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 ULK1 8408 broad.mit.edu 37 12 132393503 132393503 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:132393503C>T ENST00000321867.4 + 7 902 c.551C>T c.(550-552)tCc>tTc p.S184F NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 184 Protein kinase. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CTCTGCGGCTCCCCCATGTAC 0.672000 26 102 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101307046 101307046 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:101307046C>T ENST00000369143.2 - 4 565 c.274G>A c.(274-276)Gat>Aat p.D92N ASCC3_ENST00000522650.1_Intron|ASCC3_ENST00000369162.2_Intron NM_022091.3 NP_071374.1 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) tcttttccatccagcctcctc 0.408000 24 60 0 0 1 0 0 UBE2M 9040 broad.mit.edu 37 19 59067742 59067742 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:59067742C>T ENST00000253023.3 - 5 930 c.352G>A c.(352-354)Gac>Aac p.D118N NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 118 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GGCTTCCAGTCCTCTCTGTGG 0.542000 9 44 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64085134 64085134 + Silent SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:64085134G>T ENST00000295902.6 - 8 2713 c.2128C>A c.(2128-2130)Cgg>Agg p.R710R PRICKLE2_ENST00000564377.1_Silent_p.R766R|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 710 Arg-rich. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TCTTTTAACCGGGAGATGGCC 0.637000 19 64 2.37509e-13 2.74473e-13 1 1 0 TLDC1 57707 broad.mit.edu 37 16 84529448 84529448 + Silent SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:84529448C>G ENST00000343629.6 - 3 407 c.225G>C c.(223-225)ctG>ctC p.L75L RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_Silent_p.L48L NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 CCTTCCCTGTCAGGTCGACCC 0.562000 30 55 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94120867 94120867 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:94120867C>G ENST00000369303.4 - 3 368 c.184G>C c.(184-186)Gat>Cat p.D62H EPHA7_ENST00000369297.1_Missense_Mutation_p.D62H NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 62 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TAGTTCTCATCCAAACCACTA 0.403000 13 101 0 0 1 0 0 ZNF430 80264 broad.mit.edu 37 19 21240151 21240151 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:21240151A>T ENST00000261560.5 + 5 1218 c.1037A>T c.(1036-1038)aAa>aTa p.K346I NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 AAACCCTACAAATGTGAAGAA 0.403000 41 127 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70980726 70980726 + Nonsense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr8:70980726G>A ENST00000276594.2 - 3 943 c.742C>T c.(742-744)Caa>Taa p.Q248* NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TCTGGAAGTTGAAGGGAGTCT 0.408000 22 74 0 0 1 0 0 NELFE 7936 broad.mit.edu 37 6 31922531 31922531 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:31922531G>A ENST00000375429.3 - 7 769 c.543C>T c.(541-543)tcC>tcT p.S181S NELFE_ENST00000444811.2_Silent_p.S151S|NELFE_ENST00000375425.5_Silent_p.S188S NM_002904.5 NP_002895.3 negative elongation factor complex member E TTCGGGGAGGGGAGGCTGAGG 0.647000 23 76 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 14 80 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143853480 143853480 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr5:143853480G>A ENST00000507359.2 + 3 2181 c.1090G>A c.(1090-1092)Gac>Aac p.D364N KCTD16_ENST00000512467.1_Missense_Mutation_p.D364N NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 364 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity p.D364Y(1) large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GCGGAAAAGCGACTTACTCCG 0.522000 30 59 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058303 11058303 + RNA SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr21:11058303G>T ENST00000470054.1 - 0 344 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGCTCCAAAGTGCTTACAAA 0.388000 11 343 0.00010058 0.000105413 1 1 0 FAT1 2195 broad.mit.edu 37 4 187628173 187628173 + Nonsense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:187628173G>A ENST00000441802.2 - 2 3018 c.2809C>T c.(2809-2811)Cga>Tga p.R937* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 937 Cadherin 8. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGATCCTCTCGGACTTTCACA 0.468000 HNSCC(5;0.00058) 44 307 0 0 1 0 0 STARD3 10948 broad.mit.edu 37 17 37816726 37816726 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:37816726A>T ENST00000336308.5 + 11 1119 c.901A>T c.(901-903)Atc>Ttc p.I301F STARD3_ENST00000544210.2_Missense_Mutation_p.I301F|STARD3_ENST00000580611.1_Missense_Mutation_p.I275F|STARD3_ENST00000394250.4_Missense_Mutation_p.I283F NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 301 START. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCAGGAGGTGATCCTGCAGCC 0.647000 19 49 0 0 1 0 0 PPP1R2 5504 broad.mit.edu 37 3 195245854 195245854 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:195245854C>T ENST00000328432.3 - 5 892 c.532G>A c.(532-534)Gca>Aca p.A178T NM_006241.4 NP_006232.1 P41236 IPP2_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 2 178 glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2) 6 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) TCTCCATCTGCAGTCTCTAAC 0.363000 56 179 0 0 1 0 0 BRSK2 9024 broad.mit.edu 37 11 1475730 1475730 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:1475730C>T ENST00000308219.9 + 16 1946 c.1560C>T c.(1558-1560)tcC>tcT p.S520S BRSK2_ENST00000382179.1_Silent_p.S566S|BRSK2_ENST00000544817.1_Silent_p.S215S|BRSK2_ENST00000531197.1_Silent_p.S520S|BRSK2_ENST00000308230.5_Silent_p.S542S|BRSK2_ENST00000526678.1_Silent_p.S542S|BRSK2_ENST00000528841.1_Silent_p.S520S|BRSK2_ENST00000528710.1_Silent_p.S460S NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 520 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) CGAAGAAGTCCTGGTTTGGGA 0.577000 9 39 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141795424 141795424 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:141795424G>C ENST00000475668.2 + 64 7572 c.7518G>C c.(7516-7518)caG>caC p.Q2506H MGAM_ENST00000549489.2_Missense_Mutation_p.Q1610H O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1610 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGTCCTGCAGACCAGATACA 0.507000 45 133 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220473437 220473437 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:220473437G>T ENST00000456909.1 + 15 1826 c.1736G>T c.(1735-1737)cGa>cTa p.R579L STK11IP_ENST00000295641.10_Missense_Mutation_p.R590L Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 590 Glu-rich. protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCTTGGAGCGACTGGAGCTC 0.657000 12 25 3.07112e-06 3.28779e-06 1 1 0 OR5D14 219436 broad.mit.edu 37 11 55563209 55563209 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:55563209C>A ENST00000335605.1 + 1 178 c.178C>A c.(178-180)Cct>Act p.P60T NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P60T(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) ATTTCACACTCCTATGTACTT 0.383000 8 144 1.12685e-05 1.199e-05 1 1 0 GPR50 9248 broad.mit.edu 37 X 150349599 150349599 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:150349599C>T ENST00000218316.3 + 2 1613 c.1544C>T c.(1543-1545)cCc>cTc p.P515L NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 515 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CATGCTGAGCCCACCACTGCT 0.612000 51 55 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184049859 184049859 + Missense_Mutation SNP T T G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:184049859T>G ENST00000342981.4 + 31 5020 c.4606T>G c.(4606-4608)Tta>Gta p.L1536V EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1535V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1495V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1542V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1372V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1339V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1542V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1535V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1448V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1449V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1340V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1371V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1542V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1496V NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1535 EIF4A-binding.|W2. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGTAGTGACCTTAGAACAGCC 0.582000 17 85 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1418713 1418713 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:1418713C>T ENST00000336761.6 + 4 491 c.286C>T c.(286-288)Cgg>Tgg p.R96W DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Missense_Mutation_p.R96W NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 96 RRM 1. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGAGAACACGGCCGAAGGA 0.567000 4 121 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72073070 72073070 + Splice_Site SNP A A C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr9:72073070A>C ENST00000265381.4 - 6 1738 c.e6+1 APBA1_ENST00000470082.1_Intron NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TTTGTACTGCACCTTCTTCCT 0.383000 64 61 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234153 21234153 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:21234153C>G ENST00000233242.1 - 26 5714 c.5587G>C c.(5587-5589)Gag>Cag p.E1863Q NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1863 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) TGGCTAAACTCCACACCCTGA 0.438000 41 107 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57584756 57584756 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:57584756G>C ENST00000243077.3 + 43 7666 c.7200G>C c.(7198-7200)aaG>aaC p.K2400N NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2400 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCTGGACAAGATCGAGCGGT 0.642000 12 34 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128441260 128441260 + Nonsense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:128441260G>T ENST00000297788.4 + 4 734 c.367G>T c.(367-369)Gag>Tag p.E123* CCDC136_ENST00000464832.1_Nonsense_Mutation_p.E173*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.E123*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.E173* NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 123 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 TTCTCTACGGGAGGAGATTTC 0.473000 17 29 0.00074312 0.000771872 1 1 0 TOMM70A 9868 broad.mit.edu 37 3 100093991 100093991 + Silent SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:100093991T>A ENST00000284320.5 - 7 1546 c.1098A>T c.(1096-1098)cgA>cgT p.R366R NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 366 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 GAGCATTTGCTCGAAGCTATA 0.398000 36 185 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32849516 32849516 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:32849516G>A ENST00000341071.7 - 4 334 c.323C>T c.(322-324)cCt>cTt p.P108L BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000413080.1_Missense_Mutation_p.P91L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P91L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P108L|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000455895.2_Missense_Mutation_p.P91L Q9NW68 BSDC1_HUMAN BSD domain containing 1 91 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GTCTGGCGAAGGGGCAAAGGT 0.527000 30 77 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63921014 63921014 + Splice_Site SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:63921014G>T ENST00000443617.2 - 70 13054 c.12966_splice c.e70-1 p.L4323_splice NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4323 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CCTAAGCCGAGCTGGGAATAA 0.438000 21 86 1.10513e-12 1.26456e-12 1 1 0 OR8B4 283162 broad.mit.edu 37 11 124294407 124294407 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:124294407G>A ENST00000356130.3 - 1 382 c.361C>T c.(361-363)Cgc>Tgc p.R121C NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GCCACATAGCGATCATAGGCC 0.453000 37 65 0 0 1 0 0 ETNPPL 64850 broad.mit.edu 37 4 109669202 109669202 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:109669202C>T ENST00000296486.3 - 9 1195 c.1041G>A c.(1039-1041)ctG>ctA p.L347L ETNPPL_ENST00000510706.1_Silent_p.L307L|ETNPPL_ENST00000512646.1_Silent_p.L289L|ETNPPL_ENST00000411864.2_Silent_p.L341L NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase TCTGTTTTTTCAGTAACTCAG 0.333000 20 70 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79434693 79434693 + Silent SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:79434693G>C ENST00000264895.6 + 65 10601 c.10161G>C c.(10159-10161)ctG>ctC p.L3387L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3382 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCTATGACCTGAGAGGCATCT 0.468000 40 130 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158604344 158604344 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:158604344C>A ENST00000368148.3 - 39 5734 c.5554G>T c.(5554-5556)Gct>Tct p.A1852S SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A1852S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1852 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGAGTAGCAGCTAATGTATCT 0.393000 33 150 4.14481e-20 4.97092e-20 1 1 0 VPS13C 54832 broad.mit.edu 37 15 62182551 62182551 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:62182551C>G ENST00000261517.5 - 67 9227 c.9154G>C c.(9154-9156)Gta>Cta p.V3052L VPS13C_ENST00000395898.3_Missense_Mutation_p.V3009L|VPS13C_ENST00000395896.4_Missense_Mutation_p.V3052L|VPS13C_ENST00000249837.3_Missense_Mutation_p.V3009L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3052 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 AGAAATGATACCCAGTGTATC 0.423000 26 47 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516046 140516046 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr5:140516046C>G ENST00000231134.5 + 1 1247 c.1030C>G c.(1030-1032)Cct>Gct p.P344A NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 344 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGACAACGCCCCTGAACTCAC 0.498000 6 153 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366892 7366892 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:7366892G>C ENST00000311403.4 - 4 1748 c.1409C>G c.(1408-1410)tCt>tGt p.S470C ZBTB4_ENST00000380599.4_Missense_Mutation_p.S470C NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 470 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) AGTGATGACAGAGGGTGGAGG 0.672000 19 25 0 0 1 0 0 VPS8 23355 broad.mit.edu 37 3 184648306 184648306 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:184648306A>T ENST00000287546.4 + 33 3019 c.2848A>T c.(2848-2850)Agt>Tgt p.S950C VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000436792.2_Missense_Mutation_p.S948C|VPS8_ENST00000446204.2_Missense_Mutation_p.S858C|VPS8_ENST00000437079.3_Missense_Mutation_p.S950C NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 950 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TCCCGGACACAGTGCAGAGGA 0.388000 7 144 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28573738 28573738 + Silent SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr8:28573738G>T ENST00000220562.4 + 3 1064 c.162G>T c.(160-162)ctG>ctT p.L54L EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 54 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TCACCACTCTGGATGAGGCTG 0.602000 6 72 3.59834e-05 3.80551e-05 1 1 0 CA1 759 broad.mit.edu 37 8 86240821 86240821 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr8:86240821G>A ENST00000523953.1 - 9 1800 c.754C>T c.(754-756)Ctg>Ttg p.L252L CA1_ENST00000522389.1_Silent_p.L118L|CA1_ENST00000432364.2_Silent_p.L252L|CA1_ENST00000431316.1_Silent_p.L252L|CA1_ENST00000523022.1_Silent_p.L252L|CA1_ENST00000256119.5_Silent_p.L252L|CA1_ENST00000542576.1_Silent_p.L252L P00915 CAH1_HUMAN carbonic anhydrase I 252 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) CTGCCCTTCAGAGGTTGGGTT 0.448000 31 110 0 0 1 0 0 MXRA8 54587 broad.mit.edu 37 1 1290669 1290669 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:1290669G>C ENST00000309212.6 - 4 463 c.433C>G c.(433-435)Cac>Gac p.H145D MXRA8_ENST00000445648.2_Missense_Mutation_p.H145D|MXRA8_ENST00000342753.4_Missense_Mutation_p.H44D NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 145 Ig-like V-type 1. integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCGTAGAGGTGGCAGTAGTGA 0.726000 5 33 0 0 1 0 0 ERMN 57471 broad.mit.edu 37 2 158177960 158177960 + Silent SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:158177960G>T ENST00000410096.1 - 3 969 c.678C>A c.(676-678)tcC>tcA p.S226S ERMN_ENST00000420719.2_Silent_p.S206S|ERMN_ENST00000397283.2_Silent_p.S239S|ERMN_ENST00000535935.1_Silent_p.S120S NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 226 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 TGCTCAGTGGGGAGTCCTCAC 0.408000 46 182 6.31075e-24 7.70088e-24 1 1 0 KCNG1 3755 broad.mit.edu 37 20 49620923 49620923 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr20:49620923C>T ENST00000371571.4 - 3 1480 c.1195G>A c.(1195-1197)Gag>Aag p.E399K RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 399 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 ATCTCGTTCTCGATGACGTAG 0.667000 16 48 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90605716 90605716 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:90605716T>C ENST00000369352.1 + 1 1529 c.1529T>C c.(1528-1530)gTg>gCg p.V510A NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 510 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) CTTCCTGGGGTGTGTATGTAT 0.393000 5 54 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122528858 122528858 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:122528858G>A ENST00000264357.5 + 6 1082 c.790G>A c.(790-792)Gga>Aga p.G264R GRIA3_ENST00000541091.1_Missense_Mutation_p.G248R|GRIA3_ENST00000371256.5_Missense_Mutation_p.G264R|GRIA3_ENST00000371251.1_Missense_Mutation_p.G264R|GRIA3_ENST00000542149.1_Missense_Mutation_p.G264R NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 264 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) CATGCATGGGGGAGCCAACAT 0.428000 50 49 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726351 63726351 + Silent SNP A A C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:63726351A>C ENST00000421025.1 + 5 609 c.340A>C c.(340-342)Aga>Cga p.R114R ZNF679_ENST00000255746.4_Silent_p.R114R NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 114 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 AATACCAAGAAGATATGGAAA 0.368000 12 45 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12358916 12358916 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr18:12358916G>A ENST00000269143.3 - 8 1010 c.779C>T c.(778-780)aCg>aTg p.T260M NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 260 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) GATGAGCACCGTAGGCAGCAT 0.572000 7 25 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 7 254 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31138152 31138152 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:31138152C>G ENST00000538351.1 - 7 1789 c.1035G>C c.(1033-1035)ttG>ttC p.L345F ZNF438_ENST00000331737.6_Missense_Mutation_p.L384F|ZNF438_ENST00000436087.2_Missense_Mutation_p.L394F|ZNF438_ENST00000442986.1_Missense_Mutation_p.L394F|ZNF438_ENST00000452305.1_Missense_Mutation_p.L384F|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Missense_Mutation_p.L394F|ZNF438_ENST00000413025.1_Missense_Mutation_p.L394F|ZNF438_ENST00000444692.2_Missense_Mutation_p.L384F NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) CCTGAAATGCCAAAATTTCAT 0.373000 30 122 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179431719 179431719 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:179431719C>G ENST00000589042.1 - 326 79364 c.79140G>C c.(79138-79140)atG>atC p.M26380I TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M24739I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M17315I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M17440I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M23812I|TTN_ENST00000342175.6_Missense_Mutation_p.M17507I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24739 Ig-like 127. 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) ATGGATTTTTCATTAGTACTG 0.408000 66 171 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21594894 21594894 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:21594894C>T ENST00000298925.5 + 20 2558 c.2405C>T c.(2404-2406)tCa>tTa p.S802L NELL1_ENST00000325319.5_Missense_Mutation_p.S717L|NELL1_ENST00000357134.5_Missense_Mutation_p.S774L|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.S727L Q92832 NELL1_HUMAN NEL-like 1 (chicken) 774 VWFC 5. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TATGGTGTTTCACGGCTTAGT 0.483000 18 165 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28544279 28544279 + Silent SNP G G A rs76377611 TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:28544279G>A ENST00000401766.2 - 5 1254 c.742C>T c.(742-744)Ctg>Ttg p.L248L SLC6A4_ENST00000261707.3_Silent_p.L248L P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 248 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) ATGCCCCCCAGGTCCTGGAGC 0.587000 33 86 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179259114 179259114 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:179259114G>C ENST00000190611.4 + 24 3024 c.2648G>C c.(2647-2649)aGa>aCa p.R883T OSBPL6_ENST00000392505.2_Missense_Mutation_p.R908T|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R887T|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R847T|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R847T|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R852T NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 883 lipid transport lipid binding p.R908I(1)|p.R883I(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AGATCTCGGAGACGATATATG 0.358000 36 148 0 0 1 0 0 CES1P1 51716 broad.mit.edu 37 16 55794562 55794562 + RNA SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:55794562C>G ENST00000571348.1 + 0 52 NR_003276.2 GGATGTGGCTCCCTGCTCTTG 0.632000 7 16 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48312992 48312992 + Silent SNP T T G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:48312992T>G ENST00000435803.1 + 17 3753 c.3729T>G c.(3727-3729)gtT>gtG p.V1243V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1243 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATGCATTAGTTTCAGTAAAAA 0.373000 21 40 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51218960 51218960 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:51218960G>T ENST00000293441.1 - 3 505 c.487C>A c.(487-489)Cag>Aag p.Q163K SHANK1_ENST00000391814.1_Missense_Mutation_p.Q163K|SHANK1_ENST00000359082.3_Missense_Mutation_p.Q163K NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 163 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGGTTGGTCTGTTTGTAAACT 0.552000 41 147 5.78141e-17 6.83971e-17 1 1 0 MUC17 140453 broad.mit.edu 37 7 100676292 100676292 + Nonsense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:100676292C>A ENST00000306151.4 + 3 1659 c.1595C>A c.(1594-1596)tCa>tAa p.S532* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 532 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGCACCCTTTCAACAACTCCT 0.498000 187 608 5.64929e-65 7.06667e-65 1 1 0 SNX30 401548 broad.mit.edu 37 9 115598518 115598518 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr9:115598518G>A ENST00000374232.3 + 5 807 c.643G>A c.(643-645)Ggg>Agg p.G215R NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 215 cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CAAGAAGCAAGGGATAGCATT 0.493000 115 112 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 140002088 140002088 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr9:140002088C>T ENST00000371589.4 + 12 1943 c.1870C>T c.(1870-1872)Ctg>Ttg p.L624L MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Silent_p.L327L NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 624 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CTGGGAGATTCTGCAGAGCTT 0.657000 89 87 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118774061 118774061 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:118774061G>A ENST00000334801.3 - 4 1597 c.633C>T c.(631-633)caC>caT p.H211H BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 211 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) GAGGAGGGCCGTGCGGGGCGC 0.697000 5 14 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31618636 31618636 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:31618636G>A ENST00000225823.2 - 1 1370 c.498C>T c.(496-498)acC>acT p.T166T ASIC2_ENST00000359872.6_Intron NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 128 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GCGGGCGCGCGGTGCGGTTGG 0.701000 13 26 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30867898 30867898 + Missense_Mutation SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:30867898T>A ENST00000251071.5 - 15 3395 c.2645A>T c.(2644-2646)tAt>tTt p.Y882F CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Y826F|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y832F|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Y548F|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y881F NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 882 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CATACCTTTATAACCACCAGG 0.413000 52 106 0 0 1 0 0 PAX3 5077 broad.mit.edu 37 2 223096999 223096999 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:223096999G>A ENST00000350526.4 - 5 726 c.590C>T c.(589-591)tCa>tTa p.S197L PAX3_ENST00000336840.6_Missense_Mutation_p.S197L|PAX3_ENST00000392069.2_Missense_Mutation_p.S197L|PAX3_ENST00000392070.2_Missense_Mutation_p.S197L|PAX3_ENST00000409551.3_Missense_Mutation_p.S196L|PAX3_ENST00000344493.4_Missense_Mutation_p.S197L NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 197 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGGGGTGCTGAGGCTAAAAG 0.413000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 33 67 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154379500 154379500 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:154379500C>G ENST00000406326.1 + 6 1171 c.768C>G c.(766-768)tgC>tgG p.C256W DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 367 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTCTTCACTGCCTGCGTGACT 0.493000 7 18 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37769986 37769986 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:37769986G>C ENST00000402918.1 - 3 2374 c.1589C>G c.(1588-1590)tCg>tGg p.S530W RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.S530W NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 530 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CTCTGCAGCCGAGCCCTGGCC 0.607000 102 133 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167823634 167823634 + Silent SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:167823634C>G ENST00000367848.1 - 18 2486 c.1989G>C c.(1987-1989)acG>acC p.T663T ADCY10_ENST00000367851.4_Silent_p.T755T|ADCY10_ENST00000545172.1_Silent_p.T602T Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 755 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CCTCAGACTCCGTTTGTTGGA 0.433000 12 122 0 0 1 0 0 EEF1E1 9521 broad.mit.edu 37 6 8102739 8102739 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:8102739C>G ENST00000379715.5 - 1 72 c.16G>C c.(16-18)Gag>Cag p.E6Q EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.E6Q|EEF1E1_ENST00000429723.2_Missense_Mutation_p.E6Q|EEF1E1_ENST00000507463.1_Missense_Mutation_p.E6Q NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 6 negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) AGCGACAACTCTGCGGCCGCC 0.602000 7 65 0 0 1 0 0 RFWD2 64326 broad.mit.edu 37 1 176175841 176175841 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:176175841C>A ENST00000367669.3 - 1 788 c.274G>T c.(274-276)Gcg>Tcg p.A92S RFWD2_ENST00000308769.8_Missense_Mutation_p.A92S NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 92 Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GGCCTGGCCGCGCAGCTGTGC 0.756000 4 24 0.150653 0.15196 1 1 0 LMTK2 22853 broad.mit.edu 37 7 97766644 97766644 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:97766644G>T ENST00000297293.5 + 2 414 c.121G>T c.(121-123)Gca>Tca p.A41S LMTK2_ENST00000493372.1_3'UTR NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 41 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GCCACCTGCTGCAGAAGTTTC 0.348000 10 117 0.00621372 0.00635949 1 1 0 PDPK1 5170 broad.mit.edu 37 16 2636824 2636824 + Nonsense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:2636824G>T ENST00000342085.4 + 11 1422 c.1273G>T c.(1273-1275)Gaa>Taa p.E425* PDPK1_ENST00000441549.3_Nonsense_Mutation_p.E425*|PDPK1_ENST00000268673.7_Nonsense_Mutation_p.E298*|PDPK1_ENST00000354836.5_Nonsense_Mutation_p.E401*|PDPK1_ENST00000389224.3_Nonsense_Mutation_p.E398* NM_002613.4 NP_002604.1 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase-1 425 actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 Ovarian(90;0.17) Celecoxib(DB00482) GAACTCCTTTGAACTGGACTT 0.512000 43 138 1.15183e-24 1.41049e-24 1 1 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158980417 158980417 + Nonsense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:158980417C>G ENST00000485419.1 + 4 405 c.236C>G c.(235-237)tCa>tGa p.S79* IQCJ_ENST00000451172.1_Nonsense_Mutation_p.S79*|IQCJ_ENST00000482126.1_Nonsense_Mutation_p.S52*|IQCJ-SCHIP1_ENST00000476809.1_Nonsense_Mutation_p.S52*|IQCJ_ENST00000397832.2_Nonsense_Mutation_p.S79*|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 cytoplasm identical protein binding|protein binding p.S79*(3) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 TCTGTCTCCTCAGAGAAGCTG 0.532000 25 168 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145772651 145772651 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr8:145772651C>T ENST00000276826.5 - 4 2020 c.1819G>A c.(1819-1821)Gag>Aag p.E607K ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E607K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E607K Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 607 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 GCCAGCGCCTCGTCCTCGCTG 0.687000 6 14 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61888504 61888504 + Missense_Mutation SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:61888504A>G ENST00000578681.1 + 14 1970 c.1369A>G c.(1369-1371)Att>Gtt p.I457V DDX42_ENST00000457800.2_Missense_Mutation_p.I457V|DDX42_ENST00000389924.2_Missense_Mutation_p.I457V|DDX42_ENST00000359353.5_Missense_Mutation_p.I338V|DDX42_ENST00000583590.1_Missense_Mutation_p.I457V NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 457 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 GATCGACCCTATTCGAGTGGT 0.398000 24 65 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210559487 210559487 + Nonsense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:210559487G>T ENST00000360351.4 + 7 3099 c.2593G>T c.(2593-2595)Gaa>Taa p.E865* MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E861* NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 865 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CAGTCAGCTCGAAGACCTGGG 0.468000 21 77 1.00905e-13 1.16996e-13 1 1 0 SPATA13 221178 broad.mit.edu 37 13 24858302 24858302 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr13:24858302G>T ENST00000424834.2 + 7 2667 c.2194G>T c.(2194-2196)Gcc>Tcc p.A732S SPATA13_ENST00000382108.3_Missense_Mutation_p.A732S|SPATA13_ENST00000399949.2_Missense_Mutation_p.A29S|SPATA13_ENST00000343003.6_Missense_Mutation_p.A51S|SPATA13_ENST00000382095.4_Missense_Mutation_p.A107S|SPATA13_ENST00000409126.1_Missense_Mutation_p.A29S Q96N96 SPT13_HUMAN spermatogenesis associated 13 107 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) TGAGCCCTCTGCCTTAGTGGA 0.473000 9 48 1.58986e-06 1.70727e-06 1 1 0 SF3A1 10291 broad.mit.edu 37 22 30736775 30736775 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:30736775C>T ENST00000439242.1 - 8 1034 c.903G>A c.(901-903)caG>caA p.Q301Q SF3A1_ENST00000215793.7_Silent_p.Q366Q NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 366 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GGGGCACTTTCTGCCCTTCTT 0.572000 20 118 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20493302 20493302 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr20:20493302C>G ENST00000202677.6 - 32 4853 c.4711G>C c.(4711-4713)Gag>Cag p.E1571Q NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1571 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TACTCATCCTCTTGAGCATTT 0.468000 21 61 0 0 1 0 0 EARS2 124454 broad.mit.edu 37 16 23536611 23536611 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:23536611T>C ENST00000449606.1 - 8 1473 c.1442A>G c.(1441-1443)tAc>tGc p.Y481C EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.Y481C|EARS2_ENST00000563459.1_Missense_Mutation_p.Y481C|EARS2_ENST00000563232.1_Missense_Mutation_p.Y481C NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 481 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) CACATTACTGTACTTGGTGCC 0.483000 18 63 0 0 1 0 0 OR8B4 283162 broad.mit.edu 37 11 124294278 124294278 + Nonsense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:124294278G>A ENST00000356130.3 - 1 511 c.490C>T c.(490-492)Cga>Tga p.R164* NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R164*(1) endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AAGGTCAGTCGCAGCATGCTT 0.542000 11 37 0 0 1 0 0 FAM133A 286499 broad.mit.edu 37 X 92964537 92964537 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:92964537C>T ENST00000538690.1 + 5 680 c.119C>T c.(118-120)aCc>aTc p.T40I FAM133A_ENST00000332647.4_Missense_Mutation_p.T40I|FAM133A_ENST00000355813.5_Missense_Mutation_p.T40I|FAM133A_ENST00000322139.4_Missense_Mutation_p.T40I NM_001171110.1 NP_001164581.1 Q8N9E0 F133A_HUMAN family with sequence similarity 133, member A 40 breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1) 20 CCAAGACCCACCTGGGAAGAA 0.378000 22 19 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34040316 34040316 + Splice_Site SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:34040316A>G ENST00000389232.4 + 54 8061 c.7989_splice c.e54-1 p.E2664_splice RYR3_ENST00000415757.3_Splice_Site_p.E2664_splice NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2664 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.E2664A(1) 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) CTCTTCTAGGAGAAGGAAATT 0.547000 31 76 0 0 1 0 0 ZBTB2 57621 broad.mit.edu 37 6 151687228 151687228 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:151687228C>G ENST00000325144.4 - 3 1113 c.973G>C c.(973-975)Gat>Cat p.D325H NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) ATGGGAGAATCAGAGATGTGC 0.572000 11 110 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167021 140167021 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr5:140167021C>T ENST00000504120.2 + 1 1146 c.1146C>T c.(1144-1146)aaC>aaT p.N382N PCDHA1_ENST00000378133.3_Silent_p.N382N|PCDHA1_ENST00000394633.3_Silent_p.N382N NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGCCAACGGGCAGGTGA 0.562000 51 95 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45746601 45746601 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr21:45746601C>T ENST00000403390.1 + 23 2340 c.2340C>T c.(2338-2340)caC>caT p.H780H PFKL_ENST00000349048.4_Silent_p.H733H P17858 K6PL_HUMAN phosphofructokinase, liver 733 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) TGCACAGGCACCGCATGCCAC 0.672000 5 10 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32595868 32595868 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr21:32595868C>T ENST00000286827.3 - 9 2320 c.1849G>A c.(1849-1851)Gac>Aac p.D617N TIAM1_ENST00000541036.1_Missense_Mutation_p.D617N|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 617 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 CGAAACAGGTCCATTTGGAAC 0.458000 14 87 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241702674 241702674 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:241702674C>T ENST00000498729.2 - 21 2104 c.1858G>A c.(1858-1860)Gag>Aag p.E620K KIF1A_ENST00000320389.7_Missense_Mutation_p.E611K NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 611 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GCTGGCGTCTCCGCACAAGGC 0.637000 5 22 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29444377 29444377 + Splice_Site SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:29444377G>A ENST00000544604.2 + 7 1088 c.912_splice c.e7-1 p.E305_splice ZNRF3_ENST00000402174.1_Splice_Site_p.E205_splice|ZNRF3_ENST00000332811.4_Splice_Site_p.E205_splice|ZNRF3_ENST00000406323.3_Splice_Site_p.E205_splice NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 305 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CCCTGCCCAGGAGCTGCGGGT 0.617000 11 55 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99642174 99642174 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr14:99642174C>T ENST00000345514.2 - 3 1052 c.786G>A c.(784-786)gaG>gaA p.E262E BCL11B_ENST00000357195.3_Silent_p.E333E|BCL11B_ENST00000443726.2_Silent_p.E139E NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 333 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCCCCATCTCCTCGGCACTGA 0.736000 T TLX3 T-ALL 3 6 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 130799420 130799420 + Silent SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:130799420G>T ENST00000383366.4 + 4 617 c.324G>T c.(322-324)acG>acT p.T108T NEK11_ENST00000356918.4_Silent_p.T108T|NEK11_ENST00000510688.1_Silent_p.T108T|NEK11_ENST00000511262.1_Silent_p.T108T|NEK11_ENST00000508196.1_Silent_p.T108T|NEK11_ENST00000507910.1_Silent_p.T108T|NEK11_ENST00000429253.2_Silent_p.T108T|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510769.1_Silent_p.T108T NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 108 Protein kinase. T -> M (in a colorectal adenocarcinoma sample; somatic mutation). cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 GCATTATCACGGAGTACTGTG 0.418000 11 71 7.03913e-09 7.70111e-09 1 1 0 DSCAML1 57453 broad.mit.edu 37 11 117395557 117395557 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:117395557G>T ENST00000321322.6 - 5 1081 c.1080C>A c.(1078-1080)ttC>ttA p.F360L DSCAML1_ENST00000527706.1_Missense_Mutation_p.F90L NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 300 Ig-like C2-type 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTGCCGAACCGAAGGTGTTGG 0.637000 3 10 6.4e-05 6.72919e-05 1 1 0 KRT9 3857 broad.mit.edu 37 17 39724874 39724874 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:39724874G>A ENST00000246662.4 - 5 1121 c.1056C>T c.(1054-1056)atC>atT p.I352I KRT9_ENST00000588431.1_Silent_p.I119I NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 352 Coil 2.|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) CCTCATGCTCGATCTGGGTTA 0.552000 6 371 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65413476 65413476 + Silent SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:65413476C>A ENST00000519389.1 + 8 1706 c.1527C>A c.(1525-1527)atC>atA p.I509I HEPH_ENST00000374727.3_Silent_p.I458I|HEPH_ENST00000419594.1_Silent_p.I458I|HEPH_ENST00000441993.2_Silent_p.I458I|HEPH_ENST00000343002.2_Silent_p.I455I|HEPH_ENST00000336279.5_Silent_p.I188I Q9BQS7 HEPH_HUMAN hephaestin 455 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 ATCTTGGAATCCTGGGTGAGG 0.423000 22 14 5.26018e-13 6.03882e-13 1 1 0 HOXB2 3212 broad.mit.edu 37 17 46621910 46621910 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:46621910G>A ENST00000330070.4 - 1 1531 c.364C>T c.(364-366)Ccg>Tcg p.P122S HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 122 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 CCGGAGGCCGGAACGGCGGAG 0.642000 4 10 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112786262 112786262 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:112786262C>G ENST00000295408.4 + 19 3078 c.2821C>G c.(2821-2823)Ctg>Gtg p.L941V MERTK_ENST00000421804.2_Missense_Mutation_p.L941V|MERTK_ENST00000409780.1_Missense_Mutation_p.L765V Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 941 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 ATGGGAAGATCTGACTTCTGC 0.537000 27 50 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24366162 24366162 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:24366162A>T ENST00000005284.3 + 3 1506 c.304A>T c.(304-306)Agg>Tgg p.R102W NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 102 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) AGGAGCTGTGAGGGCCTCCAG 0.632000 20 60 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45267355 45267355 + Splice_Site SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr5:45267355T>A ENST00000303230.4 - 7 1676 c.1618_splice c.e7-1 p.E540_splice NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 540 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CAGGCAAATCTCTATAAAAAC 0.393000 10 90 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53641650 53641650 + Silent SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:53641650T>C ENST00000342160.3 - 22 2563 c.2106A>G c.(2104-2106)ccA>ccG p.P702P HUWE1_ENST00000262854.6_Silent_p.P702P|HUWE1_ENST00000218328.8_Silent_p.P702P Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 702 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TCTGGATTGATGGCTTCTGAC 0.453000 34 22 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64665373 64665373 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:64665373C>T ENST00000421419.2 - 35 5052 c.4938G>A c.(4936-4938)tcG>tcA p.S1646S ATG2A_ENST00000377264.3_Silent_p.S1644S Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1644 protein binding p.S1644S(1) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGGCCTCCTGCGAACCAGTGG 0.697000 11 54 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70514020 70514020 + Silent SNP T T G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr8:70514020T>G ENST00000260128.4 + 10 1734 c.1017T>G c.(1015-1017)cgT>cgG p.R339R SULF1_ENST00000458141.2_Silent_p.R339R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.R339R|SULF1_ENST00000402687.4_Silent_p.R339R NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 339 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTGATATTCGTGTGCCTTTTT 0.418000 71 270 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26481755 26481755 + Missense_Mutation SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr8:26481755T>A ENST00000311151.5 + 4 822 c.410T>A c.(409-411)cTg>cAg p.L137Q DPYSL2_ENST00000523027.1_Missense_Mutation_p.L101Q|DPYSL2_ENST00000521913.1_Missense_Mutation_p.L101Q NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 137 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GACTACTCTCTGCATGTGGAC 0.557000 18 53 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60212702 60212702 + Nonsense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr14:60212702C>A ENST00000267484.5 - 2 1074 c.739G>T c.(739-741)Gga>Tga p.G247* NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 247 G -> E (in dbSNP:rs35645652). neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) ATGATTTTTCCCTCCACAGGA 0.448000 59 125 5.22555e-25 6.44423e-25 1 1 0 KIF1A 547 broad.mit.edu 37 2 241702692 241702692 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:241702692C>T ENST00000498729.2 - 21 2086 c.1840G>A c.(1840-1842)Gag>Aag p.E614K KIF1A_ENST00000320389.7_Missense_Mutation_p.E605K NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 605 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGCGTGCGCTCACGCTCCTGC 0.627000 5 18 0 0 1 0 0 APEX2 27301 broad.mit.edu 37 X 55033053 55033053 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:55033053C>T ENST00000374987.3 + 6 808 c.742C>T c.(742-744)Cgc>Tgc p.R248C APEX2_ENST00000471758.1_3'UTR NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 248 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 CGATAGCTACCGCTGCTTCCA 0.587000 Other BER factors 9 8 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119115159 119115159 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr9:119115159G>C ENST00000328252.3 + 16 4508 c.4139G>C c.(4138-4140)gGa>gCa p.G1380A PAPPA_ENST00000534838.1_Missense_Mutation_p.G418A NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1380 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGCAAGCCTGGATACCATGTG 0.527000 26 18 0 0 1 0 0 KATNBL1 79768 broad.mit.edu 37 15 34440901 34440901 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:34440901C>G ENST00000256544.3 - 5 631 c.489G>C c.(487-489)atG>atC p.M163I NM_024713.2 NP_078989.1 katanin p80 subunit B-like 1 CATTCAATCTCATATTCCTGC 0.363000 9 64 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144096925 144096925 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:144096925C>T ENST00000467773.1 - 6 1078 c.1079G>A c.(1078-1080)cGa>cAa p.R360Q NOBOX_ENST00000483238.1_Missense_Mutation_p.R328Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.R243Q NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 360 R -> Q. cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CTCCATTTTTCGCCACTTGGC 0.527000 9 15 0 0 1 0 0 ZNF384 171017 broad.mit.edu 37 12 6787456 6787456 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:6787456C>T ENST00000396795.1 - 5 1020 c.523G>A c.(523-525)Gaa>Aaa p.E175K ZNF384_ENST00000396801.3_Missense_Mutation_p.E175K|ZNF384_ENST00000361959.3_Missense_Mutation_p.E175K|ZNF384_ENST00000355772.4_Missense_Mutation_p.E120K|ZNF384_ENST00000319770.3_Missense_Mutation_p.E159K|ZNF384_ENST00000396799.2_Missense_Mutation_p.E175K Q8TF68 ZN384_HUMAN zinc finger protein 384 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 CCGCCTCCTTCCTCGGTTAGG 0.607000 T """EWSR1, TAF15 """ ALL 14 63 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56186819 56186819 + Nonsense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr20:56186819C>A ENST00000340462.4 - 5 1049 c.769G>T c.(769-771)Gag>Tag p.E257* ZBP1_ENST00000343535.4_Nonsense_Mutation_p.E280*|ZBP1_ENST00000371173.3_Nonsense_Mutation_p.E280*|ZBP1_ENST00000395822.3_Nonsense_Mutation_p.E205* Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 280 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GCAGGGCCCTCGGACGGGACG 0.647000 7 14 0.000442599 0.000461096 1 1 0 HOXC9 3225 broad.mit.edu 37 12 54396386 54396386 + Silent SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:54396386A>G ENST00000303450.4 + 2 781 c.711A>G c.(709-711)aaA>aaG p.K237K HOXC9_ENST00000508190.1_Silent_p.K237K|HOXC9_ENST00000504557.1_3'UTR NM_006897.1 NP_008828.1 P31274 HXC9_HUMAN homeobox C9 237 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 GGCAGGTCAAAATCTGGTTTC 0.488000 28 84 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060598 9060598 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:9060598G>T ENST00000397910.4 - 3 27051 c.26848C>A c.(26848-26850)Caa>Aaa p.Q8950K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8952 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 TAGAATTCTTGTCTAGCGCTG 0.473000 84 190 2.13431e-38 2.66026e-38 1 1 0 SHANK2 22941 broad.mit.edu 37 11 70331795 70331795 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:70331795C>G ENST00000338508.4 - 32 4605 c.4606G>C c.(4606-4608)Gat>Cat p.D1536H SHANK2_ENST00000449833.2_Missense_Mutation_p.D940H|SHANK2_ENST00000409161.1_Missense_Mutation_p.D939H|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1156H Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1156 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding p.D940Y(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCTTGCCCATCTGCATAGACT 0.507000 10 165 0 0 1 0 0 LOC81691 81691 broad.mit.edu 37 16 20844357 20844357 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:20844357A>T ENST00000261377.6 + 13 1504 c.1295A>T c.(1294-1296)aAg>aTg p.K432M AC004381.6_ENST00000348433.6_Missense_Mutation_p.K432M|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.K432M NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 GTGGGTCAGAAGCTTCTTTTT 0.383000 42 106 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148932870 148932870 + RNA SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:148932870G>T ENST00000539543.1 + 0 126 NR_027355.1 GAGTTGGTGGGAGACGGGTGA 0.632000 10 192 9.70103e-10 1.07824e-09 1 1 0 PTBP1 5725 broad.mit.edu 37 19 810548 810548 + Nonsense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:810548C>G ENST00000356948.6 + 14 1892 c.1469C>G c.(1468-1470)tCa>tGa p.S490* PTBP1_ENST00000349038.4_Nonsense_Mutation_p.S464*|PTBP1_ENST00000394601.4_Nonsense_Mutation_p.S483*|PTBP1_ENST00000350092.4_Nonsense_Mutation_p.S130* NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 464 RRM 4. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACAGGCCCTCAGTCTCCGAG 0.612000 25 55 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 6 46 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185158 56185158 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:56185158A>T ENST00000312253.1 - 1 550 c.551T>A c.(550-552)tTc>tAc p.F184Y NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 184 F -> L (in dbSNP:rs7930678). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) CAGAGCTAAGAAGGGGAGGTC 0.453000 6 64 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94294363 94294363 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:94294363G>C ENST00000265986.6 - 3 519 c.463C>G c.(463-465)Cat>Gat p.H155D NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 155 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGTGTTCATGAGAAACATCA 0.353000 17 107 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41958680 41958680 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:41958680G>A ENST00000269095.4 - 8 1155 c.851C>T c.(850-852)cCc>cTc p.P284L MPP2_ENST00000518766.1_Missense_Mutation_p.P329L|MPP2_ENST00000523501.1_Missense_Mutation_p.P273L|MPP2_ENST00000377184.3_Missense_Mutation_p.P301L|MPP2_ENST00000520305.1_Missense_Mutation_p.P145L|MPP2_ENST00000461854.1_Missense_Mutation_p.P308L|MPP2_ENST00000536246.1_Missense_Mutation_p.P273L NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 308 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CAGCTGGCTGGGAATGAGCCC 0.592000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 77 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 150 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179546430 179546430 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:179546430C>T ENST00000589042.1 - 136 33354 c.33130G>A c.(33130-33132)Gaa>Aaa p.E11044K TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10727K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9800K|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10727 Glu-rich.|Pro-rich. 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) ACTGGTTCTTCTGGGACAGGC 0.378000 22 75 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204342 125204342 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:125204342C>T ENST00000431078.1 + 6 1110 c.746C>T c.(745-747)gCg>gTg p.A249V NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 249 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GACAGCAAAGCGCGGCTCAGC 0.582000 8 39 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96707634 96707634 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr14:96707634C>A ENST00000542454.2 + 3 3976 c.888C>A c.(886-888)agC>agA p.S296R BDKRB2_ENST00000539359.1_Missense_Mutation_p.S296R|BDKRB2_ENST00000554311.1_Missense_Mutation_p.S323R|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.S323R P30411 BKRB2_HUMAN bradykinin receptor B2 323 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) TGGCCTACAGCAACAGCTGCC 0.582000 11 30 6.40141e-05 6.72919e-05 1 1 0 GAMT 2593 broad.mit.edu 37 19 1397496 1397496 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:1397496C>G ENST00000252288.2 - 6 639 c.573G>C c.(571-573)gaG>gaC p.E191D NM_000156.5 NP_000147.1 Q14353 GAMT_HUMAN guanidinoacetate N-methyltransferase 191 creatine biosynthetic process|muscle contraction cytosol guanidinoacetate N-methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1) 6 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Creatine(DB00148) GCACCTGCGTCTCCTGGTCGG 0.667000 19 60 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599312 136599312 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:136599312G>A ENST00000531224.1 - 4 959 c.707C>T c.(706-708)cCt>cTt p.P236L BCLAF1_ENST00000392348.2_Missense_Mutation_p.P234L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P234L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P236L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P236L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P234L NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 236 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACTCTGACTAGGTGGTGTAGC 0.443000 26 158 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54760128 54760128 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:54760128C>G ENST00000450632.1 - 4 483 c.406G>C c.(406-408)Gat>Cat p.D136H LILRB5_ENST00000316219.5_Missense_Mutation_p.D145H|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Missense_Mutation_p.D145H O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 145 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCCAGTGTATCACACTGGAGG 0.547000 26 74 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103832 53103832 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:53103832G>A ENST00000408890.4 + 1 484 c.468G>A c.(466-468)caG>caA p.Q156Q NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 156 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCCTGGACAGAGAgcccgcc 0.731000 8 41 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70350626 70350626 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:70350626T>C ENST00000558939.1 - 12 2300 c.923A>G c.(922-924)gAc>gGc p.D308G TLE3_ENST00000557907.1_Missense_Mutation_p.D308G|TLE3_ENST00000317509.8_Missense_Mutation_p.D308G|TLE3_ENST00000559048.1_Missense_Mutation_p.D313G|TLE3_ENST00000440567.3_Missense_Mutation_p.D301G|TLE3_ENST00000560939.1_Missense_Mutation_p.D313G|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559929.1_Missense_Mutation_p.D318G|TLE3_ENST00000539550.1_Missense_Mutation_p.D252G|TLE3_ENST00000558201.1_Missense_Mutation_p.D314G|TLE3_ENST00000557997.1_Missense_Mutation_p.D308G|TLE3_ENST00000560589.1_Missense_Mutation_p.D252G|TLE3_ENST00000558379.1_Missense_Mutation_p.D308G|TLE3_ENST00000442299.2_Missense_Mutation_p.D308G|TLE3_ENST00000451782.2_Missense_Mutation_p.D308G Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 308 Pro/Ser-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GGAGGATTTGTCGTTCTGAAG 0.617000 39 117 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95056438 95056438 + Missense_Mutation SNP C C T rs61740460 byFrequency TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr14:95056438C>T ENST00000329597.7 + 4 890 c.680C>T c.(679-681)tCg>tTg p.S227L SERPINA5_ENST00000554866.1_Missense_Mutation_p.S227L|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S227L|SERPINA5_ENST00000554276.1_Missense_Mutation_p.S227L NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 227 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TACGTGACCTCGGAGACTGTG 0.512000 14 30 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50378316 50378316 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:50378316G>C ENST00000376020.2 - 4 782 c.757C>G c.(757-759)Cag>Gag p.Q253E SHROOM4_ENST00000289292.7_Missense_Mutation_p.Q253E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q137E NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 253 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GATGACATCTGAGAGCTGGGG 0.657000 5 5 0 0 1 0 0 PGK1 5230 broad.mit.edu 37 X 77365394 77365394 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:77365394C>G ENST00000373316.4 + 2 263 c.96C>G c.(94-96)aaC>aaG p.N32K PGK1_ENST00000442431.1_Missense_Mutation_p.N32K|PGK1_ENST00000537456.1_Missense_Mutation_p.N4K NM_000291.3 NP_000282.1 P00558 PGK1_HUMAN phosphoglycerate kinase 1 32 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 TGAAGAACAACCAGATAACAA 0.378000 9 112 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 7 138 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 121960383 121960383 + Silent SNP T T G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:121960383T>G ENST00000334010.7 - 28 4142 c.3721A>C c.(3721-3723)Agg>Cgg p.R1241R CADPS2_ENST00000313070.7_Silent_p.R1202R|CADPS2_ENST00000412584.2_Silent_p.R1202R|CADPS2_ENST00000449022.2_Silent_p.R1243R NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 1243 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CGAAAGTCCCTGTAGGTTTTC 0.393000 57 170 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144886317 144886317 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr8:144886317G>C ENST00000356994.2 - 22 3025 c.3019C>G c.(3019-3021)Ctg>Gtg p.L1007V SCRIB_ENST00000377533.3_Missense_Mutation_p.L926V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L1007V NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1007 Interaction with ARHGEF7.|PDZ 3. 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) GCTCTTGGCAGACGGATCTCC 0.627000 5 30 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163070542 163070542 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:163070542C>A ENST00000188790.4 - 11 1115 c.908G>T c.(907-909)cGa>cTa p.R303L FAP_ENST00000443424.1_Missense_Mutation_p.R278L NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 303 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.R303L(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CAAACATACTCGTTCATCAGT 0.408000 34 137 2.08457e-15 2.44132e-15 1 1 0 SYT1 6857 broad.mit.edu 37 12 79689870 79689870 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:79689870G>C ENST00000261205.4 + 7 1153 c.496G>C c.(496-498)Gct>Cct p.A166P SYT1_ENST00000457153.2_Missense_Mutation_p.A163P|SYT1_ENST00000393240.3_Missense_Mutation_p.A166P|SYT1_ENST00000552744.1_Missense_Mutation_p.A166P NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 166 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 GATCATTCAGGCTGCCGAACT 0.428000 28 89 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704310 56704310 + Missense_Mutation SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:56704310T>A ENST00000586855.2 - 2 425 c.112A>T c.(112-114)Agg>Tgg p.R38W ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R38W A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 38 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCAGGGTTCCTGTCGTGATTT 0.562000 8 44 0 0 1 0 0 SLAIN1 122060 broad.mit.edu 37 13 78335059 78335059 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr13:78335059C>A ENST00000466548.1 + 7 1471 c.1445C>A c.(1444-1446)cCa>cAa p.P482Q SLAIN1_ENST00000314070.5_Missense_Mutation_p.P105Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.P263Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.P219Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.P340Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.P263Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.P219Q NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 482 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) TATGTGAGTCCAACCGTTCAA 0.517000 29 68 7.38237e-10 8.25784e-10 1 1 0 IPO5 3843 broad.mit.edu 37 13 98658520 98658520 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr13:98658520C>T ENST00000261574.5 + 17 1868 c.1688C>T c.(1687-1689)gCg>gTg p.A563V IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000493492.2_3'UTR NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 545 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GTTGAGAATGCGGTTCAAAAA 0.378000 4 106 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038610 75038610 + Silent SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:75038610C>A ENST00000326665.5 - 14 3002 c.2784G>T c.(2782-2784)tcG>tcT p.S928S C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 928 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 CTCCCTCCTCCGATGTCGCTG 0.552000 4 163 0.00024832 0.000259472 1 1 0 IDS 3423 broad.mit.edu 37 X 148571967 148571967 + Missense_Mutation SNP T T C rs113993953 byFrequency TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:148571967T>C ENST00000340855.6 - 7 1093 c.884A>G c.(883-885)aAa>aGa p.K295R IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370441.4_Missense_Mutation_p.K295R|IDS_ENST00000541269.1_Missense_Mutation_p.K84R NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 295 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CTGGCGGATTTTCCGCTGCAA 0.458000 37 23 0 0 1 0 0 SLC35B1 10237 broad.mit.edu 37 17 47783631 47783631 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:47783631T>C ENST00000240333.6 - 3 395 c.274A>G c.(274-276)Atc>Gtc p.I92V SLC35B1_ENST00000415270.2_Missense_Mutation_p.I129V P78383 S35B1_HUMAN solute carrier family 35, member B1 92 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 AGATAGGAGATAGAACAGGCA 0.468000 11 38 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74153353 74153353 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr18:74153353C>A ENST00000443185.2 - 3 1975 c.1658G>T c.(1657-1659)cGg>cTg p.R553L ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 553 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) GCAGCGGGCCCGCGCCGCCCT 0.711000 14 27 9.16793e-09 9.99877e-09 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11049462 11049462 + RNA SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr21:11049462C>T ENST00000470054.1 - 0 646 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGTTCTGGCACACTTTGCA 0.408000 11 333 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129518496 129518496 + Missense_Mutation SNP G G A rs5975187 byFrequency TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:129518496G>A ENST00000276218.2 - 1 1015 c.926C>T c.(925-927)tCg>tTg p.S309L NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 309 S -> L (in dbSNP:rs5975187). integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 ATTCCTGGCCGAGAGAAAGAG 0.537000 35 28 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058473 152058473 + Nonsense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:152058473G>C ENST00000368806.1 - 3 1749 c.1685C>G c.(1684-1686)tCa>tGa p.S562* NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 562 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) ACCTGTCTCTGAGCTGCTATT 0.542000 40 150 0 0 1 0 0 ZNF696 79943 broad.mit.edu 37 8 144378415 144378415 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr8:144378415C>T ENST00000330143.3 + 3 979 c.570C>T c.(568-570)ttC>ttT p.F190F NM_030895.2 NP_112157.2 Q9H7X3 ZN696_HUMAN zinc finger protein 696 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCAAGGCCTTCGGCCAGAGCT 0.711000 14 28 0 0 1 0 0 C10orf10 11067 broad.mit.edu 37 10 45473055 45473055 + Missense_Mutation SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:45473055T>A ENST00000298295.3 - 2 641 c.424A>T c.(424-426)Agc>Tgc p.S142C C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron NM_007021.3 NP_008952.1 Q9NTK1 DEPP_HUMAN chromosome 10 open reading frame 10 142 mitochondrion lung(1) 1 ATGGGCTTGCTGCTGTCCATC 0.632000 7 38 0 0 1 0 0 ERMN 57471 broad.mit.edu 37 2 158177959 158177959 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:158177959G>T ENST00000410096.1 - 3 970 c.679C>A c.(679-681)Cca>Aca p.P227T ERMN_ENST00000420719.2_Missense_Mutation_p.P207T|ERMN_ENST00000397283.2_Missense_Mutation_p.P240T|ERMN_ENST00000535935.1_Missense_Mutation_p.P121T NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 227 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 CTGCTCAGTGGGGAGTCCTCA 0.413000 45 181 1.00776e-21 1.21698e-21 1 1 0 AGAP11 119385 broad.mit.edu 37 10 88759231 88759231 + RNA SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:88759231G>T ENST00000444431.1 + 0 361 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding TACCTTTCTGGAATGGTGCAT 0.353000 25 75 4.7796e-09 5.26209e-09 1 1 0 ITPR2 3709 broad.mit.edu 37 12 26540393 26540393 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:26540393C>T ENST00000381340.3 - 55 8247 c.7831G>A c.(7831-7833)Gaa>Aaa p.E2611K RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2611 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ACATAACTTTCAGGTCCAGTG 0.378000 4 153 0 0 1 0 0 ZBED4 9889 broad.mit.edu 37 22 50278751 50278751 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:50278751G>A ENST00000216268.4 + 2 1918 c.1441G>A c.(1441-1443)Ggc>Agc p.G481S NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 481 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TCGGTACTGCGGCTGTGCCAT 0.587000 47 242 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42813950 42813950 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:42813950G>A ENST00000499536.2 + 1 1025 c.214G>A c.(214-216)Gag>Aag p.E72K PRR19_ENST00000341747.3_Missense_Mutation_p.E72K|PRR19_ENST00000598490.1_Missense_Mutation_p.E72K A6NJB7 PRR19_HUMAN proline rich 19 72 NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) GCTGAGCCGGGAGCACCGGGG 0.627000 48 189 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66467457 66467457 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:66467457G>A ENST00000273854.3 - 3 1412 c.812C>T c.(811-813)cCt>cTt p.P271L EPHA5_ENST00000511294.1_Missense_Mutation_p.P271L|EPHA5_ENST00000432638.2_Missense_Mutation_p.P271L|EPHA5_ENST00000354839.4_Missense_Mutation_p.P271L NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 271 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CATTTTGGGAGGTTCATCGGT 0.532000 TSP Lung(17;0.13) 26 67 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153247165 153247165 + Nonsense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:153247165G>C ENST00000281708.4 - 10 2866 c.1637C>G c.(1636-1638)tCa>tGa p.S546* FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S428*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S546*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S466*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S546*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S370* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 546 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TACCTGTAATGAATAGACTCT 0.398000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 42 69 0 0 1 0 0 LMNB2 84823 broad.mit.edu 37 19 2431827 2431827 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:2431827C>A ENST00000325327.3 - 10 1726 c.1664G>T c.(1663-1665)gGc>gTc p.G555V LMNB2_ENST00000582871.1_Missense_Mutation_p.G535V|LMNB2_ENST00000475819.1_5'UTR Q03252 LMNB2_HUMAN lamin B2 535 Tail. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCGCCCGTGCCCCAGCTGCT 0.687000 19 49 3.32936e-07 3.60853e-07 1 1 0 SLCO2A1 6578 broad.mit.edu 37 3 133663989 133663989 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:133663989G>A ENST00000310926.4 - 10 1684 c.1411C>T c.(1411-1413)Cat>Tat p.H471Y SLCO2A1_ENST00000493729.1_Missense_Mutation_p.H395Y NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 471 Kazal-like. sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CAGCCGGCATGGCAAGGGGAG 0.592000 158 285 0 0 1 0 0 GPR1 2825 broad.mit.edu 37 2 207041495 207041495 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:207041495T>C ENST00000407325.2 - 3 839 c.477A>G c.(475-477)atA>atG p.I159M GPR1_ENST00000437420.1_Missense_Mutation_p.I159M NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 159 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) GCCAGATGAATATAATGACAA 0.433000 30 99 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161159610 161159610 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:161159610G>C ENST00000308192.9 + 15 1906 c.1843G>C c.(1843-1845)Gag>Cag p.E615Q NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 615 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GATATCCCCAGAGTGGGTGTT 0.408000 24 102 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99695171 99695171 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:99695171T>C ENST00000393483.3 - 12 1677 c.833A>G c.(832-834)gAt>gGt p.D278G TSGA10_ENST00000410001.1_Missense_Mutation_p.D278G|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000539964.1_Missense_Mutation_p.D278G|TSGA10_ENST00000542655.1_Missense_Mutation_p.D278G|TSGA10_ENST00000355053.4_Missense_Mutation_p.D278G NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 278 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 AGATTTTTTATCCAAACATGC 0.363000 7 103 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140356440 140356440 + Silent SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr9:140356440G>T ENST00000406427.1 - 32 4035 c.3699C>A c.(3697-3699)ggC>ggA p.G1233G PNPLA7_ENST00000371457.1_Silent_p.G814G|PNPLA7_ENST00000277531.4_Silent_p.G1208G|PNPLA7_ENST00000492278.1_5'UTR NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1208 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TCTCCAGCACGCCGCTGCGGC 0.716000 5 9 0.217242 0.218494 1 1 0 ROBO3 64221 broad.mit.edu 37 11 124740596 124740596 + Silent SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:124740596T>A ENST00000397801.1 + 6 1197 c.1005T>A c.(1003-1005)gcT>gcA p.A335A ROBO3_ENST00000538940.1_Silent_p.A313A NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 335 Ig-like C2-type 3. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGGGCCGCGCTGAAGCATCTG 0.582000 3 19 0 0 1 0 0 HTN1 3346 broad.mit.edu 37 4 70920042 70920042 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:70920042G>A ENST00000511674.1 + 3 126 c.55G>A c.(55-57)Gct>Act p.A19T HTN1_ENST00000246896.3_Missense_Mutation_p.A19T P15515 HIS1_HUMAN histatin 1 19 biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding p.A19T(1) endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 TTCCAAGAGCGCTGATTCACA 0.229000 25 99 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111696917 111696917 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:111696917T>C ENST00000435970.1 - 15 3223 c.2407A>G c.(2407-2409)Act>Gct p.T803A REV3L_ENST00000358835.3_Missense_Mutation_p.T881A|REV3L_ENST00000368805.1_Missense_Mutation_p.T881A|REV3L_ENST00000368802.3_Missense_Mutation_p.T881A O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 881 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GCTCCACGAGTGGTTTTAGTT 0.358000 DNA polymerases (catalytic subunits) 21 138 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24800508 24800508 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr14:24800508C>T ENST00000310677.4 - 6 837 c.724G>A c.(724-726)Gag>Aag p.E242K ADCY4_ENST00000418030.2_Missense_Mutation_p.E242K|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Missense_Mutation_p.E242K NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 242 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) GCCATGATCTCTGCCTTCATC 0.552000 14 59 0 0 1 0 0 NARS2 79731 broad.mit.edu 37 11 78285432 78285432 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:78285432G>A ENST00000281038.5 - 1 477 c.102C>T c.(100-102)ctC>ctT p.L34L NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 34 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) TCTGAGCCCCGAGAGCGTCCC 0.587000 47 116 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42128271 42128271 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:42128271C>A ENST00000401548.3 + 10 1159 c.1119C>A c.(1117-1119)agC>agA p.S373R MEI1_ENST00000300398.4_De_novo_Start_InFrame|MEI1_ENST00000400107.1_De_novo_Start_InFrame|MEI1_ENST00000540833.1_Missense_Mutation_p.S113R NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 373 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TGGTGAGGAGCCTGCAGGGAA 0.552000 9 18 0.00829132 0.00846102 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124856680 124856680 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:124856680C>A ENST00000356219.3 - 21 2850 c.2695G>T c.(2695-2697)Ggg>Tgg p.G899W NCOR2_ENST00000404621.1_Missense_Mutation_p.G881W|NCOR2_ENST00000397355.1_Missense_Mutation_p.G882W|NCOR2_ENST00000405201.1_Missense_Mutation_p.G899W|NCOR2_ENST00000404121.2_Missense_Mutation_p.G452W|NCOR2_ENST00000429285.2_Missense_Mutation_p.G881W NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 899 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) CTGCCGCTCCCGCCCTCCTTC 0.721000 21 75 5.26018e-13 6.03882e-13 1 1 0 PTPRB 5787 broad.mit.edu 37 12 70949734 70949734 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:70949734T>C ENST00000334414.6 - 19 4953 c.4909A>G c.(4909-4911)Aag>Gag p.K1637E PTPRB_ENST00000451516.2_Missense_Mutation_p.K1329E|PTPRB_ENST00000261266.5_Missense_Mutation_p.K1419E|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1549E|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1329E|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1329E NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1419 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) AGGTACCTCTTATGGGGCACT 0.478000 17 78 0 0 1 0 0 ONECUT1 3175 broad.mit.edu 37 15 53081731 53081731 + Silent SNP T T G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:53081731T>G ENST00000305901.5 - 1 478 c.351A>C c.(349-351)acA>acC p.T117T ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 117 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) TGTCCGAGACTGTGGAGATGG 0.642000 6 29 0 0 1 0 0 PLAC1 10761 broad.mit.edu 37 X 133700082 133700082 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:133700082A>T ENST00000359237.4 - 3 916 c.631T>A c.(631-633)Tcc>Acc p.S211T PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 211 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) GATCACATGGACCCAATCATA 0.438000 23 37 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25294004 25294004 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:25294004C>T ENST00000400358.4 + 19 2145 c.2088C>T c.(2086-2088)ccC>ccT p.P696P SGSM1_ENST00000400359.4_Silent_p.P751P NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 751 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 AGAAACAGCCCAAGATCCCCA 0.557000 17 30 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72315214 72315214 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:72315214C>G ENST00000550746.1 + 17 1898 c.1834C>G c.(1834-1836)Cta>Gta p.L612V TBC1D15_ENST00000319106.8_Missense_Mutation_p.L603V|TBC1D15_ENST00000393309.3_Missense_Mutation_p.L366V|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L595V NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 612 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGCAATTTCTCTACAGATGGT 0.313000 47 162 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3084692 3084692 + Missense_Mutation SNP A A C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:3084692A>C ENST00000397461.1 + 21 2927 c.2543A>C c.(2542-2544)gAa>gCa p.E848A CNTN4_ENST00000358480.3_Missense_Mutation_p.E629A|CNTN4_ENST00000448906.2_Missense_Mutation_p.E520A|CNTN4_ENST00000397459.2_Missense_Mutation_p.E520A|CNTN4_ENST00000418658.1_Missense_Mutation_p.E848A|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.E848A NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 848 Fibronectin type-III 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GACAAAGAAGAAAATGCTAGA 0.353000 4 42 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20044215 20044215 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:20044215G>T ENST00000343769.5 + 4 479 c.451G>T c.(451-453)Ggg>Tgg p.G151W AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 151 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 TGATAAATATGGGAAAGTCTT 0.323000 11 88 9.70103e-10 1.07824e-09 1 1 0 DDX18 8886 broad.mit.edu 37 2 118579836 118579836 + Splice_Site SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:118579836A>G ENST00000263239.2 + 7 1193 c.1066_splice c.e7+1 p.P355_splice DDX18_ENST00000474694.1_3'UTR NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 355 Helicase ATP-binding. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AACTTTTGCCAAGTAAGTAGG 0.358000 10 50 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45599049 45599049 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:45599049C>T ENST00000336156.4 - 7 739 c.674G>A c.(673-675)cGc>cAc p.R225H KIAA0930_ENST00000443310.3_Missense_Mutation_p.R207H|KIAA0930_ENST00000391627.2_Missense_Mutation_p.R191H|KIAA0930_ENST00000251993.7_Missense_Mutation_p.R230H NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 225 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 CTGTGCCATGCGGGCGGCCAC 0.667000 5 398 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87079403 87079403 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:87079403G>A ENST00000265723.4 - 8 825 c.714C>T c.(712-714)ctC>ctT p.L238L ABCB4_ENST00000358400.3_Silent_p.L238L|ABCB4_ENST00000359206.3_Silent_p.L238L|ABCB4_ENST00000545634.1_Silent_p.L238L|ABCB4_ENST00000453593.1_Silent_p.L238L NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 238 ABC transmembrane type-1 1. L -> V (in dbSNP:rs45596335). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TAAATGCCGAGAGTATCTGGA 0.478000 34 125 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72388285 72388285 + Silent SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:72388285A>G ENST00000333850.3 + 8 1149 c.1008A>G c.(1006-1008)tcA>tcG p.S336S NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 336 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) CTCAGTTTTCACAAGAAATAG 0.413000 39 131 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121880535 121880535 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:121880535C>T ENST00000377069.4 - 18 2908 c.2502G>A c.(2500-2502)aaG>aaA p.K834K KDM2B_ENST00000542973.1_Silent_p.K271K|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.K903K NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 903 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TCTCCCTGGTCTTGGGGGGCG 0.697000 8 21 0 0 1 0 0 LEO1 123169 broad.mit.edu 37 15 52245395 52245395 + Missense_Mutation SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:52245395T>A ENST00000299601.5 - 8 1466 c.1406A>T c.(1405-1407)aAt>aTt p.N469I LEO1_ENST00000315141.5_Missense_Mutation_p.N409I NM_138792.2 NP_620147.1 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 469 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 14 all cancers(107;0.00264) AAAAAGATGATTGTGGTCGCC 0.373000 17 57 0 0 1 0 0 OPN3 23596 broad.mit.edu 37 1 241761125 241761125 + Missense_Mutation SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:241761125T>A ENST00000366554.2 - 3 974 c.868A>T c.(868-870)Ata>Tta p.I290L OPN3_ENST00000331838.5_Missense_Mutation_p.I211L|OPN3_ENST00000469376.1_5'UTR NM_014322.2 NP_055137.2 Q9H1Y3 OPN3_HUMAN opsin 3 290 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity endometrium(1)|large_intestine(5)|lung(5) 11 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) ACAATAGATATTGTTGGAGTG 0.383000 38 101 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140732209 140732209 + Silent SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr5:140732209C>A ENST00000523390.1 + 1 2382 c.2382C>A c.(2380-2382)atC>atA p.I794I PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCACAAAATCGCTTATGACC 0.468000 9 9 5.4927e-09 6.02816e-09 1 1 0 TPK1 27010 broad.mit.edu 37 7 144463007 144463007 + Silent SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:144463007A>T ENST00000360057.3 - 3 183 c.81T>A c.(79-81)ccT>ccA p.P27P TPK1_ENST00000378099.3_Silent_p.P27P NM_022445.3 NP_071890.2 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 27 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) AGTTGTCCAAAGGCTGATTAA 0.318000 21 86 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676291 100676291 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:100676291T>C ENST00000306151.4 + 3 1658 c.1594T>C c.(1594-1596)Tca>Cca p.S532P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 532 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TAGCACCCTTTCAACAACTCC 0.498000 190 605 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36074810 36074810 + Silent SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr14:36074810T>A ENST00000258840.6 - 36 6048 c.5658A>T c.(5656-5658)gtA>gtT p.V1886V RALGAPA1_ENST00000389698.3_Silent_p.V1839V|RALGAPA1_ENST00000382366.3_Silent_p.V1852V|RALGAPA1_ENST00000307138.6_Silent_p.V1839V Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1839 Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP. activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAAGACCAGCTACAAAATCTT 0.323000 35 102 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4935231 4935231 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:4935231G>A ENST00000345988.2 - 22 3514 c.3425C>T c.(3424-3426)gCc>gTc p.A1142V PPL_ENST00000590782.2_Missense_Mutation_p.A1140V NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1142 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GCGAGCCTTGGCAGCCTCGTC 0.617000 24 67 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56479213 56479213 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:56479213T>C ENST00000370754.5 - 36 4899 c.4900A>G c.(4900-4902)Atc>Gtc p.I1634V DST_ENST00000244364.6_Missense_Mutation_p.I1130V|DST_ENST00000370769.4_Missense_Mutation_p.I1456V|DST_ENST00000312431.6_Missense_Mutation_p.I1456V|DST_ENST00000370788.2_Missense_Mutation_p.I1456V|DST_ENST00000421834.2_Missense_Mutation_p.I1456V|DST_ENST00000446842.2_Missense_Mutation_p.I1130V|DST_ENST00000361203.3_Missense_Mutation_p.I1456V Q03001 DYST_HUMAN dystonin 1456 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) GTCTTGCTGATATTTGATACC 0.353000 23 57 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151860056 151860056 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:151860056G>A ENST00000355193.2 - 43 10824 c.10606C>T c.(10606-10608)Cat>Tat p.H3536Y KMT2C_ENST00000262189.6_Missense_Mutation_p.H3536Y lysine (K)-specific methyltransferase 2C AGATTTCCATGTCCCTGCTTC 0.502000 13 93 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76728458 76728458 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:76728458G>C ENST00000369950.3 - 7 973 c.784C>G c.(784-786)Cta>Gta p.L262V IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 262 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTTCCTGCTAGCTCCTGGTAA 0.552000 10 144 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81688719 81688719 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:81688719C>G ENST00000550584.2 - 23 3115 c.2820G>C c.(2818-2820)caG>caC p.Q940H PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Missense_Mutation_p.Q157H|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q841H|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q925H|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q866H|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000541570.2_Missense_Mutation_p.Q507H|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q787H|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q925H|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q940H NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 866 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CAATTTCTCTCTGGATCTCAG 0.493000 11 46 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61546400 61546400 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:61546400C>G ENST00000398571.2 - 22 3152 c.3076G>C c.(3076-3078)Gat>Cat p.D1026H NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1026 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) AGTGCATCATCATAACATTCA 0.308000 49 153 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939273 2939273 + Silent SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:2939273C>A ENST00000378404.2 + 1 1228 c.1023C>A c.(1021-1023)acC>acA p.T341T NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 341 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GGTTCTCCACCTGGATTGGAG 0.607000 55 118 4.6707e-30 5.80098e-30 1 1 0 BZRAP1 9256 broad.mit.edu 37 17 56388466 56388466 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:56388466C>T ENST00000355701.3 - 19 4060 c.3190G>A c.(3190-3192)Ggg>Agg p.G1064R BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1004R|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1064R NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1064 Fibronectin type-III 3. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCCGACTCCCCGTGGGGCGAC 0.692000 4 13 0 0 1 0 0 GPR1 2825 broad.mit.edu 37 2 207041523 207041523 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:207041523G>T ENST00000407325.2 - 3 811 c.449C>A c.(448-450)aCc>aAc p.T150N GPR1_ENST00000437420.1_Missense_Mutation_p.T150N NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 150 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) GTTCTTGAGGGTTCGATGCCG 0.458000 30 110 3.99451e-17 4.74178e-17 1 1 0 TWISTNB 221830 broad.mit.edu 37 7 19748631 19748631 + Silent SNP T T A rs145791338 byFrequency TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:19748631T>A ENST00000222567.5 - 1 79 c.9A>T c.(7-9)gcA>gcT p.A3A NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 3 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 CTGAGCAACCTGCAGCCATGC 0.647000 OREG0017879 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 47 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1653421 1653421 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:1653421G>C ENST00000252804.4 - 17 2181 c.2131C>G c.(2131-2133)Cca>Gca p.P711A NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 711 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGGTACTGTGGAGACACCAGG 0.592000 12 86 0 0 1 0 0 MMS19 64210 broad.mit.edu 37 10 99226647 99226647 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:99226647G>C ENST00000438925.2 - 15 1644 c.1309C>G c.(1309-1311)Ctg>Gtg p.L437V MMS19_ENST00000327238.10_Missense_Mutation_p.L339V|MMS19_ENST00000355839.6_Missense_Mutation_p.L394V|MMS19_ENST00000327277.7_Missense_Mutation_p.L73V|MMS19_ENST00000370782.2_Missense_Mutation_p.L437V NM_022362.4 NP_071757.4 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog (S. cerevisiae) 437 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1) 16 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) AAGCCATTCAGAGGCCTTTGA 0.517000 Direct reversal of damage 12 72 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112471791 112471791 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:112471791C>T ENST00000230538.7 - 17 2492 c.2095G>A c.(2095-2097)Ggt>Agt p.G699S LAMA4_ENST00000424408.2_Missense_Mutation_p.G692S|LAMA4_ENST00000389463.4_Missense_Mutation_p.G692S|LAMA4_ENST00000522006.1_Missense_Mutation_p.G692S NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 699 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AGGGCTCCACCCACACGCCTG 0.493000 20 126 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 435806 435806 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:435806G>A ENST00000338977.5 - 2 2462 c.2414C>T c.(2413-2415)gCg>gTg p.A805V ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.A817V|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 ACTAGTAAACGCTTTACCACA 0.393000 29 55 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34015019 34015019 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:34015019G>T ENST00000389232.4 + 44 6793 c.6723G>T c.(6721-6723)ttG>ttT p.L2241F RYR3_ENST00000415757.3_Missense_Mutation_p.L2241F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2241 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACGGGCTCTTGGCAGCCATGC 0.572000 27 150 2.48779e-11 2.79177e-11 1 1 0 GNL1 2794 broad.mit.edu 37 6 30521326 30521326 + Silent SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:30521326A>G ENST00000376621.3 - 6 1579 c.609T>C c.(607-609)aaT>aaC p.N203N NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 203 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 CTGGCGGGAAATTCACAACCT 0.532000 7 78 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43714735 43714735 + Silent SNP G G T rs149806632 TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr21:43714735G>T ENST00000398437.1 + 15 2359 c.2211G>T c.(2209-2211)acG>acT p.T737T ABCG1_ENST00000361802.2_Silent_p.T591T|ABCG1_ENST00000347800.2_Silent_p.T576T|ABCG1_ENST00000340588.4_Silent_p.T699T|ABCG1_ENST00000343687.3_Silent_p.T590T|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.T579T|ABCG1_ENST00000398457.2_Silent_p.T581T P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 591 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) CCATCCCCACGTACCTACAGT 0.622000 24 45 7.92952e-12 8.956e-12 1 1 0 ORM2 5005 broad.mit.edu 37 9 117093137 117093137 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr9:117093137G>C ENST00000431067.2 + 3 359 c.323G>C c.(322-324)aGa>aCa p.R108T ORM2_ENST00000412657.1_3'UTR NM_000608.2 NP_000599.1 orosomucoid 2 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1) 7 Myeloproliferative disorder(63;0.163) ACCGTCTCCAGATACGGTGAG 0.567000 6 102 0 0 1 0 0 ELF2 1998 broad.mit.edu 37 4 139993125 139993125 + Missense_Mutation SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:139993125T>A ENST00000394235.2 - 6 887 c.385A>T c.(385-387)Att>Ttt p.I129F ELF2_ENST00000510408.1_Missense_Mutation_p.I69F|ELF2_ENST00000379549.2_Missense_Mutation_p.I81F|ELF2_ENST00000358635.3_Missense_Mutation_p.I81F|ELF2_ENST00000379550.1_Missense_Mutation_p.I141F|ELF2_ENST00000265495.4_Missense_Mutation_p.I129F NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 141 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) GTTTCTGTAATGACATCTGGC 0.388000 7 144 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15091659 15091659 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:15091659T>C ENST00000378217.3 + 3 245 c.58T>C c.(58-60)Tac>Cac p.Y20H OLAH_ENST00000378228.3_Missense_Mutation_p.Y20H NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 20 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 CAACTGCTTATACAAAAACCC 0.358000 20 87 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22037292 22037292 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr8:22037292G>A ENST00000306385.5 + 7 1581 c.911G>A c.(910-912)cGg>cAg p.R304Q BMP1_ENST00000397814.3_Missense_Mutation_p.R304Q|BMP1_ENST00000397816.3_Missense_Mutation_p.R304Q|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.R304Q NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 304 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CAAAGGACACGGCTCAGCAAG 0.587000 23 27 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66492458 66492458 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr5:66492458G>A ENST00000256447.4 - 1 169 c.12C>T c.(10-12)gaC>gaT p.D4D NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 4 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) AGCAGCTGACGTCAAACGCCA 0.493000 11 139 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215901716 215901716 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:215901716C>T ENST00000366943.2 - 61 12108 c.11722G>A c.(11722-11724)Ggc>Agc p.G3908S USH2A_ENST00000307340.3_Missense_Mutation_p.G3908S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3908 Fibronectin type-III 24. 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) TCTTCAATGCCAGCAGGGCGT 0.428000 HNSCC(13;0.011) 22 40 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31673444 31673444 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr18:31673444G>C ENST00000261592.5 - 5 1054 c.757C>G c.(757-759)Cat>Gat p.H253D NOL4_ENST00000589544.1_Missense_Mutation_p.H253D|NOL4_ENST00000538587.1_Missense_Mutation_p.H179D|NOL4_ENST00000535475.1_Missense_Mutation_p.H98D|NOL4_ENST00000269185.4_Missense_Mutation_p.H139D NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 253 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TGCTGGCCATGAAGATTCTGG 0.383000 39 108 0 0 1 0 0 SLC16A13 201232 broad.mit.edu 37 17 6941599 6941599 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:6941599T>C ENST00000308027.6 + 3 780 c.472T>C c.(472-474)Ttt>Ctt p.F158L NM_201566.2 NP_963860.1 Q7RTY0 MOT13_HUMAN solute carrier family 16, member 13 158 integral to membrane|plasma membrane symporter activity p.F158L(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 ATTTGCCCCCTTTTTCCAGTG 0.652000 4 100 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57337084 57337084 + Nonsense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:57337084G>T ENST00000374900.4 + 3 454 c.334G>T c.(334-336)Gaa>Taa p.E112* NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 112 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 AGAGAAGCAGGAAGATGAAGC 0.413000 HNSCC(52;0.14) 20 24 0.00152264 0.00157686 1 1 0 SLC4A4 8671 broad.mit.edu 37 4 72319325 72319325 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:72319325C>T ENST00000340595.3 + 9 1500 c.1304C>T c.(1303-1305)gCa>gTa p.A435V SLC4A4_ENST00000264485.5_Missense_Mutation_p.A479V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A479V|SLC4A4_ENST00000512686.1_Missense_Mutation_p.A435V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A479V|SLC4A4_ENST00000514331.1_3'UTR NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 479 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ATTTATCTGGCAACTGTAACT 0.403000 43 197 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155157458 155157458 + Silent SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:155157458C>A ENST00000357232.3 - 25 6980 c.6981G>T c.(6979-6981)ctG>ctT p.L2327L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2327 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGGAAATAGGCAGATTTTCTG 0.398000 38 89 6.19805e-25 7.61662e-25 1 1 0 DSEL 92126 broad.mit.edu 37 18 65180625 65180625 + Silent SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr18:65180625T>C ENST00000310045.7 - 2 2724 c.1251A>G c.(1249-1251)gcA>gcG p.A417A CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 407 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TGTGTATTTTTGCAGTACCAT 0.478000 21 54 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108589888 108589888 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:108589888C>T ENST00000332082.4 + 3 1097 c.279C>T c.(277-279)ttC>ttT p.F93F WSCD2_ENST00000549903.1_Silent_p.F93F|WSCD2_ENST00000261400.3_Silent_p.F93F|WSCD2_ENST00000547525.1_Silent_p.F93F Q2TBF2 WSCD2_HUMAN WSC domain containing 2 93 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GACCCTGGTTCAAGGGCAAGG 0.602000 38 102 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61957720 61957720 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:61957720G>C ENST00000423893.2 - 5 676 c.615C>G c.(613-615)atC>atG p.I205M GH2_ENST00000332800.7_3'UTR|GH2_ENST00000456543.2_Missense_Mutation_p.S204W|GH2_ENST00000449787.2_Missense_Mutation_p.I190M P01242 SOM2_HUMAN growth hormone 2 205 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 GGCACTGCACGATGCGCAGGA 0.587000 29 82 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61978159 61978159 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr20:61978159C>G ENST00000370263.4 - 6 2036 c.1815G>C c.(1813-1815)atG>atC p.M605I CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 605 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGATGATGAACATCCAGAGGA 0.662000 18 61 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152321641 152321641 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:152321641G>A ENST00000243326.4 + 29 6090 c.5607G>A c.(5605-5607)tcG>tcA p.S1869S RIF1_ENST00000453091.2_Silent_p.S1869S|RIF1_ENST00000428287.2_Silent_p.S1869S|RIF1_ENST00000444746.2_Silent_p.S1869S|RIF1_ENST00000430328.2_Silent_p.S1869S Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1869 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TAGGAGACTCGAAAAATGTTT 0.373000 32 82 0 0 1 0 0 G6PD 2539 broad.mit.edu 37 X 153760789 153760789 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:153760789C>G ENST00000393562.2 - 10 1753 c.1370G>C c.(1369-1371)aGa>aCa p.R457T G6PD_ENST00000369620.2_Missense_Mutation_p.R473T|G6PD_ENST00000393564.2_Missense_Mutation_p.R427T NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 427 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACCTTGTATCTGTTGCCGTA 0.612000 86 86 0 0 1 0 0 PARD6G 84552 broad.mit.edu 37 18 77918076 77918076 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr18:77918076T>C ENST00000353265.3 - 3 906 c.709A>G c.(709-711)Atc>Gtc p.I237V AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron NM_032510.3 NP_115899.1 Q9BYG4 PAR6G_HUMAN par-6 family cell polarity regulator gamma 237 Interaction with PARD3 and CDC42 (By similarity).|PDZ. cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) CTGTTGGCGATCATCATGTCC 0.667000 25 45 0 0 1 0 0 TPRX1 284355 broad.mit.edu 37 19 48305074 48305074 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:48305074C>T ENST00000535759.1 - 4 1484 c.1485G>A c.(1483-1485)gtG>gtA p.V495V TPRX1_ENST00000543508.1_Silent_p.V388V|TPRX1_ENST00000322175.3_Silent_p.V398V Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 398 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) GATTTTCATTCACAGAGCCAC 0.522000 37 109 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184105822 184105822 + Splice_Site SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:184105822G>C ENST00000204604.1 + 20 2800 c.e20+1 CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000450923.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Splice_Site NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGTGTCCAGGTGAGAGAGGT 0.592000 5 18 0 0 1 0 0 C15orf38 348110 broad.mit.edu 37 15 90447129 90447129 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:90447129C>T ENST00000357484.5 - 4 508 c.388G>A c.(388-390)Gag>Aag p.E130K C15orf38_ENST00000460685.1_Missense_Mutation_p.E34K|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.E130K NM_182616.2 NP_872422.1 chromosome 15 open reading frame 38 breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1) 10 Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) GTGAGGCTCTCTGTCAGCGCG 0.647000 18 75 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62165562 62165562 + Silent SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:62165562T>C ENST00000261517.5 - 78 10534 c.10461A>G c.(10459-10461)aaA>aaG p.K3487K VPS13C_ENST00000395898.3_Silent_p.K3444K|VPS13C_ENST00000395896.4_Silent_p.K3487K|VPS13C_ENST00000249837.3_Silent_p.K3444K NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3487 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 CTGCCAAACCTTTCCCAACAG 0.438000 53 131 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42225914 42225914 + Silent SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:42225914C>A ENST00000541110.1 - 10 2923 c.2355G>T c.(2353-2355)acG>acT p.T785T TRERF1_ENST00000340840.2_Silent_p.T682T|TRERF1_ENST00000354325.2_Silent_p.T682T|TRERF1_ENST00000372917.4_Silent_p.T682T|TRERF1_ENST00000372922.4_Silent_p.T765T Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 765 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGGGGTGACCGTCACGTTGC 0.433000 6 57 0.00198382 0.00204234 1 1 0 SPATA16 83893 broad.mit.edu 37 3 172631466 172631466 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:172631466C>G ENST00000351008.3 - 10 1755 c.1572G>C c.(1570-1572)tgG>tgC p.W524C NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 524 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) GGATCATATTCCACACACGTT 0.373000 19 128 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158636108 158636108 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:158636108G>T ENST00000368148.3 - 16 2398 c.2218C>A c.(2218-2220)Cag>Aag p.Q740K SPTA1_ENST00000368147.3_Missense_Mutation_p.Q740K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 740 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAACAAACCTGACGAGCAGCC 0.463000 12 46 7.93312e-07 8.54524e-07 1 1 0 SHANK1 50944 broad.mit.edu 37 19 51218945 51218945 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:51218945C>T ENST00000293441.1 - 3 520 c.502G>A c.(502-504)Gag>Aag p.E168K SHANK1_ENST00000391814.1_Missense_Mutation_p.E168K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E168K NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 168 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGCTGCTTCTCATCCAGGTTG 0.542000 39 159 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89180150 89180150 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr8:89180150G>A ENST00000286614.6 - 4 738 c.457C>T c.(457-459)Cgc>Tgc p.R153C MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 153 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 AAGGCACGGCGAATAGCTTTA 0.373000 13 68 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123857283 123857283 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:123857283C>T ENST00000274008.3 + 7 1375 c.1306C>T c.(1306-1308)Cgt>Tgt p.R436C SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 436 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 AGCAAAGTTACGTCAGATATT 0.308000 7 230 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74472517 74472517 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:74472517C>T ENST00000323940.5 - 19 2153 c.1908G>A c.(1906-1908)agG>agA p.R636R STRA6_ENST00000563965.1_Silent_p.R675R|STRA6_ENST00000535552.1_Silent_p.R673R|STRA6_ENST00000449139.2_Silent_p.R636R|STRA6_ENST00000423167.2_Silent_p.R627R|STRA6_ENST00000416286.3_Silent_p.R628R|STRA6_ENST00000395105.4_Silent_p.R636R|STRA6_ENST00000574278.1_Silent_p.R651R|STRA6_ENST00000574439.1_5'UTR NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 636 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 CCCAGCGAGCCCTGCCGCGGC 0.647000 60 145 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46773075 46773075 + Silent SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:46773075G>T ENST00000262738.3 - 24 7466 c.7467C>A c.(7465-7467)ctC>ctA p.L2489L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2489 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCAGGCTCAGGAGGACGAAGG 0.602000 25 34 1.1804e-14 1.37779e-14 1 1 0 CAPRIN2 65981 broad.mit.edu 37 12 30867899 30867899 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:30867899A>T ENST00000251071.5 - 15 3394 c.2644T>A c.(2644-2646)Tat>Aat p.Y882N CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Y826N|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y832N|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Y548N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y881N NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 882 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ATACCTTTATAACCACCAGGG 0.413000 51 110 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902430 247902430 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:247902430C>A ENST00000283225.2 + 1 514 c.514C>A c.(514-516)Cta>Ata p.L172I RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 CTCTGATGAGCTACATCAGTT 0.483000 53 242 4.33383e-22 5.27006e-22 1 1 0 ZNF214 7761 broad.mit.edu 37 11 7021161 7021161 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:7021161G>T ENST00000278314.4 - 3 2068 c.1753C>A c.(1753-1755)Cgt>Agt p.R585S ZNF214_ENST00000536068.1_Missense_Mutation_p.R585S NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TAATATTCACGGCATTTGTAA 0.338000 13 72 0.0167234 0.0170159 1 1 0 WBP2NL 164684 broad.mit.edu 37 22 42415411 42415411 + Silent SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:42415411C>G ENST00000328823.9 + 2 190 c.159C>G c.(157-159)ctC>ctG p.L53L NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 53 GRAM. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 CATTGTTTCTCACTTCATACC 0.388000 37 97 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45224904 45224904 + Missense_Mutation SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr20:45224904T>A ENST00000279027.4 - 5 704 c.686A>T c.(685-687)aAc>aTc p.N229I SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000372121.1_Missense_Mutation_p.T207S|SLC13A3_ENST00000290317.5_Missense_Mutation_p.N182I|SLC13A3_ENST00000472148.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T207S|SLC13A3_ENST00000396360.1_Missense_Mutation_p.N182I NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 229 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CTTCCAGATGTTCCGACGATA 0.552000 31 102 0 0 1 0 0 CHPF 79586 broad.mit.edu 37 2 220404341 220404341 + Missense_Mutation SNP C C T rs143750392 byFrequency TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:220404341C>T ENST00000243776.6 - 4 2340 c.2092G>A c.(2092-2094)Gaa>Aaa p.E698K CHPF_ENST00000535926.1_Missense_Mutation_p.E536K NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 698 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) AGCTCCTCTTCTTGTTCTGAG 0.637000 36 88 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77651526 77651526 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:77651526G>A ENST00000461745.1 + 20 3920 c.3020G>A c.(3019-3021)aGc>aAc p.S1007N ROBO2_ENST00000487694.3_Missense_Mutation_p.S1023N|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1007N NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1007 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CATTCCAACAGCATACATGAA 0.423000 20 48 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118314954 118314954 + Missense_Mutation SNP T T G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:118314954T>G ENST00000369221.2 + 8 774 c.746T>G c.(745-747)gTg>gGg p.V249G NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 249 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AATGGAGGAGTGGAAATGCCT 0.398000 18 126 0 0 1 0 0 WDR27 253769 broad.mit.edu 37 6 170033070 170033070 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:170033070C>T ENST00000333572.6 - 21 2715 c.2196G>A c.(2194-2196)cgG>cgA p.R732R WDR27_ENST00000448612.1_Silent_p.R732R|WDR27_ENST00000423258.1_Silent_p.R605R|WDR27_ENST00000546525.1_5'UTR A2RRH5 WDR27_HUMAN WD repeat domain 27 702 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GATGGACAGGCCGTGAGTGGG 0.468000 4 36 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10209851 10209851 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:10209851C>T ENST00000418404.3 - 36 5554 c.5391G>A c.(5389-5391)ctG>ctA p.L1797L MYH13_ENST00000570743.1_Silent_p.L1797L|MYH13_ENST00000252172.4_Silent_p.L1797L Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1797 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GACGGTGCTGCAGGTCCTTCA 0.557000 75 114 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41457578 41457578 + Silent SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr21:41457578G>T ENST00000400454.1 - 23 4560 c.4083C>A c.(4081-4083)gcC>gcA p.A1361A NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1361 Ig-like C2-type 10. 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) AGTTGTTATTGGCAATGCAGC 0.393000 32 99 1.36161e-19 1.62741e-19 1 1 0 F13B 2165 broad.mit.edu 37 1 197026314 197026314 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:197026314C>A ENST00000367412.1 - 7 1043 c.1000G>T c.(1000-1002)Gta>Tta p.V334L NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 334 Sushi 6. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TCACAGGCTACCTTCTCCTGT 0.388000 22 89 3.10358e-05 3.29225e-05 1 1 0 CATSPERD 257062 broad.mit.edu 37 19 5727306 5727306 + Missense_Mutation SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:5727306A>G ENST00000381624.3 + 3 215 c.154A>G c.(154-156)Aca>Gca p.T52A CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 52 integral to membrane TCCTACAACAACACGCTTGAT 0.299000 11 141 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507937 155507937 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:155507937G>A ENST00000302053.3 - 5 722 c.644C>T c.(643-645)tCt>tTt p.S215F FGA_ENST00000403106.3_Missense_Mutation_p.S215F NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 215 SR -> RS (in Ref. 9; AA sequence). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCTATCTCTAGAGGGAAGTAA 0.458000 11 129 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57337083 57337083 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:57337083G>T ENST00000374900.4 + 3 453 c.333G>T c.(331-333)caG>caT p.Q111H NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 111 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CAGAGAAGCAGGAAGATGAAG 0.408000 HNSCC(52;0.14) 21 24 0.00188189 0.00194314 1 1 0 KIAA1524 57650 broad.mit.edu 37 3 108284262 108284262 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:108284262C>G ENST00000295746.8 - 12 1531 c.1455G>C c.(1453-1455)ttG>ttC p.L485F KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.L326F NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 485 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTTTGTTAATCAAATCAAGAG 0.289000 25 191 0 0 1 0 0 MACROD2 140733 broad.mit.edu 37 20 15412049 15412049 + Splice_Site SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr20:15412049G>A ENST00000217246.4 + 7 935 c.e7-1 MACROD2_ENST00000310348.4_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) TTTATTCACAGGCATTTCCCT 0.333000 40 132 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20909266 20909266 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr22:20909266G>A ENST00000263205.7 + 5 351 c.282G>A c.(280-282)gcG>gcA p.A94A MED15_ENST00000406969.1_Silent_p.A68A|MED15_ENST00000541476.1_Silent_p.A68A|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Silent_p.A94A|MED15_ENST00000382974.2_Intron NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 94 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GACCTGCTGCGGGAGCCGCTG 0.622000 42 62 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170001043 170001043 + Missense_Mutation SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:170001043C>A ENST00000367765.1 - 8 2206 c.705G>T c.(703-705)caG>caT p.Q235H KIFAP3_ENST00000538366.1_Missense_Mutation_p.Q197H|KIFAP3_ENST00000361580.2_Missense_Mutation_p.Q275H|KIFAP3_ENST00000367767.1_Missense_Mutation_p.Q231H NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 275 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATAGCTGTTCCTGTTTTACCA 0.348000 46 237 9.22156e-22 1.11747e-21 1 1 0 ASPRV1 151516 broad.mit.edu 37 2 70188050 70188050 + Nonsense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:70188050C>T ENST00000320256.4 - 1 1347 c.771G>A c.(769-771)tgG>tgA p.W257* NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 257 Peptidase A2. protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 CCGCTGTATCCCAGACACCCA 0.557000 23 80 0 0 1 0 0 ZNF85 7639 broad.mit.edu 37 19 21131712 21131712 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:21131712G>T ENST00000601023.1 + 2 861 c.215G>T c.(214-216)tGt>tTt p.C72F ZNF85_ENST00000345030.6_Missense_Mutation_p.C98F|ZNF85_ENST00000328178.8_Missense_Mutation_p.C131F|ZNF85_ENST00000597314.1_3'UTR Q03923 ZNF85_HUMAN zinc finger protein 85 131 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.C131F(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 AAAGGAGGTTGTAATGGACTT 0.328000 34 109 6.90743e-12 7.85242e-12 1 1 0 KCNA3 3738 broad.mit.edu 37 1 111215769 111215769 + Missense_Mutation SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:111215769T>A ENST00000369769.2 - 1 1886 c.1663A>T c.(1663-1665)Acc>Tcc p.T555S NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 555 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGTGCAGGTGGCAGTGGAA 0.458000 46 116 0 0 1 0 0 WDR45B 56270 broad.mit.edu 37 17 80576938 80576938 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:80576938G>C ENST00000392325.4 - 7 879 c.685C>G c.(685-687)Caa>Gaa p.Q229E WDR45B_ENST00000571835.1_5'UTR NM_019613.3 NP_062559.2 WD repeat domain 45B p.Q229E(1) TTGGCTGCTTGAGATCCTCTT 0.463000 29 95 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81746389 81746389 + Missense_Mutation SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:81746389A>G ENST00000356860.3 - 6 835 c.497T>C c.(496-498)gTc>gCc p.V166A CACNA2D1_ENST00000423588.1_Missense_Mutation_p.V166A|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.V166A NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 166 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AGGAATATGGACTGCTGCGTG 0.418000 22 126 0 0 1 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150027717 150027717 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:150027717C>G ENST00000343855.4 + 1 780 c.224C>G c.(223-225)aCc>aGc p.T75S LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like GTGCTGGCCACCTTGCTGGAC 0.607000 41 105 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33893746 33893746 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:33893746G>A ENST00000389232.4 + 17 1985 c.1915G>A c.(1915-1917)Gta>Ata p.V639I RYR3_ENST00000415757.3_Missense_Mutation_p.V639I NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 639 B30.2/SPRY 1. 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) GATTAACGATGTAACCAGGTA 0.507000 7 43 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232650782 232650782 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:232650782G>A ENST00000366630.1 - 2 662 c.304C>T c.(304-306)Cgg>Tgg p.R102W SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R102W Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 102 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GTCTGAGACCGGCTTTCCCAC 0.522000 45 170 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687738 158687738 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:158687738G>T ENST00000368146.1 - 1 215 c.216C>A c.(214-216)caC>caA p.H72Q OR6K3_ENST00000368145.1_Missense_Mutation_p.H56Q Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) ACATGGGGTTGTGGAGATGGG 0.383000 26 228 8.24728e-16 9.69125e-16 1 1 0 SORCS1 114815 broad.mit.edu 37 10 108924006 108924006 + Silent SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:108924006C>A ENST00000263054.6 - 1 286 c.279G>T c.(277-279)cgG>cgT p.R93R SORCS1_ENST00000344440.6_Silent_p.R93R NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 93 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCCCAGTGCCCCGAGCCCGCT 0.726000 3 11 0.115264 0.1166 1 1 0 ZNF391 346157 broad.mit.edu 37 6 27368981 27368981 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:27368981G>A ENST00000244576.4 + 3 1377 c.832G>A c.(832-834)Gag>Aag p.E278K NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 GAACCCCTATGAGTGCAGTGA 0.463000 9 41 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158913681 158913681 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:158913681A>T ENST00000368140.1 + 6 1349 c.1104A>T c.(1102-1104)aaA>aaT p.K368N PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.K368N|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K359N|PYHIN1_ENST00000392252.3_Missense_Mutation_p.K359N NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 368 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CCTGTGAAAAAGGAGATAAGC 0.373000 27 59 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6080816 6080816 + Missense_Mutation SNP T T A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:6080816T>A ENST00000199389.6 - 9 972 c.826A>T c.(826-828)Agc>Tgc p.S276C EIF2AK1_ENST00000536084.1_Missense_Mutation_p.S152C|EIF2AK1_ENST00000495565.1_5'UTR NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 276 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) ATGGATGAGCTGCTACTTTCA 0.393000 33 117 0 0 1 0 0 SRGAP2 23380 broad.mit.edu 37 1 206619613 206619613 + Silent SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:206619613C>G ENST00000414007.1 + 14 1647 c.1647C>G c.(1645-1647)gtC>gtG p.V549V SRGAP2_ENST00000419187.2_5'UTR|SRGAP2_ENST00000471256.1_3'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 689 Rho-GAP. 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) AGGGCCCTGTCTACAGCAGAG 0.582000 47 169 0 0 1 0 0 MYEF2 50804 broad.mit.edu 37 15 48443684 48443684 + Missense_Mutation SNP G G A rs80287989 by1000genomes TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:48443684G>A ENST00000324324.7 - 13 1571 c.1292C>T c.(1291-1293)tCc>tTc p.S431F MYEF2_ENST00000267836.6_Missense_Mutation_p.S431F NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 431 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TCTACCAAAGGAATCTCCAAA 0.388000 95 225 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60580202 60580202 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:60580202G>A ENST00000373886.3 + 20 2772 c.2768G>A c.(2767-2769)aGg>aAg p.R923K NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 923 SAM. multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TTTGGTGCCAGGAGGAAAATG 0.408000 11 107 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200137051 200137051 + Silent SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:200137051C>A ENST00000443023.1 - 10 3373 c.1908G>T c.(1906-1908)ctG>ctT p.L636L SATB2_ENST00000428695.1_Silent_p.L577L|SATB2_ENST00000417098.1_Silent_p.L695L|SATB2_ENST00000260926.5_Silent_p.L695L|SATB2_ENST00000457245.1_Silent_p.L695L Q9UPW6 SATB2_HUMAN SATB homeobox 2 695 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTGACTCGGTCAGCAGCTCCT 0.577000 18 115 1.33834e-09 1.4781e-09 1 1 0 DHX35 60625 broad.mit.edu 37 20 37657063 37657063 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr20:37657063G>T ENST00000252011.3 + 19 1837 c.1804G>T c.(1804-1806)Gac>Tac p.D602Y DHX35_ENST00000373323.4_Missense_Mutation_p.D571Y|DHX35_ENST00000373325.2_Missense_Mutation_p.D602Y NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 602 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CTATGTAGGTGACCCGGATCT 0.552000 33 114 4.16155e-14 4.84126e-14 1 1 0 ACAN 176 broad.mit.edu 37 15 89417256 89417256 + Splice_Site SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:89417256G>C ENST00000439576.2 + 17 7890 c.e17+1 ACAN_ENST00000559004.1_Splice_Site|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Splice_Site NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGCACAGACCGTGAGCATCAC 0.657000 4 52 0 0 1 0 0 C11orf35 256329 broad.mit.edu 37 11 555112 555112 + Splice_Site SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:555112C>A ENST00000329451.3 - 14 1836 c.e14-1 NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCGGCACACCTGGGGGGCGC 0.751000 8 19 5.18039e-06 5.52892e-06 1 1 0 CNTN4 152330 broad.mit.edu 37 3 3084693 3084693 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr3:3084693A>T ENST00000397461.1 + 21 2928 c.2544A>T c.(2542-2544)gaA>gaT p.E848D CNTN4_ENST00000358480.3_Missense_Mutation_p.E629D|CNTN4_ENST00000448906.2_Missense_Mutation_p.E520D|CNTN4_ENST00000397459.2_Missense_Mutation_p.E520D|CNTN4_ENST00000418658.1_Missense_Mutation_p.E848D|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.E848D NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 848 Fibronectin type-III 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ACAAAGAAGAAAATGCTAGAA 0.353000 4 42 0 0 1 0 0 PHACTR2 9749 broad.mit.edu 37 6 144033316 144033316 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:144033316G>A ENST00000427704.2 + 2 307 c.177G>A c.(175-177)tcG>tcA p.S59S PHACTR2_ENST00000305766.6_Silent_p.S59S|PHACTR2_ENST00000397980.3_Silent_p.S70S|PHACTR2_ENST00000440869.2_Silent_p.S70S|PHACTR2_ENST00000367582.3_Silent_p.S70S|PHACTR2_ENST00000367584.4_Silent_p.S127S NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 59 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) GAGAAACCTCGGCAGGTATGA 0.348000 25 66 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155157664 155157664 + Missense_Mutation SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr4:155157664A>G ENST00000357232.3 - 25 6774 c.6775T>C c.(6775-6777)Tac>Cac p.Y2259H NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2259 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCTTCTAAGTAAAAATGTCCC 0.383000 7 115 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40458300 40458300 + Silent SNP G G T rs141500114 TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:40458300G>T ENST00000345506.4 + 14 2157 c.1515G>T c.(1513-1515)ccG>ccT p.P505P STAT5A_ENST00000588868.1_Silent_p.P474P|STAT5A_ENST00000546010.2_Silent_p.P475P|STAT5A_ENST00000587646.1_5'UTR|STAT5A_ENST00000590949.1_Silent_p.P505P|STAT5A_ENST00000452307.2_Silent_p.P505P NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 505 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TGCTGTGGCCGCAGCTGTGTG 0.547000 20 61 7.92952e-12 8.956e-12 1 1 0 UBFD1 56061 broad.mit.edu 37 16 23574002 23574002 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:23574002G>A ENST00000395878.3 + 5 1068 c.687G>A c.(685-687)gtG>gtA p.V229V UBFD1_ENST00000567212.1_Silent_p.V220V|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Silent_p.V453V NM_019116.2 NP_061989.2 O14562 UBFD1_HUMAN ubiquitin family domain containing 1 229 endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GBM - Glioblastoma multiforme(48;0.0331) GAGGAAAAGTGAGACTCACCT 0.527000 24 63 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C A rs28934575 TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:7577548C>A ENST00000420246.2 - 7 865 c.733G>T c.(733-735)Ggc>Tgc p.G245C TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000269305.4_Missense_Mutation_p.G245C|TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000445888.2_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 46 1.36615e-20 1.64409e-20 1 1 0 PTPN21 11099 broad.mit.edu 37 14 88938785 88938785 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr14:88938785C>T ENST00000556564.1 - 15 2958 c.2674G>A c.(2674-2676)Gaa>Aaa p.E892K PTPN21_ENST00000328736.3_Missense_Mutation_p.E892K NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 892 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 ATTCCTTGTTCTAATCGTTGT 0.368000 12 36 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186158649 186158649 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:186158649G>T ENST00000271588.4 + 107 16776 c.16547G>T c.(16546-16548)tGc>tTc p.C5516F HMCN1_ENST00000367492.2_Missense_Mutation_p.C5399F NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5516 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTTAGGTTCTGCCTCAAGAAC 0.428000 29 83 5.77227e-19 6.8755e-19 1 1 0 XKR7 343702 broad.mit.edu 37 20 30556151 30556151 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr20:30556151G>T ENST00000217299.3 + 1 347 c.173G>T c.(172-174)tGc>tTc p.C58F NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 58 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CGGGACTGCTGCTGGGTGCTG 0.751000 9 30 0.00448238 0.00460103 1 1 0 SYCP1 6847 broad.mit.edu 37 1 115438112 115438112 + Silent SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:115438112A>G ENST00000369522.3 + 16 1542 c.1302A>G c.(1300-1302)gaA>gaG p.E434E SYCP1_ENST00000369518.1_Silent_p.E434E NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 434 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) TAGAACTTGAAGAATTGAAAA 0.274000 8 16 0 0 1 0 0 DDX25 29118 broad.mit.edu 37 11 125780305 125780305 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:125780305G>A ENST00000263576.6 + 7 709 c.554G>A c.(553-555)cGt>cAt p.R185H RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 185 Helicase ATP-binding. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) CAAACTGGCCGTGTGGTTGAG 0.478000 4 113 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964416 88964416 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:88964416G>A ENST00000333190.4 + 4 2729 c.2120G>A c.(2119-2121)aGa>aAa p.R707K NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 707 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGTTTGAGTAGATATTCTTCC 0.408000 HNSCC(36;0.09) 21 59 0 0 1 0 0 SRFBP1 153443 broad.mit.edu 37 5 121356179 121356179 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr5:121356179G>C ENST00000339397.4 + 6 821 c.749G>C c.(748-750)gGa>gCa p.G250A NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) AGTGATGGCGGAGAAGAATTT 0.413000 47 97 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128186 152128186 + Silent SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:152128186A>G ENST00000316073.3 - 3 1453 c.1389T>C c.(1387-1389)taT>taC p.Y463Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 463 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTCTGACCATAGTGGGAAC 0.512000 9 1156 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4934828 4934828 + Missense_Mutation SNP G G C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:4934828G>C ENST00000345988.2 - 22 3917 c.3828C>G c.(3826-3828)atC>atG p.I1276M PPL_ENST00000590782.2_Missense_Mutation_p.I1274M NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1276 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCAGGGCCTGGATTTCCTTTT 0.522000 58 192 0 0 1 0 0 POP4 10775 broad.mit.edu 37 19 30102828 30102828 + Missense_Mutation SNP G G T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:30102828G>T ENST00000585603.1 + 4 2646 c.344G>T c.(343-345)aGt>aTt p.S115I POP4_ENST00000221770.3_5'UTR|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Missense_Mutation_p.S34I O95707 RPP29_HUMAN processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 115 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) GACCTGTGCAGTGGGCTCAAG 0.488000 21 76 6.21321e-17 7.32571e-17 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 6 161 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515281 51515281 + Splice_Site SNP C C A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:51515281C>A ENST00000328188.1 + 1 0 c.e1-1 NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 ATGAGAAATACATGGAGAATA 0.269000 21 60 1.28384e-07 1.39583e-07 1 1 0 PCLO 27445 broad.mit.edu 37 7 82763692 82763692 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:82763692G>A ENST00000423517.2 - 3 3511 c.3174C>T c.(3172-3174)acC>acT p.T1058T PCLO_ENST00000333891.8_Silent_p.T1058T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1004 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGAGAGGACAGGTTGATTCTG 0.423000 5 27 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103191677 103191677 + Missense_Mutation SNP A A T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr7:103191677A>T ENST00000428762.1 - 41 6298 c.6139T>A c.(6139-6141)Ttc>Atc p.F2047I RELN_ENST00000343529.5_Missense_Mutation_p.F2047I|RELN_ENST00000424685.2_Missense_Mutation_p.F2047I NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2047 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) GTCGCCCCGAAGTCCCTTGAA 0.532000 4 54 0 0 1 0 0 SLC2A1 6513 broad.mit.edu 37 1 43395268 43395268 + Missense_Mutation SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:43395268T>C ENST00000426263.3 - 6 1041 c.863A>G c.(862-864)aAc>aGc p.N288S SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 288 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) ACTCACAGCGTTGATGCCAGA 0.602000 15 30 0 0 1 0 0 WASF3 10810 broad.mit.edu 37 13 27239176 27239176 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr13:27239176G>A ENST00000361042.4 + 4 370 c.145G>A c.(145-147)Gaa>Aaa p.E49K WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.E49K Q9UPY6 WASF3_HUMAN WAS protein family, member 3 49 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAAACATGCTGAAGACATATT 0.433000 15 37 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704314 56704314 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:56704314G>A ENST00000586855.2 - 2 421 c.108C>T c.(106-108)caC>caT p.H36H ZSCAN5B_ENST00000358992.3_Silent_p.H36H A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 36 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GGTTCCTGTCGTGATTTCCAA 0.562000 8 40 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8402701 8402701 + Missense_Mutation SNP C C G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:8402701C>G ENST00000360416.3 - 30 3976 c.3838G>C c.(3838-3840)Gag>Cag p.E1280Q MYH10_ENST00000396239.1_Missense_Mutation_p.E1270Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1265Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1249Q NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1249 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TGCTCAGACTCAGCCTTGACC 0.567000 43 58 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211464276 211464276 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:211464276C>T ENST00000233072.5 + 14 1736 c.1540C>T c.(1540-1542)Ctg>Ttg p.L514L CPS1_ENST00000451903.2_Silent_p.L63L|CPS1_ENST00000430249.2_Silent_p.L520L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 514 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCAGACAGCTCTGAACTGTGG 0.428000 25 85 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101096680 101096680 + Missense_Mutation SNP A A G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chrX:101096680A>G ENST00000537026.1 - 5 565 c.206T>C c.(205-207)gTc>gCc p.V69A NXF5_ENST00000361708.2_Missense_Mutation_p.V69A|NXF5_ENST00000473265.2_Missense_Mutation_p.V69A NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 69 RRM. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 CTTATAACTGACATCCTTCAA 0.498000 8 158 0 0 1 0 0 TAS1R3 83756 broad.mit.edu 37 1 1267740 1267740 + Missense_Mutation SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:1267740G>A ENST00000339381.5 + 3 861 c.829G>A c.(829-831)Gtg>Atg p.V277M NM_152228.1 NP_689414.1 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 277 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GTTCGCCTCCGTGCACGCCGC 0.672000 8 8 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103322355 103322355 + Silent SNP T T C TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:103322355T>C ENST00000233969.2 + 11 2170 c.2028T>C c.(2026-2028)ctT>ctC p.L676L NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 676 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 ATACGAAGCTTCCAGAAAAGC 0.308000 32 67 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116946 53116946 + Missense_Mutation SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:53116946C>T ENST00000597597.1 - 2 3125 c.872G>A c.(871-873)tGt>tAt p.C291Y ZNF83_ENST00000545872.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.C291Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000301096.3_Missense_Mutation_p.C291Y|ZNF83_ENST00000391789.4_Intron P51522 ZNF83_HUMAN zinc finger protein 83 291 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) ACACTCATTACATTTGTAAGG 0.403000 15 212 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr1:240255569_240255571delGGC ENST00000319653.9 + 1 390_392 c.160_162delGGC c.(160-162)del p.G59del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 59 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G197delG(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGGAgggggcggcggcggcg 0.665 8 14 --- --- --- --- ESPNL 339768 broad.mit.edu 37 2 239013483 239013483 + Splice_Site DEL G G - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr2:239013483delG ENST00000343063.3 + 3 935 c.672_splice c.e3+1 p.L224_splice ESPNL_ENST00000409169.1_Splice_Site_p.L224_splice NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 224 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) TCGTCTGGCTGGTAAGTGGGT 0.667 2 4 --- --- --- --- MARCH3 115123 broad.mit.edu 37 5 126250792 126250792 + Frame_Shift_Del DEL G G - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr5:126250792delG ENST00000308660.5 - 3 737 c.223delC c.(223-225)acfs p.H75fs MARCH3_ENST00000515241.1_Frame_Shift_Del_p.H75fs|MARCH3_ENST00000502289.1_5'UTR NM_178450.3 NP_848545.1 Q86UD3 MARH3_HUMAN membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase 75 endocytosis cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome ligase activity|zinc ion binding large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793) CTGCCCTCGTGGCAGATCCTG 0.597 8 26 --- --- --- --- CD2AP 23607 broad.mit.edu 37 6 47544293 47544295 + In_Frame_Del DEL CAG CAG - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr6:47544293_47544295delCAG ENST00000359314.5 + 7 1219_1221 c.763_765delCAG c.(763-765)del p.Q255del NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 255 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) ACCCAAAACTCAGAGTGTGGAGA 0.300 28 201 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971008 21971008 + Frame_Shift_Del DEL A A - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr9:21971008delA ENST00000579755.1 - 2 685 c.393delT c.(391-393)ccfs p.P131fs CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.P172fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.P131fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.L117fs*29(1)|p.0(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CTCCTCAGCCAGGTCCACGGG 0.726 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 18 33 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 16893336 16893336 + Frame_Shift_Del DEL C C - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:16893336delC ENST00000377833.4 - 60 9626 c.9561delG c.(9559-9561)tgfs p.W3187fs NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3187 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAATTATGATCCATACACAGT 0.388 26 101 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 17165674 17165675 + Frame_Shift_Ins INS - - T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr10:17165674_17165675insT ENST00000377833.4 - 5 466_467 c.401_402insA c.(400-402)agtfs p.S134fs CUBN_ENST00000377823.1_Frame_Shift_Ins_p.S134fs NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 134 EGF-like 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGCTGCAAACCTTTTTGTCAAC 0.446 7 30 --- --- --- --- OR5AP2 338675 broad.mit.edu 37 11 56409571 56409571 + Frame_Shift_Del DEL C C - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:56409571delC ENST00000544374.1 - 1 376 c.348delG c.(346-348)ggfs p.G116fs OR5AP2_ENST00000302981.1_Frame_Shift_Del_p.G115fs Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 AGCACTCAGTCCCCAGGAAGG 0.512 7 49 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61188974 61188983 + Frame_Shift_Del DEL GGAGGAGGTG GGAGGAGGTG - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr11:61188974_61188983delGGAGGAGGTG ENST00000340437.4 - 3 361_370 c.281_290delCACCTCCTCC c.(280-291)ctfs p.PPPP94fs CPSF7_ENST00000541963.1_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000394888.4_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.PPPP51fs NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 51 RRM. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding p.P53P(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 CTGGCGAACAGGAGGAGGTGGTTCAGTGCT 0.524 12 52 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 7 1048 --- --- --- --- APAF1 317 broad.mit.edu 37 12 99056538 99056538 + Frame_Shift_Del DEL G G - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr12:99056538delG ENST00000357310.1 + 7 1486 c.909delG c.(907-909)aafs p.K303fs APAF1_ENST00000339433.3_Frame_Shift_Del_p.K303fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K292fs|APAF1_ENST00000552268.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000551964.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000550527.1_Frame_Shift_Del_p.K292fs|APAF1_ENST00000333991.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000549007.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000547045.1_Frame_Shift_Del_p.K303fs NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 303 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) ATATGAAGAAGGCAGATTTGC 0.323 13 59 --- --- --- --- TMC3 342125 broad.mit.edu 37 15 81625365 81625366 + Frame_Shift_Ins INS - - T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr15:81625365_81625366insT ENST00000558726.1 - 22 2835_2836 c.2700_2701insA c.(2698-2703)aaatctfs p.S901fs TMC3_ENST00000359440.5_Frame_Shift_Ins_p.S900fs|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 900 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 ACATTTAGATGTTTTTTCTTGT 0.510 15 139 --- --- --- --- STX4 6810 broad.mit.edu 37 16 31045645 31045648 + Splice_Site DEL GAGT GAGT - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:31045645_31045648delGAGT ENST00000394998.1 + 4 568_569 c.226_splice c.e4+1 p.E75_splice STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Splice_Site_p.E77_splice NM_001272096.1 NP_001259025.1 Q12846 STX4_HUMAN syntaxin 4 77 intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity NS(2)|breast(1)|large_intestine(3)|lung(3) 9 TTCCCGAGGAGAGTGAGTGAAACC 0.598 32 122 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 7 35 --- --- --- --- LOC100294341 100294341 broad.mit.edu 37 17 43591984 43591985 + RNA INS - - G TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr17:43591984_43591985insG ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTGGGTCATGCGGAGCGAGTTT 0.411 7 66 --- --- --- --- ZNF573 126231 broad.mit.edu 37 19 38229927 38229927 + Frame_Shift_Del DEL A A - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:38229927delA ENST00000339503.4 - 8 1791 c.1290delT c.(1288-1290)cafs p.H430fs ZNF573_ENST00000590414.2_Frame_Shift_Del_p.H488fs|ZNF573_ENST00000392138.1_Frame_Shift_Del_p.H401fs|ZNF573_ENST00000357309.3_Frame_Shift_Del_p.H400fs|ZNF573_ENST00000536220.1_Frame_Shift_Del_p.H400fs NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 468 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) GAGTTTTCCGATGTTGAATAA 0.373 46 118 --- --- --- --- LILRB5 10990 broad.mit.edu 37 19 54754838 54754839 + Frame_Shift_Ins INS - - G rs11375503 TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:54754838_54754839insG ENST00000450632.1 - 13 1873_1874 c.1796_1797insC c.(1795-1797)cccfs p.P599fs LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 424 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGGTGGGGGTGGGGAGGCCTG 0.604 7 9 --- --- --- --- ZNF135 7694 broad.mit.edu 37 19 58573073 58573073 + Splice_Site DEL G G - TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19 1706456b-917f-4164-91b0-6d4fcf78c752 g.chr19:58573073delG ENST00000506786.1 + 3 587 c.34_splice c.e3+1 p.V11_splice ZNF135_ENST00000511556.1_Splice_Site_p.V53_splice|ZNF135_ENST00000401053.4_Splice_Site_p.V65_splice|ZNF135_ENST00000439855.2_Splice_Site_p.V53_splice|ZNF135_ENST00000359978.6_Splice_Site_p.V65_splice|ZNF135_ENST00000313434.5_Splice_Site_p.V53_splice B4DHH9 B4DHH9_HUMAN zinc finger protein 135 53 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) TGGTCTCTGTGGGTAAGGCCA 0.507 41 148 --- --- --- ---