_ENST00000342902.5_Missense_Mutation_p.P96L|MICAL2_ENST00000527546.1_Missense_Mutation_p.P96L|MICAL2_ENST00000527195.1_3'UTR NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 96 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) GGGGGAGGACCCTGTGGCTTG 0.557000 8 35 0 0 0.016723 0 0 CASR 846 broad.mit.edu 37 3 121980939 121980939 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:121980939G>A ENST00000498619.1 + 4 1495 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K CASR_ENST00000296154.5_Missense_Mutation_p.E353K|CASR_ENST00000490131.1_Missense_Mutation_p.E353K NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 353 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGAGTTTTGGGAAGAAACATT 0.498000 14 38 0 0 0.016723 0 0 GCM1 8521 broad.mit.edu 37 6 52993247 52993247 + Nonsense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:52993247C>T ENST00000259803.7 - 6 1279 c.1068G>A c.(1066-1068)tgG>tgA p.W356* NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 356 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) CTGGATTTGGCCATAATGGGG 0.488000 29 71 0 0 0.012213 0 0 OR5D13 390142 broad.mit.edu 37 11 55541798 55541798 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:55541798G>A ENST00000361760.1 + 1 885 c.885G>A c.(883-885)agG>agA p.R295R NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R295R(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) ACAGCCTTAGGAACAAAGATA 0.348000 14 32 0 0 0.003163 0 0 SLC22A14 9389 broad.mit.edu 37 3 38355224 38355224 + Silent SNP C C A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:38355224C>A ENST00000273173.4 + 7 1261 c.1170C>A c.(1168-1170)acC>acA p.T390T SLC22A14_ENST00000448498.1_Silent_p.T390T NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 390 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CCAGGTTTACCGTCAGTTACA 0.577000 29 62 1.13719e-10 1.25703e-10 0.008361 1 0 C1orf173 127254 broad.mit.edu 37 1 75038269 75038269 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:75038269C>T ENST00000326665.5 - 14 3343 c.3125G>A c.(3124-3126)aGg>aAg p.R1042K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1042 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ATCATCTTCCCTATTAGCTTC 0.468000 42 139 0 0 0.010771 0 0 KIF26A 26153 broad.mit.edu 37 14 104642925 104642925 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:104642925C>T ENST00000315264.7 + 11 3761 c.3383C>T c.(3382-3384)tCc>tTc p.S1128F KIF26A_ENST00000423312.2_Missense_Mutation_p.S1267F Q9ULI4 KI26A_HUMAN kinesin family member 26A 1267 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) ACACTTGGCTCCCCCCGGCTG 0.697000 17 21 0 0 0.004990 0 0 ZNF483 158399 broad.mit.edu 37 9 114296142 114296142 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:114296142C>T ENST00000309235.5 + 4 783 c.625C>T c.(625-627)Ctg>Ttg p.L209L ZNF483_ENST00000358151.4_Silent_p.L209L|ZNF483_ENST00000355824.3_Silent_p.L209L NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 209 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 CCTAGAATTTCTGGGTAAAGA 0.403000 15 62 0 0 0.006122 0 0 PRKAA2 5563 broad.mit.edu 37 1 57161734 57161734 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:57161734C>T ENST00000371244.4 + 6 756 c.690C>T c.(688-690)gtC>gtT p.V230V NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 230 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GAGGGGGTGTCTTTTATATCC 0.448000 86 197 0 0 0.014410 0 0 EOMES 8320 broad.mit.edu 37 3 27758863 27758863 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:27758863C>T ENST00000295743.4 - 6 1962 c.1759G>A c.(1759-1761)Gct>Act p.A587T EOMES_ENST00000449599.1_Missense_Mutation_p.A606T|EOMES_ENST00000537516.1_Missense_Mutation_p.A311T O95936 EOMES_HUMAN eomesodermin 587 Required for transcription activation (By similarity). CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 GGTAGTCCAGCTGCCATCTTC 0.532000 17 36 0 0 0.004990 0 0 OR51S1 119692 broad.mit.edu 37 11 4869499 4869499 + Silent SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:4869499A>G ENST00000322101.2 - 1 1015 c.940T>C c.(940-942)Ttg>Ctg p.L314L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGGGCTGCAACCTGTTGAGT 0.453000 23 45 0 0 0.016522 0 0 CPED1 79974 broad.mit.edu 37 7 120776102 120776102 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:120776102C>T ENST00000310396.5 + 14 2124 c.1657C>T c.(1657-1659)Cca>Tca p.P553S CPED1_ENST00000423795.1_Missense_Mutation_p.P333S|CPED1_ENST00000450913.2_Missense_Mutation_p.P553S NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 aGCTGCAGTTCCACAAATTAA 0.244000 5 26 0 0 0.003080 0 0 STXBP5L 9515 broad.mit.edu 37 3 120957823 120957823 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:120957823C>T ENST00000273666.6 + 13 1461 c.1190C>T c.(1189-1191)cCa>cTa p.P397L STXBP5L_ENST00000492541.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P397L NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 397 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ATTAGTTTTCCAATCTTTGAA 0.308000 10 21 0 0 0.013537 0 0 CEP85L 387119 broad.mit.edu 37 6 118801628 118801628 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:118801628G>A ENST00000368491.3 - 9 2415 c.1794C>T c.(1792-1794)ccC>ccT p.P598P CEP85L_ENST00000368488.5_Silent_p.P601P NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 598 centrosome CATCTAACATGGGAAGGCGGA 0.338000 21 30 0 0 0.012319 0 0 TTYH1 57348 broad.mit.edu 37 19 54940485 54940485 + Splice_Site SNP G G C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:54940485G>C ENST00000301194.4 + 6 857 c.734_splice c.e6-1 p.V245_splice TTYH1_ENST00000376530.3_Splice_Site_p.V245_splice|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000391739.3_Splice_Site_p.V294_splice|TTYH1_ENST00000376531.3_Splice_Site_p.V245_splice Q9H313 TTYH1_HUMAN tweety family member 1 245 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) CCCACTCTAGGATGACAGTCA 0.642000 30 71 0 0 0.010818 0 0 POLR2L 5441 broad.mit.edu 37 11 840420 840420 + Missense_Mutation SNP G G T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:840420G>T ENST00000322028.4 - 2 192 c.156C>A c.(154-156)caC>caA p.H52Q NM_021128.4 NP_066951.1 P62875 RPAB5_HUMAN polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa 52 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III 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|zinc ion binding lung(1) 1 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCAGGTCCACGTGGGCCAGCA 0.632000 5 141 0.00116845 0.0012796 0.001168 1 0 DECR1 1666 broad.mit.edu 37 8 91057137 91057137 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:91057137C>T ENST00000522161.1 + 10 1455 c.772C>T c.(772-774)Ccc>Tcc p.P258S DECR1_ENST00000220764.2_Missense_Mutation_p.P267S Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1, mitochondrial 267 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 15 BRCA - Breast invasive adenocarcinoma(11;0.00953) TGGCAGAATTCCCTGTGGTCG 0.423000 30 95 0 0 0.008361 0 0 ADRBK2 157 broad.mit.edu 37 22 26107084 26107084 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:26107084C>T ENST00000324198.5 + 17 1637 c.1445C>T c.(1444-1446)gCc>gTc p.A482V NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 482 AGC-kinase C-terminal. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) GCTGCTGATGCCTTTGATATT 0.413000 14 37 0 0 0.004990 0 0 KAT2A 2648 broad.mit.edu 37 17 40271325 40271325 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:40271325G>A ENST00000225916.5 - 6 1064 c.1011C>T c.(1009-1011)ttC>ttT p.F337F NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 337 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TCTCCACTCGGAACTTTTCCA 0.567000 46 87 0 0 0.014410 0 0 PPARA 5465 broad.mit.edu 37 22 46614265 46614265 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:46614265C>T ENST00000396000.2 + 5 740 c.475C>T c.(475-477)Cac>Tac p.H159Y PPARA_ENST00000402126.1_Missense_Mutation_p.H159Y|PPARA_ENST00000407236.1_Missense_Mutation_p.H159Y|PPARA_ENST00000262735.5_Missense_Mutation_p.H159Y|PPARA_ENST00000434345.2_Missense_Mutation_p.H159Y Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 159 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) TTGTCGATTTCACAAGTGCCT 0.498000 60 109 0 0 0.014410 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173848292 173848292 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:173848292C>T ENST00000264111.6 + 11 1257 c.1070C>T c.(1069-1071)tCc>tTc p.S357F RAPGEF4_ENST00000409036.1_Missense_Mutation_p.S358F|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.S358F|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.S214F|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.S205F|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.S205F|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.S138F|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.S187F|RAPGEF4_ENST00000473043.1_3'UTR Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 358 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) AAAGCCTTATCCCATCTTTCT 0.393000 26 58 0 0 0.008361 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592244 1592244 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:1592244G>A ENST00000279477.7 - 2 256 c.192C>T c.(190-192)ccC>ccT p.P64P SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Silent_p.P64P|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 64 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 ACCACTGGATGGGCCCCACAG 0.532000 17 58 0 0 0.004990 0 0 SNX20 124460 broad.mit.edu 37 16 50709816 50709816 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:50709816C>T ENST00000300590.3 - 3 319 c.147G>A c.(145-147)ctG>ctA p.L49L SNX20_ENST00000423026.2_Silent_p.L49L|SNX20_ENST00000330943.4_Silent_p.L49L NM_153337.2 NP_699168.1 Q7Z614 SNX20_HUMAN sorting nexin 20 49 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 AGTTGGAGCTCAGGCCACTGT 0.562000 25 64 0 0 0.005443 0 0 ARSA 410 broad.mit.edu 37 22 51065360 51065360 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:51065360G>A ENST00000547307.1 - 3 985 c.580C>T c.(580-582)Ctg>Ttg p.L194L ARSA_ENST00000216124.5_Silent_p.L196L|ARSA_ENST00000356098.5_Silent_p.L196L|ARSA_ENST00000395619.3_Silent_p.L196L|ARSA_ENST00000395621.3_Silent_p.L196L|ARSA_ENST00000547805.1_Silent_p.L194L|ARSA_ENST00000453344.2_Silent_p.L110L P15289 ARSA_HUMAN arylsulfatase A 194 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) AGTCCGGGCAGCCAGGGGGGC 0.672000 34 86 0 0 0.013726 0 0 KIAA1804 84451 broad.mit.edu 37 1 233511738 233511738 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:233511738G>A ENST00000366624.3 + 7 2013 c.1752G>A c.(1750-1752)agG>agA p.R584R MLK4_ENST00000366622.1_Silent_p.R30R NM_032435.2 NP_115811.2 ATGTAAAAAGGAATTTTAAGA 0.348000 9 46 0 0 0.006214 0 0 ZNF594 84622 broad.mit.edu 37 17 5085600 5085600 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:5085600G>A ENST00000399604.4 - 1 2092 c.1952C>T c.(1951-1953)cCc>cTc p.P651L ZNF594_ENST00000575779.1_Missense_Mutation_p.P651L Q96JF6 ZN594_HUMAN zinc finger protein 594 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ACATTCATAGGGTTTCTCTCC 0.423000 45 37 0 0 0.013114 0 0 C9orf163 158055 broad.mit.edu 37 9 139379493 139379493 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:139379493C>T ENST00000354376.1 + 1 1547 c.593C>T c.(592-594)tCc>tTc p.S198F NM_152571.2 NP_689784.1 Q8N9P6 CI163_HUMAN chromosome 9 open reading frame 163 198 protein binding kidney(1)|lung(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06) ACCCTGTGGTCCCACCGGGGT 0.607000 OREG0019617 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 9 0 0 0.009096 0 0 ATP9A 10079 broad.mit.edu 37 20 50287714 50287714 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:50287714G>A ENST00000338821.5 - 12 1384 c.1120C>T c.(1120-1122)Cgc>Tgc p.R374C ATP9A_ENST00000311637.5_Missense_Mutation_p.R238C|ATP9A_ENST00000402822.1_Missense_Mutation_p.R253C NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 374 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(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GTGCTGGAGCGAACCACGGTC 0.552000 22 45 0 0 0.014323 0 0 VWA7 80737 broad.mit.edu 37 6 31742374 31742374 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:31742374C>T ENST00000375686.3 - 5 877 c.640G>A c.(640-642)Gag>Aag p.E214K VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.E214K|VWA7_ENST00000375688.4_Missense_Mutation_p.E214K NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 214 extracellular region CAGCTCAACTCCTCGCAATCG 0.577000 79 293 0 0 0.014410 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769665 112769665 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:112769665G>A ENST00000390666.3 - 1 1063 c.872C>T c.(871-873)tCc>tTc p.S291F CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 291 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) AGTTCCCCGGGAACTCTCCCC 0.632000 16 26 0 0 0.004990 0 0 DSC1 1823 broad.mit.edu 37 18 28712551 28712551 + Missense_Mutation SNP C C T rs147041330 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:28712551C>T ENST00000257197.3 - 14 2479 c.2218G>A c.(2218-2220)Gga>Aga p.G740R DSC1_ENST00000257198.5_Missense_Mutation_p.G740R|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 740 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TCTCCAGGTCCTTCAGTATTT 0.343000 18 76 0 0 0.008871 0 0 LRRC47 57470 broad.mit.edu 37 1 3699293 3699293 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:3699293G>A ENST00000378251.1 - 5 1372 c.1345C>T c.(1345-1347)Ccg>Tcg p.P449S NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 449 translation phenylalanine-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) ACAAGACACGGGTAATTTTCA 0.443000 28 74 0 0 0.007291 0 0 GLDC 2731 broad.mit.edu 37 9 6620207 6620207 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:6620207C>T ENST00000321612.6 - 3 597 c.447G>A c.(445-447)cgG>cgA p.R149R NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 149 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCAGTAAGTTCCGCAAAATCG 0.443000 19 25 0 0 0.008871 0 0 MYO3B 140469 broad.mit.edu 37 2 171238569 171238569 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:171238569G>A ENST00000334231.6 + 10 1042 c.1042G>A c.(1042-1044)Gct>Act p.A348T MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.A339T|MYO3B_ENST00000408978.4_Missense_Mutation_p.A339T Q8WXR4 MYO3B_HUMAN myosin IIIB 339 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGTGGAAGATGCTGAAAAATA 0.363000 10 32 0 0 0.013537 0 0 SACS 26278 broad.mit.edu 37 13 23912862 23912862 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:23912862G>A ENST00000382298.3 - 10 5741 c.5153C>T c.(5152-5154)tCc>tTc p.S1718F SACS_ENST00000382292.3_Missense_Mutation_p.S1718F|SACS_ENST00000402364.1_Missense_Mutation_p.S968F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1718 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GGAAGAGCAGGATTTTTTTTT 0.358000 8 34 0 0 0.004482 0 0 SRGAP2 23380 broad.mit.edu 37 1 206634486 206634486 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:206634486C>T ENST00000414007.1 + 19 2517 c.2517C>T c.(2515-2517)ccC>ccT p.P839P O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 979 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) CCTTGGAGCCCCTCAAAACCT 0.622000 10 39 0 0 0.008291 0 0 SCRIB 23513 broad.mit.edu 37 8 144895852 144895852 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:144895852G>A ENST00000356994.2 - 4 407 c.401C>T c.(400-402)gCc>gTc p.A134V SCRIB_ENST00000377533.3_Missense_Mutation_p.A53V|SCRIB_ENST00000320476.3_Missense_Mutation_p.A134V NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 134 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ATCATTCAGGGCCAGGTGAGC 0.642000 17 30 0 0 0.007413 0 0 KIF16B 55614 broad.mit.edu 37 20 16354938 16354938 + Missense_Mutation SNP G G C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:16354938G>C ENST00000354981.2 - 20 3471 c.3314C>G c.(3313-3315)gCt>gGt p.A1105G KIF16B_ENST00000355755.3_Missense_Mutation_p.A1105G|KIF16B_ENST00000408042.1_Missense_Mutation_p.A1105G|KIF16B_ENST00000378003.2_Missense_Mutation_p.A331G NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 1105 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TGATTTTTCAGCACTGACTGG 0.473000 29 72 0 0 0.008361 0 0 SLC5A6 8884 broad.mit.edu 37 2 27427331 27427331 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:27427331G>A ENST00000310574.3 - 9 1476 c.1003C>T c.(1003-1005)Cag>Tag p.Q335* SLC5A6_ENST00000408041.1_Nonsense_Mutation_p.Q335* NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 335 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) CTTCTCACCTGGTCTGGGGCT 0.592000 14 48 0 0 0.020292 0 0 CHCHD5 84269 broad.mit.edu 37 2 113346455 113346455 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:113346455C>T ENST00000324913.5 + 4 529 c.322C>T c.(322-324)Cct>Tct p.P108S CHCHD5_ENST00000409719.1_3'UTR NM_032309.2 NP_115685.1 Q9BSY4 CHCH5_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 5 108 NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1) 7 ACAGCCACTTCCTGCCTCCTG 0.597000 5 23 0 0 0.014758 0 0 FAT3 120114 broad.mit.edu 37 11 92087445 92087445 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:92087445C>T ENST00000298047.6 + 1 2184 c.2167C>T c.(2167-2169)Cca>Tca p.P723S FAT3_ENST00000525166.1_Missense_Mutation_p.P573S|FAT3_ENST00000541502.1_Missense_Mutation_p.P723S|FAT3_ENST00000409404.2_Missense_Mutation_p.P723S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 723 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TAGACAGGGACCATATTTTGA 0.398000 TCGA Ovarian(4;0.039) 157 399 0 0 0.014410 0 0 NFASC 23114 broad.mit.edu 37 1 204949559 204949559 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:204949559C>T ENST00000367172.4 + 20 2566 c.2238C>T c.(2236-2238)atC>atT p.I746I NFASC_ENST00000367169.4_Silent_p.I746I|NFASC_ENST00000360049.4_Silent_p.I742I|NFASC_ENST00000339876.6_Silent_p.I746I|NFASC_ENST00000401399.1_Silent_p.I746I|NFASC_ENST00000338586.6_Silent_p.I746I|NFASC_ENST00000539706.1_Silent_p.I742I|NFASC_ENST00000367171.4_Silent_p.I731I|NFASC_ENST00000513543.1_Silent_p.I742I|NFASC_ENST00000404907.1_Silent_p.I742I|NFASC_ENST00000338515.6_Silent_p.I746I|NFASC_ENST00000367170.4_Silent_p.I746I|NFASC_ENST00000404076.1_Silent_p.I725I O94856 NFASC_HUMAN neurofascin 746 Fibronectin type-III 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACATGGAGATCACGTGGACGG 0.602000 15 13 0 0 0.004007 0 0 TRAV41 28640 broad.mit.edu 37 14 22788987 22788987 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:22788987C>T ENST00000390468.1 + 0 200 GGCATTGTTTCCTTGTTTATG 0.463000 10 17 0 0 0.010729 0 0 MIR519B 574469 broad.mit.edu 37 19 54198487 54198487 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:54198487G>A ENST00000385090.1 + 0 21 NR_030191.1 CCCTCTAGAGGGAAGCGCTTT 0.408000 38 76 0 0 0.009718 0 0 CTNNA2 1496 broad.mit.edu 37 2 80646705 80646705 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:80646705G>A ENST00000466387.1 + 13 1993 c.1269G>A c.(1267-1269)gaG>gaA p.E423E CTNNA2_ENST00000343114.3_Silent_p.E102E|CTNNA2_ENST00000402739.4_Silent_p.E423E|CTNNA2_ENST00000540488.1_Silent_p.E423E|CTNNA2_ENST00000496558.1_Silent_p.E423E|CTNNA2_ENST00000361291.4_Silent_p.E457E|CTNNA2_ENST00000541047.1_Silent_p.E423E P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 423 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TTTTCCGTGAGCATGCCAACA 0.443000 24 47 0 0 0.008361 0 0 TRRAP 8295 broad.mit.edu 37 7 98609157 98609157 + Splice_Site SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:98609157A>G ENST00000359863.4 + 71 11503 c.11295_splice c.e71+1 p.K3765_splice TRRAP_ENST00000446306.3_Splice_Site_p.K3754_splice|TRRAP_ENST00000355540.3_Splice_Site_p.K3736_splice NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3765 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCAAACTTTAAGGTGGGTCTC 0.622000 11 53 0 0 0.008291 0 0 MCF2 4168 broad.mit.edu 37 X 138670580 138670580 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:138670580C>T ENST00000520602.1 - 24 2853 c.2568G>A c.(2566-2568)gtG>gtA p.V856V MCF2_ENST00000370576.4_Silent_p.V796V|MCF2_ENST00000338585.6_Silent_p.V812V|MCF2_ENST00000536274.1_Silent_p.V757V|MCF2_ENST00000519895.1_Silent_p.V872V|MCF2_ENST00000414978.1_Silent_p.V856V|MCF2_ENST00000370573.4_Silent_p.V796V|MCF2_ENST00000370578.4_Silent_p.V941V P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 796 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) ACGTCATCTTCACATCTACAT 0.333000 17 28 0 0 0.007413 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104512202 104512202 + Silent SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:104512202A>T ENST00000372582.1 + 5 1431 c.675A>T c.(673-675)cgA>cgT p.R225R IL1RAPL2_ENST00000344799.4_Silent_p.R225R NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 225 Ig-like C2-type 2. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTGTAAGACGAACAACTGAAT 0.328000 11 22 0 0 0.008291 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805812 44805812 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:44805812C>T ENST00000309315.4 + 17 2415 c.2292C>T c.(2290-2292)acC>acT p.T764T ZMIZ2_ENST00000413916.1_Silent_p.T706T|ZMIZ2_ENST00000265346.7_Silent_p.T738T|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Silent_p.T764T|ZMIZ2_ENST00000433667.1_Silent_p.T732T NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 764 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCCCACCCACCACGCCCAGCA 0.632000 14 59 0 0 0.020292 0 0 VWA3B 200403 broad.mit.edu 37 2 98914416 98914416 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:98914416C>T ENST00000477737.1 + 24 3408 c.3204C>T c.(3202-3204)ttC>ttT p.F1068F VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1068 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGGTGGGCTTCAGTTACGGAG 0.537000 25 53 0 0 0.004656 0 0 IKBKE 9641 broad.mit.edu 37 1 206658624 206658624 + Nonsense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:206658624C>T ENST00000367120.3 + 15 1970 c.1597C>T c.(1597-1599)Cag>Tag p.Q533* IKBKE_ENST00000537984.1_Nonsense_Mutation_p.Q448*|IKBKE_ENST00000462698.1_3'UTR NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 533 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GAGCCGGGATCAGGTACATGA 0.567000 10 56 0 0 0.016723 0 0 LRWD1 222229 broad.mit.edu 37 7 102108588 102108588 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:102108588C>T ENST00000292616.5 + 6 910 c.758C>T c.(757-759)tCg>tTg p.S253L NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 253 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 GCCTCCCCGTCGGCCCAGGTG 0.687000 7 11 0 0 0.001984 0 0 NSUN7 79730 broad.mit.edu 37 4 40778268 40778268 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:40778268G>A ENST00000381782.2 + 7 1523 c.1028G>A c.(1027-1029)gGa>gAa p.G343E NSUN7_ENST00000316607.5_Missense_Mutation_p.G343E NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 ACAAAAATAGGATGTAAAAGT 0.264000 14 38 0 0 0.004990 0 0 XDH 7498 broad.mit.edu 37 2 31571809 31571809 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:31571809G>A ENST00000379416.3 - 27 3055 c.3007C>T c.(3007-3009)Ccc>Tcc p.P1003S NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1003 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AACTTGGTGGGAATTATGCAC 0.388000 11 20 0 0 0.013537 0 0 SYCP2L 221711 broad.mit.edu 37 6 10961628 10961628 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:10961628G>A ENST00000283141.6 + 27 2642 c.2346G>A c.(2344-2346)aaG>aaA p.K782K NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 782 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) ACCTTGAGAAGGAGGTTCTGG 0.383000 16 53 0 0 0.004007 0 0 OR11G2 390439 broad.mit.edu 37 14 20665781 20665781 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:20665781C>T ENST00000357366.3 + 1 287 c.287C>T c.(286-288)cCc>cTc p.P96L NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CTCCACGCCCCCATGTACATC 0.522000 21 65 0 0 0.021523 0 0 ATP4A 495 broad.mit.edu 37 19 36051759 36051759 + Missense_Mutation SNP T T G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:36051759T>G ENST00000262623.3 - 5 524 c.496A>C c.(496-498)Acc>Ccc p.T166P NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 166 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ATGATGTTGGTGCTCTTGAAT 0.567000 47 84 0 0 0.014410 0 0 LEMD3 23592 broad.mit.edu 37 12 65634721 65634721 + Missense_Mutation SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:65634721T>C ENST00000308330.2 + 9 2185 c.2159T>C c.(2158-2160)gTt>gCt p.V720A NM_001167614.1|NM_014319.4 NP_001161086.1|NP_055134.2 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 720 Interaction with SMAD1, SMAD2, SMAD3 and SMAD5. negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GATAGAGCTGTTGACTTCCTT 0.408000 18 15 0 0 0.008871 0 0 ITGA4 3676 broad.mit.edu 37 2 182360652 182360652 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:182360652C>T ENST00000397033.2 + 14 1958 c.1528C>T c.(1528-1530)Cca>Tca p.P510S NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 510 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CAAGGAAGTTCCAGGTTACAT 0.423000 18 60 0 0 0.008871 0 0 ZNF224 7767 broad.mit.edu 37 19 44610703 44610703 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:44610703C>T ENST00000336976.6 + 6 644 c.390C>T c.(388-390)ttC>ttT p.F130F AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 130 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) AAGGTGATTTCCCCTGCCAGA 0.433000 19 45 0 0 0.007413 0 0 DNAH17 8632 broad.mit.edu 37 17 76423064 76423064 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:76423064C>T ENST00000389840.5 - 78 12907 c.12783G>A c.(12781-12783)atG>atA p.M4261I DNAH17_ENST00000585328.1_Missense_Mutation_p.M4233I|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCAGGATGTTCATTCTTTCAC 0.542000 6 20 0 0 0.003080 0 0 GCNT3 9245 broad.mit.edu 37 15 59910965 59910965 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:59910965C>T ENST00000396065.1 + 3 976 c.528C>T c.(526-528)gtC>gtT p.V176V GCNT3_ENST00000560585.1_Silent_p.V176V NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 176 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AAGAGGCGGTCAAAGCAATTA 0.473000 30 63 0 0 0.006320 0 0 DTX1 1840 broad.mit.edu 37 12 113496249 113496249 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:113496249G>A ENST00000257600.3 + 1 755 c.252G>A c.(250-252)caG>caA p.Q84Q NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 84 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 AGTTTCGCCAGGACACAGGTG 0.612000 31 41 0 0 0.009535 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50664527 50664527 + Missense_Mutation SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:50664527T>C ENST00000439308.2 - 9 2277 c.1785A>G c.(1783-1785)atA>atG p.I595M TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.I595M NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 595 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CGCAGACGTATATGTCGTGGG 0.557000 52 149 0 0 0.014410 0 0 LOC644669 644669 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 3 10 0 0 0.003080 0 0 ASH1L 55870 broad.mit.edu 37 1 155429661 155429661 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:155429661G>A ENST00000368346.3 - 4 5652 c.5013C>T c.(5011-5013)tcC>tcT p.S1671S ASH1L_ENST00000392403.3_Silent_p.S1671S Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1671 Ser-rich. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATGGCCGCTGGGAGGGTTTAT 0.403000 27 55 0 0 0.008361 0 0 TPO 7173 broad.mit.edu 37 2 1520688 1520688 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:1520688C>T ENST00000345913.4 + 15 2643 c.2552C>T c.(2551-2553)tCc>tTc p.S851F TPO_ENST00000349624.3_Missense_Mutation_p.S678F|TPO_ENST00000382198.1_Missense_Mutation_p.S678F|TPO_ENST00000382201.3_Missense_Mutation_p.S794F|TPO_ENST00000346956.3_Missense_Mutation_p.S807F|TPO_ENST00000329066.4_Missense_Mutation_p.S851F|TPO_ENST00000337415.3_Missense_Mutation_p.S851F|TPO_ENST00000497517.2_3'UTR NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 851 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.S851F(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACTTGGATCTCCATGTCGCTG 0.572000 20 38 0 0 0.012319 0 0 INSRR 3645 broad.mit.edu 37 1 156813996 156813996 + Silent SNP A A C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:156813996A>C ENST00000368195.3 - 15 3210 c.2814T>G c.(2812-2814)gcT>gcG p.A938A NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 938 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AACCAAGGGCAGCAAGAACGA 0.587000 16 72 0 0 0.006122 0 0 PXDNL 137902 broad.mit.edu 37 8 52387578 52387578 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:52387578G>A ENST00000356297.4 - 7 748 c.648C>T c.(646-648)ctC>ctT p.L216L PXDNL_ENST00000543296.1_Silent_p.L216L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 216 LRRCT. 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) CACGCCCATGGAGTCTCCTGG 0.483000 5 10 0 0 0.014758 0 0 CHCHD3 54927 broad.mit.edu 37 7 132754950 132754950 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:132754950G>A ENST00000262570.5 - 2 265 c.121C>T c.(121-123)Cca>Tca p.P41S CHCHD3_ENST00000448878.1_Missense_Mutation_p.P41S|CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000542753.1_Missense_Mutation_p.P41S NM_017812.2 NP_060282.1 Q9NX63 CHCH3_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 3 41 inner mitochondrial membrane organization|mitochondrial fusion mitochondrial inner membrane protein complex scaffold endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 7 GAACCAGATGGAGAGGATTCC 0.358000 8 33 0 0 0.013537 0 0 FBLN2 2199 broad.mit.edu 37 3 13660447 13660447 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:13660447G>A ENST00000404922.3 + 7 2102 c.1983G>A c.(1981-1983)ctG>ctA p.L661L FBLN2_ENST00000492059.1_Silent_p.L661L|FBLN2_ENST00000535798.1_Silent_p.L687L|FBLN2_ENST00000295760.7_Silent_p.L661L NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 661 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AGCCTGCACTGAAGTCAGAAT 0.602000 8 18 0 0 0.008291 0 0 MEOX2 4223 broad.mit.edu 37 7 15666406 15666406 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:15666406C>T ENST00000262041.5 - 2 1064 c.655G>A c.(655-657)Gag>Aag p.E219K NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 219 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) ACTGCTATCTCGTATCGCCTC 0.418000 25 64 0 0 0.007291 0 0 KRT81 3887 broad.mit.edu 37 12 52681839 52681839 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:52681839C>T ENST00000327741.5 - 5 897 c.829G>A c.(829-831)Gag>Aag p.E277K KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron NM_002281.3 NP_002272.2 Q14533 KRT81_HUMAN keratin 81 277 Coil 2.|Rod. keratin filament protein binding|structural molecule activity breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1) 16 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCTTAATCTCGGCAATGATG 0.587000 25 39 0 0 0.018920 0 0 OR2L13 284521 broad.mit.edu 37 1 248263173 248263173 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:248263173C>T ENST00000366478.2 + 3 833 c.496C>T c.(496-498)Ccc>Tcc p.P166S OR2L13_ENST00000358120.2_Missense_Mutation_p.P166S NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCTTCATATTCCCTACTGCAG 0.458000 167 119 0 0 0.014410 0 0 FAM110B 90362 broad.mit.edu 37 8 59058929 59058929 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:59058929G>A ENST00000361488.3 + 5 1020 c.140G>A c.(139-141)aGg>aAg p.R47K FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 47 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) AACCCCAAGAGGCTCAGCGCC 0.672000 10 24 0 0 0.008291 0 0 MYH4 4622 broad.mit.edu 37 17 10351428 10351428 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:10351428C>T ENST00000255381.2 - 34 4782 c.4672G>A c.(4672-4674)Gaa>Aaa p.E1558K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1558 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGCCTTCTTCATGCTCAAGA 0.333000 40 29 0 0 0.006230 0 0 NEK2 4751 broad.mit.edu 37 1 211846988 211846988 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:211846988C>T ENST00000366999.4 - 3 530 c.392G>A c.(391-393)aGt>aAt p.S131N NEK2_ENST00000366998.3_Missense_Mutation_p.S131N|NEK2_ENST00000540251.1_Missense_Mutation_p.S88N NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 131 Protein kinase. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) ACCACCATCACTTCGTCTGTG 0.458000 28 112 0 0 0.007291 0 0 SPDYC 387778 broad.mit.edu 37 11 64939939 64939939 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:64939939G>A ENST00000377185.2 + 5 461 c.379G>A c.(379-381)Ggc>Agc p.G127S NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 127 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 GGACCTGGAGGGCCCCAAATG 0.557000 44 113 0 0 0.014410 0 0 TCF23 150921 broad.mit.edu 37 2 27373171 27373171 + Missense_Mutation SNP G G A rs138845716 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:27373171G>A ENST00000296096.5 + 2 533 c.403G>A c.(403-405)Gag>Aag p.E135K NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 135 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTCGGCCACGAGTTGCCTGG 0.642000 54 150 0 0 0.014410 0 0 CRHBP 1393 broad.mit.edu 37 5 76251650 76251650 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:76251650G>A ENST00000274368.4 + 4 928 c.506G>A c.(505-507)gGa>gAa p.G169E CRHBP_ENST00000506501.1_Missense_Mutation_p.G169E NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 169 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) CCAGGAAATGGATTCACATTA 0.443000 113 236 0 0 0.014410 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171375 207171375 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:207171375C>T ENST00000374423.3 + 5 2509 c.2123C>T c.(2122-2124)tCt>tTt p.S708F NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 708 nucleic acid binding|zinc ion binding p.S708C(2) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCTCTGAGTTCTGATTCTCCG 0.408000 18 36 0 0 0.006122 0 0 OR51I2 390064 broad.mit.edu 37 11 5475249 5475249 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:5475249C>T ENST00000341449.2 + 1 612 c.531C>T c.(529-531)tcC>tcT p.S177S HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTCTCACTCCTACTGCCTGC 0.478000 32 68 0 0 0.009535 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188595 140188595 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:140188595C>T ENST00000530339.1 + 1 1823 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S608L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S608L NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGCTTTCGTACGAGCTG 0.677000 22 63 0 0 0.014323 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136321 40136321 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:40136321G>A ENST00000278198.2 - 2 3485 c.1522C>T c.(1522-1524)Cca>Tca p.P508S LRRC4C_ENST00000528697.1_Missense_Mutation_p.P508S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P508S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P508S Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 508 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TCAGTCACTGGGATGGTGAAG 0.502000 22 43 0 0 0.012319 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837257 12837257 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:12837257G>A ENST00000357726.4 + 3 994 c.967G>A c.(967-969)Gag>Aag p.E323K NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 323 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGCTAAAAGAGCTAGACCT 0.572000 56 110 0 0 0.014410 0 0 TLL1 7092 broad.mit.edu 37 4 166946521 166946521 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:166946521C>T ENST00000061240.2 + 9 1743 c.1096C>T c.(1096-1098)Ccc>Tcc p.P366S TLL1_ENST00000513213.1_Missense_Mutation_p.P366S|TLL1_ENST00000507499.1_Missense_Mutation_p.P366S NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 366 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCCAGGATTTCCCAATGGCTA 0.383000 27 33 0 0 0.012213 0 0 ERO1L 30001 broad.mit.edu 37 14 53118997 53118997 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:53118997G>A ENST00000395686.3 - 13 1308 c.1085C>T c.(1084-1086)tCa>tTa p.S362L NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 362 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) AGCAAAAAATGAATTCTCATC 0.279000 19 52 0 0 0.010504 0 0 VSIG4 11326 broad.mit.edu 37 X 65259822 65259822 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:65259822G>A ENST00000455586.2 - 1 145 c.19C>T c.(19-21)Ctg>Ttg p.L7L VSIG4_ENST00000412866.2_Silent_p.L7L|VSIG4_ENST00000374737.4_Silent_p.L7L NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 7 complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGGAGTAGCAGGCCCAGTAAG 0.562000 20 14 0 0 0.004656 0 0 NTRK3 4916 broad.mit.edu 37 15 88476264 88476264 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:88476264C>T ENST00000394480.1 - 16 2189 c.1868G>A c.(1867-1869)gGa>gAa p.G623E NTRK3_ENST00000360948.2_Missense_Mutation_p.G623E|NTRK3_ENST00000357724.2_Missense_Mutation_p.G615E|NTRK3_ENST00000355254.2_Missense_Mutation_p.G623E|NTRK3_ENST00000557856.1_Missense_Mutation_p.G615E|NTRK3_ENST00000542733.2_Missense_Mutation_p.G525E|NTRK3_ENST00000558676.1_Missense_Mutation_p.G615E NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 623 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) ATTCAGGTCTCCATGCTTCAT 0.522000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 30 30 0 0 0.008361 0 0 ANXA3 306 broad.mit.edu 37 4 79507487 79507487 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:79507487C>T ENST00000264908.6 + 6 765 c.386C>T c.(385-387)tCt>tTt p.S129F ANXA3_ENST00000512884.1_Missense_Mutation_p.S90F|ANXA3_ENST00000503570.2_Missense_Mutation_p.S90F NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 129 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 AAGGATATCTCTCAAGCCTAT 0.383000 12 38 0 0 0.016723 0 0 GPATCH2 55105 broad.mit.edu 37 1 217784256 217784256 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:217784256G>A ENST00000366935.3 - 4 1103 c.993C>T c.(991-993)ccC>ccT p.P331P GPATCH2_ENST00000366934.3_Silent_p.P331P NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 331 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) GTGACATAAGGGGAAAAGAAC 0.438000 11 81 0 0 0.010729 0 0 DNAH5 1767 broad.mit.edu 37 5 13781008 13781008 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:13781008C>T ENST00000265104.4 - 53 8985 c.8881G>A c.(8881-8883)Gga>Aga p.G2961R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2961 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTCTGCTTTCCTGATCCGCCC 0.468000 Kartagener syndrome 9 21 0 0 0.004482 0 0 PCNXL2 80003 broad.mit.edu 37 1 233275579 233275579 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:233275579G>A ENST00000258229.8 - 20 3774 c.3540C>T c.(3538-3540)ttC>ttT p.F1180F PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.F313F NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1180 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGAGTCTTTCGAACCACATTA 0.323000 29 13 0 0 0.015359 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411703 105411703 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:105411703G>A ENST00000333244.5 - 7 10204 c.10085C>T c.(10084-10086)tCt>tTt p.S3362F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3362 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) CAGGTCCACAGAAGGGAGCTG 0.672000 80 103 0 0 0.014410 0 0 GPR162 27239 broad.mit.edu 37 12 6933632 6933632 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:6933632G>A ENST00000311268.3 + 2 1355 c.568G>A c.(568-570)Gga>Aga p.G190R GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 190 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GCTACTTGGGGGAATTGTCAT 0.632000 24 98 0 0 0.005443 0 0 COL7A1 1294 broad.mit.edu 37 3 48621382 48621382 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:48621382G>A ENST00000328333.8 - 38 4336 c.4229C>T c.(4228-4230)cCc>cTc p.P1410L COL7A1_ENST00000454817.1_Missense_Mutation_p.P1410L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1410 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGTCCAGGGGGACCCTGGGA 0.647000 21 31 0 0 0.012319 0 0 NBPF1 55672 broad.mit.edu 37 1 16893773 16893773 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:16893773G>A ENST00000430580.2 - 25 3627 c.2740C>T c.(2740-2742)Cct>Tct p.P914S NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 914 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TAACCTGAAGGAGTTGAATAA 0.483000 27 1347 0 0 0.020292 0 0 WFDC6 140870 broad.mit.edu 37 20 44168034 44168034 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:44168034C>T ENST00000600168.1 - 1 100 c.13G>A c.(13-15)Gga>Aga p.G5R EPPIN_ENST00000555685.1_Intron|WFDC6_ENST00000372670.3_Missense_Mutation_p.G5R|EPPIN-WFDC6_ENST00000504988.1_Intron WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) GGCAGAAGTCCTGAGAGTCCC 0.532000 52 51 0 0 0.014410 0 0 KRT9 3857 broad.mit.edu 37 17 39726149 39726149 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:39726149G>A ENST00000246662.4 - 3 909 c.844C>T c.(844-846)Cag>Tag p.Q282* KRT9_ENST00000588431.1_Nonsense_Mutation_p.Q49* NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 282 Coil 1B.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) AGCTCCTCCTGCAGAGTCTCA 0.552000 58 158 0 0 0.014410 0 0 FAM47C 442444 broad.mit.edu 37 X 37029029 37029029 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:37029029C>T ENST00000358047.3 + 1 2598 c.2546C>T c.(2545-2547)tCg>tTg p.S849L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 849 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGACACACATCGAGAAAACTC 0.468000 39 61 0 0 0.008740 0 0 CYP1A2 1544 broad.mit.edu 37 15 75047346 75047346 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:75047346G>A ENST00000343932.4 + 7 1531 c.1468G>A c.(1468-1470)Gac>Aac p.D490N NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 490 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CGTGAAAGTCGACCTGACCCC 0.602000 25 73 0 0 0.018920 0 0 HIVEP1 3096 broad.mit.edu 37 6 12164380 12164380 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:12164380C>T ENST00000379388.2 + 9 8175 c.7843C>T c.(7843-7845)Ctg>Ttg p.L2615L HIVEP1_ENST00000541134.1_Silent_p.L480L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2615 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AAAAAAAGTTCTGAATCCACC 0.542000 20 52 0 0 0.012319 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 10 77 0 0 0.010504 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310192 57310192 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:57310192G>A ENST00000457912.1 + 2 131 c.131G>A c.(130-132)gGa>gAa p.G44E SMTNL1_ENST00000527972.1_Missense_Mutation_p.G26E|SMTNL1_ENST00000399154.2_Missense_Mutation_p.G26E E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 26 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GAGATGTCAGGAGGTGGAGCC 0.582000 12 25 0 0 0.013537 0 0 OR4C13 283092 broad.mit.edu 37 11 49974176 49974176 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:49974176G>A ENST00000555099.1 + 1 234 c.202G>A c.(202-204)Gat>Aat p.D68N NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CTCCTTTATTGATGCCTGCTA 0.438000 55 174 0 0 0.014410 0 0 PSG3 5671 broad.mit.edu 37 19 43233381 43233381 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:43233381G>A ENST00000327495.5 - 5 1321 c.1137C>T c.(1135-1137)ctC>ctT p.L379L PSG3_ENST00000595140.1_Silent_p.L379L NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 379 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GGGGGATAAAGAGCTTTTGTC 0.463000 79 190 0 0 0.014410 0 0 MFN2 9927 broad.mit.edu 37 1 12066609 12066609 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:12066609C>T ENST00000235329.5 + 16 2053 c.1731C>T c.(1729-1731)atC>atT p.I577I MFN2_ENST00000444836.1_Silent_p.I577I NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 577 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AGCGTCCCATCCCTCTGACGC 0.597000 11 51 0 0 0.013537 0 0 LY9 4063 broad.mit.edu 37 1 160769730 160769730 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:160769730G>A ENST00000263285.5 + 2 342 c.312G>A c.(310-312)ctG>ctA p.L104L LY9_ENST00000368039.2_Silent_p.L104L|LY9_ENST00000368041.2_Silent_p.L64L|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Silent_p.L104L NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 104 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AAAGCTACCTGGGCCGACTAG 0.448000 69 67 0 0 0.014410 0 0 COL4A5 1287 broad.mit.edu 37 X 107821309 107821309 + Splice_Site SNP G G A rs104886074 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:107821309G>A ENST00000328300.6 + 12 891 c.645_splice c.e12-1 p.G216_splice COL4A5_ENST00000361603.2_Splice_Site_p.G216_splice NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 216 Triple-helical region. G -> R (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCTCTCCAGGGGAATATGGGC 0.368000 Alport syndrome with Diffuse Leiomyomatosis 16 16 0 0 0.003163 0 0 OR13C5 138799 broad.mit.edu 37 9 107360783 107360783 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:107360783C>T ENST00000374779.2 - 1 1005 c.912G>A c.(910-912)aaG>aaA p.K304K NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 TTACTGCCTCCTTCACATCCT 0.333000 15 42 0 0 0.003163 0 0 C8A 731 broad.mit.edu 37 1 57333298 57333298 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:57333298G>A ENST00000361249.3 + 2 190 c.94G>A c.(94-96)Gct>Act p.A32T NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 32 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 AAGACGGGCAGCTACACCCGC 0.463000 7 25 0 0 0.001984 0 0 MYO7B 4648 broad.mit.edu 37 2 128327441 128327441 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:128327441C>T ENST00000389524.4 + 6 601 c.548C>T c.(547-549)tCg>tTg p.S183L MYO7B_ENST00000409816.2_Missense_Mutation_p.S183L|MYO7B_ENST00000428314.1_Missense_Mutation_p.S183L Q6PIF6 MYO7B_HUMAN myosin VIIB 183 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGCCAGCATTCGTGGATTGAG 0.632000 16 19 0 0 0.003163 0 0 SPTAN1 6709 broad.mit.edu 37 9 131379952 131379952 + Silent SNP C C T rs146418243 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:131379952C>T ENST00000372739.3 + 42 5501 c.5391C>T c.(5389-5391)taC>taT p.Y1797Y SPTAN1_ENST00000358161.5_Silent_p.Y1797Y|SPTAN1_ENST00000372731.4_Silent_p.Y1792Y NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1792 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CAGAGGACTACGGCCGGGACC 0.587000 23 49 0 0 0.014323 0 0 HSD17B3 3293 broad.mit.edu 37 9 99013703 99013703 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:99013703G>A ENST00000375263.3 - 5 497 c.450C>T c.(448-450)atC>atT p.I150I HSD17B3_ENST00000375262.2_Silent_p.I150I NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 150 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) AGTCTACCTGGATTTCATCCG 0.488000 12 20 0 0 0.003163 0 0 TMSB10 9168 broad.mit.edu 37 2 85133146 85133146 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:85133146C>T ENST00000233143.4 + 2 114 c.5C>T c.(4-6)gCa>gTa p.A2V NM_021103.3 NP_066926.1 P63313 TYB10_HUMAN thymosin beta 10 2 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding endometrium(1) 1 AAGAAAATGGCAGACAAACCA 0.582000 11 37 0 0 0.013537 0 0 SCAND3 114821 broad.mit.edu 37 6 28540378 28540378 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:28540378C>T ENST00000452236.2 - 4 3905 c.3288G>A c.(3286-3288)gtG>gtA p.V1096V NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1096 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ctgtccaattcacatctttaa 0.363000 18 57 0 0 0.004990 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025567 203025567 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:203025567C>T ENST00000367240.2 + 17 2635 c.2108C>T c.(2107-2109)cCt>cTt p.P703L PPFIA4_ENST00000295706.4_Missense_Mutation_p.P218L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P218L|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P702L|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P431L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P218L O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 218 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 ACTTCTCCTCCTTCCTCACCC 0.567000 32 34 0 0 0.013726 0 0 COL21A1 81578 broad.mit.edu 37 6 55932118 55932118 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:55932118C>T ENST00000244728.5 - 23 2499 c.2102G>A c.(2101-2103)gGa>gAa p.G701E COL21A1_ENST00000370819.1_Missense_Mutation_p.G698E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G101E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G701E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 701 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACCTTGATTTCCTTTGTCCCC 0.299000 12 32 0 0 0.016723 0 0 CEACAM5 1048 broad.mit.edu 37 19 42231166 42231166 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:42231166C>T ENST00000221992.6 + 9 2153 c.2039C>T c.(2038-2040)tCt>tTt p.S680F CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S679F|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S680F NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 680 anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TCTGGAACTTCTCCTGGTCTC 0.498000 154 324 0 0 0.014410 0 0 CACNA1E 777 broad.mit.edu 37 1 181754921 181754921 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:181754921C>T ENST00000526775.1 + 42 5860 c.5695C>T c.(5695-5697)Ctg>Ttg p.L1899L CACNA1E_ENST00000357570.5_Silent_p.L1869L|CACNA1E_ENST00000360108.3_Silent_p.L1899L|CACNA1E_ENST00000367573.2_Silent_p.L1918L|CACNA1E_ENST00000367570.1_Silent_p.L1918L|CACNA1E_ENST00000367567.4_Silent_p.L1525L|CACNA1E_ENST00000358338.5_Silent_p.L1850L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1918 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGCCAAAGCCCTGCCTTACCT 0.522000 145 172 0 0 0.014410 0 0 ZNF626 199777 broad.mit.edu 37 19 20808398 20808398 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:20808398G>A ENST00000601440.1 - 4 431 c.285C>T c.(283-285)ttC>ttT p.F95F CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 CCACTTTTTGGAAAGAATCTT 0.348000 16 68 0 0 0.006122 0 0 IGFN1 91156 broad.mit.edu 37 1 201195161 201195161 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:201195161G>A ENST00000335211.4 + 22 10826 c.10696G>A c.(10696-10698)Gaa>Aaa p.E3566K IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCCCGGCCACGAATACCACTT 0.677000 11 40 0 0 0.016723 0 0 FGF12 2257 broad.mit.edu 37 3 191888297 191888297 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:191888297C>T ENST00000454309.2 - 4 1388 c.563G>A c.(562-564)aGa>aAa p.R188K FGF12_ENST00000430714.1_Missense_Mutation_p.R89K|FGF12_ENST00000264730.3_Missense_Mutation_p.R126K|FGF12_ENST00000450716.1_Missense_Mutation_p.R126K|FGF12_ENST00000445105.1_Missense_Mutation_p.R126K NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 188 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTTCTTCACTCTGTTCCCCTT 0.428000 39 108 0 0 0.005524 0 0 RBFOX1 54715 broad.mit.edu 37 16 7743345 7743345 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:7743345G>A ENST00000547372.1 + 15 1459 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E299K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E363K|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E359K Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 51 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TGCAGCAGATGAAATTTCTTG 0.398000 29 33 0 0 0.015359 0 0 CNGA2 1260 broad.mit.edu 37 X 150906982 150906982 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:150906982G>A ENST00000329903.4 + 1 60 c.27G>A c.(25-27)aaG>aaA p.K9K NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 9 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) ATGGTGTGAAGAGCTCCCCAG 0.517000 45 81 0 0 0.014410 0 0 PAPPA2 60676 broad.mit.edu 37 1 176675571 176675571 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:176675571G>A ENST00000367662.3 + 10 4606 c.3442G>A c.(3442-3444)Ggt>Agt p.G1148S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1148 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCTGGAGGAAGGTTTCAACTG 0.418000 8 45 0 0 0.003080 0 0 IPCEF1 26034 broad.mit.edu 37 6 154533966 154533966 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:154533966C>T ENST00000265198.4 - 9 627 c.472G>A c.(472-474)Gaa>Aaa p.E158K IPCEF1_ENST00000422970.2_Missense_Mutation_p.E159K|IPCEF1_ENST00000519344.1_Missense_Mutation_p.E130K|IPCEF1_ENST00000519091.1_5'UTR|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Missense_Mutation_p.E159K NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 TCTGGATCTTCCTGTTCACTT 0.418000 6 7 0 0 0.001168 0 0 CRIM1 51232 broad.mit.edu 37 2 36744665 36744665 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:36744665C>T ENST00000280527.2 + 12 2553 c.2186C>T c.(2185-2187)tCc>tTc p.S729F NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 729 VWFC 4. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) ACCCAGGATTCCTGCTGCCCA 0.612000 18 52 0 0 0.008871 0 0 BOLL 66037 broad.mit.edu 37 2 198636606 198636606 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:198636606C>T ENST00000409845.1 + 3 192 c.187C>T c.(187-189)Ctc>Ttc p.L63F BOLL_ENST00000321801.7_Silent_p.E163E|BOLL_ENST00000430004.1_Silent_p.E151E|BOLL_ENST00000392296.4_Silent_p.E151E|BOLL_ENST00000433157.1_Silent_p.E151E|BOLL_ENST00000282278.8_Silent_p.E42E CCGAAGTTACCTCTGGAGTAT 0.338000 11 25 0 0 0.010729 0 0 OR8K3 219473 broad.mit.edu 37 11 56086282 56086282 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:56086282C>T ENST00000312711.1 + 1 500 c.500C>T c.(499-501)tCc>tTc p.S167F NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TTTACTTTATCCTTCTGTGGC 0.373000 23 57 0 0 0.021523 0 0 PLA2G7 7941 broad.mit.edu 37 6 46678293 46678293 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:46678293C>T ENST00000274793.7 - 8 962 c.766G>A c.(766-768)Gaa>Aaa p.E256K PLA2G7_ENST00000541026.1_Missense_Mutation_p.E129K|PLA2G7_ENST00000538237.1_Missense_Mutation_p.E211K|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E256K NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 256 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TTCAGTTGTTCCATATCAAAC 0.328000 14 62 0 0 0.016723 0 0 PDGFB 5155 broad.mit.edu 37 22 39627771 39627771 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:39627771G>A ENST00000331163.6 - 4 1099 c.312C>T c.(310-312)ttC>ttT p.F104F PDGFB_ENST00000381551.4_Silent_p.F89F NM_002608.2 NP_002599.1 P01127 PDGFB_HUMAN platelet-derived growth factor beta polypeptide 104 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) GGGAGATCTCGAACACCTCGG 0.647000 T COL1A1 DFSP 3 15 0 0 0.009096 0 0 ITGA6 3655 broad.mit.edu 37 2 173334104 173334104 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:173334104G>A ENST00000375221.2 + 4 842 c.639G>A c.(637-639)tgG>tgA p.W213* ITGA6_ENST00000409080.1_Nonsense_Mutation_p.W213*|ITGA6_ENST00000264107.7_Nonsense_Mutation_p.W213*|ITGA6_ENST00000264106.6_Nonsense_Mutation_p.W213*|ITGA6_ENST00000343713.4_Nonsense_Mutation_p.W213*|ITGA6_ENST00000409532.1_Nonsense_Mutation_p.W99* P23229 ITA6_HUMAN integrin, alpha 6 213 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CTTATAACTGGAAAGGTATGA 0.358000 19 36 0 0 0.010504 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672787 141672787 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:141672787G>A ENST00000547270.1 - 1 786 c.703C>T c.(703-705)Cgt>Tgt p.R235C NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 235 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CTGGGGTCACGAGAGTTTCTG 0.498000 26 42 0 0 0.021523 0 0 ADD1 118 broad.mit.edu 37 4 2896428 2896428 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:2896428C>T ENST00000355842.3 + 7 1574 c.711C>T c.(709-711)gtC>gtT p.V237V ADD1_ENST00000398125.1_Silent_p.V237V|ADD1_ENST00000398123.2_Silent_p.V237V|ADD1_ENST00000264758.7_Silent_p.V237V|ADD1_ENST00000398129.1_Silent_p.V237V|ADD1_ENST00000513328.2_Silent_p.V237V|ADD1_ENST00000503455.2_Silent_p.V237V|ADD1_ENST00000446856.1_Silent_p.V237V P35611 ADDA_HUMAN adducin 1 (alpha) 237 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGAAGTGCGTCGTGCACATTC 0.547000 7 24 0 0 0.001984 0 0 PTCHD2 57540 broad.mit.edu 37 1 11576105 11576105 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:11576105C>T ENST00000294484.6 + 6 1774 c.1636C>T c.(1636-1638)Cac>Tac p.H546Y PTCHD2_ENST00000389575.3_Missense_Mutation_p.H546Y NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 546 SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCAGGCCACCCACCTGGAAGA 0.592000 14 27 0 0 0.016723 0 0 BCL9L 283149 broad.mit.edu 37 11 118773104 118773104 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:118773104G>A ENST00000334801.3 - 6 2312 c.1348C>T c.(1348-1350)Ccc>Tcc p.P450S BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 450 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TGCTGGGGGGGAGGGGGGGCT 0.672000 16 12 0 0 0.003163 0 0 NXF3 56000 broad.mit.edu 37 X 102334395 102334395 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:102334395C>T ENST00000395065.3 - 15 1328 c.1227G>A c.(1225-1227)cgG>cgA p.R409R NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Silent_p.R81R NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 409 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 GCAGCTCCCCCCGAAGGTCTG 0.542000 41 50 0 0 0.006999 0 0 MMP20 9313 broad.mit.edu 37 11 102480670 102480670 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:102480670G>A ENST00000260228.2 - 4 627 c.615C>T c.(613-615)ttC>ttT p.F205F RP11-817J15.2_ENST00000542119.1_RNA NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 205 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) CAGCATTGTCGAAATGTGTAT 0.473000 14 55 0 0 0.007413 0 0 NSUN6 221078 broad.mit.edu 37 10 18837064 18837064 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:18837064G>A ENST00000377304.4 - 10 1592 c.1174C>T c.(1174-1176)Cct>Tct p.P392S NSUN6_ENST00000493816.1_5'UTR NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 392 methyltransferase activity|RNA binding endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 TGAAGGCAAGGAAATTTTGTC 0.453000 5 14 0 0 0.001168 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42373300 42373300 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:42373300C>T ENST00000290472.3 - 12 1083 c.989G>A c.(988-990)gGa>gAa p.G330E NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 330 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CCGGGCACCTCCTCCTGTGGC 0.602000 21 45 0 0 0.010504 0 0 ZNF831 128611 broad.mit.edu 37 20 57768949 57768949 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:57768949G>A ENST00000371030.2 + 1 2875 c.2875G>A c.(2875-2877)Gga>Aga p.G959R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 959 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) CATTCCCTGGGGACCAAGGCA 0.592000 24 93 0 0 0.006320 0 0 UNC5D 137970 broad.mit.edu 37 8 35453116 35453116 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:35453116C>T ENST00000287272.2 + 4 531 c.511C>T c.(511-513)Ccc>Tcc p.P171S UNC5D_ENST00000416672.1_Missense_Mutation_p.P171S|UNC5D_ENST00000420357.1_Missense_Mutation_p.P171S|UNC5D_ENST00000404895.2_Missense_Mutation_p.P171S|UNC5D_ENST00000453357.2_Missense_Mutation_p.P166S Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 171 Ig-like C2-type. 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) AAGGGAAGTTCCCATTGAAGG 0.493000 31 97 0 0 0.017118 0 0 UBR4 23352 broad.mit.edu 37 1 19439325 19439325 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:19439325C>T ENST00000375267.2 - 78 11497 c.11494G>A c.(11494-11496)Gac>Aac p.D3832N UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375254.3_Missense_Mutation_p.D3832N|UBR4_ENST00000375217.2_Missense_Mutation_p.D3825N|UBR4_ENST00000375226.2_Missense_Mutation_p.D3808N Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3832 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGCTGTAGGTCATATTCCAAC 0.463000 93 211 0 0 0.014410 0 0 GSAP 54103 broad.mit.edu 37 7 77010632 77010632 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:77010632C>T ENST00000257626.7 - 8 644 c.566G>A c.(565-567)gGa>gAa p.G189E NM_017439.3 NP_059135.2 gamma-secretase activating protein p.G189V(1) CACTCTATTTCCATCTTCTTG 0.284000 13 27 0 0 0.004007 0 0 CACNA1C 775 broad.mit.edu 37 12 2690876 2690876 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:2690876C>T ENST00000399655.1 + 14 2281 c.2016C>T c.(2014-2016)ctC>ctT p.L672L CACNA1C_ENST00000406454.3_Silent_p.L672L|CACNA1C_ENST00000399637.1_Silent_p.L672L|CACNA1C_ENST00000344100.3_Silent_p.L672L|CACNA1C_ENST00000347598.4_Silent_p.L672L|CACNA1C_ENST00000399603.1_Silent_p.L672L|CACNA1C_ENST00000399597.1_Silent_p.L672L|CACNA1C_ENST00000399601.1_Silent_p.L672L|CACNA1C_ENST00000327702.7_Silent_p.L672L|CACNA1C_ENST00000399606.1_Silent_p.L672L|CACNA1C_ENST00000399649.1_Silent_p.L672L|CACNA1C_ENST00000399621.1_Silent_p.L672L|CACNA1C_ENST00000399629.1_Silent_p.L672L|CACNA1C_ENST00000399634.1_Silent_p.L672L|CACNA1C_ENST00000399641.1_Silent_p.L672L|CACNA1C_ENST00000480911.1_Silent_p.L672L|CACNA1C_ENST00000402845.3_Silent_p.L672L|CACNA1C_ENST00000399595.1_Silent_p.L672L|CACNA1C_ENST00000335762.5_Silent_p.L697L|CACNA1C_ENST00000399638.1_Silent_p.L672L|CACNA1C_ENST00000399644.1_Silent_p.L672L|CACNA1C_ENST00000399591.1_Silent_p.L672L|CACNA1C_ENST00000399617.1_Silent_p.L672L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 672 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGATGCAGCTCTTTGGAGGAA 0.532000 18 25 0 0 0.007413 0 0 SGCG 6445 broad.mit.edu 37 13 23808834 23808834 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:23808834G>A ENST00000218867.3 + 3 404 c.280G>A c.(280-282)Gaa>Aaa p.E94K SGCG_ENST00000537476.1_Missense_Mutation_p.E94K|SGCG_ENST00000545013.1_Missense_Mutation_p.E94K NM_000231.2 NP_000222.1 Q13326 SGCG_HUMAN sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 94 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) GTATGCCAAAGAAATACACTC 0.333000 22 60 0 0 0.016522 0 0 ZNF569 148266 broad.mit.edu 37 19 37904182 37904182 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:37904182G>A ENST00000316950.6 - 6 1935 c.1378C>T c.(1378-1380)Cat>Tat p.H460Y ZNF569_ENST00000392149.2_Missense_Mutation_p.H460Y|ZNF569_ENST00000392150.2_Missense_Mutation_p.H301Y NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCCCCAGTATGAATTCTCTGG 0.358000 12 27 0 0 0.010729 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 7 62 0 0 0.004482 0 0 ATP13A4 84239 broad.mit.edu 37 3 193232524 193232524 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:193232524G>A ENST00000342695.4 - 2 519 c.197C>T c.(196-198)tCc>tTc p.S66F ATP13A4_ENST00000392443.3_Missense_Mutation_p.S66F|ATP13A4_ENST00000295548.3_Missense_Mutation_p.S66F NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 66 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTCTTGCAAGGAACATGGGAC 0.512000 36 105 0 0 0.005524 0 0 CYP21A2 1589 broad.mit.edu 37 6 32008216 32008216 + Missense_Mutation SNP G G A rs150804717 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:32008216G>A ENST00000418967.2 + 8 1131 c.973G>A c.(973-975)Gaa>Aaa p.E325K CYP21A2_ENST00000435122.2_Missense_Mutation_p.E295K NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 324 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 GCTAGACCACGAACTGGGCCC 0.682000 57 268 0 0 0.014410 0 0 KMT2C 58508 broad.mit.edu 37 7 151841956 151841956 + Missense_Mutation SNP A A C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:151841956A>C ENST00000355193.2 - 56 14574 c.14356T>G c.(14356-14358)Tta>Gta p.L4786V KMT2C_ENST00000262189.6_Missense_Mutation_p.L4729V lysine (K)-specific methyltransferase 2C GTGCTGTTTAAGGTGTGAGGC 0.423000 10 27 0 0 0.008291 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296092 233296092 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:233296092G>A ENST00000258229.8 - 19 3688 c.3454C>T c.(3454-3456)Ccc>Tcc p.P1152S PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.P285S NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1152 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CACATCCAGGGATGATGCTTG 0.433000 15 84 0 0 0.004007 0 0 BPGM 669 broad.mit.edu 37 7 134346748 134346748 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:134346748G>A ENST00000393132.2 + 3 978 c.489G>A c.(487-489)gaG>gaA p.E163E BPGM_ENST00000418040.1_Silent_p.E163E|BPGM_ENST00000344924.3_Silent_p.E163E NM_199186.2 NP_954655.1 P07738 PMGE_HUMAN 2,3-bisphosphoglycerate mutase 163 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 ATGTTCTGGAGAGACTCCTTC 0.453000 16 56 0 0 0.004990 0 0 CHAD 1101 broad.mit.edu 37 17 48546023 48546023 + Missense_Mutation SNP T T A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:48546023T>A ENST00000508540.1 - 1 304 c.152A>T c.(151-153)gAg>gTg p.E51V ACSF2_ENST00000506085.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.E51V|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 51 LRRNT. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CTTGGTCTTCTCTGACACCTT 0.627000 7 27 0 0 0.003080 0 0 MYO3B 140469 broad.mit.edu 37 2 171371487 171371487 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:171371487G>A ENST00000334231.6 + 29 3454 c.3454G>A c.(3454-3456)Gga>Aga p.G1152R MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.G1143R|MYO3B_ENST00000409044.3_Missense_Mutation_p.G1116R Q8WXR4 MYO3B_HUMAN myosin IIIB 1143 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 AGGTACGAGGGGAAGTGCCGA 0.502000 16 38 0 0 0.006122 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994858 143994858 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:143994858G>A ENST00000323110.2 - 6 966 c.964C>T c.(964-966)Ccc>Tcc p.P322S NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 322 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity p.P322T(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) ATCAGCAAGGGAAACGCTGTC 0.632000 Familial Hyperaldosteronism type I 22 63 0 0 0.016522 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795706 69795706 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:69795706C>T ENST00000251566.4 - 6 1439 c.1409G>A c.(1408-1410)gGa>gAa p.G470E UGT2A3_ENST00000420231.2_Missense_Mutation_p.G181E NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 470 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTGCTTGGCTCCTTTGTGGCG 0.488000 26 80 0 0 0.006320 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35129946 35129946 + RNA SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:35129946A>T ENST00000436258.1 - 0 3423 TTCTCACAACACACCATGCCT 0.323000 33 102 0 0 0.019004 0 0 BAIAP2 10458 broad.mit.edu 37 17 79077448 79077448 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:79077448C>T ENST00000321300.6 + 8 882 c.789C>T c.(787-789)tcC>tcT p.S263S BAIAP2_ENST00000416299.2_Silent_p.S126S|BAIAP2_ENST00000428708.2_Silent_p.S263S|BAIAP2_ENST00000575245.1_Silent_p.S296S|BAIAP2_ENST00000435091.3_Silent_p.S263S|BAIAP2_ENST00000321280.7_Silent_p.S263S|BAIAP2_ENST00000392411.3_Silent_p.S185S|BAIAP2_ENST00000575712.1_Silent_p.S263S NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 263 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CCTCCAAGTCCAACCTGGTCA 0.697000 11 37 0 0 0.013537 0 0 NAT2 10 broad.mit.edu 37 8 18257576 18257576 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:18257576G>A ENST00000286479.3 + 2 170 c.63G>A c.(61-63)ttG>ttA p.L21L NAT2_ENST00000520116.1_Intron NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 21 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity p.L21F(1) kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) AATTGGACTTGGAAACATTAA 0.398000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 39 83 0 0 0.021022 0 0 ALG3 10195 broad.mit.edu 37 3 183962422 183962422 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:183962422G>A ENST00000455059.1 - 5 1027 c.573C>T c.(571-573)gcC>gcT p.A191A ALG3_ENST00000418734.2_Silent_p.A175A|ALG3_ENST00000397676.3_Silent_p.A231A|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Silent_p.A183A Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 231 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTTGGGGAGGGCCCCACGGA 0.552000 5 14 0 0 0.001168 0 0 OR13C9 286362 broad.mit.edu 37 9 107379675 107379675 + Missense_Mutation SNP C C T rs143297558 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:107379675C>T ENST00000259362.1 - 1 810 c.811G>A c.(811-813)Gat>Aat p.D271N NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TCCAAGTCATCTGAATTAAGT 0.398000 29 76 0 0 0.009535 0 0 MFSD1 64747 broad.mit.edu 37 3 158539803 158539803 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:158539803C>T ENST00000415822.2 + 11 1239 c.1098C>T c.(1096-1098)tcC>tcT p.S366S MFSD1_ENST00000392813.4_Silent_p.S327S|MFSD1_ENST00000264266.8_Silent_p.S317S NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 317 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTCCCATGTCCCCGGTGTTTG 0.458000 23 41 0 0 0.021523 0 0 OSMR 9180 broad.mit.edu 37 5 38881857 38881857 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:38881857G>A ENST00000274276.3 + 4 811 c.409G>A c.(409-411)Gaa>Aaa p.E137K OSMR_ENST00000502536.1_Missense_Mutation_p.E137K NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 137 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TTCCTGGGAGGAAGTCAGTGG 0.418000 30 82 0 0 0.019004 0 0 CPED1 79974 broad.mit.edu 37 7 120768439 120768439 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:120768439G>A ENST00000310396.5 + 11 1773 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K CPED1_ENST00000423795.1_Missense_Mutation_p.E216K|CPED1_ENST00000450913.2_Missense_Mutation_p.E436K NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 AATACAGGGTGAAAACTATCA 0.358000 25 48 0 0 0.004656 0 0 CYBA 1535 broad.mit.edu 37 16 88713214 88713214 + Missense_Mutation SNP A A T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:88713214A>T ENST00000569359.1 - 4 252 c.236T>A c.(235-237)cTg>cAg p.L79Q CYBA_ENST00000567174.1_Missense_Mutation_p.L79Q|CYBA_ENST00000261623.3_Missense_Mutation_p.L79Q P13498 CY24A_HUMAN cytochrome b-245, alpha polypeptide 79 cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport NADPH oxidase complex|stored secretory granule electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding endometrium(1)|liver(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0478) GGGCCCGAACAGCTTCACCAC 0.652000 23 49 0 0 0.021523 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915878 39915878 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:39915878G>A ENST00000425673.1 + 17 4343 c.4018G>A c.(4018-4020)Gaa>Aaa p.E1340K PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E1369K|PLEKHG2_ENST00000378550.1_Splice_Site_p.E560_splice|PLEKHG2_ENST00000458508.2_Splice_Site_p.R1191_splice|PLEKHG2_ENST00000409797.2_Splice_Site_p.E560_splice Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 1369 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTCCACACAGGAATCTATGGG 0.632000 12 34 0 0 0.013537 0 0 ACTR1B 10120 broad.mit.edu 37 2 98275374 98275374 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:98275374G>A ENST00000289228.5 - 5 624 c.408C>T c.(406-408)gcC>gcT p.A136A NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 136 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 AGATGAACAGGGCCGGCACGT 0.617000 31 75 0 0 0.010818 0 0 SREBF2 6721 broad.mit.edu 37 22 42269900 42269900 + Missense_Mutation SNP G G T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:42269900G>T ENST00000361204.4 + 5 1132 c.966G>T c.(964-966)caG>caT p.Q322H NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 322 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GAGTCAAGCAGCTTGAGCCCC 0.498000 18 23 1.99824e-07 2.20109e-07 0.004990 1 0 AKR1C4 1109 broad.mit.edu 37 10 5254973 5254973 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:5254973C>T ENST00000380448.1 + 9 950 c.697C>T c.(697-699)Cca>Tca p.P233S AKR1C4_ENST00000263126.1_Missense_Mutation_p.P233S P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 233 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) CCCAAACTCCCCAGTTCTTTT 0.512000 12 26 0 0 0.016723 0 0 TMEM104 54868 broad.mit.edu 37 17 72832478 72832478 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:72832478G>A ENST00000335464.5 + 10 1305 c.1143G>A c.(1141-1143)aaG>aaA p.K381K TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.K381K NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 381 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) ACAACTGGAAGACACTCTTCC 0.637000 54 85 0 0 0.014410 0 0 DENND1A 57706 broad.mit.edu 37 9 126371733 126371733 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:126371733G>A ENST00000373624.2 - 11 948 c.747C>T c.(745-747)atC>atT p.I249I DENND1A_ENST00000373620.3_Silent_p.I249I|DENND1A_ENST00000373618.1_Silent_p.I217I|DENND1A_ENST00000394219.3_Silent_p.I217I|DENND1A_ENST00000394215.2_Silent_p.I219I|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.I33I NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 249 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 AACTTAAATGGATTCCTATGA 0.473000 9 38 0 0 0.010729 0 0 VPS35 55737 broad.mit.edu 37 16 46708511 46708511 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:46708511C>T ENST00000299138.7 - 9 1034 c.976G>A c.(976-978)Gat>Aat p.D326N VPS35_ENST00000568642.1_5'UTR NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 326 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GAAAATATATCAAAAAGTTTA 0.348000 4 16 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9005651 9005651 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9005651C>T ENST00000397910.4 - 46 39958 c.39755G>A c.(39754-39756)aGa>aAa p.R13252K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13254 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGCTGCTGTCTGTCTAGCCC 0.592000 27 92 0 0 0.007291 0 0 APOB 338 broad.mit.edu 37 2 21235180 21235180 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:21235180C>T ENST00000233242.1 - 26 4687 c.4560G>A c.(4558-4560)ctG>ctA p.L1520L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1520 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGTTAAACCTCAGGTTGGACT 0.507000 129 340 0 0 0.014410 0 0 CETN1 1068 broad.mit.edu 37 18 580850 580850 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:580850G>A ENST00000327228.3 + 1 484 c.442G>A c.(442-444)Gaa>Aaa p.E148K NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 148 EF-hand 4. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding p.E148K(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 GATGATCGACGAAGCTGATCG 0.537000 20 35 0 0 0.010504 0 0 MAP3K19 80122 broad.mit.edu 37 2 135743584 135743584 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:135743584G>A ENST00000375845.3 - 7 2888 c.2858C>T c.(2857-2859)tCc>tTc p.S953F MAP3K19_ENST00000358371.4_Missense_Mutation_p.S840F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S970F|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 AATTTCTTGGGAAATTGAATT 0.308000 13 24 0 0 0.020292 0 0 SSX6 280657 broad.mit.edu 37 X 47978993 47978993 + Missense_Mutation SNP G G A rs77470044 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:47978993G>A ENST00000319275.3 + 7 616 c.250G>A c.(250-252)Gac>Aac p.D84N SSX6_ENST00000376932.2_Missense_Mutation_p.D182N large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 AGAGATCAGCGACCCTGAGGA 0.498000 155 167 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 8993392 8993392 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:8993392C>T ENST00000397910.4 - 66 41900 c.41697G>A c.(41695-41697)agG>agA p.R13899R MUC16_ENST00000380951.5_Silent_p.R540R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13902 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGACTGTCCCTGTCCAGTG 0.562000 50 133 0 0 0.014410 0 0 COL5A2 1290 broad.mit.edu 37 2 189929782 189929782 + Splice_Site SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:189929782C>T ENST00000374866.3 - 24 1839 c.1563_splice c.e24-1 p.G522_splice NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 522 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) GCCAGGAGCACCCTACAAATG 0.403000 6 18 0 0 0.001984 0 0 CEACAM16 388551 broad.mit.edu 37 19 45208946 45208946 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:45208946C>T ENST00000587331.1 + 5 963 c.748C>T c.(748-750)Ctg>Ttg p.L250L CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.L250L NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 250 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) GTCCCTCACCCTGTGGTGCGT 0.602000 141 300 0 0 0.014410 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558700 113558700 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:113558700C>T ENST00000284601.3 - 1 420 c.352G>A c.(352-354)Gat>Aat p.D118N NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 118 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGCATAAGATCTTCTTTTGAA 0.393000 15 36 0 0 0.003163 0 0 CLTCL1 8218 broad.mit.edu 37 22 19184075 19184075 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:19184075G>A ENST00000263200.10 - 25 4038 c.3966C>T c.(3964-3966)atC>atT p.I1322I CLTCL1_ENST00000427926.1_Silent_p.I1322I|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Silent_p.I1322I NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1322 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TGGAGTAGAGGATGGCCAGCT 0.557000 T ? ALCL 8 14 0 0 0.004482 0 0 C1orf168 199920 broad.mit.edu 37 1 57257889 57257889 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:57257889G>A ENST00000343433.6 - 2 677 c.597C>T c.(595-597)caC>caT p.H199H C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 199 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GGGCCACCACGTGCTTCTGGG 0.478000 42 102 0 0 0.011902 0 0 SLC12A4 6560 broad.mit.edu 37 16 67991822 67991822 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:67991822G>A ENST00000422611.2 - 3 513 c.474C>T c.(472-474)atC>atT p.I158I SLC12A4_ENST00000537830.2_Silent_p.I150I|SLC12A4_ENST00000576616.1_Silent_p.I156I|SLC12A4_ENST00000316341.3_Silent_p.I156I|SLC12A4_ENST00000338335.3_Silent_p.I156I|SLC12A4_ENST00000541864.2_Silent_p.I125I|SLC12A4_ENST00000572037.1_Silent_p.I108I|SLC12A4_ENST00000572010.1_5'UTR NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 156 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGATAAGCACGATGAGGAGGG 0.632000 11 38 0 0 0.008291 0 0 LIFR 3977 broad.mit.edu 37 5 38490385 38490385 + Nonsense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:38490385G>A ENST00000263409.4 - 15 2236 c.2074C>T c.(2074-2076)Cga>Tga p.R692* LIFR_ENST00000453190.2_Nonsense_Mutation_p.R692* NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 692 Fibronectin type-III 5. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATACCTGGTCGAAACTCATCT 0.279000 T PLAG1 salivary adenoma 24 65 0 0 0.004656 0 0 IL10RB 3588 broad.mit.edu 37 21 34668535 34668535 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:34668535C>T ENST00000290200.2 + 7 959 c.851C>T c.(850-852)cCa>cTa p.P284L NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 TTCTCCTTTCCATTGTCGGAT 0.448000 32 115 0 0 0.009535 0 0 SLC22A20 440044 broad.mit.edu 37 11 64985156 64985156 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:64985156C>T ENST00000525437.1 + 0 669 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 ACTCCGTCTCCCTGGTGAGTC 0.652000 11 21 0 0 0.016723 0 0 FCRL4 83417 broad.mit.edu 37 1 157556241 157556241 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:157556241G>A ENST00000271532.1 - 6 987 c.852C>T c.(850-852)atC>atT p.I284I FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 284 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CAGACACAGGGATCCCTATGT 0.602000 43 55 0 0 0.010771 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592245 1592245 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:1592245G>A ENST00000279477.7 - 2 255 c.191C>T c.(190-192)cCc>cTc p.P64L SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.P64L|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 64 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCACTGGATGGGCCCCACAGG 0.537000 16 59 0 0 0.004990 0 0 NLRC5 84166 broad.mit.edu 37 16 57093400 57093400 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:57093400C>T ENST00000436936.1 + 30 4167 c.3942C>T c.(3940-3942)ttC>ttT p.F1314F NLRC5_ENST00000262510.6_Silent_p.F1314F|NLRC5_ENST00000308149.7_Silent_p.F1285F|NLRC5_ENST00000539144.1_Silent_p.F1285F Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1314 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) AGCAGAGCTTCCGGATTCACT 0.622000 4 19 0 0 0.009096 0 0 KIAA1804 84451 broad.mit.edu 37 1 233515097 233515097 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:233515097C>T ENST00000366624.3 + 9 2606 c.2345C>T c.(2344-2346)tCc>tTc p.S782F MLK4_ENST00000366622.1_Missense_Mutation_p.S228F NM_032435.2 NP_115811.2 AGCCTGCCATCCACCTGTGGG 0.597000 26 121 0 0 0.006320 0 0 LOC644669 644669 broad.mit.edu 37 18 15323347 15323347 + RNA SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:15323347T>C ENST00000455308.2 - 0 501 NR_027417.1 CCAATAAAAGTGGTGTGTGGC 0.303000 3 9 0 0 0.009096 0 0 CTU2 348180 broad.mit.edu 37 16 88780099 88780099 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:88780099C>T ENST00000567949.1 + 9 1140 c.1131C>T c.(1129-1131)ccC>ccT p.P377P CTU2_ENST00000312060.5_Silent_p.P306P|CTU2_ENST00000453996.2_Silent_p.P306P|CTU2_ENST00000378384.3_Silent_p.P219P Q2VPK5 CTU2_HUMAN cytosolic thiouridylase subunit 2 homolog (S. pombe) 306 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 TGGTGCGGCCCATGCGGGACC 0.647000 27 70 0 0 0.004656 0 0 INPP5D 3635 broad.mit.edu 37 2 234078703 234078703 + Missense_Mutation SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:234078703T>C ENST00000359570.5 + 17 1648 c.1648T>C c.(1648-1650)Ttc>Ctc p.F550L INPP5D_ENST00000455936.2_Missense_Mutation_p.F314L|INPP5D_ENST00000450745.1_Missense_Mutation_p.F314L|INPP5D_ENST00000538935.1_Missense_Mutation_p.F549L Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 562 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CATTCTCCGGTTCCTGGCCCT 0.532000 37 109 0 0 0.010771 0 0 ENAM 10117 broad.mit.edu 37 4 71508384 71508384 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:71508384G>A ENST00000396073.3 + 9 1522 c.1241G>A c.(1240-1242)gGa>gAa p.G414E ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 414 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CACCCTGTAGGAACTACTGTT 0.458000 33 58 0 0 0.010818 0 0 OR52B4 143496 broad.mit.edu 37 11 4389432 4389432 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:4389432G>A ENST00000408920.2 - 1 184 c.94C>T c.(94-96)Cca>Tca p.P32S NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGAAGAATGGGATAGAAATC 0.517000 12 17 0 0 0.020292 0 0 PCSK5 5125 broad.mit.edu 37 9 78911597 78911597 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:78911597G>A ENST00000545128.1 + 27 3877 c.3339G>A c.(3337-3339)agG>agA p.R1113R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 816 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GTTGTGTGAGGAAATGTGGTC 0.488000 15 23 0 0 0.004990 0 0 KIAA0319 9856 broad.mit.edu 37 6 24556956 24556956 + Splice_Site SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:24556956A>G ENST00000535378.1 - 19 3351 c.2707_splice c.e19-1 p.G903_splice KIAA0319_ENST00000543707.1_Splice_Site_p.G912_splice|KIAA0319_ENST00000378214.3_Splice_Site_p.G912_splice|KIAA0319_ENST00000430948.2_Splice_Site_p.G867_splice|KIAA0319_ENST00000537886.1_Splice_Site_p.G912_splice NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 912 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TCAGAAGGCAACCTGCAAAGA 0.478000 8 45 0 0 0.004482 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001430 52001430 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:52001430C>T ENST00000291707.3 - 5 1302 c.1247G>A c.(1246-1248)gGg>gAg p.G416E SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G298E NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 416 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GGTCAGGCTCCCCCAGGTCCA 0.622000 19 52 0 0 0.008871 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204197305 204197305 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:204197305C>T ENST00000272203.3 - 21 3253 c.2937G>A c.(2935-2937)caG>caA p.Q979Q PLEKHA6_ENST00000414478.1_Silent_p.Q999Q NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 979 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TCTCTGAGTCCTGGGGCACGT 0.627000 20 83 0 0 0.014323 0 0 SLC10A2 6555 broad.mit.edu 37 13 103698526 103698526 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:103698526G>A ENST00000245312.3 - 6 1600 c.1004C>T c.(1003-1005)tCg>tTg p.S335L NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 335 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CTTATAAAACGATGACTCTGG 0.373000 22 33 0 0 0.018920 0 0 MYO16 23026 broad.mit.edu 37 13 109707473 109707473 + Splice_Site SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr13:109707473G>A ENST00000356711.2 + 26 3188 c.3063_splice c.e26+1 p.R1021_splice MYO16_ENST00000457511.2_Splice_Site_p.R533_splice|MYO16_ENST00000357550.2_Splice_Site_p.R1021_splice NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1021 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCACAACTCAGGGTTAGTGAC 0.303000 17 29 0 0 0.008871 0 0 MUC13 56667 broad.mit.edu 37 3 124641140 124641140 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:124641140G>A ENST00000311075.3 - 4 683 c.645C>T c.(643-645)ttC>ttT p.F215F NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 215 SEA. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 TCTTCCCAGGGAATACCTTTC 0.338000 15 26 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 9064452 9064452 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:9064452G>A ENST00000397910.4 - 3 23197 c.22994C>T c.(22993-22995)tCc>tTc p.S7665F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7667 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGCCCATGGAAGTGGTCAT 0.522000 13 30 0 0 0.013537 0 0 WNK2 65268 broad.mit.edu 37 9 96031005 96031005 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:96031005C>T ENST00000297954.4 + 18 4010 c.4010C>T c.(4009-4011)tCc>tTc p.S1337F WNK2_ENST00000349097.3_Missense_Mutation_p.S949F|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.S949F|WNK2_ENST00000395477.2_Missense_Mutation_p.S1337F|WNK2_ENST00000395475.2_3'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1337 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCTCTAAGCTCCCTGCCGCCA 0.627000 9 22 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179444756 179444756 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:179444756C>T ENST00000589042.1 - 318 67482 c.67258G>A c.(67258-67260)Gag>Aag p.E22420K TTN_ENST00000460472.2_Missense_Mutation_p.E13355K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13547K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13480K|TTN_ENST00000342992.6_Missense_Mutation_p.E19852K|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20779K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20779 Ig-like 116. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATTTTCCCTCCTCCAAATTA 0.438000 47 99 0 0 0.014410 0 0 CLCN1 1180 broad.mit.edu 37 7 143028368 143028368 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:143028368C>T ENST00000343257.2 + 9 1110 c.1023C>T c.(1021-1023)ttC>ttT p.F341F NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 341 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GAATGGATTTCCCCTTTGACC 0.507000 25 86 0 0 0.007291 0 0 TRIM49 57093 broad.mit.edu 37 11 89531591 89531591 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:89531591C>T ENST00000329758.1 - 8 1394 c.1066G>A c.(1066-1068)Ggt>Agt p.G356S TRIM49_ENST00000532501.2_Missense_Mutation_p.G279S NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 356 B30.2/SPRY. intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTACAGACACCAAAAGCCCAA 0.438000 22 85 0 0 0.005443 0 0 NT5C3A 51251 broad.mit.edu 37 7 33063712 33063712 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:33063712C>T ENST00000396152.2 - 4 446 c.144G>A c.(142-144)acG>acA p.T48T AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Silent_p.T87T|NT5C3A_ENST00000409467.1_Silent_p.T36T|NT5C3A_ENST00000405342.1_Silent_p.T48T|NT5C3A_ENST00000381626.2_Silent_p.T36T|NT5C3A_ENST00000409787.1_Silent_p.T48T NM_016489.12 NP_057573.2 5'-nucleotidase, cytosolic IIIA TATCAAAGTCCGTTATTATCT 0.348000 5 16 0 0 0.014758 0 0 PEG10 23089 broad.mit.edu 37 7 94293524 94293524 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:94293524C>T ENST00000482108.1 + 2 1135 c.656C>T c.(655-657)tCc>tTc p.S219F PEG10_ENST00000488574.1_Missense_Mutation_p.S219F NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 219 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GAGGAGCTCTCCCACCTCGAG 0.592000 35 76 0 0 0.006230 0 0 UNC79 57578 broad.mit.edu 37 14 94173080 94173080 + Nonsense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:94173080C>T ENST00000553484.1 + 51 7958 c.7804C>T c.(7804-7806)Cag>Tag p.Q2602* UNC79_ENST00000393151.2_Nonsense_Mutation_p.Q2580*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.Q2403*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.Q2541* Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2580 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCTTCGCCTCCAGGCTATTCA 0.587000 23 35 0 0 0.021523 0 0 MNDA 4332 broad.mit.edu 37 1 158815488 158815488 + Missense_Mutation SNP C C G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:158815488C>G ENST00000368141.4 + 5 943 c.682C>G c.(682-684)Cca>Gca p.P228A NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 228 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) ATACGAGTCCCCAGAAAATGG 0.448000 21 28 0 0 0.016522 0 0 ATAD2B 54454 broad.mit.edu 37 2 24021187 24021187 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:24021187G>A ENST00000238789.5 - 19 2804 c.2461C>T c.(2461-2463)Cgt>Tgt p.R821C ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 821 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGAGCTTCACGAAAAATCTAA 0.363000 10 20 0 0 0.008291 0 0 MUC16 94025 broad.mit.edu 37 19 8999468 8999468 + Nonsense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:8999468C>T ENST00000397910.4 - 56 40910 c.40707G>A c.(40705-40707)tgG>tgA p.W13569* MUC16_ENST00000380951.5_Nonsense_Mutation_p.W210* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13571 SEA 10. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCTCAGCTCCCAGTATAGCT 0.577000 62 186 0 0 0.014410 0 0 DSC3 1825 broad.mit.edu 37 18 28605749 28605749 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr18:28605749G>A ENST00000434452.1 - 5 761 c.607C>T c.(607-609)Cgt>Tgt p.R203C DSC3_ENST00000360428.4_Missense_Mutation_p.R203C NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 203 Cadherin 1. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding p.R203C(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TATTCTTCACGATCCACAGGC 0.338000 13 34 0 0 0.020292 0 0 UGT2B4 7363 broad.mit.edu 37 4 70360938 70360938 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:70360938C>T ENST00000305107.6 - 1 688 c.642G>A c.(640-642)atG>atA p.M214I UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.M214I|UGT2B4_ENST00000381096.3_Missense_Mutation_p.M78I NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 214 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 GCACATAGATCATATTTTTTA 0.358000 14 34 0 0 0.016723 0 0 DAB2IP 153090 broad.mit.edu 37 9 124535728 124535728 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr9:124535728C>T ENST00000408936.3 + 12 3103 c.2921C>T c.(2920-2922)tCc>tTc p.S974F DAB2IP_ENST00000309989.1_Missense_Mutation_p.S850F|DAB2IP_ENST00000259371.2_Missense_Mutation_p.S946F Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 974 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 TCCTCTTCCTCCAAGGGGGAC 0.657000 7 9 0 0 0.003080 0 0 KLHL4 56062 broad.mit.edu 37 X 86887333 86887333 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:86887333G>A ENST00000373119.4 + 7 1593 c.1448G>A c.(1447-1449)gGa>gAa p.G483E KLHL4_ENST00000373114.4_Missense_Mutation_p.G483E NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 483 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GTCGTGGGAGGAAGAGACGGT 0.448000 14 17 0 0 0.016723 0 0 SLFN13 146857 broad.mit.edu 37 17 33770934 33770934 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:33770934G>A ENST00000285013.6 - 4 1347 c.1072C>T c.(1072-1074)Cct>Tct p.P358S SLFN13_ENST00000360502.2_Missense_Mutation_p.P40S|SLFN13_ENST00000533791.1_Missense_Mutation_p.P358S|SLFN13_ENST00000542635.1_Missense_Mutation_p.P358S|SLFN13_ENST00000534689.1_Missense_Mutation_p.P40S|SLFN13_ENST00000526861.1_Missense_Mutation_p.P358S NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 358 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAGTCTGGAGGAAACTCTGAA 0.393000 17 22 0 0 0.004990 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769189 15769189 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:15769189G>A ENST00000221307.7 + 10 1279 c.1231G>A c.(1231-1233)Ggc>Agc p.G411S CYP4F3_ENST00000591058.1_Missense_Mutation_p.G411S|CYP4F3_ENST00000585846.1_Missense_Mutation_p.G411S|CYP4F3_ENST00000586182.1_Missense_Mutation_p.G411S NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 411 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GCTCCCAGACGGCCGGGTCAT 0.642000 23 55 0 0 0.012319 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088187 17088187 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:17088187G>A ENST00000443236.1 - 15 1921 c.1890C>T c.(1888-1890)ttC>ttT p.F630F CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 583 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTGGTTTTCGAAGAAGGTCT 0.612000 38 56 0 0 0.006230 0 0 MEP1A 4224 broad.mit.edu 37 6 46806867 46806867 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:46806867G>A ENST00000230588.4 + 14 2244 c.2235G>A c.(2233-2235)agG>agA p.R745R NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 745 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) AAAGGCCAAGGAAGTGACCTG 0.557000 18 49 0 0 0.007413 0 0 INPP5B 3633 broad.mit.edu 37 1 38343860 38343860 + Splice_Site SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:38343860C>T ENST00000373023.2 - 16 2010 c.1917_splice c.e16+1 p.G639_splice INPP5B_ENST00000373026.1_Splice_Site_p.G639_splice|INPP5B_ENST00000373024.3_Splice_Site_p.G559_splice|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Splice_Site_p.G395_splice NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 639 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGCCACCTACCCCGATGTCAA 0.483000 16 67 0 0 0.003163 0 0 OR51F2 119694 broad.mit.edu 37 11 4842792 4842792 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:4842792C>T ENST00000322110.5 + 1 242 c.177C>T c.(175-177)atC>atT p.I59I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGCATGATCCTGTTTGTGG 0.488000 62 127 0 0 0.014410 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962911 69962911 + Missense_Mutation SNP G G A rs146308452 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:69962911G>A ENST00000305231.7 + 1 719 c.673G>A c.(673-675)Gaa>Aaa p.E225K UGT2B7_ENST00000508661.1_Missense_Mutation_p.E225K|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 225 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E225K(1) 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 CTTTTGGTTCGAAATATTTGA 0.318000 23 45 0 0 0.012319 0 0 FLNB 2317 broad.mit.edu 37 3 58139289 58139289 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:58139289G>A ENST00000295956.4 + 39 6720 c.6555G>A c.(6553-6555)gtG>gtA p.V2185V FLNB_ENST00000490882.1_Silent_p.V2216V|FLNB_ENST00000493452.1_Silent_p.V1992V|FLNB_ENST00000429972.2_Silent_p.V2174V|FLNB_ENST00000419752.2_Silent_p.V2005V|FLNB_ENST00000358537.3_Silent_p.V2161V|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Silent_p.V2144V NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2185 Interaction with FLNA 1.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGTTCACCGTGGGGCCACTTG 0.662000 28 28 0 0 0.005443 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280083 22280083 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:22280083C>T ENST00000390431.3 + 0 272 GAAACCACTTCTTTCCACTTG 0.498000 17 32 0 0 0.004990 0 0 EMR1 2015 broad.mit.edu 37 19 6901952 6901952 + Missense_Mutation SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:6901952A>G ENST00000312053.4 + 6 618 c.581A>G c.(580-582)aAc>aGc p.N194S EMR1_ENST00000381404.4_Missense_Mutation_p.N142S|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.N194S|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000601198.1_3'UTR NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 194 EGF-like 4; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) ACTGTTGGAAACTACTCTTGT 0.483000 70 201 0 0 0.014410 0 0 KCNN3 3782 broad.mit.edu 37 1 154744721 154744721 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:154744721G>A ENST00000271915.3 - 3 1493 c.1178C>T c.(1177-1179)tCc>tTc p.S393F KCNN3_ENST00000361147.4_Missense_Mutation_p.S88F|KCNN3_ENST00000358505.2_Missense_Mutation_p.S80F NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 398 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGTGTGTAGGAGAAGGCCAG 0.607000 8 37 0 0 0.006214 0 0 OLFML3 56944 broad.mit.edu 37 1 114524268 114524268 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:114524268C>T ENST00000369551.1 + 4 1326 c.1038C>T c.(1036-1038)ccC>ccT p.P346P OLFML3_ENST00000320334.4_Silent_p.P366P|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Silent_p.P346P Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 366 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTATTTTCCCCGCAGATATG 0.582000 15 43 0 0 0.004007 0 0 LMAN1L 79748 broad.mit.edu 37 15 75105204 75105204 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:75105204G>A ENST00000309664.5 + 1 148 c.9G>A c.(7-9)gcG>gcA p.A3A LMAN1L_ENST00000379709.3_Silent_p.A3A NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 3 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CGATGCCGGCGGTCAGTGGTC 0.647000 45 57 0 0 0.013114 0 0 RLTPR 146206 broad.mit.edu 37 16 67681857 67681857 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:67681857G>A ENST00000334583.6 + 13 1395 c.1067G>A c.(1066-1068)aGt>aAt p.S356N RLTPR_ENST00000545661.1_Missense_Mutation_p.S356N NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 356 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TCCGAGGACAGTGGGGTGAGT 0.672000 14 13 0 0 0.004007 0 0 ZNF148 7707 broad.mit.edu 37 3 124952531 124952531 + Missense_Mutation SNP G G T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:124952531G>T ENST00000360647.4 - 9 1524 c.1039C>A c.(1039-1041)Cct>Act p.P347T ZNF148_ENST00000484491.1_Missense_Mutation_p.P347T|ZNF148_ENST00000485866.1_Missense_Mutation_p.P347T|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.P347T|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 347 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 GAATAAAGAGGCAAGTAATCA 0.363000 14 40 1.05317e-09 1.1628e-09 0.020292 1 0 PCDHB1 29930 broad.mit.edu 37 5 140433453 140433453 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:140433453G>A ENST00000306549.3 + 1 2475 c.2398G>A c.(2398-2400)Gat>Aat p.D800N NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 800 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCAAATTCTGATAGGAATAA 0.443000 37 65 0 0 0.019004 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120372 38120372 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:38120372C>T ENST00000406386.3 + 7 2064 c.1809C>T c.(1807-1809)gcC>gcT p.A603A RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 603 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CATCCTGTGCCCAGCGGGACA 0.587000 14 227 0 0 0.003163 0 0 IGSF10 285313 broad.mit.edu 37 3 151164524 151164524 + Missense_Mutation SNP G G C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:151164524G>C ENST00000282466.3 - 4 3244 c.3245C>G c.(3244-3246)cCa>cGa p.P1082R 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 1082 cell differentiation|multicellular organismal development|ossification extracellular region p.P1082R(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) AGCAGCACTTGGAAAAGACAA 0.488000 35 77 0 0 0.017118 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436926 72436926 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:72436926C>T ENST00000392627.1 + 2 2272 c.1146C>T c.(1144-1146)ttC>ttT p.F382F GPRC5C_ENST00000392629.2_Silent_p.F349F|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Silent_p.F22F NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 337 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 AGAGCATGTTCGTGGAGAACA 0.582000 24 42 0 0 0.004656 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398197 77398197 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:77398197C>T ENST00000282849.5 - 5 1278 c.860G>A c.(859-861)gGa>gAa p.G287E NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 287 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G287E(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTGTGATTTTCCAGCTGATCT 0.488000 28 55 0 0 0.008361 0 0 GATM 2628 broad.mit.edu 37 15 45660331 45660331 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:45660331G>A ENST00000396659.3 - 4 951 c.612C>T c.(610-612)ttC>ttT p.F204F GATM_ENST00000558336.1_Silent_p.F204F NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 204 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) CGCCACGGTGGAAGTAGTCTT 0.473000 11 30 0 0 0.013537 0 0 KCNK1 3775 broad.mit.edu 37 1 233807082 233807082 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:233807082C>T ENST00000366621.3 + 3 985 c.817C>T c.(817-819)Ctg>Ttg p.L273L KCNK1_ENST00000366620.1_Silent_p.L157L|KCNK1_ENST00000472190.1_3'UTR NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 273 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) ACTCCATGAGCTGAAAAAATT 0.443000 16 94 0 0 0.003163 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829338 146829338 + Splice_Site SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:146829338G>A ENST00000361727.3 + 8 1601 c.1083_splice c.e8-1 p.G362_splice NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 362 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.G362E(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATTTTACAGGGAAATTTGAGC 0.433000 HNSCC(39;0.1) 38 64 0 0 0.008740 0 0 ABCD3 5825 broad.mit.edu 37 1 94956753 94956753 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:94956753C>T ENST00000370214.4 + 16 1360 c.1336C>T c.(1336-1338)Cct>Tct p.P446S ABCD3_ENST00000536817.1_Missense_Mutation_p.P373S|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.P470S|ABCD3_ENST00000394233.2_Missense_Mutation_p.P336S NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 446 ABC transporter. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TGATCATGTTCCTTTAGCAAC 0.269000 15 30 0 0 0.004990 0 0 PIANP 196500 broad.mit.edu 37 12 6806658 6806658 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr12:6806658G>A ENST00000534837.1 - 3 547 c.318C>T c.(316-318)atC>atT p.I106I PIANP_ENST00000540656.1_Silent_p.I106I|PIANP_ENST00000320591.5_Silent_p.I106I NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein GACCCCACACGATAGCCCAGG 0.622000 11 19 0 0 0.008291 0 0 TSKS 60385 broad.mit.edu 37 19 50245250 50245250 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:50245250G>A ENST00000246801.3 - 9 1471 c.1389C>T c.(1387-1389)tcC>tcT p.S463S TSKS_ENST00000358830.3_Silent_p.S263S NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 463 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GCTGCTGCAGGGACTCCGTAG 0.627000 14 38 0 0 0.004007 0 0 CYP2C9 1559 broad.mit.edu 37 10 96707649 96707649 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:96707649G>A ENST00000260682.6 + 4 607 c.595G>A c.(595-597)Gaa>Aaa p.E199K NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 199 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TAACTTAATGGAAAAGTTGAA 0.383000 22 37 0 0 0.014323 0 0 DDX41 51428 broad.mit.edu 37 5 176943935 176943935 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:176943935C>T ENST00000507955.1 - 1 535 c.12G>A c.(10-12)tcG>tcA p.S4S DDX41_ENST00000506965.1_5'UTR NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 4 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GTTCGGGTTCCGACTCCTCCA 0.662000 10 32 0 0 0.008291 0 0 EPPK1 83481 broad.mit.edu 37 8 144944041 144944041 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:144944041C>T ENST00000525985.1 - 2 3452 c.3381G>A c.(3379-3381)caG>caA p.Q1127Q P58107 EPIPL_HUMAN epiplakin 1 1127 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCTCTGGACCTGCTCCTCGG 0.672000 6 7 0 0 0.003080 0 0 CYP2S1 29785 broad.mit.edu 37 19 41700509 41700509 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:41700509G>A ENST00000310054.4 + 2 454 c.238G>A c.(238-240)Gtc>Atc p.V80I CYP2S1_ENST00000542619.1_5'UTR NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 80 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GCCTGTGGTGGTCCTGGTTGG 0.627000 13 39 0 0 0.013537 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 171384 171384 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:171384C>T ENST00000283426.6 + 14 2857 c.2807C>T c.(2806-2808)cCc>cTc p.P936L NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 936 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CTGCTGCGGCCCGTGCAGCGT 0.687000 4 16 0 0 0.001984 0 0 MERTK 10461 broad.mit.edu 37 2 112786409 112786409 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:112786409G>A ENST00000295408.4 + 19 3225 c.2968G>A c.(2968-2970)Gac>Aac p.D990N MERTK_ENST00000409780.1_Missense_Mutation_p.D814N|MERTK_ENST00000421804.2_Missense_Mutation_p.D990N Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 990 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GTTTGCTGACGACTCCTCAGA 0.507000 17 51 0 0 0.006122 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033087 20033087 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:20033087G>A ENST00000377340.2 - 2 414 c.383C>T c.(382-384)tCc>tTc p.S128F CRNKL1_ENST00000536226.1_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.S116F NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 128 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 AAACAAACAGGATCTCGGAAC 0.587000 57 58 0 0 0.014410 0 0 LILRB4 11006 broad.mit.edu 37 19 55179409 55179409 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:55179409C>T ENST00000391736.1 + 14 1601 c.1286C>T c.(1285-1287)cCa>cTa p.P429L LILRB4_ENST00000391734.3_Missense_Mutation_p.P376L|LILRB4_ENST00000391733.3_Missense_Mutation_p.P430L|LILRB4_ENST00000430952.2_Missense_Mutation_p.P428L|LILRB4_ENST00000270452.2_Missense_Mutation_p.P429L NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 429 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GAGCCTCCTCCATCCCAGGAA 0.617000 29 79 0 0 0.010818 0 0 POP4 10775 broad.mit.edu 37 19 30106215 30106215 + Silent SNP G G T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:30106215G>T ENST00000585603.1 + 7 2893 c.591G>T c.(589-591)ggG>ggT p.G197G POP4_ENST00000392279.3_Silent_p.G116G|POP4_ENST00000221770.3_Silent_p.G73G|POP4_ENST00000591824.1_3'UTR O95707 RPP29_HUMAN processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 197 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease P activity|RNA binding breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) ACATTTACGGGAGCAAATTCC 0.418000 13 30 4.3838e-07 4.8064e-07 0.016723 1 0 KRT12 3859 broad.mit.edu 37 17 39019761 39019761 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:39019761G>A ENST00000251643.4 - 5 1094 c.1071C>T c.(1069-1071)atC>atT p.I357I NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 357 Coil 2.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) ACTGTAGCTCGATCTCCAGGT 0.552000 13 36 0 0 0.020292 0 0 LAD1 3898 broad.mit.edu 37 1 201353961 201353961 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:201353961C>T ENST00000391967.2 - 5 1435 c.1134G>A c.(1132-1134)atG>atA p.M378I LAD1_ENST00000367313.3_Missense_Mutation_p.M392I NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 378 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 TCTTGGGTTTCATCTGAAATG 0.527000 66 64 0 0 0.014410 0 0 C22orf42 150297 broad.mit.edu 37 22 32554976 32554976 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:32554976G>A ENST00000382097.3 - 1 299 c.227C>T c.(226-228)tCc>tTc p.S76F NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 76 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 TTTACCTTTGGACATCTTCAG 0.547000 43 131 0 0 0.013114 0 0 GPA33 10223 broad.mit.edu 37 1 167059496 167059496 + Nonsense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:167059496C>T ENST00000367868.3 - 1 372 c.29G>A c.(28-30)tGg>tAg p.W10* NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 10 integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 ACAGAGTGTCCACAACACAGG 0.572000 18 43 0 0 0.016522 0 0 REG4 83998 broad.mit.edu 37 1 120337285 120337285 + Missense_Mutation SNP C C T rs150927973 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:120337285C>T ENST00000354219.1 - 7 872 c.433G>A c.(433-435)Gaa>Aaa p.E145K REG4_ENST00000256585.5_Missense_Mutation_p.E145K|REG4_ENST00000530654.1_3'UTR NM_001159352.1 NP_001152824.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 145 C-type lectin. extracellular region sugar binding p.E145K(2) central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) TTGTTGCATTCGTTGCTGCTC 0.423000 170 372 0 0 0.014410 0 0 C21orf59 56683 broad.mit.edu 37 21 33982302 33982302 + Silent SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:33982302T>C ENST00000382549.4 - 2 495 c.153A>G c.(151-153)ttA>ttG p.L51L C21orf59_ENST00000540881.1_Intron|C21orf59_ENST00000290155.3_Silent_p.L51L|C21ORF59_ENST00000607686.1_Silent_p.L51L P57076 CU059_HUMAN chromosome 21 open reading frame 59 51 cytosol|nucleus endometrium(2)|large_intestine(1)|prostate(1)|skin(1) 5 CATGTTCGGCTAATTCTTCCA 0.403000 15 26 0 0 0.004007 0 0 USH2A 7399 broad.mit.edu 37 1 216373145 216373145 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:216373145G>A ENST00000366943.2 - 17 4021 c.3635C>T c.(3634-3636)cCa>cTa p.P1212L USH2A_ENST00000307340.3_Missense_Mutation_p.P1212L|USH2A_ENST00000366942.3_Missense_Mutation_p.P1212L|RP5-1099E6.3_ENST00000420867.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1212 Fibronectin type-III 2. P -> L (in USH2A). 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) CTTGGCAAATGGAACCAGATT 0.498000 HNSCC(13;0.011) 39 90 0 0 0.007835 0 0 SLC22A20 440044 broad.mit.edu 37 11 64985155 64985155 + RNA SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:64985155C>T ENST00000525437.1 + 0 668 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 AACTCCGTCTCCCTGGTGAGT 0.647000 11 22 0 0 0.020292 0 0 STAG3 10734 broad.mit.edu 37 7 99797259 99797259 + Missense_Mutation SNP G G C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:99797259G>C ENST00000426455.1 + 16 2076 c.1669G>C c.(1669-1671)Ggg>Cgg p.G557R STAG3_ENST00000317296.5_Missense_Mutation_p.G557R|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.G499R Q9UJ98 STAG3_HUMAN stromal antigen 3 557 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCGGGTCACTGGGAGGAAGGT 0.582000 6 13 0 0 0.003080 0 0 PREX2 80243 broad.mit.edu 37 8 68965427 68965427 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:68965427G>A ENST00000288368.4 + 9 1316 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 347 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AAAAACACCTGAAGAGAAGCA 0.388000 17 40 0 0 0.004990 0 0 SMURF2 64750 broad.mit.edu 37 17 62553739 62553739 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:62553739G>A ENST00000262435.9 - 13 1605 c.1418C>T c.(1417-1419)tCt>tTt p.S473F NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 473 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) ATTAACTGCAGAATCAGGATT 0.308000 30 60 0 0 0.009535 0 0 PDCD4 27250 broad.mit.edu 37 10 112642835 112642835 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:112642835C>T ENST00000393104.2 + 5 748 c.388C>T c.(388-390)Cct>Tct p.P130S PDCD4_ENST00000280154.7_Missense_Mutation_p.P141S NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 141 V -> G (in Ref. 2; AAB67706). apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGTGAAAGATCCTAACTATGA 0.383000 27 30 0 0 0.006320 0 0 OBSCN 84033 broad.mit.edu 37 1 228491481 228491481 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:228491481G>A ENST00000570156.2 + 52 13918 c.13844G>A c.(13843-13845)cGg>cAg p.R4615Q OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1305Q|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3658 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTGGAGTGGCGGAAGGGGTCT 0.607000 60 103 0 0 0.014410 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84872130 84872130 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:84872130C>T ENST00000262424.5 + 2 253 c.29C>T c.(28-30)cCc>cTc p.P10L CRISPLD2_ENST00000567845.1_Missense_Mutation_p.P10L|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000569090.1_Missense_Mutation_p.P10L|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.P10L NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 10 extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 GGTGTCATCCCCTTGGGGCTG 0.617000 54 88 0 0 0.014410 0 0 PUS7 54517 broad.mit.edu 37 7 105148566 105148566 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:105148566C>T ENST00000356362.2 - 2 608 c.394G>A c.(394-396)Gaa>Aaa p.E132K PUS7_ENST00000469408.1_Missense_Mutation_p.E132K NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 132 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 ATGTACCTTTCTTTTAAGATT 0.358000 12 36 0 0 0.010729 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378643 31378643 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:31378643C>T ENST00000297142.3 - 2 562 c.240G>A c.(238-240)agG>agA p.R80R NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 80 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 TCTTTTTTTTCCTAAGACCCC 0.517000 45 132 0 0 0.014410 0 0 GPR142 350383 broad.mit.edu 37 17 72368061 72368061 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:72368061G>A ENST00000335666.4 + 4 759 c.711G>A c.(709-711)ctG>ctA p.L237L NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 237 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CCAACATCCTGGAGTTTGCTG 0.657000 9 26 0 0 0.006214 0 0 ZAN 7455 broad.mit.edu 37 7 100346076 100346076 + RNA SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:100346076G>A ENST00000542585.1 + 0 1380 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGCCCTGCGGGAGGTTTCCCT 0.592000 6 12 0 0 0.001984 0 0 ACTA2 59 broad.mit.edu 37 10 90703574 90703574 + Missense_Mutation SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:90703574T>C ENST00000458208.1 - 4 823 c.349A>G c.(349-351)Aac>Gac p.N117D ACTA2_ENST00000224784.6_Missense_Mutation_p.N117D|ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 117 N -> T (in AAT6). response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) TTCTCCCGGTTGGCCTTGGGG 0.537000 25 27 0 0 0.006320 0 0 EMC4 51234 broad.mit.edu 37 15 34520784 34520784 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:34520784C>T ENST00000267750.4 + 4 626 c.510C>T c.(508-510)ccC>ccT p.P170P EMC4_ENST00000249209.4_Intron|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR NM_016454.2 NP_057538.1 ER membrane protein complex subunit 4 TCATTGAGCCCCCTGAGGTAA 0.443000 4 133 0 0 0.014758 0 0 ADCY8 114 broad.mit.edu 37 8 131812690 131812690 + Silent SNP G G A rs142352284 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:131812690G>A ENST00000286355.5 - 15 5134 c.3042C>T c.(3040-3042)atC>atT p.I1014I ADCY8_ENST00000377928.3_Silent_p.I883I NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1014 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGTCAGCAATGATCTCATTGA 0.428000 HNSCC(32;0.087) 25 76 0 0 0.021523 0 0 KIF4B 285643 broad.mit.edu 37 5 154394176 154394176 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:154394176G>A ENST00000435029.4 + 1 917 c.757G>A c.(757-759)Gaa>Aaa p.E253K NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 253 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AACCAAGGCTGAAGGGGATCG 0.428000 24 61 0 0 0.018920 0 0 C6orf118 168090 broad.mit.edu 37 6 165706919 165706919 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:165706919G>A ENST00000543069.1 - 6 1372 c.791C>T c.(790-792)tCt>tTt p.S264F C6orf118_ENST00000230301.8_Missense_Mutation_p.S368F Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 368 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TTCCTTTGCAGACTGCAGCAA 0.453000 46 72 0 0 0.014410 0 0 NUP210L 91181 broad.mit.edu 37 1 154026785 154026785 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:154026785C>T ENST00000368559.3 - 25 3473 c.3402G>A c.(3400-3402)ggG>ggA p.G1134G NUP210L_ENST00000271854.3_Silent_p.G1134G|NUP210L_ENST00000368553.1_Silent_p.G67G NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1134 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAACAATCTTCCCTGTAACTT 0.473000 31 45 0 0 0.009535 0 0 TMEM53 79639 broad.mit.edu 37 1 45120814 45120814 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:45120814G>A ENST00000372237.3 - 3 414 c.251C>T c.(250-252)cCt>cTt p.P84L TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Missense_Mutation_p.P84L|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Intron NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 84 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) ACGAAGTGAAGGGATACCCAG 0.552000 OREG0013446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 50 0 0 0.008871 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22165256 22165256 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:22165256G>A ENST00000344041.6 - 25 2355 c.2043C>T c.(2041-2043)gtC>gtT p.V681V RAPGEF5_ENST00000401957.2_Silent_p.V531V NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 531 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCAGGGTTCGGACAGTGTCTG 0.468000 35 79 0 0 0.005524 0 0 GPR179 440435 broad.mit.edu 37 17 36483885 36483885 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:36483885C>T ENST00000342292.4 - 11 5587 c.5567G>A c.(5566-5568)gGa>gAa p.G1856E GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1856 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TACGTCTTCTCCCAGGGAAGT 0.498000 45 102 0 0 0.014410 0 0 ANKFN1 162282 broad.mit.edu 37 17 54428271 54428271 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:54428271C>T ENST00000566473.2 + 4 342 c.342C>T c.(340-342)ttC>ttT p.F114F ANKFN1_ENST00000318698.2_Silent_p.F114F Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 114 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ACTCTTCCTTCGATGAGGCCT 0.448000 24 33 0 0 0.005443 0 0 ACTN2 88 broad.mit.edu 37 1 236902833 236902833 + Splice_Site SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:236902833G>A ENST00000366578.4 + 10 1273 c.e10+1 ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Splice_Site|ACTN2_ENST00000492634.1_Splice_Site NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GATGGTGTCGGTGAGTAGCAA 0.582000 10 37 0 0 0.006214 0 0 IL7R 3575 broad.mit.edu 37 5 35876446 35876446 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:35876446G>A ENST00000303115.3 + 8 1367 c.1238G>A c.(1237-1239)aGc>aAc p.S413N IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 413 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ACTACAAACAGCACGCTGCCC 0.522000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 16 34 0 0 0.003163 0 0 PPP2R3B 28227 broad.mit.edu 37 X 299624 299624 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:299624G>A ENST00000390665.3 - 11 1377 c.1359C>T c.(1357-1359)atC>atT p.I453I NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 453 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCTGCAGCGTGATCTTCCCTG 0.607000 38 52 0 0 0.006999 0 0 VPS13C 54832 broad.mit.edu 37 15 62207918 62207918 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:62207918C>T ENST00000261517.5 - 61 8432 c.8359G>A c.(8359-8361)Gaa>Aaa p.E2787K VPS13C_ENST00000395898.3_Missense_Mutation_p.E2744K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2787K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2744K NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2787 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGAATATCTTCTGAACGATAC 0.393000 13 41 0 0 0.016723 0 0 CDH8 1006 broad.mit.edu 37 16 61851459 61851459 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:61851459G>A ENST00000577390.1 - 7 2155 c.1201C>T c.(1201-1203)Cat>Tat p.H401Y CDH8_ENST00000584337.1_Missense_Mutation_p.H401Y|CDH8_ENST00000577730.1_Missense_Mutation_p.H401Y|CDH8_ENST00000299345.6_Missense_Mutation_p.H401Y NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 401 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCATTTTCATGAACTTCAAGT 0.453000 18 42 0 0 0.007413 0 0 ZNF165 7718 broad.mit.edu 37 6 28057240 28057240 + Missense_Mutation SNP T T A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:28057240T>A ENST00000377325.1 + 4 2006 c.1450T>A c.(1450-1452)Tta>Ata p.L484I NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 484 viral reproduction 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(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGAAAACCTATTAATGTAAGG 0.353000 15 29 0 0 0.003163 0 0 CHP2 63928 broad.mit.edu 37 16 23768523 23768523 + Splice_Site SNP T T C TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:23768523T>C ENST00000300113.2 + 6 839 c.414_splice c.e6-1 p.V139_splice NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 139 EF-hand 3. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) ATCTCTCAGGTTCTCCGTCTG 0.557000 14 44 0 0 0.003163 0 0 NDRG4 65009 broad.mit.edu 37 16 58538174 58538174 + Nonsense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr16:58538174C>T ENST00000394282.4 + 5 807 c.400C>T c.(400-402)Cag>Tag p.Q134* NDRG4_ENST00000566192.1_Nonsense_Mutation_p.Q82*|NDRG4_ENST00000570248.1_Nonsense_Mutation_p.Q82*|NDRG4_ENST00000562999.1_Nonsense_Mutation_p.Q82*|NDRG4_ENST00000568640.1_Nonsense_Mutation_p.Q100*|NDRG4_ENST00000258187.5_Nonsense_Mutation_p.Q114*|NDRG4_ENST00000569923.1_Nonsense_Mutation_p.Q27*|NDRG4_ENST00000394279.2_Nonsense_Mutation_p.Q114*|NDRG4_ENST00000563799.1_Nonsense_Mutation_p.Q100*|NDRG4_ENST00000356752.4_Nonsense_Mutation_p.Q112* NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 82 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 GCAGTTTCCTCAGGGGTAGGT 0.612000 42 88 0 0 0.008740 0 0 AMPH 273 broad.mit.edu 37 7 38433666 38433666 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr7:38433666G>A ENST00000356264.2 - 18 1762 c.1547C>T c.(1546-1548)aCc>aTc p.T516I AMPH_ENST00000325590.5_Missense_Mutation_p.T474I|AMPH_ENST00000428293.2_Missense_Mutation_p.T474I|AMPH_ENST00000471913.1_5'UTR NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 516 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 ACCCTCAGTGGTTTCAGTTCC 0.602000 36 121 0 0 0.021022 0 0 OLFML3 56944 broad.mit.edu 37 1 114524269 114524269 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:114524269C>T ENST00000369551.1 + 4 1327 c.1039C>T c.(1039-1041)Cgc>Tgc p.R347C OLFML3_ENST00000320334.4_Missense_Mutation_p.R367C|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.R347C Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 367 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTATTTTCCCCGCAGATATGG 0.587000 15 44 0 0 0.004007 0 0 GPR98 84059 broad.mit.edu 37 5 89925204 89925204 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:89925204G>A ENST00000405460.2 + 9 1783 c.1687G>A c.(1687-1689)Gga>Aga p.G563R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 563 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CATTCCTGCTGGAGCTGTGGA 0.403000 16 36 0 0 0.004990 0 0 TINAG 27283 broad.mit.edu 37 6 54173504 54173504 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:54173504C>T ENST00000259782.4 + 1 252 c.156C>T c.(154-156)ttC>ttT p.F52F TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Silent_p.F34F|TINAG_ENST00000370869.3_Silent_p.F48F NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 52 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity p.F52F(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GAGCCATTTTCCAAGGGCAAT 0.423000 47 93 0 0 0.014410 0 0 FADS6 283985 broad.mit.edu 37 17 72877225 72877225 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr17:72877225G>A ENST00000310226.6 - 4 713 c.699C>T c.(697-699)caC>caT p.H233H NM_178128.3 NP_835229.2 Q8N9I5 FADS6_HUMAN fatty acid desaturase 6 239 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) GGAGGTAGGGGTGGGCCAACA 0.607000 18 17 0 0 0.008871 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433185 140433185 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:140433185C>T ENST00000306549.3 + 1 2207 c.2130C>T c.(2128-2130)ttC>ttT p.F710F NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 710 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGTGATCTTCATTATACATG 0.348000 23 67 0 0 0.012319 0 0 TTN 7273 broad.mit.edu 37 2 179408103 179408103 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:179408103G>A ENST00000589042.1 - 347 96821 c.96597C>T c.(96595-96597)gtC>gtT p.V32199V TTN_ENST00000460472.2_Silent_p.V23134V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V23326V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V23259V|TTN_ENST00000342992.6_Silent_p.V29631V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V30558V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30558 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACTTCTGAGACCAGTACTG 0.458000 11 37 0 0 0.008291 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215759 20215759 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr14:20215759C>T ENST00000331723.1 + 1 173 c.173C>T c.(172-174)tCt>tTt p.S58F NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGCTCCAATCTCCTATGTAT 0.408000 42 307 0 0 0.011902 0 0 CDH17 1015 broad.mit.edu 37 8 95158288 95158288 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:95158288G>A ENST00000027335.3 - 15 2159 c.2035C>T c.(2035-2037)Ccc>Tcc p.P679S CDH17_ENST00000441892.2_Missense_Mutation_p.P465S|CDH17_ENST00000450165.2_Missense_Mutation_p.P679S NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 679 Cadherin 7. integral to membrane calcium ion binding p.P679T(1) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GCACTGAGGGGATGGCAGAAG 0.502000 11 36 0 0 0.008291 0 0 MXRA5 25878 broad.mit.edu 37 X 3241875 3241875 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:3241875C>T ENST00000217939.6 - 5 2005 c.1851G>A c.(1849-1851)agG>agA p.R617R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 617 Ig-like C2-type 2. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CATTAATTATCCTTCTGTTTG 0.443000 17 20 0 0 0.006122 0 0 TCHH 7062 broad.mit.edu 37 1 152085305 152085305 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr1:152085305C>T ENST00000368804.1 - 2 387 c.388G>A c.(388-390)Gaa>Aaa p.E130K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 130 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGTTCTTCTTCCAGTTGTCTG 0.552000 78 236 0 0 0.014410 0 0 NLRP12 91662 broad.mit.edu 37 19 54327215 54327215 + Silent SNP A A G TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:54327215A>G ENST00000324134.6 - 1 382 c.214T>C c.(214-216)Ttg>Ctg p.L72L NLRP12_ENST00000391772.1_Silent_p.L72L|NLRP12_ENST00000391775.3_Silent_p.L72L|NLRP12_ENST00000535162.1_Silent_p.L72L|NLRP12_ENST00000351894.4_Silent_p.L72L|NLRP12_ENST00000391773.1_Silent_p.L72L|NLRP12_ENST00000345770.5_Silent_p.L72L|NLRP12_ENST00000354278.3_Silent_p.L72L NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 72 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTGAGAGCCAACCTCCAGGCC 0.617000 54 100 0 0 0.014410 0 0 PARD3 56288 broad.mit.edu 37 10 34688294 34688294 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr10:34688294C>T ENST00000374789.3 - 7 1179 c.854G>A c.(853-855)gGa>gAa p.G285E PARD3_ENST00000346874.4_Missense_Mutation_p.G285E|PARD3_ENST00000340077.5_Missense_Mutation_p.G285E|PARD3_ENST00000374773.1_Missense_Mutation_p.G285E|PARD3_ENST00000374776.1_Missense_Mutation_p.G285E|PARD3_ENST00000545693.1_Missense_Mutation_p.G285E|PARD3_ENST00000545260.1_Missense_Mutation_p.G241E|PARD3_ENST00000350537.4_Missense_Mutation_p.G285E|PARD3_ENST00000374790.3_Missense_Mutation_p.G241E|PARD3_ENST00000544292.1_Missense_Mutation_p.G15E|PARD3_ENST00000374794.3_Missense_Mutation_p.G241E|PARD3_ENST00000374788.3_Missense_Mutation_p.G285E NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 285 PDZ 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TACGTGGATTCCCAGAGGCCC 0.438000 37 93 0 0 0.013114 0 0 FAM83C 128876 broad.mit.edu 37 20 33875226 33875226 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:33875226G>A ENST00000374408.3 - 4 1452 c.1356C>T c.(1354-1356)ctC>ctT p.L452L NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 452 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GGAACTGGAGGAGGGGCCGGG 0.642000 20 24 0 0 0.012319 0 0 THEMIS 387357 broad.mit.edu 37 6 128134112 128134112 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:128134112C>T ENST00000368250.1 - 5 1935 c.1437G>A c.(1435-1437)ccG>ccA p.P479P THEMIS_ENST00000368248.2_Silent_p.P558P|THEMIS_ENST00000537166.1_Silent_p.P523P|THEMIS_ENST00000543064.1_Silent_p.P558P Q8N1K5 THMS1_HUMAN thymocyte selection associated 558 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AGGGGTGTTTCGGAGGGCGAG 0.483000 41 36 0 0 0.006999 0 0 DOPEY2 9980 broad.mit.edu 37 21 37571508 37571508 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr21:37571508C>T ENST00000399151.3 + 3 364 c.279C>T c.(277-279)atC>atT p.I93I DOPEY2_ENST00000492760.1_Intron NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 93 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCTTTAAAATCGTGGGGACCA 0.473000 22 66 0 0 0.016522 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744139 70744139 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr8:70744139C>T ENST00000260126.3 - 2 1476 c.770G>A c.(769-771)gGa>gAa p.G257E SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G257E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G257E NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 257 integral to membrane|plasma membrane transporter activity p.G257E(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GTGATTATTTCCTCCCGAGTC 0.547000 20 39 0 0 0.014323 0 0 MICAL3 57553 broad.mit.edu 37 22 18354649 18354649 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:18354649G>A ENST00000441493.2 - 17 2734 c.2382C>T c.(2380-2382)tgC>tgT p.C794C MICAL3_ENST00000444520.1_Silent_p.C794C|MICAL3_ENST00000585038.1_Silent_p.C918C|MICAL3_ENST00000383094.3_Silent_p.C794C|MICAL3_ENST00000429452.1_Silent_p.C918C|MICAL3_ENST00000400561.2_Silent_p.C794C|MICAL3_ENST00000414725.2_Silent_p.C822C|MICAL3_ENST00000207726.7_Silent_p.C822C NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 794 LIM zinc-binding. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGGTGGTGGCGCAGTACTCGC 0.607000 4 9 0 0 0.001168 0 0 DHX36 170506 broad.mit.edu 37 3 154042118 154042118 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:154042118G>A ENST00000496811.1 - 1 168 c.88C>T c.(88-90)Cat>Tat p.H30Y DHX36_ENST00000329463.5_Missense_Mutation_p.H30Y|DHX36_ENST00000308361.6_Missense_Mutation_p.H30Y|DHX36_ENST00000544526.1_Missense_Mutation_p.H30Y NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 30 Gly-rich. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTACCTCCATGACCCCCTGCT 0.697000 10 17 0 0 0.008291 0 0 IQCJ 654502 broad.mit.edu 37 3 158983100 158983100 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr3:158983100C>T ENST00000482126.1 + 4 412 c.307C>T c.(307-309)Ctc>Ttc p.L103F IQCJ_ENST00000451172.1_Missense_Mutation_p.L130F|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron NM_001197100.1 NP_001184029.1 IQ motif containing J p.L130V(1) cervix(1)|endometrium(2)|large_intestine(2)|lung(10) 15 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) GGTGATTCTTCTCTACCTTGA 0.512000 29 84 0 0 0.008361 0 0 GRK4 2868 broad.mit.edu 37 4 3031062 3031062 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr4:3031062G>A ENST00000398052.4 + 12 1538 c.1195G>A c.(1195-1197)Gat>Aat p.D399N GRK4_ENST00000504933.1_Missense_Mutation_p.D399N|GRK4_ENST00000345167.6_Missense_Mutation_p.D367N|GRK4_ENST00000398051.4_Missense_Mutation_p.D367N|GRK4_ENST00000509545.1_3'UTR NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 399 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGAGGAGGTCGATCAAAGAAT 0.438000 14 30 0 0 0.003163 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166750 180166750 + Silent SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:180166750G>A ENST00000307832.2 - 1 349 c.309C>T c.(307-309)atC>atT p.I103I NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGCTAGGTAGATGAAGAGCT 0.602000 12 29 0 0 0.013537 0 0 TMEM132A 54972 broad.mit.edu 37 11 60703610 60703610 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:60703610C>T ENST00000005286.4 + 11 2459 c.2306C>T c.(2305-2307)cCt>cTt p.P769L TMEM132A_ENST00000453848.2_Missense_Mutation_p.P768L NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 768 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GGGCTGCCCCCTGCCTCCACT 0.721000 14 22 0 0 0.020292 0 0 JAG1 182 broad.mit.edu 37 20 10621857 10621857 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr20:10621857C>T ENST00000254958.5 - 24 3467 c.2952G>A c.(2950-2952)agG>agA p.R984R JAG1_ENST00000423891.2_Silent_p.R825R NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 984 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TATTCAAATTCCTCAATTCAC 0.393000 Alagille Syndrome 17 53 0 0 0.004007 0 0 SV2C 22987 broad.mit.edu 37 5 75427754 75427754 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr5:75427754C>T ENST00000502798.2 + 2 621 c.179C>T c.(178-180)cCg>cTg p.P60L SV2C_ENST00000322285.7_Missense_Mutation_p.P60L NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 60 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.P60Q(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GACTACTACCCGGCTGGAGAA 0.493000 23 43 0 0 0.018920 0 0 LRFN2 57497 broad.mit.edu 37 6 40400344 40400344 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:40400344C>T ENST00000338305.6 - 2 1051 c.509G>A c.(508-510)cGa>cAa p.R170Q NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 170 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GACCATGCGTCGCACGGAGTC 0.602000 19 79 0 0 0.010504 0 0 CYP11A1 1583 broad.mit.edu 37 15 74635368 74635368 + Missense_Mutation SNP C C T rs6161 byFrequency TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:74635368C>T ENST00000358632.4 - 5 1161 c.466G>A c.(466-468)Gag>Aag p.E156K CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Missense_Mutation_p.E314K|CYP11A1_ENST00000419019.2_Missense_Mutation_p.E156K NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 314 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding p.E314K(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TTGATGTCCTCGAAGGACATC 0.577000 34 118 0 0 0.019004 0 0 APOB 338 broad.mit.edu 37 2 21252650 21252650 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:21252650C>T ENST00000233242.1 - 12 1605 c.1478G>A c.(1477-1479)gGa>gAa p.G493E APOB_ENST00000399256.4_Missense_Mutation_p.G493E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 493 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCCCATATTTCCAATGACCTG 0.428000 165 441 0 0 0.014410 0 0 ATP8B4 79895 broad.mit.edu 37 15 50254215 50254215 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr15:50254215C>T ENST00000284509.6 - 14 1387 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K ATP8B4_ENST00000559829.1_Missense_Mutation_p.E416K NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 416 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) TCATGTACTTCACCTGACAAA 0.269000 8 19 0 0 0.006214 0 0 TBC1D17 79735 broad.mit.edu 37 19 50390828 50390828 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr19:50390828G>A ENST00000221543.5 + 14 1839 c.1540G>A c.(1540-1542)Gag>Aag p.E514K TBC1D17_ENST00000535102.2_Missense_Mutation_p.E481K NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 514 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TCGGCTGTGGGAGGTGGGCCA 0.647000 13 28 0 0 0.020292 0 0 APLNR 187 broad.mit.edu 37 11 57004345 57004345 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr11:57004345C>T ENST00000606794.1 - 1 330 c.134G>A c.(133-135)gGc>gAc p.G45D NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 45 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CAGACCGTTGCCCGTGGTGCC 0.597000 19 73 0 0 0.010504 0 0 AC068490.2 0 broad.mit.edu 37 2 22412519 22412519 + RNA DEL A A - TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr2:22412519delA ENST00000450551.1 - 0 200 CAGATCAATTAATTGCAGAAT 0.393 4 3 --- --- --- --- HIST1H2AA 221613 broad.mit.edu 37 6 25726526 25726527 + Frame_Shift_Ins INS - - T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr6:25726526_25726527insT ENST00000297012.3 - 1 263_264 c.229_230insA c.(229-231)tcgfs p.S77fs NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 77 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 AATAATGCGAGTTTTTTTGTTA 0.545 26 113 --- --- --- --- DGCR5 26220 broad.mit.edu 37 22 18976301 18976324 + RNA DEL TATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTATTTATT - rs139950802 TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT ENST00000438934.1 + 0 394 DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA TGGCTGGACAtatttatttatttatttatttatttatttattta 0.411 2 4 --- --- --- --- CA5BP1 340591 broad.mit.edu 37 X 15715615 15715616 + RNA DEL CT CT - TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49f063c5-bd61-4143-898f-891f9d9bc429 c3feacc2-5a26-4bb2-a312-8b2ee53ccad1 g.chrX:15715615_15715616delCT ENST00000380334.2 + 0 321 CCTGGAGCTCCTCTGGACCACT 0.460 2 4 --- --- --- ---