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 ME1 4199 broad.mit.edu 37 6 84025070 84025070 + Nonsense_Mutation SNP A A C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:84025070A>C ENST00000369705.3 - 6 779 c.663T>G c.(661-663)taT>taG p.Y221* ME1_ENST00000543031.1_Nonsense_Mutation_p.Y146*|ME1_ENST00000541327.1_Nonsense_Mutation_p.Y55* NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 221 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) AAAAATCATCATATTCAGAAC 0.299000 18 95 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202232 248202232 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:248202232C>T ENST00000366479.2 + 1 759 c.663C>T c.(661-663)ctC>ctT p.L221L OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GCCGGGTTCTCCTTGCTGTCT 0.502000 35 228 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54952522 54952522 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:54952522C>T ENST00000273286.5 - 3 1164 c.1002G>A c.(1000-1002)gtG>gtA p.V334V CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Silent_p.V258V|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 334 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CTTTTTCTTCCACCTTCCCAG 0.507000 31 194 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546473 11546473 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:11546473G>A ENST00000389362.4 - 3 574 c.539C>T c.(538-540)cCa>cTa p.P180L 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) TGGTCCTTGTGGCTTTCCTGG 0.592000 58 370 0 0 1 0 0 AREG 374 broad.mit.edu 37 4 75314928 75314928 + Missense_Mutation SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:75314928T>C ENST00000395748.3 + 3 687 c.475T>C c.(475-477)Tgc>Cgc p.C159R AREG_ENST00000502307.1_Missense_Mutation_p.C159R|AREG_ENST00000511560.1_3'UTR|AREG_ENST00000264487.2_Missense_Mutation_p.C159R NM_001657.2 NP_001648.1 P15514 AREG_HUMAN amphiregulin 159 EGF-like. cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication cell surface|extracellular space|integral to membrane cytokine activity|growth factor activity lung(4) 4 Lung(101;0.196) TCACGGAGAATGCAAATATAT 0.338000 6 19 0 0 1 0 0 COQ2 27235 broad.mit.edu 37 4 84185424 84185424 + Silent SNP G G A rs6834269 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:84185424G>A ENST00000311469.4 - 7 1193 c.1194C>T c.(1192-1194)gtC>gtT p.V398V COQ2_ENST00000439031.2_Silent_p.V361V NM_015697.7 NP_056512.5 Q96H96 COQ2_HUMAN coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 348 glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrial membrane 4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1) 8 Hepatocellular(203;0.114) AATTCCCAAGGACAATCCCTA 0.323000 4 46 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31810301 31810301 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:31810301C>T ENST00000446923.2 + 7 2381 c.1990C>T c.(1990-1992)Cct>Tct p.P664S ZEB1_ENST00000542815.3_Missense_Mutation_p.P613S|ZEB1_ENST00000320985.10_Missense_Mutation_p.P680S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P681S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P660S NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 680 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TCTACAAAGTCCTTTGAAGAT 0.448000 9 74 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93026826 93026826 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:93026826G>A ENST00000523629.1 - 4 903 c.449C>T c.(448-450)aCc>aTc p.T150I RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T113I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T113I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T123I|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.T113I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T123I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T113I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T150I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T161I NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 150 TAFH. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAGAACGAGGGTGCGAACTCT 0.502000 14 96 0 0 1 0 0 TTC25 83538 broad.mit.edu 37 17 40095264 40095264 + RNA SNP A A G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:40095264A>G ENST00000591658.1 + 0 965 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) AAGCTGAGAAAGTGCTGAAGA 0.507000 6 12 0 0 1 0 0 BCL2L12 83596 broad.mit.edu 37 19 50173529 50173529 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:50173529C>T ENST00000246785.3 + 6 996 c.738C>T c.(736-738)ttC>ttT p.F246F BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Silent_p.F245F NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 246 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CCGACTCTTTCGCCCGCCTGG 0.731000 3 14 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73731413 73731413 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:73731413C>T ENST00000427855.1 + 22 3206 c.3104C>T c.(3103-3105)tCa>tTa p.S1035L PAPLN_ENST00000381166.3_Missense_Mutation_p.S1035L|PAPLN_ENST00000554301.1_Missense_Mutation_p.S1035L|PAPLN_ENST00000340738.5_Missense_Mutation_p.S1008L|PAPLN_ENST00000555445.1_Missense_Mutation_p.S1019L O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 1035 Ig-like C2-type 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) ATCCCCTCTTCACACCCACAG 0.657000 31 99 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27949342 27949342 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:27949342G>A ENST00000379992.2 - 6 1777 c.1328C>T c.(1327-1329)tCc>tTc p.S443F LINGO2_ENST00000308675.3_Missense_Mutation_p.S443F NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 443 Ig-like C2-type. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TGTCACCCAGGAAATCACAGG 0.532000 10 58 0 0 1 0 0 TTLL3 26140 broad.mit.edu 37 3 9862352 9862352 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:9862352G>A ENST00000383827.1 + 1 2297 c.16G>A c.(16-18)Gac>Aac p.D6N TTLL3_ENST00000455274.1_Missense_Mutation_p.D6N|TTLL3_ENST00000427853.3_Missense_Mutation_p.D6N|TTLL3_ENST00000547186.1_Missense_Mutation_p.D218N|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.D279N|TTLL3_ENST00000426895.4_Missense_Mutation_p.D361N|TTLL3_ENST00000397241.1_Missense_Mutation_p.D6N|TTLL3_ENST00000430793.1_Missense_Mutation_p.D6N Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 218 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) CATCGACAAGGACCTGGAGGC 0.592000 15 77 0 0 1 0 0 CABP5 56344 broad.mit.edu 37 19 48537553 48537553 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:48537553C>T ENST00000293255.2 - 5 545 c.415G>A c.(415-417)Ggg>Agg p.G139R NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 139 EF-hand 3. signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) AGCCGCTCCCCCAGGAGTCTC 0.537000 8 39 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84233586 84233586 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:84233586C>T ENST00000536636.1 + 3 771 c.426C>T c.(424-426)ttC>ttT p.F142F PRSS35_ENST00000369700.3_Silent_p.F142F NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 142 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) TAACCAATTTCCCTTTCAGCA 0.468000 18 108 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20568969 20568969 + Missense_Mutation SNP C C T rs141844605 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:20568969C>T ENST00000504154.1 + 27 3062 c.2810C>T c.(2809-2811)cCa>cTa p.P937L SLIT2_ENST00000273739.5_Missense_Mutation_p.P941L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P929L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P933L NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 937 EGF-like 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AATAGTGATCCAGTTGACTTT 0.383000 27 170 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28935868 28935868 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:28935868G>A ENST00000358201.4 - 2 718 c.130C>T c.(130-132)Cgg>Tgg p.R44W RABEP2_ENST00000357573.6_Missense_Mutation_p.R44W|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_Intron NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 44 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 AGCTCAGCCCGAAGCCGGCTG 0.652000 6 52 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895592 24895592 + Missense_Mutation SNP G G A rs146807462 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr13:24895592G>A ENST00000382071.2 + 4 773 c.688G>A c.(688-690)Gaa>Aaa p.E230K C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K|C1QTNF9-AS1_ENST00000449656.1_RNA P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 230 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) CCTGTATAACGAATTCAACCA 0.428000 21 193 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884615 24884615 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:24884615C>T ENST00000382554.3 + 9 3978 c.3660C>T c.(3658-3660)tcC>tcT p.S1220S NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1220 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AGCATTTTTCCCGCTGCATTG 0.632000 13 58 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138591807 138591807 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:138591807C>T ENST00000440172.1 - 6 3366 c.3318G>A c.(3316-3318)cgG>cgA p.R1106R KIAA1549_ENST00000242365.4_Silent_p.R1056R|KIAA1549_ENST00000422774.1_Silent_p.R1106R NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1106 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CCGGGCCCCGCCGAGGAGTCA 0.443000 O BRAF pilocytic astrocytoma 4 30 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480163 73480163 + Missense_Mutation SNP G G A rs140028668 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:73480163G>A ENST00000523207.1 + 2 782 c.194G>A c.(193-195)cGa>cAa p.R65Q NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 65 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GGGAAGCTTCGAGACTGCAAC 0.552000 14 78 0 0 1 0 0 SHC2 25759 broad.mit.edu 37 19 438991 438991 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:438991G>A ENST00000264554.6 - 3 578 c.579C>T c.(577-579)gtC>gtT p.V193V NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 193 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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) AGGATCCCCGGACGCCAGGCA 0.677000 3 5 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471424 146471424 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:146471424C>T ENST00000361727.3 + 2 675 c.159C>T c.(157-159)tcC>tcT p.S53S NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 53 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCTCCTCCTCCATCTCTGGTA 0.423000 HNSCC(39;0.1) 6 30 0 0 1 0 0 RNF19B 127544 broad.mit.edu 37 1 33402511 33402511 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:33402511G>A ENST00000373456.7 - 9 2094 c.2095C>T c.(2095-2097)Ccc>Tcc p.P699S RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.P698S NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 699 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGGGCTCTGGGGGTCGAGGGG 0.587000 28 104 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1617024 1617024 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr20:1617024C>T ENST00000381580.1 - 3 638 c.459G>A c.(457-459)ggG>ggA p.G153G SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000303415.3_Silent_p.G186G|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000216927.4_Silent_p.G186G|SIRPG_ENST00000381583.2_Silent_p.G186G Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 186 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 AGAGCTCATTCCCATTTTTGA 0.577000 16 99 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84118606 84118606 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:84118606G>A ENST00000372142.2 + 3 546 c.272G>A c.(271-273)gGa>gAa p.G91E NRG3_ENST00000556918.1_Missense_Mutation_p.G142E|NRG3_ENST00000404576.2_Missense_Mutation_p.G116E|NRG3_ENST00000404547.1_Missense_Mutation_p.G312E|NRG3_ENST00000372141.2_Missense_Mutation_p.G312E NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 312 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) ACCCTGACCGGATCCCATAAA 0.557000 15 56 0 0 1 0 0 C1orf85 112770 broad.mit.edu 37 1 156264705 156264705 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:156264705G>A ENST00000362007.1 - 2 249 c.223C>T c.(223-225)Ctg>Ttg p.L75L C1orf85_ENST00000368264.1_Intron|C1orf85_ENST00000472870.1_5'UTR NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 75 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) AGAGGCCCCAGGCTGCTCCAC 0.622000 7 100 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141771262 141771262 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:141771262C>T ENST00000389484.3 - 14 3214 c.2243G>A c.(2242-2244)gGa>gAa p.G748E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 748 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACATAATTTCCATGATGCGA 0.378000 TSP Lung(27;0.18) 16 90 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140640956 140640956 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:140640956C>T ENST00000509479.2 - 5 3794 c.2938G>A c.(2938-2940)Gga>Aga p.G980R MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 976 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TTGAATGGTCCCAATTCTCCA 0.577000 9 23 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347784 38347784 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:38347784C>T ENST00000273173.4 + 1 358 c.267C>T c.(265-267)ttC>ttT p.F89F SLC22A14_ENST00000448498.1_Silent_p.F89F NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 89 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CTGACCACTTCGTGTTCACAG 0.557000 19 77 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810809 7810809 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:7810809G>A ENST00000315599.7 - 4 365 c.343C>T c.(343-345)Cca>Tca p.P115S CD209_ENST00000315591.8_Missense_Mutation_p.P91S|CD209_ENST00000354397.6_Missense_Mutation_p.P115S|CD209_ENST00000601951.1_Missense_Mutation_p.P91S|CD209_ENST00000301357.8_Missense_Mutation_p.P71S|CD209_ENST00000601256.1_Missense_Mutation_p.P91S|CD209_ENST00000593660.1_Missense_Mutation_p.P91S|CD209_ENST00000602261.1_Missense_Mutation_p.P115S|CD209_ENST00000204801.8_Missense_Mutation_p.P71S|CD209_ENST00000593821.1_Missense_Mutation_p.P71S|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 115 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GATTTCTCTGGAAGCTCACCC 0.547000 29 185 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10296178 10296178 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:10296178C>T ENST00000403437.2 - 37 5527 c.5433G>A c.(5431-5433)ggG>ggA p.G1811G CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1811 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TCTGCTTCTTCCCACCCTTCA 0.567000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 25 165 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89068310 89068310 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:89068310C>T ENST00000251038.5 + 11 1622 c.1397C>T c.(1396-1398)tCa>tTa p.S466L ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000393514.5_Missense_Mutation_p.S441L|ZC3H14_ENST00000555900.1_Missense_Mutation_p.S168L|ZC3H14_ENST00000555755.1_Missense_Mutation_p.S466L|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000302216.8_Intron NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 466 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 GACACAAGATCATTTATTCTG 0.423000 23 88 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80646595 80646595 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:80646595C>T ENST00000466387.1 + 13 1883 c.1159C>T c.(1159-1161)Cac>Tac p.H387Y CTNNA2_ENST00000496558.1_Missense_Mutation_p.H387Y|CTNNA2_ENST00000343114.3_Missense_Mutation_p.H66Y|CTNNA2_ENST00000541047.1_Missense_Mutation_p.H387Y|CTNNA2_ENST00000540488.1_Missense_Mutation_p.H387Y|CTNNA2_ENST00000402739.4_Missense_Mutation_p.H387Y|CTNNA2_ENST00000361291.4_Missense_Mutation_p.H421Y P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 387 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AGTGATGGATCACATATCTGA 0.348000 14 76 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33292889 33292889 + Missense_Mutation SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:33292889T>C ENST00000280979.4 + 13 6040 c.5870T>C c.(5869-5871)gTt>gCt p.V1957A AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1957 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCCCAAGATGTTAGACATCTT 0.388000 20 82 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 90984815 90984815 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:90984815C>T ENST00000268182.5 + 8 851 c.727C>T c.(727-729)Ccg>Tcg p.P243S IQGAP1_ENST00000560738.1_Intron NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 243 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TTTGAAAAATCCGAATGCCAT 0.373000 10 76 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179593051 179593051 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:179593051C>T ENST00000589042.1 - 67 19724 c.19500G>A c.(19498-19500)atG>atA p.M6500I TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.M6183I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M5256I|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6183 Ig-like 46. 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) CCTTGCACTCCATATGAATAG 0.378000 7 35 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70900424 70900424 + Silent SNP C C G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:70900424C>G ENST00000355733.3 - 15 2220 c.1776G>C c.(1774-1776)ccG>ccC p.P592P ADD2_ENST00000407644.2_Intron|ADD2_ENST00000264436.3_Intron NM_017488.3 NP_059522.1 P35612 ADDB_HUMAN adducin 2 (beta) 0 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CGCACACGGCCGGACCAGAGC 0.542000 9 64 0 0 1 0 0 TTF1 7270 broad.mit.edu 37 9 135263535 135263535 + Missense_Mutation SNP A A G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:135263535A>G ENST00000334270.2 - 8 2342 c.2303T>C c.(2302-2304)cTt>cCt p.L768P NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 768 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CCTTTCAATAAGGCTGACCTT 0.433000 6 71 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34002635 34002635 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:34002635G>A ENST00000373381.4 - 62 10042 c.9866C>T c.(9865-9867)tCt>tTt p.S3289F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3145 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTAGCCCTGAGAATTGTTCTG 0.517000 13 77 0 0 1 0 0 LOXL4 84171 broad.mit.edu 37 10 100017756 100017756 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:100017756C>T ENST00000260702.3 - 7 1237 c.1087G>A c.(1087-1089)Ggg>Agg p.G363R NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 363 SRCR 3. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) AGCCGGGCCCCAAAGAGGGCC 0.642000 12 68 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38951118 38951118 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:38951118C>T ENST00000355481.4 + 20 2595 c.2464C>T c.(2464-2466)Ctt>Ttt p.L822F RYR1_ENST00000360985.3_Missense_Mutation_p.L822F|RYR1_ENST00000359596.3_Missense_Mutation_p.L822F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 822 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCGACTCCATCTTGAACCCAT 0.642000 17 100 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190585360 190585360 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:190585360C>T ENST00000520309.1 + 12 2570 c.2482C>T c.(2482-2484)Ctg>Ttg p.L828L ANKAR_ENST00000438402.2_Silent_p.L828L|ANKAR_ENST00000431575.2_Silent_p.L757L|ANKAR_ENST00000313581.4_Silent_p.L828L|ANKAR_ENST00000281412.6_Silent_p.L592L NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 828 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AATCCCAAGCCTGATAAATCT 0.284000 18 87 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13762882 13762882 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:13762882C>T ENST00000265104.4 - 60 10334 c.10230G>A c.(10228-10230)acG>acA p.T3410T DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3410 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCATAGCTTTCGTCCAGGAAC 0.453000 Kartagener syndrome 14 74 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158624447 158624447 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:158624447G>A ENST00000368148.3 - 21 3170 c.2990C>T c.(2989-2991)aCc>aTc p.T997I SPTA1_ENST00000368147.3_Missense_Mutation_p.T997I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 997 SH3. 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) TTTCTTCATGGTGACTTCTCG 0.468000 26 63 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33879634 33879634 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr20:33879634G>A ENST00000374408.3 - 1 570 c.474C>T c.(472-474)atC>atT p.I158I NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 158 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCAGGTCCTTGATGTTCTTGG 0.617000 26 75 0 0 1 0 0 APOA1 335 broad.mit.edu 37 11 116707050 116707050 + Missense_Mutation SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:116707050T>C ENST00000236850.4 - 4 643 c.278A>G c.(277-279)cAg>cGg p.Q93R APOA1_ENST00000375323.1_Missense_Mutation_p.Q93R|APOA1_ENST00000375329.2_Missense_Mutation_p.Q71R|APOA1_ENST00000359492.2_Missense_Mutation_p.Q93R|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375320.1_Missense_Mutation_p.Q93R NM_000039.1 NP_000030.1 P02647 APOA1_HUMAN apolipoprotein A-I 93 10 X approximate tandem repeats. Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2) 9 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCAGAACTCCTGGGTCACAGG 0.587000 11 75 0 0 1 0 0 ANAPC7 51434 broad.mit.edu 37 12 110812092 110812092 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:110812092C>T ENST00000455511.3 - 11 1657 c.1657G>A c.(1657-1659)Gag>Aag p.E553K ANAPC7_ENST00000481473.1_5'UTR NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 553 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 TCCTCCTTCTCCATCTTCTGC 0.567000 8 46 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129417 6129417 + Nonsense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:6129417C>T ENST00000316529.3 + 1 504 c.409C>T c.(409-411)Cag>Tag p.Q137* RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGCCCTCTTCAGTACCCCTC 0.488000 13 114 0 0 1 0 0 SYN1 6853 broad.mit.edu 37 X 47434645 47434645 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:47434645C>T ENST00000295987.7 - 10 1311 c.1187G>A c.(1186-1188)gGt>gAt p.G396D SYN1_ENST00000340666.4_Missense_Mutation_p.G396D NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 396 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 CTGGTGGTCACCAATGAGCGG 0.627000 8 9 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167016129 167016129 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:167016129C>T ENST00000392766.2 - 18 2183 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K ZBBX_ENST00000392764.1_Missense_Mutation_p.E586K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E615K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E615K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E615K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 615 intracellular zinc ion binding p.E615Q(2) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTGTTGCATTCTAAACGATGA 0.333000 20 90 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378093 19378093 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:19378093G>A ENST00000550708.1 + 1 572 c.500G>A c.(499-501)gGa>gAa p.G167E NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGTTTGTGGATTTCTGTGG 0.488000 25 371 0 0 1 0 0 SLC25A19 60386 broad.mit.edu 37 17 73274394 73274394 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:73274394G>A ENST00000402418.3 - 4 1391 c.482C>T c.(481-483)gCc>gTc p.A161V SLC25A19_ENST00000375261.4_Missense_Mutation_p.A104V|SLC25A19_ENST00000320362.3_Missense_Mutation_p.A161V|SLC25A19_ENST00000580994.1_Missense_Mutation_p.A161V|SLC25A19_ENST00000442286.2_Missense_Mutation_p.A161V|SLC25A19_ENST00000416858.2_Missense_Mutation_p.A161V Q9HC21 TPC_HUMAN solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 161 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) GGTCCCCACGGCGTGGCGCAG 0.562000 17 102 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151171225 151171225 + Nonsense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:151171225C>T ENST00000282466.3 - 3 661 c.662G>A c.(661-663)tGg>tAg p.W221* NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 221 LRRCT. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATCACAGGTCCATGGGTTTCC 0.428000 21 105 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284299 159284299 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:159284299G>A ENST00000332217.5 - 1 150 c.151C>T c.(151-153)Cgc>Tgc p.R51C NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TGGTCCAGGCGAATAATGGTC 0.478000 50 151 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45795725 45795725 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr21:45795725C>T ENST00000397928.1 + 6 1226 c.781C>T c.(781-783)Ccc>Tcc p.P261S TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.P261S|TRPM2_ENST00000300482.5_Missense_Mutation_p.P261S|TRPM2_ENST00000397932.2_Missense_Mutation_p.P261S NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 261 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GGGCAGCTTCCCCGCCGAGTA 0.607000 4 38 0 0 1 0 0 CLCA3P 9629 broad.mit.edu 37 1 87102522 87102522 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:87102522G>A ENST00000456587.1 - 0 294 CLCA3P_ENST00000466454.1_RNA CTCCGGTGGGGAGTATTTGAT 0.368000 17 97 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179603690 179603690 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:179603690C>T ENST00000444136.1 + 8 1475 c.1225C>T c.(1225-1227)Cct>Tct p.P409S TDRD5_ENST00000367614.1_Missense_Mutation_p.P409S|TDRD5_ENST00000294848.8_Missense_Mutation_p.P409S NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 409 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 ATGGAATTGCCCTTCAAAAAA 0.413000 46 127 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83857207 83857207 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:83857207G>A ENST00000340417.3 - 11 2149 c.1772C>T c.(1771-1773)tCt>tTt p.S591F LIN54_ENST00000506560.1_Missense_Mutation_p.S502F|LIN54_ENST00000505397.1_Missense_Mutation_p.S591F|LIN54_ENST00000446851.2_Missense_Mutation_p.S370F|LIN54_ENST00000442461.2_Missense_Mutation_p.S370F|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.S502F|LIN54_ENST00000510557.1_Missense_Mutation_p.S370F NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 591 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.S591Y(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) ACGTCGATCAGATTCTCCCTC 0.403000 12 99 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 65 201 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32233067 32233067 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr22:32233067C>T ENST00000400246.1 + 26 2422 c.2280C>T c.(2278-2280)ttC>ttT p.F760F DEPDC5_ENST00000535622.1_Silent_p.F682F|DEPDC5_ENST00000400248.1_Silent_p.F751F|DEPDC5_ENST00000382105.2_Silent_p.F682F|DEPDC5_ENST00000400249.2_Silent_p.F751F|DEPDC5_ENST00000266091.3_Silent_p.F760F|DEPDC5_ENST00000382111.2_Silent_p.F760F|DEPDC5_ENST00000382112.3_Silent_p.F751F O75140 DEPD5_HUMAN DEP domain containing 5 751 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CCGACTACTTCCCTGACCGCC 0.557000 22 60 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89670141 89670141 + Nonsense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:89670141C>T ENST00000264344.5 - 17 2330 c.2123G>A c.(2122-2124)tGg>tAg p.W708* FAM13A_ENST00000513837.1_Nonsense_Mutation_p.W354*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.W382*|FAM13A_ENST00000508369.1_Nonsense_Mutation_p.W382*|FAM13A_ENST00000511976.1_Nonsense_Mutation_p.W294*|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.W368* NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 708 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GTCATTTGTCCATTTCAGAAC 0.468000 56 263 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10775926 10775926 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:10775926C>T ENST00000283025.2 - 4 858 c.787G>A c.(787-789)Gat>Aat p.D263N NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 263 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 CACTTCTCATCGATACACTGG 0.537000 21 128 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19451521 19451521 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:19451521C>T ENST00000396229.2 + 3 910 c.161C>T c.(160-162)cCa>cTa p.P54L TMC5_ENST00000542583.2_Missense_Mutation_p.P54L|TMC5_ENST00000541464.1_Missense_Mutation_p.P54L|TMC5_ENST00000381414.4_Missense_Mutation_p.P54L NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 54 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AGGAGCAATCCATACTCTGTA 0.498000 18 98 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52474019 52474019 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:52474019G>A ENST00000231721.2 - 11 1238 c.1239C>T c.(1237-1239)ctC>ctT p.L413L NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 413 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GCCAGAACATGAGGGGGTGGG 0.642000 20 73 0 0 1 0 0 C9orf173 441476 broad.mit.edu 37 9 140146528 140146528 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:140146528C>T ENST00000388931.3 + 3 370 c.344C>T c.(343-345)tCc>tTc p.S115F C9orf173_ENST00000412566.1_Missense_Mutation_p.S115F NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1 NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1 Q8N7X2 CI173_HUMAN chromosome 9 open reading frame 173 115 kidney(1)|large_intestine(1)|lung(5)|pancreas(1) 8 CCGAGCCCGTCCGTACGAGAG 0.672000 9 40 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45284596 45284596 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:45284596C>T ENST00000270279.3 + 3 696 c.633C>T c.(631-633)ttC>ttT p.F211F CBLC_ENST00000341505.4_Silent_p.F211F NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 211 Cbl-PTB.|EF-hand-like. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) TCTTCGAGTTCGACGTCTTCA 0.612000 M AML 10 78 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 107037521 107037521 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:107037521G>A ENST00000273980.4 - 25 2697 c.2250C>T c.(2248-2250)atC>atT p.I750I TBCK_ENST00000361687.4_Silent_p.I687I|TBCK_ENST00000394708.2_Silent_p.I750I|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394706.3_Silent_p.I711I|TBCK_ENST00000432496.2_Silent_p.I750I Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 750 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 CATTTAATGGGATGGATTCTC 0.353000 12 46 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108868931 108868931 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:108868931C>T ENST00000376700.1 + 2 283 c.283C>T c.(283-285)Ccc>Tcc p.P95S SULT1C3_ENST00000329106.2_Missense_Mutation_p.P95S Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 95 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 ACTGAAATTTCCCCATAAAGA 0.398000 10 60 0 0 1 0 0 THAP2 83591 broad.mit.edu 37 12 72070869 72070869 + Missense_Mutation SNP C C A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:72070869C>A ENST00000308086.2 + 3 2169 c.668C>A c.(667-669)aCc>aAc p.T223N RP11-293I14.2_ENST00000548802.1_Intron NM_031435.3 NP_113623.1 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated protein 2 223 nucleolus DNA binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 10 CTAAAACAGACCAAGAGTACC 0.343000 10 47 1.58986e-06 1.61647e-06 1 1 0 COPG1 22820 broad.mit.edu 37 3 128987354 128987354 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:128987354C>T ENST00000314797.6 + 17 1769 c.1665C>T c.(1663-1665)atC>atT p.I555I NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 555 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity CTGTGTCCATCCCTGGTCTGG 0.582000 13 50 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16863164 16863164 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:16863164C>T ENST00000355661.3 - 9 812 c.802G>A c.(802-804)Gag>Aag p.E268K PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E268K|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E268K Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 268 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TTCATGTCCTCCTGGGTGTCG 0.592000 12 80 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944143 55944143 + Missense_Mutation SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:55944143T>C ENST00000312298.1 + 1 50 c.50T>C c.(49-51)tTg>tCg p.L17S NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) CTTTTGGGATTGACAGATCAT 0.358000 34 164 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137703363 137703363 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:137703363G>A ENST00000371817.3 + 46 4022 c.3608G>A c.(3607-3609)cGg>cAg p.R1203Q NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1203 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCGGGGCCTCGGGGCCAGCAG 0.652000 OREG0019605 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 16 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55439129 55439129 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:55439129G>A ENST00000588756.1 - 12 3311 c.2825C>T c.(2824-2826)tCc>tTc p.S942F NLRP7_ENST00000328092.5_Missense_Mutation_p.S914F|NLRP7_ENST00000340844.2_Intron|NLRP7_ENST00000448121.2_Missense_Mutation_p.S914F|NLRP7_ENST00000590030.1_Intron|NLRP7_ENST00000446217.1_Missense_Mutation_p.S970F|NLRP7_ENST00000592784.1_Missense_Mutation_p.S942F Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 0 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGGCATGAGGGAGCAGCTCCA 0.517000 14 123 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52394203 52394203 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:52394203G>A ENST00000354957.3 - 5 1470 c.1186C>T c.(1186-1188)Cac>Tac p.H396Y CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.H368Y NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TCTCCTGAGTGAATTTTCTGA 0.443000 40 143 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196837173 196837173 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:196837173C>T ENST00000312428.6 - 16 1951 c.1851G>A c.(1849-1851)gtG>gtA p.V617V NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 617 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CAGTTACCTCCACTTTCTGAA 0.408000 11 79 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154159698 154159698 + Missense_Mutation SNP G G C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:154159698G>C ENST00000360256.4 - 14 2567 c.2367C>G c.(2365-2367)gaC>gaG p.D789E NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 789 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAAACCAAGGGTCAGTCTTCT 0.428000 43 107 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164772993 164772993 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:164772993C>T ENST00000264382.3 - 13 1563 c.1501G>A c.(1501-1503)Gga>Aga p.G501R NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 501 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATCCAAAGTCCATCATATTGC 0.328000 HNSCC(35;0.089) 18 72 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90136492 90136492 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:90136492C>T ENST00000405460.2 + 78 16805 c.16709C>T c.(16708-16710)cCt>cTt p.P5570L GPR98_ENST00000425867.2_Missense_Mutation_p.P1231L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5570 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTCTTTGAACCTGGCCAGAGA 0.418000 25 127 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23894592 23894592 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:23894592C>T ENST00000355349.3 - 21 2484 c.2322G>A c.(2320-2322)gaG>gaA p.E774E NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 774 Myosin head-like. E -> V (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCCTCATTTCCTCCAGCAGCC 0.587000 6 48 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1717360 1717360 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:1717360C>T ENST00000397412.3 + 17 3160 c.3061C>T c.(3061-3063)Cct>Tct p.P1021S LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P1018S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P1021S|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.P399S Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1021 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 TGTCAGCATCCCTTCGAGGCC 0.627000 4 42 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116975512 116975512 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:116975512G>A ENST00000355044.3 + 9 1532 c.1406G>A c.(1405-1407)gGc>gAc p.G469D NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 469 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GGTGGATATGGCCATACTAGT 0.333000 5 41 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137671975 137671975 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:137671975G>A ENST00000371817.3 + 28 2827 c.2413G>A c.(2413-2415)Ggc>Agc p.G805S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 805 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGGTCTGAAGGGCACAAAGGG 0.592000 19 111 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21228996 21228996 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:21228996C>T ENST00000233242.1 - 26 10871 c.10744G>A c.(10744-10746)Gaa>Aaa p.E3582K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3582 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) CTTGTATGTTCTCCGTTGGTG 0.483000 7 66 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17428260 17428260 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:17428260C>T ENST00000302539.4 - 26 3366 c.3241G>A c.(3241-3243)Gtc>Atc p.V1081I ABCC8_ENST00000389817.3_Missense_Mutation_p.V1080I NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1080 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) ACAGACGTGACGAGGCACAGC 0.587000 9 70 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926815 22926815 + Nonsense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:22926815C>T ENST00000261374.3 + 2 1470 c.1036C>T c.(1036-1038)Cga>Tga p.R346* NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 346 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) AGACCAGCTCCGAGAATTTTA 0.443000 39 191 0 0 1 0 0 TTF1 7270 broad.mit.edu 37 9 135277532 135277532 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:135277532G>A ENST00000334270.2 - 2 716 c.677C>T c.(676-678)tCc>tTc p.S226F NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 226 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CCGGTTACTGGACTTTTTCTT 0.502000 8 46 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6651132 6651132 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:6651132G>A ENST00000299441.3 - 11 5217 c.4806C>T c.(4804-4806)tcC>tcT p.S1602S NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1602 Cadherin 15. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCGCACCACGGACAGCGCTC 0.652000 7 31 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879284 144879284 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:144879284G>A ENST00000369359.4 - 30 4612 c.4574C>T c.(4573-4575)tCg>tTg p.S1525L PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1389L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1389L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1525L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1345L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1389 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CAGACTAGACGAATAATCACT 0.517000 T PDGFRB MPD 33 226 0 0 1 0 0 COQ3 51805 broad.mit.edu 37 6 99817684 99817684 + Missense_Mutation SNP A A G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:99817684A>G ENST00000254759.3 - 7 926 c.902T>C c.(901-903)gTt>gCt p.V301A COQ3_ENST00000369240.1_Missense_Mutation_p.V73A|COQ3_ENST00000369242.1_Missense_Mutation_p.V73A NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 301 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) CACTGTTTGAACTGACAGACC 0.348000 22 119 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99799824 99799824 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:99799824C>T ENST00000426455.1 + 24 2831 c.2424C>T c.(2422-2424)ctC>ctT p.L808L STAG3_ENST00000317296.5_Silent_p.L808L|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000394018.2_Silent_p.L750L Q9UJ98 STAG3_HUMAN stromal antigen 3 808 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATCTACTTCTCATCTTTAGCC 0.428000 41 201 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24833041 24833041 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:24833041G>A ENST00000376451.2 + 14 4151 c.3891G>A c.(3889-3891)ctG>ctA p.L1297L KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.L1614L Q5T5P2 SKT_HUMAN KIAA1217 1614 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 ATGGCACCCTGAAACAGCACA 0.512000 15 70 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44255445 44255445 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:44255445G>A ENST00000371505.4 - 2 240 c.118C>T c.(118-120)Cct>Tct p.P40S TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 40 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GTGATTGAAGGCTTTGAGAGC 0.557000 13 66 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61513264 61513264 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr20:61513264G>A ENST00000266070.4 - 16 4369 c.4044C>T c.(4042-4044)acC>acT p.T1348T DIDO1_ENST00000395343.1_Silent_p.T1348T NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1348 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCTCTGCTGTGGTTTTGGGCT 0.577000 20 110 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99312238 99312238 + Missense_Mutation SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:99312238T>C ENST00000336374.2 - 8 740 c.738A>G c.(736-738)atA>atG p.I246M NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 246 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TTAGAAAACTTATAACTTTTC 0.333000 12 72 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4928871 4928871 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:4928871G>A ENST00000359350.4 + 1 272 c.272G>A c.(271-273)gGa>gAa p.G91E MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AATGCCATGGGAATTTCACCT 0.448000 20 129 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23316063 23316063 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:23316063G>A ENST00000560464.1 - 0 2876 TAAAGTCTTGGTGGCTTCACT 0.498000 16 112 0 0 1 0 0 LOXL1 4016 broad.mit.edu 37 15 74239560 74239560 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:74239560C>T ENST00000261921.7 + 4 1828 c.1502C>T c.(1501-1503)aCc>aTc p.T501I NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 501 Lysyl-oxidase like. protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 ACCTCTCATACCCAGGTTGGG 0.612000 7 60 0 0 1 0 0 ANKRD45 339416 broad.mit.edu 37 1 173596225 173596225 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:173596225C>T ENST00000333279.2 - 4 630 c.570G>A c.(568-570)ggG>ggA p.G190G NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 206 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 TAAGGAGTTTCCCTGATCCCT 0.353000 21 145 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183099217 183099217 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:183099217C>T ENST00000435564.1 - 4 607 c.407G>A c.(406-408)cGa>cAa p.R136Q PDE1A_ENST00000410103.1_Missense_Mutation_p.R136Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.R120Q|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.R136Q|PDE1A_ENST00000351439.5_Missense_Mutation_p.R120Q|PDE1A_ENST00000331935.6_Missense_Mutation_p.R136Q|PDE1A_ENST00000536095.1_Missense_Mutation_p.R32Q|PDE1A_ENST00000346717.4_Missense_Mutation_p.R102Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.R136Q NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 136 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) ATATGTTTTTCGGTACATTCT 0.269000 12 81 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52257502 52257502 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:52257502G>A ENST00000597542.1 - 9 1859 c.902C>T c.(901-903)cCc>cTc p.P301L TLR9_ENST00000494383.1_Silent_p.S430S|TLR9_ENST00000360658.2_Missense_Mutation_p.P277L Q9NR96 TLR9_HUMAN toll-like receptor 9 277 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GAAGGTATCGGGATGTAGCTG 0.617000 8 39 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 621259 621259 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:621259G>A ENST00000588649.2 - 10 2523 c.2439C>T c.(2437-2439)ttC>ttT p.F813F NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 813 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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) CCAGGTGGTTGAAGTGCGGCG 0.711000 4 20 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423569 26423569 + Silent SNP C C A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr22:26423569C>A ENST00000335473.7 + 43 7879 c.7629C>A c.(7627-7629)ccC>ccA p.P2543P MYO18B_ENST00000407587.2_Silent_p.P2544P|MYO18B_ENST00000536101.1_Silent_p.P2543P NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2543 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAACGTCCCCCGAGCGGAGAG 0.552000 7 18 2.0095e-06 2.04028e-06 1 1 0 TGM5 9333 broad.mit.edu 37 15 43525827 43525827 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:43525827G>A ENST00000220420.5 - 12 1941 c.1934C>T c.(1933-1935)cCc>cTc p.P645L TGM5_ENST00000349114.4_Missense_Mutation_p.P563L NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 645 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CTCCGAGAGGGGGTTTGAAAA 0.502000 13 65 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129679332 129679332 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:129679332G>A ENST00000358303.4 - 4 549 c.465C>T c.(463-465)ttC>ttT p.F155F ZC3HC1_ENST00000360708.5_Silent_p.F155F|ZC3HC1_ENST00000311873.5_Silent_p.F134F|ZC3HC1_ENST00000481503.1_Silent_p.F155F NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 155 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) GCCAGAAACAGAACTTCTCAT 0.393000 6 56 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86228062 86228062 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:86228062C>T ENST00000394518.2 + 16 5342 c.5247C>T c.(5245-5247)ttC>ttT p.F1749F AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000361243.2_Silent_p.F1753F|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1749 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GTCGTACATTCAGCTACATCA 0.408000 31 149 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57192207 57192207 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:57192207C>T ENST00000343433.6 - 16 1923 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 615 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TCTTTTTTTTCCTTTGGTGTC 0.353000 40 98 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41323714 41323714 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:41323714G>A ENST00000551295.2 + 7 730 c.613G>A c.(613-615)Gac>Aac p.D205N CNTN1_ENST00000348761.2_Missense_Mutation_p.D194N|CNTN1_ENST00000360099.3_Missense_Mutation_p.D205N|CNTN1_ENST00000347616.1_Missense_Mutation_p.D205N|CNTN1_ENST00000547849.1_Missense_Mutation_p.D205N|CNTN1_ENST00000547702.1_Missense_Mutation_p.D205N NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 205 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGAGGCTTCCGACAAAGGCAA 0.388000 26 152 0 0 1 0 0 LMAN2 10960 broad.mit.edu 37 5 176764726 176764726 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:176764726G>A ENST00000303127.7 - 4 698 c.494C>T c.(493-495)cCc>cTc p.P165L LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Missense_Mutation_p.P165L NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 165 Carbohydrate binding (By similarity).|L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCATCATTGGGGTAGGTGTC 0.537000 9 22 0 0 1 0 0 IFIT3 3437 broad.mit.edu 37 10 91099395 91099395 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:91099395C>T ENST00000371818.4 + 2 1163 c.983C>T c.(982-984)cCt>cTt p.P328L LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.P328L|LIPA_ENST00000487618.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 328 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 GGACTGAATCCTCTGAATGCA 0.418000 12 95 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919445 48919445 + Missense_Mutation SNP G G A rs140344146 by1000genomes TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:48919445G>A ENST00000310194.1 + 1 31 c.31G>A c.(31-33)Gag>Aag p.E11K OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CACCATCACCGAGTTCCTCCT 0.493000 25 138 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151163907 151163907 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:151163907C>T ENST00000282466.3 - 4 3861 c.3862G>A c.(3862-3864)Gag>Aag p.E1288K NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1288 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AAGGGAAGCTCCTTCTTTGTT 0.423000 36 185 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612942 179612942 + Missense_Mutation SNP A A G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:179612942A>G ENST00000360870.5 - 46 14407 c.14185T>C c.(14185-14187)Tat>Cat p.Y4729H TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 840 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATTCACTATAGATTTCTTCA 0.343000 13 58 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152697632 152697632 + Nonsense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:152697632G>A ENST00000367255.5 - 58 9809 c.9208C>T c.(9208-9210)Cga>Tga p.R3070* SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R3077* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3070 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAGGCCTTTCGAAATCTTTGC 0.388000 HNSCC(10;0.0054) 18 57 0 0 1 0 0 PPBPP2 10895 broad.mit.edu 37 4 74919860 74919860 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:74919860G>A ENST00000513150.1 - 0 1256 NR_026769.1 CTGCAAGAGAGAATAGAATTA 0.448000 6 24 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49740122 49740122 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:49740122C>T ENST00000327697.6 + 20 1830 c.1686C>T c.(1684-1686)atC>atT p.I562I RNF123_ENST00000432042.1_Silent_p.I416I NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 562 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) ACCGGCTGATCTCTGCCCTGC 0.562000 35 226 0 0 1 0 0 AC096579.13 0 broad.mit.edu 37 2 89156773 89156773 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:89156773G>A ENST00000452230.1 - 0 39 IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA TGAGCTGGAGGACCGCAATAG 0.527000 3 8 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40398385 40398385 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:40398385G>A ENST00000221347.6 - 14 6589 c.6582C>T c.(6580-6582)ttC>ttT p.F2194F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2194 VWFD 5. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCAGGCGCACGAAGCTGTCCC 0.682000 16 42 0 0 1 0 0 SYNPO 11346 broad.mit.edu 37 5 150029714 150029714 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:150029714C>T ENST00000394243.1 + 3 2983 c.2609C>T c.(2608-2610)tCc>tTc p.S870F SYNPO_ENST00000519664.1_Missense_Mutation_p.S626F|SYNPO_ENST00000307662.4_Missense_Mutation_p.S626F|SYNPO_ENST00000522122.1_Missense_Mutation_p.S870F NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 870 Pro-rich. positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCTACACCTCCCCCGGCCAG 0.706000 24 96 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27017171 27017171 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:27017171G>A ENST00000314616.6 + 26 3697 c.3414G>A c.(3412-3414)cgG>cgA p.R1138R SUPT6H_ENST00000347486.4_Silent_p.R1138R NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1138 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) AGGACCTCCGGACAGCCTACC 0.473000 26 94 0 0 1 0 0 IGHV1-3 28473 broad.mit.edu 37 14 106471457 106471457 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:106471457G>A ENST00000390595.2 - 0 181 GCTAGTGAAGGTGTATCCAGA 0.547000 17 144 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143056427 143056427 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:143056427G>A ENST00000409408.1 - 3 1884 c.176C>T c.(175-177)tCa>tTa p.S59L FAM131B_ENST00000409222.3_Missense_Mutation_p.S59L|FAM131B_ENST00000443739.2_Missense_Mutation_p.S87L|FAM131B_ENST00000409578.1_Missense_Mutation_p.S75L|FAM131B_ENST00000409346.1_Missense_Mutation_p.S59L Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 59 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) ACCTGAGAATGATGACTTGGC 0.502000 3 17 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745193 140745193 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:140745193C>T ENST00000518069.1 + 1 1296 c.1296C>T c.(1294-1296)ctC>ctT p.L432L PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCGCCCCTCTCTACAGAAA 0.448000 25 96 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54364889 54364889 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:54364889G>A ENST00000306888.2 - 4 860 c.609C>T c.(607-609)gtC>gtT p.V203V FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Silent_p.V299V|LNX1-AS1_ENST00000502373.1_RNA NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 299 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TAATGATATGGACCAGTGGGG 0.493000 9 51 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109959293 109959293 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:109959293C>T ENST00000342494.3 + 21 2896 c.2301C>T c.(2299-2301)atC>atT p.I767I UBE3B_ENST00000434735.2_Silent_p.I767I NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 767 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CATCCTACATCCATGAGAATT 0.493000 9 47 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39112055 39112055 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr22:39112055C>T ENST00000216044.5 + 3 681 c.448C>T c.(448-450)Cgg>Tgg p.R150W NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 150 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) TTACCTGGTCCGGAAACGAGT 0.582000 5 23 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77359804 77359804 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:77359804C>T ENST00000282849.5 - 13 2409 c.1991G>A c.(1990-1992)cGt>cAt p.R664H NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 664 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GAACCATCCACGGAAAGGTTT 0.388000 17 79 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57921906 57921906 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:57921906G>A ENST00000564448.1 - 32 3357 c.3297C>T c.(3295-3297)acC>acT p.T1099T CNGB1_ENST00000251102.8_Silent_p.T1105T Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1105 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 AGAGCTTTGGGGTGCCCGCCC 0.582000 11 89 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179720083 179720083 + Silent SNP C C T rs76860661 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:179720083C>T ENST00000420890.2 - 19 3168 c.3051G>A c.(3049-3051)gtG>gtA p.V1017V CCDC141_ENST00000295723.5_Silent_p.V442V NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 442 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCTCTTCTATCACCTCCTGGA 0.358000 13 60 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104577352 104577352 + Splice_Site SNP T T G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:104577352T>G ENST00000304883.2 - 3 1027 c.888_splice c.e3+1 p.K296_splice NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 296 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GACCAGTACCTTTCTTTTGGC 0.388000 12 100 0 0 1 0 0 KCNIP1 30820 broad.mit.edu 37 5 170139862 170139862 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:170139862C>T ENST00000411494.1 + 2 66 c.66C>T c.(64-66)atC>atT p.I22I KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000434108.1_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000377360.4_Intron Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 22 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity p.I22I(1) autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTAGACATCGCCTGGTGGT 0.413000 18 81 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101481355 101481355 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:101481355G>A ENST00000341893.3 + 10 2596 c.1844G>A c.(1843-1845)cGt>cAt p.R615H CEP97_ENST00000494050.1_Missense_Mutation_p.R556H|CEP97_ENST00000327230.4_Missense_Mutation_p.R615H Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 615 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 GATGAAGAACGTATTAAAAAA 0.333000 9 72 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30128480 30128480 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:30128480C>T ENST00000449742.2 - 1 231 c.156G>A c.(154-156)gaG>gaA p.E52E TRIM10_ENST00000376704.3_Silent_p.E52E NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 52 cytoplasm zinc ion binding ovary(1) 1 TAGGGGACTCCTCCAGGTCTG 0.622000 23 180 0 0 1 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118202630 118202630 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:118202630C>T ENST00000369230.3 + 3 414 c.268C>T c.(268-270)Cgt>Tgt p.R90C NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 90 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) CAAGATCACCCGTATCAACAT 0.388000 10 47 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2617906 2617906 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:2617906C>T ENST00000402050.2 + 7 680 c.496C>T c.(496-498)Ctg>Ttg p.L166L IQCE_ENST00000404984.1_Silent_p.L115L|IQCE_ENST00000325979.7_Silent_p.L101L|IQCE_ENST00000438376.2_Silent_p.L150L NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 166 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) CGACGTGGACCTGATGAGAAC 0.612000 7 51 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23316062 23316062 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:23316062G>A ENST00000560464.1 - 0 2877 ATAAAGTCTTGGTGGCTTCAC 0.502000 16 112 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33046326 33046326 + Splice_Site SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:33046326G>A ENST00000280979.4 + 5 2517 c.2346_splice c.e5-1 p.G783_splice AKAP6_ENST00000557272.1_Splice_Site_p.G783_splice|AKAP6_ENST00000557354.1_Splice_Site_p.G783_splice NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 783 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CTTTCACAAGGGGTTTGTAAA 0.358000 15 68 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8587371 8587371 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:8587371G>A ENST00000338257.8 - 27 3377 c.3110C>T c.(3109-3111)cCc>cTc p.P1037L NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 1037 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCGAGGCTGGGGCTTGGGTCG 0.632000 3 18 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457674 124457674 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:124457674G>A ENST00000329446.4 - 3 614 c.583C>T c.(583-585)Ctg>Ttg p.L195L NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 195 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) ACCCCAGACAGAAATGAGGAG 0.473000 11 67 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169699657 169699657 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:169699657C>T ENST00000333360.7 - 5 770 c.631G>A c.(631-633)Gat>Aat p.D211N SELE_ENST00000367779.4_Missense_Mutation_p.D211N|SELE_ENST00000367781.4_Missense_Mutation_p.D211N|SELE_ENST00000367780.4_Intron|SELE_ENST00000367775.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.D211N|SELE_ENST00000367776.1_Missense_Mutation_p.D211N|SELE_ENST00000367774.1_Missense_Mutation_p.D211N|SELE_ENST00000367782.4_Missense_Mutation_p.D211N|C1orf112_ENST00000498289.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 211 Sushi 1. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TAACCCCTATCACAGCTGATA 0.512000 26 68 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98660391 98660391 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr13:98660391C>T ENST00000261574.5 + 18 2029 c.1849C>T c.(1849-1851)Cct>Tct p.P617S IPO5_ENST00000539640.1_Missense_Mutation_p.P474S|IPO5_ENST00000490680.1_Missense_Mutation_p.P599S NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 599 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 AGATGATGATCCTCAGGTAAG 0.383000 9 60 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52523558 52523558 + Missense_Mutation SNP C C T rs146356041 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:52523558C>T ENST00000345716.4 + 17 3454 c.3320C>T c.(3319-3321)cCg>cTg p.P1107L NISCH_ENST00000479054.1_Missense_Mutation_p.P1107L NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1107 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) gcccAGTACCCGAGTGAGCAC 0.687000 8 50 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162508649 162508649 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:162508649C>T ENST00000306100.5 - 8 1409 c.973G>A c.(973-975)Ggc>Agc p.G325S FSTL5_ENST00000379164.4_Missense_Mutation_p.G324S|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Missense_Mutation_p.G324S|FSTL5_ENST00000536695.1_Missense_Mutation_p.G324S NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 325 Ig-like 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGTTCATAGCCATCTGCATAG 0.358000 12 95 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113246681 113246681 + Silent SNP G G T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:113246681G>T ENST00000297405.5 - 68 10897 c.10653C>A c.(10651-10653)cgC>cgA p.R3551R CSMD3_ENST00000352409.3_Silent_p.R3481R|CSMD3_ENST00000455883.2_Silent_p.R3382R|CSMD3_ENST00000343508.3_Silent_p.R3511R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3551 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTAACATTAGGCGAGCTTCCT 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 152 1.00025e-24 1.02269e-24 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51497504 51497504 + Nonsense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:51497504G>A ENST00000371117.3 - 65 11799 c.11524C>T c.(11524-11526)Cga>Tga p.R3842* NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3842 R -> L. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GGCTTGGATCGAGCTGTAAAA 0.423000 10 65 0 0 1 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100550368 100550368 + RNA SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:100550368C>T ENST00000397112.4 - 0 2453 NR_036632.1 large_intestine(1)|lung(3) 4 GCCCCACTTCCCCAGGTTTTG 0.527000 9 24 0 0 1 0 0 ATP5O 539 broad.mit.edu 37 21 35281510 35281510 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr21:35281510G>A ENST00000429238.1 - 2 48 c.49C>T c.(49-51)Cct>Tct p.P17S ATP5O_ENST00000290299.2_Silent_p.I68I GTTCCTTCAGGATTTGCTGAA 0.368000 16 87 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26431764 26431764 + RNA SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:26431764C>T ENST00000466808.2 + 0 1712 TTTAGTAGTTCCTTTGGTTGT 0.502000 25 134 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124332563 124332563 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:124332563C>T ENST00000409039.3 + 32 5541 c.5516C>T c.(5515-5517)aCc>aTc p.T1839I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1839 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACCGGCAAAACCGAGACCACC 0.552000 28 103 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160742967 160742967 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:160742967C>T ENST00000263636.4 - 5 904 c.877G>A c.(877-879)Gac>Aac p.D293N LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D293N|LY75_ENST00000553424.1_Missense_Mutation_p.D293N|LY75_ENST00000554112.1_Missense_Mutation_p.D293N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D293N NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) GGTTTGTGGTCTGACCATTCC 0.378000 16 71 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53588086 53588086 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:53588086G>A ENST00000267082.5 - 10 1435 c.1204C>T c.(1204-1206)Cct>Tct p.P402S ITGB7_ENST00000422257.3_Missense_Mutation_p.P402S|ITGB7_ENST00000550743.2_Missense_Mutation_p.P402S|ITGB7_ENST00000338737.4_Missense_Mutation_p.P402S NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 402 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGGACCCCAGGAGGGAGTGAA 0.547000 16 62 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106968940 106968940 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:106968940C>T ENST00000369066.3 + 2 3120 c.2633C>T c.(2632-2634)cCc>cTc p.P878L NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 878 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GTGTCACAGCCCACGACTGAG 0.468000 13 90 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647898 121647898 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:121647898C>T ENST00000489711.1 + 16 1799 c.1411C>T c.(1411-1413)Cac>Tac p.H471Y SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.H440Y NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 471 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CCTGAAATATCACAATTTGTC 0.388000 36 193 0 0 1 0 0 LILRA3 11026 broad.mit.edu 37 19 54802730 54802730 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:54802730G>A ENST00000391745.1 - 9 1078 c.762C>T c.(760-762)gcC>gcT p.A254A LILRA3_ENST00000391744.3_Silent_p.A173A|LILRA3_ENST00000251390.3_Silent_p.A237A leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTCCCCAGGGGCCACGACAG 0.597000 10 52 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50958944 50958944 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:50958944G>A ENST00000374103.4 - 7 922 c.837C>T c.(835-837)acC>acT p.T279T OGDHL_ENST00000419399.1_Silent_p.T222T|OGDHL_ENST00000432695.1_Silent_p.T70T NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 279 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TGTCGATGATGGTCTTGAGGG 0.562000 5 20 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692539 135692539 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:135692539G>A ENST00000513104.1 - 2 819 c.537C>T c.(535-537)atC>atT p.I179I TRPC7_ENST00000426057.2_Silent_p.I179I|TRPC7_ENST00000355180.3_Silent_p.I179I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 179 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGATGTGCACGATCTCATACT 0.607000 18 73 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109893608 109893608 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:109893608G>A ENST00000256637.6 - 6 783 c.725C>T c.(724-726)tCc>tTc p.S242F SORT1_ENST00000538502.1_Missense_Mutation_p.S106F NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 242 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) AAAATTCTTGGACACCCACAG 0.388000 39 132 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107288690 107288690 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:107288690G>A ENST00000277216.3 - 1 800 c.801C>T c.(799-801)ctC>ctT p.L267L NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 CTTTCCCAAGGAGGTCCTGGG 0.428000 29 95 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85448774 85448774 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:85448774C>T ENST00000394573.1 + 8 810 c.608C>T c.(607-609)tCc>tTc p.S203F SLC28A1_ENST00000537216.1_Missense_Mutation_p.S203F|SLC28A1_ENST00000537703.1_Missense_Mutation_p.S125F|SLC28A1_ENST00000538177.1_Missense_Mutation_p.S203F|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S203F|SLC28A1_ENST00000286749.3_Missense_Mutation_p.S203F NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 203 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGGTAGGTGTCCTGGAGGGCC 0.597000 10 33 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142132991 142132991 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:142132991G>A ENST00000264951.4 - 14 1696 c.1579C>T c.(1579-1581)Cct>Tct p.P527S XRN1_ENST00000392981.2_Missense_Mutation_p.P527S NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 527 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TAGCATGCAGGAAGTAAATTT 0.358000 20 99 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601492 58601492 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:58601492G>A ENST00000240727.6 - 2 542 c.143C>T c.(142-144)tCc>tTc p.S48F ZSCAN18_ENST00000600404.1_Missense_Mutation_p.S104F|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.S48F NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 48 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) ACGCAGGCGGGAGAACTCCAG 0.682000 6 45 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33143391 33143391 + Missense_Mutation SNP G G A rs150877886 byFrequency TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:33143391G>A ENST00000341947.2 - 30 2563 c.2336C>T c.(2335-2337)cCg>cTg p.P779L COL11A2_ENST00000395197.1_Missense_Mutation_p.P719L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P758L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P672L|COL11A2_ENST00000374708.4_Missense_Mutation_p.P693L|COL11A2_ENST00000374714.1_Missense_Mutation_p.P753L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P698L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.P732L NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 779 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GTCTCCAGTCGGTCCAGTGCG 0.647000 11 59 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212683 26212683 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:26212683C>T ENST00000379034.1 + 2 869 c.720C>T c.(718-720)acC>acT p.T240T NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 240 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TCAACAGAACCTCCCAACATT 0.498000 21 38 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28993268 28993268 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr18:28993268G>A ENST00000359747.4 + 15 2919 c.2890G>A c.(2890-2892)Gat>Aat p.D964N RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D945N NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 945 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACCTGTCTATGATATTCAAGG 0.433000 49 212 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102480495 102480495 + Missense_Mutation SNP T T G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:102480495T>G ENST00000324219.4 + 17 2153 c.2079T>G c.(2077-2079)agT>agG p.S693R MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S588R|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000350198.4_Intron O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 617 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GATCAGACAGTGACGAGGTGC 0.448000 14 83 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1617025 1617025 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr20:1617025C>T ENST00000381580.1 - 3 637 c.458G>A c.(457-459)gGg>gAg p.G153E SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.G186E|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000216927.4_Missense_Mutation_p.G186E|SIRPG_ENST00000381583.2_Missense_Mutation_p.G186E Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 186 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GAGCTCATTCCCATTTTTGAA 0.577000 15 100 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184106424 184106424 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:184106424G>A ENST00000204604.1 + 21 2850 c.2604G>A c.(2602-2604)ggG>ggA p.G868G CHRD_ENST00000348986.3_Silent_p.G828G|CHRD_ENST00000450923.1_Silent_p.G868G|CHRD_ENST00000545352.1_Silent_p.G410G|EIF2B5_ENST00000444495.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 868 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) AGGCTGATGGGCCCCGGGGCT 0.617000 19 97 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197143364 197143364 + Missense_Mutation SNP G G T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:197143364G>T ENST00000260983.2 - 15 3205 c.3023C>A c.(3022-3024)tCc>tAc p.S1008Y HECW2_ENST00000409111.1_Missense_Mutation_p.S652Y NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 1008 Interaction with TP73.|WW 2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GGTGGTGCGGGAGTTGTGGTC 0.507000 7 38 0.000157383 0.00015913 1 1 0 NWD1 284434 broad.mit.edu 37 19 16860439 16860439 + Missense_Mutation SNP A A C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:16860439A>C ENST00000524140.2 + 6 1404 c.986A>C c.(985-987)gAt>gCt p.D329A NWD1_ENST00000552788.1_Missense_Mutation_p.D329A|NWD1_ENST00000549814.1_Missense_Mutation_p.D329A|NWD1_ENST00000523826.1_Missense_Mutation_p.D123A|NWD1_ENST00000379808.3_Missense_Mutation_p.D329A|NWD1_ENST00000339803.6_Missense_Mutation_p.D194A NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 329 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTCAGGCACGATGACAGCAAG 0.617000 11 60 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113275983 113275983 + Silent SNP G G A rs61754530 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:113275983G>A ENST00000297405.5 - 61 9991 c.9747C>T c.(9745-9747)ttC>ttT p.F3249F CSMD3_ENST00000352409.3_Silent_p.F3179F|CSMD3_ENST00000455883.2_Silent_p.F3080F|CSMD3_ENST00000343508.3_Silent_p.F3209F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3249 Sushi 25. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGCCCCAGTCGAAATTTGTTC 0.453000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 82 0 0 1 0 0 SERAC1 84947 broad.mit.edu 37 6 158541537 158541537 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:158541537G>A ENST00000367102.2 - 11 1227 c.1086C>T c.(1084-1086)atC>atT p.I362I SERAC1_ENST00000367104.3_Silent_p.I362I|SERAC1_ENST00000367101.1_Silent_p.I362I Q96JX3 SRAC1_HUMAN serine active site containing 1 362 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) GATTTGCCAGGATTCTGGCAG 0.448000 16 92 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248813482 248813482 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:248813482C>T ENST00000344889.3 - 1 703 c.704G>A c.(703-705)gGa>gAa p.G235E NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CACAGCCTTTCCCCTCCCCTC 0.512000 5 35 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632412 143632412 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:143632412C>T ENST00000408955.2 + 1 154 c.87C>T c.(85-87)tcC>tcT p.S29S NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CCCTGTTTTCCCTGTTCTTGG 0.453000 34 210 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99129800 99129800 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:99129800C>T ENST00000394170.2 + 7 2699 c.2448C>T c.(2446-2448)ctC>ctT p.L816L ZKSCAN5_ENST00000451158.1_Silent_p.L816L|ZKSCAN5_ENST00000326775.5_Silent_p.L816L NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 816 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GTTGTAGCCTCTTTAAACACC 0.388000 26 147 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101063357 101063357 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:101063357G>A ENST00000313669.7 + 0 450 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 GCCGGTGGCCGGGGCCCTGCG 0.652000 6 42 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46799755 46799755 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:46799755G>A ENST00000529230.1 - 22 2728 c.2682C>T c.(2680-2682)atC>atT p.I894I CKAP5_ENST00000312055.5_Silent_p.I894I|CKAP5_ENST00000354558.3_Silent_p.I894I|CKAP5_ENST00000415402.1_Silent_p.I894I Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 894 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TATTCGGTTGGATAAATTTTG 0.378000 24 123 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94634421 94634421 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:94634421C>T ENST00000258526.4 + 11 2530 c.2281C>T c.(2281-2283)Cct>Tct p.P761S NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 761 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CCTTATATTTCCTGCTACCAC 0.383000 31 191 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003616 75003616 + Nonsense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:75003616C>T ENST00000373359.2 - 1 1463 c.1271G>A c.(1270-1272)tGg>tAg p.W424* NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 424 MAGE 2. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AAGCAAGTTCCAGACATTGGC 0.488000 31 84 0 0 1 0 0 KLF10 7071 broad.mit.edu 37 8 103664119 103664119 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:103664119G>A ENST00000395884.3 - 3 1310 c.408C>T c.(406-408)ctC>ctT p.L136L KLF10_ENST00000285407.6_Silent_p.L147L NM_001032282.2 NP_001027453.1 Q13118 KLF10_HUMAN Kruppel-like factor 10 147 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) GAGCTTTGGGGAGTTTGGGGG 0.493000 OREG0018913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 108 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475859 120475859 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:120475859G>A ENST00000355622.6 + 3 1554 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E445K NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 485 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TTCTTTCCAGGAAAACTTCCT 0.448000 20 75 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91465117 91465117 + Missense_Mutation SNP T T G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:91465117T>G ENST00000416354.1 + 2 138 c.66T>G c.(64-66)atT>atG p.I22M KIF20B_ENST00000260753.4_Missense_Mutation_p.I22M|KIF20B_ENST00000394289.2_Missense_Mutation_p.I22M|KIF20B_ENST00000371728.3_Missense_Mutation_p.I22M Q96Q89 KI20B_HUMAN kinesin family member 20B 22 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 CTGACCCAATTGCAAGGCCTT 0.358000 22 150 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24199186 24199186 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:24199186C>T ENST00000265769.4 + 16 1856 c.1746C>T c.(1744-1746)ttC>ttT p.F582F RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.F329F NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 582 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TAGTGACTTTCCTGACATGTA 0.423000 23 127 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25915531 25915531 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:25915531G>A ENST00000398988.3 + 7 1050 c.605G>A c.(604-606)cGg>cAg p.R202Q KSR1_ENST00000319524.6_Missense_Mutation_p.R339Q|KSR1_ENST00000509603.2_Missense_Mutation_p.R339Q|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000268763.6_Missense_Mutation_p.R202Q NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 337 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CAGATGGTACGGAGGGATATC 0.647000 3 7 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44228513 44228513 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:44228513C>T ENST00000403799.3 - 1 509 c.40G>A c.(40-42)Gag>Aag p.E14K GCK_ENST00000437084.1_Missense_Mutation_p.E14K|GCK_ENST00000476008.1_Intron NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 14 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 GATACCTTCTCCTTCTTGGCG 0.562000 5 31 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31596796 31596796 + Silent SNP G G A rs140651875 byFrequency TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:31596796G>A ENST00000379416.3 - 16 1677 c.1629C>T c.(1627-1629)ttC>ttT p.F543F NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 543 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.F543F(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTGCACTGGCGAAAGTGGGGT 0.463000 6 23 0 0 1 0 0 RAB3B 5865 broad.mit.edu 37 1 52385653 52385653 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:52385653C>T ENST00000371655.3 - 5 818 c.606G>A c.(604-606)aaG>aaA p.K202K NM_002867.3 NP_002858.2 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 202 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 GACGCGTGTTCTTGGAGGAGC 0.592000 19 43 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118327281 118327281 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:118327281G>A ENST00000369221.2 + 13 1397 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 457 PLAT. 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) CGTCAGGGAGGAAGTTCTGCT 0.438000 12 53 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14954330 14954330 + Missense_Mutation SNP A A T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrY:14954330A>T ENST00000338981.3 + 38 7322 c.6377A>T c.(6376-6378)cAc>cTc p.H2126L USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 2126 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TTTATTGCACACTTTTCCTTG 0.388000 26 59 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197398637 197398637 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:197398637C>T ENST00000367397.1 + 4 1736 c.878C>T c.(877-879)tCc>tTc p.S293F CRB1_ENST00000367399.2_Missense_Mutation_p.S800F|CRB1_ENST00000535699.1_Missense_Mutation_p.S888F|CRB1_ENST00000367400.3_Missense_Mutation_p.S912F|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.S393F P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 912 EGF-like 7; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTCTCCTGTTCCTGTCCTGCC 0.542000 37 108 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61585198 61585198 + Splice_Site SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr18:61585198G>A ENST00000238508.3 + 4 293 c.e4-1 NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CTCTTTTAAAGGAATTCAACT 0.338000 6 32 0 0 1 0 0 RAB37 326624 broad.mit.edu 37 17 72736954 72736954 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:72736954C>T ENST00000392610.1 + 2 182 c.141C>T c.(139-141)atC>atT p.I47I RAB37_ENST00000392613.5_Silent_p.I47I|RAB37_ENST00000392614.4_Silent_p.I52I|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000528438.1_Silent_p.I20I|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000392612.3_Intron Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 47 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 GTTTCCTGATCCAATTCAAAG 0.577000 44 176 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14307065 14307065 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr20:14307065G>A ENST00000378053.3 - 2 1344 c.1088C>T c.(1087-1089)aCc>aTc p.T363I MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.T363I|MACROD2_ENST00000217246.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 363 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TATCTGAATGGTGCTTACAAT 0.493000 27 170 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117641144 117641144 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:117641144C>T ENST00000368508.3 - 36 6025 c.5827G>A c.(5827-5829)Gaa>Aaa p.E1943K ROS1_ENST00000368507.3_Missense_Mutation_p.E1937K|GOPC_ENST00000467125.1_5'UTR NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1943 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTCAGTTTTTCCCGAGGGAAG 0.458000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 16 62 0 0 1 0 0 MRPL15 29088 broad.mit.edu 37 8 55060096 55060096 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:55060096C>T ENST00000260102.4 + 5 782 c.708C>T c.(706-708)ctC>ctT p.L236L NM_014175.3 NP_054894.1 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 236 translation large ribosomal subunit|mitochondrion structural constituent of ribosome endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3) 10 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) GACTTGAACTCGCCAGGAAGT 0.438000 13 79 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129380963 129380963 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:129380963G>A ENST00000421865.2 + 3 367 c.318G>A c.(316-318)aaG>aaA p.K106K NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 106 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTGATGGAAAGAACACTTGGT 0.358000 20 60 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166503 19166503 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:19166503G>A ENST00000375371.3 - 6 2131 c.2110C>T c.(2110-2112)Ccc>Tcc p.P704S NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 704 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CGGGTGGTGGGACTGAGGCCC 0.557000 14 94 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35149097 35149097 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:35149097G>A ENST00000156471.5 - 35 4579 c.4354C>T c.(4354-4356)Cct>Tct p.P1452S NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 1452 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GATAAAGCAGGGATGGCTTCT 0.557000 18 83 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128477426 128477426 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:128477426G>A ENST00000322313.4 - 16 2331 c.2173C>T c.(2173-2175)Cct>Tct p.P725S NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 725 Collagen-like. postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TGACCCTGAGGGCCAGGCGGG 0.632000 24 87 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). 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.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(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) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 3 9 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51499382 51499382 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:51499382G>A ENST00000600767.1 - 7 1205 c.716C>T c.(715-717)cCt>cTt p.P239L KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.P284L|KLK8_ENST00000291726.7_Missense_Mutation_p.P239L|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000347619.4_Missense_Mutation_p.P98L|CTB-147C22.9_ENST00000594512.1_RNA O60259 KLK8_HUMAN kallikrein-related peptidase 8 239 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) ATAGACGCCAGGTTTGTCGGA 0.547000 31 121 0 0 1 0 0 TRAV26-1 28657 broad.mit.edu 37 14 22592169 22592169 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:22592169G>A ENST00000390455.3 + 0 463 ACAGAAGACAGAAAGTCCAGC 0.498000 7 33 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20658822 20658822 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:20658822C>T ENST00000525748.1 + 12 2115 c.1842C>T c.(1840-1842)ttC>ttT p.F614F SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 614 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TTTGTTTCTTCATCATGGGTT 0.527000 14 84 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323206 31323206 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:31323206G>A ENST00000265071.2 + 12 2429 c.2164G>A c.(2164-2166)Gaa>Aaa p.E722K NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 722 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.E722K(2) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AAGGTTAAAGGAAAATGACAC 0.562000 10 49 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56676729 56676729 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:56676729G>A ENST00000389934.3 - 14 2094 c.1977C>T c.(1975-1977)tcC>tcT p.S659S TEX14_ENST00000349033.5_Silent_p.S659S|TEX14_ENST00000240361.8_Silent_p.S665S NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 665 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTTCTTCCATGGATTTCAGTT 0.468000 22 141 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127789729 127789729 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:127789729C>T ENST00000368679.4 - 9 1141 c.832G>A c.(832-834)Gac>Aac p.D278N ADAM12_ENST00000368676.4_Missense_Mutation_p.D278N NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 278 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GTGAATGGGTCCTGACTTACA 0.483000 8 49 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039417 55039417 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:55039417C>T ENST00000370862.3 + 1 368 c.32C>T c.(31-33)cCt>cTt p.P11L NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 11 P -> T (in dbSNP:rs41271312). feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GACTCCCCCCCTTGTCGCAAC 0.567000 26 101 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768045 77768045 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:77768045G>A ENST00000521891.2 + 10 9336 c.8888G>A c.(8887-8889)gGg>gAg p.G2963E ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2937E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2918E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2918E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2918 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAATGTTAGGGAATGAGATT 0.423000 HNSCC(33;0.089) 6 33 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19185996 19185996 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:19185996G>A ENST00000375371.3 - 1 180 c.159C>T c.(157-159)ttC>ttT p.F53F RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 53 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GCACCTGCAGGAAGTTAAGGT 0.607000 19 95 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13933738 13933738 + Silent SNP C C G rs146966218 by1000genomes TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:13933738C>G ENST00000294489.6 + 2 707 c.366C>G c.(364-366)gcC>gcG p.A122A PDPN_ENST00000376057.4_Silent_p.A122A|PDPN_ENST00000509009.1_Silent_p.A41A|PDPN_ENST00000475043.1_Silent_p.A4A|PDPN_ENST00000487038.1_Silent_p.A4A|PDPN_ENST00000513143.1_Silent_p.A4A|PDPN_ENST00000376061.4_Silent_p.A4A Q86YL7 PDPN_HUMAN podoplanin 46 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) TGCCAGGTGCCGAAGATGATG 0.517000 6 63 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33154568 33154568 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:33154568G>A ENST00000341947.2 - 5 861 c.634C>T c.(634-636)Cca>Tca p.P212S COL11A2_ENST00000395197.1_Missense_Mutation_p.P212S|COL11A2_ENST00000395194.1_Missense_Mutation_p.P212S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P212S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P212S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P212S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P212S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P212S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P212S NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 212 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TGGACCCCTGGGACAATGGCC 0.557000 22 117 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109954514 109954514 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:109954514G>A ENST00000424296.2 - 11 1022 c.946C>T c.(946-948)Cgt>Tgt p.R316C AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.R316C|AK9_ENST00000368948.2_Missense_Mutation_p.R316C NM_001145128.2 NP_001138600.2 adenylate kinase 9 GCAAGAGTACGAAATAGCTCA 0.303000 7 34 0 0 1 0 0 ATRIP 84126 broad.mit.edu 37 3 48506019 48506019 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:48506019C>T ENST00000412052.1 + 11 2196 c.1734C>T c.(1732-1734)ccC>ccT p.P578P ATRIP_ENST00000346691.4_Intron|ATRIP_ENST00000357105.6_Silent_p.P544P|ATRIP_ENST00000320211.3_Silent_p.P671P NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 671 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCAGAGCCCCTTGCCCCCAG 0.602000 Other conserved DNA damage response genes 17 99 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32811929 32811929 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr22:32811929G>A ENST00000397452.1 - 15 1484 c.1374C>T c.(1372-1374)ttC>ttT p.F458F BPIFC_ENST00000534972.1_Silent_p.F182F|BPIFC_ENST00000300399.3_Silent_p.F458F|BPIFC_ENST00000432451.2_Silent_p.F215F Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 458 extracellular region lipopolysaccharide binding|phospholipid binding CTGAATTGACGAATAAGAATT 0.368000 6 28 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19135467 19135467 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:19135467G>A ENST00000601879.1 - 3 1987 c.1690C>T c.(1690-1692)Cct>Tct p.P564S SUGP2_ENST00000456085.2_Missense_Mutation_p.P333S|SUGP2_ENST00000452918.2_Missense_Mutation_p.P564S|SUGP2_ENST00000337018.6_Missense_Mutation_p.P564S|SUGP2_ENST00000600377.1_Missense_Mutation_p.P578S Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 564 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TGAATTTCAGGTTTCGTAGGA 0.468000 11 68 0 0 1 0 0 USP5 8078 broad.mit.edu 37 12 6972535 6972535 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:6972535C>T ENST00000229268.8 + 15 2000 c.1948C>T c.(1948-1950)Ccg>Tcg p.P650S USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Intron NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 650 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 CTTCTCCTCTCCGACATGTTA 0.567000 11 101 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005475 74005475 + Missense_Mutation SNP C C G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:74005475C>G ENST00000301607.3 - 22 4064 c.3811G>C c.(3811-3813)Gac>Cac p.D1271H EVPL_ENST00000586740.1_Missense_Mutation_p.D1293H NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1271 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TTCAGGCGGTCGATCTCACGC 0.672000 11 118 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20673127 20673127 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:20673127C>T ENST00000307493.4 - 6 1048 c.981G>A c.(979-981)caG>caA p.Q327Q ACSM1_ENST00000520010.1_Silent_p.Q327Q|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 327 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TGGTGAAATCCTGCTGCAGAA 0.368000 14 59 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41165918 41165918 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:41165918C>T ENST00000483722.1 - 2 490 c.305G>A c.(304-306)cGa>cAa p.R102Q NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 102 Ig-like V-type. T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) GCACCAGTATCGGCCTGAGTC 0.617000 7 66 0 0 1 0 0 SUCLG2 8801 broad.mit.edu 37 3 67579591 67579591 + Silent SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:67579591T>C ENST00000307227.5 - 3 273 c.246A>G c.(244-246)ttA>ttG p.L82L SUCLG2_ENST00000493112.1_Silent_p.L82L|SUCLG2_ENST00000492795.1_Silent_p.L82L NM_003848.3 NP_003839.2 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming, beta subunit 82 ATP-grasp. succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 10 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) TCTGGGCTTTTAAAACAATTT 0.333000 24 81 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42260805 42260805 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:42260805C>T ENST00000199764.6 + 2 580 c.362C>T c.(361-363)aCc>aTc p.T121I CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 121 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) GGATTCTATACCCTACAAGTC 0.493000 79 415 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184787805 184787805 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:184787805G>A ENST00000367511.3 - 9 1333 c.1140C>T c.(1138-1140)ttC>ttT p.F380F FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 380 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TGGTGGTCTGGAAGTTCTGGC 0.507000 17 182 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49925742 49925742 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:49925742C>T ENST00000270631.1 - 2 387 c.286G>A c.(286-288)Gtg>Atg p.V96M NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 96 neuropeptide signaling pathway extracellular region endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GCATCCAACACCAGCAGCTTG 0.687000 6 38 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110450332 110450332 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:110450332G>A ENST00000260283.4 - 16 3622 c.3338C>T c.(3337-3339)tCt>tTt p.S1113F ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S1077F|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S1090F|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S656F|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S1087F|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S1087F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S1077F NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1113 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) CTGGAAGGGAGAAGAACTACA 0.512000 12 65 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316581 30316581 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:30316581G>A ENST00000375377.1 - 3 2597 c.2496C>T c.(2494-2496)atC>atT p.I832I NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 832 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CTAACTGACTGATCAAATCCC 0.557000 24 124 0 0 1 0 0 C2orf66 401027 broad.mit.edu 37 2 197672278 197672278 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:197672278G>A ENST00000342506.2 - 2 1131 c.243C>T c.(241-243)ttC>ttT p.F81F NM_213608.2 NP_998773.1 Q6UXQ4 CB066_HUMAN chromosome 2 open reading frame 66 81 extracellular region p.F81F(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 CATTCGTGGGGAAAGGATTTG 0.398000 32 129 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47498936 47498936 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:47498936G>A ENST00000371901.3 + 4 638 c.388G>A c.(388-390)Gga>Aga p.G130R CYP4X1_ENST00000538609.1_Missense_Mutation_p.G129R NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 130 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 GGCTCTAGACGGACCCAAGTG 0.433000 25 54 0 0 1 0 0 FGF17 8822 broad.mit.edu 37 8 21905578 21905578 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:21905578G>A ENST00000359441.3 + 5 972 c.469G>A c.(469-471)Ggg>Agg p.G157R FGF17_ENST00000521709.1_3'UTR|FGF17_ENST00000518533.1_Missense_Mutation_p.G146R NM_003867.2 NP_003858.1 O60258 FGF17_HUMAN fibroblast growth factor 17 157 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) CACGCGGCAGGGGCGGCCCCG 0.657000 6 21 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839601 100839601 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:100839601G>A ENST00000223114.4 - 6 904 c.738C>T c.(736-738)ggC>ggT p.G246G MOGAT3_ENST00000440203.2_Silent_p.G246G|MOGAT3_ENST00000379423.3_Intron NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 246 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GCTGCCAGGAGCCTGTGGCAA 0.582000 4 33 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166915616 166915616 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:166915616G>A ENST00000061240.2 + 4 1092 c.445G>A c.(445-447)Gct>Act p.A149T TLL1_ENST00000507499.1_Missense_Mutation_p.A149T|TLL1_ENST00000513213.1_Missense_Mutation_p.A149T NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 149 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.A149T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCCCAGAGCCGCTACATCAAG 0.418000 5 54 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482293 140482293 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:140482293C>T ENST00000231130.2 + 1 2060 c.2060C>T c.(2059-2061)aCc>aTc p.T687I NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 687 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACTTGCTCACCGTCTACCTG 0.687000 26 98 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196967294 196967294 + Missense_Mutation SNP T T G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:196967294T>G ENST00000367414.5 + 7 1135 c.1079T>G c.(1078-1080)gTt>gGt p.V360G CFHR5_ENST00000256785.4_Missense_Mutation_p.V336G NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 336 Sushi 6. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ATAGCAGGAGTTAATATAAAA 0.284000 6 17 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144906302 144906302 + Missense_Mutation SNP T T A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:144906302T>A ENST00000370490.1 + 1 6614 c.2359T>A c.(2359-2361)Tcc>Acc p.S787T SLITRK2_ENST00000428560.2_Missense_Mutation_p.S787T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S787T|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S787T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S787T Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 787 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GTTTGCCCCTTCCTATGAATC 0.458000 32 77 0 0 1 0 0 NR0B2 8431 broad.mit.edu 37 1 27238545 27238545 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:27238545C>T ENST00000254227.3 - 2 590 c.565G>A c.(565-567)Ggg>Agg p.G189R NM_021969.2 NP_068804.1 Q15466 NR0B2_HUMAN nuclear receptor subfamily 0, group B, member 2 189 Ligand-binding (By similarity). G -> E (in early-onset obesity; Japanese population; strong decrease of repressor activity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) TGCAGGTGCCCAATGTGGGAG 0.652000 9 41 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136589404 136589404 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:136589404C>T ENST00000531224.1 - 10 2545 c.2293G>A c.(2293-2295)Gaa>Aaa p.E765K BCLAF1_ENST00000527536.1_Missense_Mutation_p.E765K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E763K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E763K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E592K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E763K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 765 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.E765K(1) 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) TCCTTTTCTTCTCGAGAACTG 0.383000 10 163 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18691918 18691918 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:18691918C>T ENST00000251296.1 + 6 1125 c.742C>T c.(742-744)Cgt>Tgt p.R248C NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 248 extracellular region p.R248G(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GCGCCCCTCCCGTGGCCTGAC 0.637000 24 129 0 0 1 0 0 C19orf45 374877 broad.mit.edu 37 19 7569240 7569240 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:7569240G>A ENST00000361664.2 + 4 866 c.725G>A c.(724-726)gGa>gAa p.G242E NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 242 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 ATCAGCTATGGATCAACGTGT 0.597000 9 59 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121758671 121758671 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:121758671C>T ENST00000261367.7 + 6 1808 c.380C>T c.(379-381)tCg>tTg p.S127L SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S80L|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S127L|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S127L|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S80L|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000542191.1_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 80 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AAGCGGGTTTCGCCACTGAAA 0.478000 11 36 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103901748 103901748 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:103901748C>T ENST00000278070.2 + 5 3522 c.3483C>T c.(3481-3483)ttC>ttT p.F1161F PPRC1_ENST00000413464.2_Silent_p.F1161F|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Silent_p.F128F NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TACAGGCTTTCATCAGTGAGA 0.557000 13 53 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170667 72170667 + Nonsense_Mutation SNP C C A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:72170667C>A ENST00000537465.1 - 8 1128 c.970G>T c.(970-972)Gag>Tag p.E324* PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.E324*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.E179* Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 324 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTCTGGTACTCCTCCACATGC 0.542000 4 32 0.00909568 0.00913327 1 1 0 MAGEA6 4105 broad.mit.edu 37 X 151869752 151869752 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:151869752C>T ENST00000329342.5 + 3 667 c.442C>T c.(442-444)Cct>Tct p.P148S NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 148 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GTACTTCTTTCCTGTGATCTT 0.522000 37 89 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43250705 43250705 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:43250705G>A ENST00000259750.4 + 14 2310 c.2227G>A c.(2227-2229)Gaa>Aaa p.E743K NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 743 Glu-rich. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) ggaagatgaggaagaggaaga 0.577000 4 17 0 0 1 0 0 SPANXN5 494197 broad.mit.edu 37 X 52825665 52825665 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:52825665C>T ENST00000375511.3 - 2 834 c.82G>A c.(82-84)Gag>Aag p.E28K NM_001009616.2 NP_001009616.1 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 28 large_intestine(1)|lung(5)|skin(2) 8 Ovarian(276;0.236) TTTGGTGTCTCCTGCATCTGT 0.413000 14 43 0 0 1 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37353503 37353503 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:37353503G>A ENST00000233057.4 - 11 1159 c.837C>T c.(835-837)ggC>ggT p.G279G EIF2AK2_ENST00000405334.1_Intron|EIF2AK2_ENST00000395127.2_Silent_p.G279G NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 279 Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) TGAAAACTTGGCCAAATCCAC 0.313000 15 87 0 0 1 0 0 RPUSD4 84881 broad.mit.edu 37 11 126073501 126073501 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:126073501G>A ENST00000298317.4 - 7 999 c.946C>T c.(946-948)Cgc>Tgc p.R316C RPUSD4_ENST00000533628.1_Missense_Mutation_p.R285C NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 316 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) GGGATGTAGCGGGCCTTCGAC 0.582000 15 36 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121724107 121724107 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:121724107C>T ENST00000273691.3 - 3 468 c.363G>A c.(361-363)aaG>aaA p.K121K ILDR1_ENST00000393631.1_Silent_p.K121K|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.K133K|ILDR1_ENST00000344209.5_Silent_p.K121K NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 121 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GGATGGTGATCTTGCGCTGCC 0.632000 4 25 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220161167 220161167 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:220161167G>A ENST00000295718.2 - 17 2622 c.2382C>T c.(2380-2382)ttC>ttT p.F794F PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000423636.2_Silent_p.F704F|PTPRN_ENST00000409251.3_Silent_p.F765F NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 794 Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CCACCTGCCAGAAGTCTGCGA 0.602000 7 69 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1729758 1729758 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:1729758C>T ENST00000313288.4 + 4 735 c.629C>T c.(628-630)tCc>tTc p.S210F NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 210 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AGGACAGAGTCCCAGCACAAA 0.592000 5 32 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886824 123886824 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:123886824G>A ENST00000320891.4 + 1 543 c.543G>A c.(541-543)ccG>ccA p.P181P NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 181 P -> S (in dbSNP:rs1893764). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P181P(2) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTGACGCACCGCCCATCCTGA 0.542000 41 168 0 0 1 0 0 FMNL2 114793 broad.mit.edu 37 2 153486393 153486393 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:153486393G>A ENST00000288670.9 + 20 2891 c.2524G>A c.(2524-2526)Gga>Aga p.G842R FMNL2_ENST00000475377.2_Missense_Mutation_p.G217R NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 842 FH2. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 AGCAGTTTATGGATTTAAACT 0.418000 5 24 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67215859 67215859 + Missense_Mutation SNP A A C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:67215859A>C ENST00000269081.4 - 7 1266 c.357T>G c.(355-357)aaT>aaG p.N119K ABCA10_ENST00000416101.2_Missense_Mutation_p.N119K|ABCA10_ENST00000423818.2_Missense_Mutation_p.Y85D|ABCA10_ENST00000432313.2_Missense_Mutation_p.N119K NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 119 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) GTATCTTCATATTTATTCCAA 0.294000 19 70 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 83938545 83938545 + Splice_Site SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:83938545C>T ENST00000369705.3 - 10 1248 c.1132_splice c.e10+1 p.G378_splice ME1_ENST00000543031.1_Splice_Site_p.G303_splice|ME1_ENST00000541327.1_Splice_Site_p.G212_splice NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 378 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) AAATGCTTACCTATGAGGGCA 0.368000 22 127 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69683824 69683824 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:69683824C>T ENST00000265403.7 + 2 823 c.796C>T c.(796-798)Cct>Tct p.P266S UGT2B10_ENST00000458688.2_Missense_Mutation_p.P182S NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 266 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TTTTAAATTTCCTCATCCATT 0.383000 36 217 0 0 1 0 0 NKAIN2 154215 broad.mit.edu 37 6 124979345 124979345 + Missense_Mutation SNP T T C rs138663713 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:124979345T>C ENST00000368417.1 + 4 347 c.287T>C c.(286-288)aTc>aCc p.I96T NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.I81T|NKAIN2_ENST00000368416.1_Missense_Mutation_p.I96T NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 96 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) ACAGACCTTATCCTGACTTTT 0.443000 15 54 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17271961 17271961 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:17271961G>A ENST00000544301.1 + 2 953 c.540G>A c.(538-540)gaG>gaA p.E180E VIM_ENST00000224237.5_Silent_p.E180E|VIM_ENST00000485947.1_3'UTR|VIM-AS1_ENST00000605833.1_RNA NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 180 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ACCTGGCCGAGGACATCATGC 0.697000 6 14 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863430 55863430 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:55863430C>T ENST00000327335.4 - 1 492 c.493G>A c.(493-495)Gat>Aat p.D165N RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D165N(1) autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GCACAGAAATCCAAGTTAAGA 0.368000 11 87 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23113987 23113987 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:23113987C>T ENST00000397677.1 + 5 1320 c.672C>T c.(670-672)gcC>gcT p.A224A CHMP7_ENST00000313219.7_Silent_p.A224A NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 224 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TGAAGTTTGCCCGAGGGCCAC 0.532000 36 151 0 0 1 0 0 RRP9 9136 broad.mit.edu 37 3 51971282 51971282 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:51971282G>A ENST00000232888.6 - 6 516 c.443C>T c.(442-444)tCt>tTt p.S148F NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 148 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) ACATGTGATAGAGAGCTGGTG 0.577000 17 70 0 0 1 0 0 SYN1 6853 broad.mit.edu 37 X 47434646 47434646 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:47434646C>T ENST00000295987.7 - 10 1310 c.1186G>A c.(1186-1188)Ggt>Agt p.G396S SYN1_ENST00000340666.4_Missense_Mutation_p.G396S NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 396 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 TGGTGGTCACCAATGAGCGGC 0.622000 8 10 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75228542 75228542 + Missense_Mutation SNP A A C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:75228542A>C ENST00000336926.6 - 2 170 c.144T>G c.(142-144)atT>atG p.I48M HIP1_ENST00000434438.2_Missense_Mutation_p.I48M NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 48 ENTH. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CCTGCGTATTAATGGCCTTAT 0.498000 T PDGFRB CMML 18 101 0 0 1 0 0 FUT10 84750 broad.mit.edu 37 8 33247056 33247056 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:33247056G>A ENST00000327671.5 - 4 1268 c.637C>T c.(637-639)Ccg>Tcg p.P213S FUT10_ENST00000335589.3_Missense_Mutation_p.P151S|FUT10_ENST00000518672.1_Missense_Mutation_p.P185S|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.P185S NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 213 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TACACCAGCGGAGCAAGTCTT 0.473000 24 124 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53007995 53007995 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:53007995G>A ENST00000421239.2 + 5 395 c.151G>A c.(151-153)Gaa>Aaa p.E51K NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TTTGTACAGGGAAGTGATGTT 0.498000 30 179 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177226328 177226328 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:177226328C>T ENST00000361539.4 + 4 789 c.477C>T c.(475-477)acC>acT p.T159T FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 159 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 AGTCCCTGACCATTTTTGTGG 0.502000 8 56 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043436 20043436 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:20043436G>A ENST00000570682.1 - 2 983 c.683C>T c.(682-684)gCc>gTc p.A228V NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 228 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 GAACAAGATGGCGGTGGTCTT 0.527000 7 78 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104084292 104084292 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:104084292C>T ENST00000388887.2 + 30 3477 c.3273C>T c.(3271-3273)ttC>ttT p.F1091F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1091 FAS1 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGGCAACTTCCTTCACTTGG 0.403000 7 55 0 0 1 0 0 GPA33 10223 broad.mit.edu 37 1 167042665 167042665 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:167042665C>T ENST00000367868.3 - 2 498 c.155G>A c.(154-156)cGa>cAa p.R52Q GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 52 Ig-like V-type. integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 AAGTCCCTCTCGACTGGAGGT 0.522000 10 72 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38101301 38101301 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:38101301G>A ENST00000308059.6 + 3 652 c.631G>A c.(631-633)Gat>Aat p.D211N DLEC1_ENST00000452631.2_Missense_Mutation_p.D211N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D211N Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 211 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CTCCCCAGAAGATTACTACAC 0.478000 27 185 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96522539 96522539 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:96522539G>A ENST00000371321.3 + 1 159 c.77G>A c.(76-78)aGa>aAa p.R26K CYP2C19_ENST00000464755.1_Intron NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 26 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) AGCTCTGGGAGAGGAAAACTC 0.443000 32 132 0 0 1 0 0 C6orf58 352999 broad.mit.edu 37 6 127912721 127912721 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:127912721G>A ENST00000329722.7 + 6 959 c.947G>A c.(946-948)aGa>aAa p.R316K NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 316 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) AATGTATATAGAGATCATTCG 0.269000 5 15 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47308679 47308679 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:47308679G>A ENST00000335044.2 - 6 1023 c.666C>T c.(664-666)atC>atT p.I222I KIF9_ENST00000444589.2_Silent_p.I222I|KIF9_ENST00000265529.3_Silent_p.I222I|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Silent_p.I222I|KIF9_ENST00000352910.4_Silent_p.I129I NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 222 Kinesin-motor. blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CCTCTAAGTAGATGGTGAAAA 0.493000 50 294 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56330265 56330265 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:56330265C>T ENST00000288221.6 - 3 1111 c.856G>A c.(856-858)Gaa>Aaa p.E286K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 286 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) AGCTCCATTTCCTCTAATGTC 0.473000 52 271 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43211924 43211924 + RNA SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:43211924C>T ENST00000522175.2 + 0 1247 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TATCAAAAATCCAGGATGCAG 0.363000 16 81 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40642348 40642348 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr21:40642348G>A ENST00000342449.3 - 14 1334 c.1256C>T c.(1255-1257)tCc>tTc p.S419F BRWD1_ENST00000333229.2_Missense_Mutation_p.S419F|BRWD1_ENST00000380800.3_Missense_Mutation_p.S419F NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTCCTCTTCGGAAGATAAGTC 0.323000 3 11 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8235333 8235333 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:8235333G>A ENST00000520004.1 - 3 850 c.586C>T c.(586-588)Cct>Tct p.P196S SGK223_ENST00000330777.4_Missense_Mutation_p.P196S Q86YV5 SG223_HUMAN 196 ATP binding|non-membrane spanning protein tyrosine kinase activity TCTTGGTAAGGAAATGAGGGT 0.627000 13 83 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6166762 6166762 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:6166762G>A ENST00000262450.3 - 39 5755 c.5656C>T c.(5656-5658)Ccc>Tcc p.P1886S CHD5_ENST00000378021.1_Missense_Mutation_p.P743S NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1886 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCCACCGGGGGGATGCGGGAC 0.697000 6 19 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17447126 17447126 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr22:17447126G>A ENST00000400588.1 - 6 1259 c.1152C>T c.(1150-1152)atC>atT p.I384I NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 384 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) AGCCCACAGGGATGCAGACAC 0.587000 11 56 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15281227 15281227 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:15281227G>A ENST00000263388.2 - 27 5104 c.5029C>T c.(5029-5031)Cct>Tct p.P1677S NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1677 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AAGCCCTCAGGGAACCAGAGG 0.662000 6 42 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106567 55106567 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:55106567G>A ENST00000453777.1 + 5 531 c.361G>A c.(361-363)Gcc>Acc p.A121T LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.A121T NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 121 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TCTCCTAGGAGCCTACATCAA 0.577000 13 122 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26696415 26696415 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:26696415C>T ENST00000272371.2 - 28 3555 c.3429G>A c.(3427-3429)cgG>cgA p.R1143R OTOF_ENST00000338581.6_Silent_p.R396R|OTOF_ENST00000403946.3_Silent_p.R1143R|OTOF_ENST00000402415.3_Silent_p.R453R|OTOF_ENST00000339598.3_Silent_p.R396R NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1143 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTTTAGGTCCCGTAGGCCCC 0.617000 11 44 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16528446 16528446 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:16528446G>A ENST00000602009.1 - 6 1543 c.648C>T c.(646-648)gaC>gaT p.D216D EPS15L1_ENST00000455140.2_Silent_p.D370D|EPS15L1_ENST00000248070.6_Silent_p.D370D|EPS15L1_ENST00000594975.1_Silent_p.D370D|EPS15L1_ENST00000535753.2_Silent_p.D370D|EPS15L1_ENST00000597937.1_Silent_p.D370D Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 370 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 AGCCTGAACTGTCCTAGAATT 0.507000 OREG0025334 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 44 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170239053 170239053 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:170239053G>A ENST00000518525.1 + 11 1578 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K GABRP_ENST00000519385.1_3'UTR|GABRP_ENST00000265294.4_Missense_Mutation_p.E372K O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 372 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGCCAGCATTGAAATTTCCAG 0.413000 20 115 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77756558 77756558 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:77756558G>A ENST00000354212.4 - 19 3632 c.3379C>T c.(3379-3381)Ccc>Tcc p.P1127S MAGI2_ENST00000419488.1_Missense_Mutation_p.P1113S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P1127S NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1127 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGGTGTCGGGGGAGTGCTGC 0.637000 15 124 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25266999 25266999 + Missense_Mutation SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr13:25266999T>C ENST00000218548.6 + 10 1693 c.1360T>C c.(1360-1362)Ttc>Ctc p.F454L ATP12A_ENST00000381946.3_Missense_Mutation_p.F448L NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 448 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.F448L(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CCGAGCAGAGTTCAAGCCAGG 0.458000 31 197 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75301974 75301974 + Missense_Mutation SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:75301974T>C ENST00000325680.7 + 20 6425 c.6301T>C c.(6301-6303)Tgg>Cgg p.W2101R YLPM1_ENST00000552421.1_Missense_Mutation_p.W1395R NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1906 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TTAGGTCAGATGGGCAGACCT 0.458000 15 70 0 0 1 0 0 KCTD15 79047 broad.mit.edu 37 19 34302347 34302347 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:34302347C>T ENST00000284006.5 + 6 835 c.583C>T c.(583-585)Ccc>Tcc p.P195S KCTD15_ENST00000430256.2_Missense_Mutation_p.P195S|KCTD15_ENST00000588881.1_Missense_Mutation_p.P195S|KCTD15_ENST00000589786.1_Missense_Mutation_p.P195S NM_001129994.1|NM_001129995.1|NM_024076.2 NP_001123466.1|NP_001123467.1|NP_076981.2 Q96SI1 KCD15_HUMAN potassium channel tetramerization domain containing 15 195 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1) 5 Esophageal squamous(110;0.162) GGAGGTCTTCCCCGAGACCGG 0.672000 3 15 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162336962 162336962 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:162336962C>T ENST00000493151.1 + 2 2708 c.341C>T c.(340-342)gCt>gTt p.A114V NOS1AP_ENST00000361897.5_Missense_Mutation_p.A409V|NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000530878.1_Missense_Mutation_p.A404V|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.A95V NM_001126060.1 NP_001119532.2 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 409 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GCGGGCTTGGCTGACTTTGCC 0.677000 24 80 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54847647 54847647 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:54847647G>A ENST00000545554.1 + 28 5895 c.5895G>A c.(5893-5895)gaG>gaA p.E1965E UNC13C_ENST00000260323.11_Silent_p.E1965E|UNC13C_ENST00000537900.1_Silent_p.E1963E Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1965 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGATTCGAGAGGATGCCAGGG 0.413000 4 25 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56587201 56587201 + Missense_Mutation SNP C C G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr18:56587201C>G ENST00000336078.4 + 4 2458 c.1682C>G c.(1681-1683)tCg>tGg p.S561W ZNF532_ENST00000589288.1_Missense_Mutation_p.S561W|ZNF532_ENST00000591230.1_Missense_Mutation_p.S561W|ZNF532_ENST00000591083.1_Missense_Mutation_p.S561W|ZNF532_ENST00000591808.1_Missense_Mutation_p.S561W NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 GCAGCAGCCTCGCAACCCCCC 0.527000 4 19 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2841901 2841901 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr20:2841901C>T ENST00000380445.3 + 8 856 c.784C>T c.(784-786)Cgg>Tgg p.R262W VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.R262W NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 262 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 CTGCAACATCCGGGCACCTCC 0.527000 9 63 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92102788 92102788 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:92102788C>T ENST00000256343.3 - 17 1879 c.1723G>A c.(1723-1725)Gga>Aga p.G575R NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 575 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) ATCACTTTTCCATAGTGTATA 0.368000 12 112 0 0 1 0 0 B3GALTL 145173 broad.mit.edu 37 13 31903733 31903733 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr13:31903733C>T ENST00000343307.4 + 15 1574 c.1425C>T c.(1423-1425)ttC>ttT p.F475F NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 475 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) AGGTGTATTTCACATGGTTGG 0.507000 11 81 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47385128 47385128 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:47385128C>T ENST00000232766.5 + 10 1442 c.1422C>T c.(1420-1422)tcC>tcT p.S474S KLHL18_ENST00000455924.2_Silent_p.S362S NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 474 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) GAGCCGCCTCCCTGGGGAGCA 0.617000 6 54 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72307197 72307197 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:72307197C>T ENST00000263563.6 + 18 2525 c.2257C>T c.(2257-2259)Cgc>Tgc p.R753C NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CTGCACCTACCGCCAGGTGAG 0.647000 11 39 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73062663 73062663 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:73062663G>A ENST00000429829.1 - 0 9925 NR_001564.2 AAGGGAAGAGGGAGACAGCAC 0.488000 6 41 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49131968 49131968 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:49131968G>A ENST00000443164.1 + 5 1794 c.1089G>A c.(1087-1089)ttG>ttA p.L363L SPHK2_ENST00000598088.1_Silent_p.L301L|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000245222.4_Silent_p.L301L|SPHK2_ENST00000600537.1_Silent_p.L242L|SPHK2_ENST00000599029.1_Silent_p.L265L|SPHK2_ENST00000599748.1_Silent_p.L265L Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 301 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TCGACCTGTTGCTCAACTGCT 0.612000 5 66 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123844903 123844903 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:123844903C>T ENST00000369005.1 + 4 3228 c.2888C>T c.(2887-2889)cCt>cTt p.P963L TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.P963L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P963L|TACC2_ENST00000515603.1_Missense_Mutation_p.P963L|TACC2_ENST00000453444.2_Missense_Mutation_p.P963L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 963 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGGGTCTCGCCTCCAGCAGCA 0.542000 22 105 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20229662 20229662 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:20229662C>T ENST00000418063.2 + 4 1411 c.1299C>T c.(1297-1299)gtC>gtT p.V433V ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 433 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 GTGACAAAGTCTTCAAACGCT 0.413000 8 38 0 0 1 0 0 FGFBP1 9982 broad.mit.edu 37 4 15938092 15938092 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:15938092C>T ENST00000382333.1 - 3 458 c.164G>A c.(163-165)gGg>gAg p.G55E FGFBP1_ENST00000259988.2_Missense_Mutation_p.G55E NM_005130.4 NP_005121.1 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 55 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 GCCTTTGTTCCCGGGCCTGCT 0.493000 25 129 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95791108 95791108 + Missense_Mutation SNP T T A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:95791108T>A ENST00000260766.3 + 2 939 c.305T>A c.(304-306)cTt>cAt p.L102H PLCE1_ENST00000371380.2_Missense_Mutation_p.L102H NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 102 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GCGAAAAACCTTAACATTAAC 0.383000 22 71 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222866 140222866 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:140222866C>T ENST00000531613.1 + 1 1960 c.1960C>T c.(1960-1962)Cat>Tat p.H654Y PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.H654Y|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGAAGGATCATGGTGAACC 0.652000 15 78 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612217 179612217 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:179612217G>A ENST00000360870.5 - 46 15132 c.14910C>T c.(14908-14910)tcC>tcT p.S4970S TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1083 Ig-like 30. 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) CCACACCAATGGAAATGTCAG 0.408000 25 119 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97328853 97328853 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:97328853C>T ENST00000266742.4 + 7 928 c.589C>T c.(589-591)Cca>Tca p.P197S NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000557644.1_Missense_Mutation_p.P204S|NEDD1_ENST00000457368.2_Missense_Mutation_p.P108S|NEDD1_ENST00000429527.2_Missense_Mutation_p.P197S|NEDD1_ENST00000411739.2_Missense_Mutation_p.P108S NM_152905.3 NP_690869.1 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally down-regulated 1 197 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 TAGTCAGAGTCCATACCATAA 0.413000 24 125 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834383 178834383 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:178834383C>T ENST00000234816.2 - 3 976 c.529G>A c.(529-531)Gtg>Atg p.V177M ANGPTL1_ENST00000367629.1_Missense_Mutation_p.V177M|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 177 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 GCGTATTTCACCTCTAGTTCC 0.403000 13 48 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39247144 39247144 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:39247144C>T ENST00000518318.2 + 4 478 c.436C>T c.(436-438)Ctc>Ttc p.L146F POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.L146F|POU6F2_ENST00000559001.1_Missense_Mutation_p.L138F P78424 PO6F2_HUMAN POU class 6 homeobox 2 146 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 AACAGCGAATCTCACCAACAT 0.562000 9 70 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72674276 72674276 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:72674276C>T ENST00000373514.2 + 3 710 c.710C>T c.(709-711)tCc>tTc p.S237F NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 237 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) AAGAAAATCTCCCAGTTTGAG 0.448000 8 22 0 0 1 0 0 RPAP2 79871 broad.mit.edu 37 1 92772800 92772800 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:92772800C>T ENST00000370343.3 + 6 564 c.455C>T c.(454-456)cCc>cTc p.P152L RPAP2_ENST00000484158.1_3'UTR NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 152 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) GCACAAATTCCCAAAACTCCA 0.284000 9 49 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476830 120476830 + Nonsense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:120476830G>A ENST00000355622.6 + 3 2525 c.2424G>A c.(2422-2424)tgG>tgA p.W808* TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.W768* NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 808 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.W808F(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ACATCTTCTGGAGACGACTCA 0.537000 10 89 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141526828 141526828 + Missense_Mutation SNP C C A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:141526828C>A ENST00000389484.3 - 35 6683 c.5712G>T c.(5710-5712)atG>atT p.M1904I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1904 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGATATAGGCATCAAAGCAT 0.353000 TSP Lung(27;0.18) 8 64 0.00448238 0.00451334 1 1 0 SGCZ 137868 broad.mit.edu 37 8 14022179 14022179 + Missense_Mutation SNP A A T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:14022179A>T ENST00000382080.1 - 5 1172 c.457T>A c.(457-459)Ttt>Att p.F153I RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Missense_Mutation_p.F106I NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 140 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTCACTTCAAATCTTTTACAC 0.413000 11 66 0 0 1 0 0 DDA1 79016 broad.mit.edu 37 19 17425186 17425186 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:17425186C>T ENST00000359866.4 + 3 248 c.124C>T c.(124-126)Ccg>Tcg p.P42S NM_024050.5 NP_076955.1 Q9BW61 DDA1_HUMAN DET1 and DDB1 associated 1 42 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 CCGCGAGTACCCGTCTGAACA 0.612000 8 56 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321756 79321756 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:79321756C>T ENST00000428286.1 - 8 5557 c.4357G>A c.(4357-4359)Gaa>Aaa p.E1453K PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1812K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1812 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GAATTATCTTCGTTCTTTGGG 0.468000 6 22 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3030098 3030098 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:3030098C>T ENST00000397461.1 + 13 1812 c.1428C>T c.(1426-1428)acC>acT p.T476T CNTN4_ENST00000397459.2_Silent_p.T148T|CNTN4_ENST00000418658.1_Silent_p.T476T|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Silent_p.T148T|CNTN4_ENST00000358480.3_Silent_p.T257T|CNTN4_ENST00000427331.1_Silent_p.T476T NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 476 Ig-like C2-type 5. 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) GGAGTTATACCTGTATAGCCA 0.363000 17 66 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13056097 13056097 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr18:13056097C>T ENST00000506447.1 + 19 3588 c.3508C>T c.(3508-3510)Ctg>Ttg p.L1170L CEP192_ENST00000430049.2_Silent_p.L695L|CEP192_ENST00000325971.8_Silent_p.L574L NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 765 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCTGGCTCTCCTGGGCAAGTC 0.502000 12 30 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83455798 83455798 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:83455798C>T ENST00000334574.8 - 2 526 c.345G>A c.(343-345)agG>agA p.R115R FSD2_ENST00000541889.1_Silent_p.R115R A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 115 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 CTCTCTGCTCCCTGGCTGGGT 0.542000 15 88 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89938757 89938757 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:89938757G>A ENST00000405460.2 + 13 2548 c.2452G>A c.(2452-2454)Gat>Aat p.D818N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 818 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGAGCCAAGAGATAGCAATGA 0.433000 19 92 0 0 1 0 0 P2RX1 5023 broad.mit.edu 37 17 3806589 3806589 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:3806589G>A ENST00000225538.3 - 7 928 c.654C>T c.(652-654)ctC>ctT p.L218L NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 218 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) TCTTGTGAAAGAGGCAGGTCT 0.597000 6 24 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230231809 230231809 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:230231809C>T ENST00000341772.4 - 12 2016 c.1882G>A c.(1882-1884)Gcg>Acg p.A628T NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 628 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AGGCTCTCCGCCATGTGCCCG 0.512000 6 24 0 0 1 0 0 VSNL1 7447 broad.mit.edu 37 2 17773476 17773476 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:17773476C>T ENST00000406397.1 + 2 660 c.135C>T c.(133-135)ctC>ctT p.L45L VSNL1_ENST00000295156.4_Silent_p.L45L|VSNL1_ENST00000404666.2_Silent_p.L45L P62760 VISL1_HUMAN visinin-like 1 45 EF-hand 1. calcium ion binding NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGCTAAATCTCGAGGAATTTC 0.428000 32 135 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021874 132021874 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:132021874C>T ENST00000356920.5 + 15 2940 c.2846C>T c.(2845-2847)aCc>aTc p.T949I PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 949 Actin-like. ATP binding CAGGTCATCACCATCGGCAAC 0.607000 11 120 0 0 1 0 0 ECM1 1893 broad.mit.edu 37 1 150482592 150482592 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:150482592C>T ENST00000369047.4 + 5 444 c.319C>T c.(319-321)Cct>Tct p.P107S ECM1_ENST00000346569.6_Missense_Mutation_p.P107S|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.P134S NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 107 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TCCCCCTCTCCCTCAGGAAGC 0.567000 17 157 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457804 45457804 + RNA SNP T T A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:45457804T>A ENST00000548424.1 + 0 448 CATCTGTGATTTCTGCTGCTT 0.443000 25 120 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8700744 8700744 + Missense_Mutation SNP A A C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:8700744A>C ENST00000329805.4 - 1 1923 c.1695T>G c.(1693-1695)agT>agG p.S565R NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 565 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 GCTCAGAGTCACTGGTGTCAC 0.562000 11 67 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810341 106810341 + Nonsense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:106810341G>A ENST00000526355.1 - 4 1519 c.1051C>T c.(1051-1053)Cga>Tga p.R351* GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.R351*|GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.R351* NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 351 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GTGTCACATCGAAGCTGCTTC 0.473000 15 52 0 0 1 0 0 IGKV1-9 28941 broad.mit.edu 37 2 89309733 89309733 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:89309733G>A ENST00000493819.1 - 0 154 GATGCAGACAGGAAGGATGGA 0.458000 44 238 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81625493 81625493 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:81625493C>T ENST00000558726.1 - 22 2708 c.2573G>A c.(2572-2574)cGa>cAa p.R858Q TMC3_ENST00000359440.5_Missense_Mutation_p.R857Q|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 857 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 AAAGTCTTTTCGGAAAAGAGG 0.527000 17 106 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67264052 67264052 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:67264052C>T ENST00000258201.4 - 20 3378 c.3131G>A c.(3130-3132)cGg>cAg p.R1044Q FHOD1_ENST00000567687.1_Missense_Mutation_p.R623Q NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1044 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AGCATCTCCCCGGCCTGGCCC 0.597000 16 81 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46911850 46911850 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:46911850G>A ENST00000378623.1 - 14 2135 c.1893C>T c.(1891-1893)caC>caT p.H631H NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 631 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CAGCCTTACGGTGACTCCCAT 0.597000 OREG0020948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 55 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131949411 131949411 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:131949411G>A ENST00000286355.5 - 5 3481 c.1389C>T c.(1387-1389)gaC>gaT p.D463D ADCY8_ENST00000377928.3_Silent_p.D463D|RP11-737F9.1_ENST00000523318.1_RNA NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 463 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGTAGTAGCAGTCCCCCAGGA 0.498000 HNSCC(32;0.087) 7 39 0 0 1 0 0 MMP12 4321 broad.mit.edu 37 11 102733708 102733708 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:102733708G>A ENST00000532855.1 - 0 1631 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) ATTACCTATGGTTTACAGATT 0.259000 3 9 0 0 1 0 0 INPP5F 22876 broad.mit.edu 37 10 121551083 121551083 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:121551083C>T ENST00000361976.2 + 4 536 c.370C>T c.(370-372)Cct>Tct p.P124S INPP5F_ENST00000369083.3_Missense_Mutation_p.P124S|INPP5F_ENST00000369081.1_Missense_Mutation_p.P28S NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 124 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CATACCATCTCCTGATGACTC 0.323000 7 85 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49654630 49654630 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:49654630C>T ENST00000249601.4 - 10 2197 c.1901G>A c.(1900-1902)cGa>cAa p.R634Q ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R650Q|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R475Q|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R544Q|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.R467Q|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R640Q|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.R525Q NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 634 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCGGGACATTCGTTTTCTCAG 0.498000 8 48 0 0 1 0 0 OTUB1 55611 broad.mit.edu 37 11 63764668 63764668 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:63764668C>T ENST00000541478.1 + 3 727 c.267C>T c.(265-267)ttC>ttT p.F89F OTUB1_ENST00000538426.1_Silent_p.F190F|OTUB1_ENST00000428192.2_Silent_p.F190F|OTUB1_ENST00000422031.2_Silent_p.F227F|OTUB1_ENST00000543004.1_Silent_p.F199F|OTUB1_ENST00000535715.1_Silent_p.F190F|OTUB1_ENST00000543988.1_Silent_p.F160F Q96FW1 OTUB1_HUMAN OTU domain, ubiquitin aldehyde binding 1 190 OTU. protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 GCAAGTTCTTCGAGCACTTCA 0.627000 18 81 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83455947 83455947 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:83455947C>T ENST00000334574.8 - 2 377 c.196G>A c.(196-198)Gac>Aac p.D66N FSD2_ENST00000541889.1_Missense_Mutation_p.D66N A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 66 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 TCTTGAAGGTCTCTTTGAGCC 0.443000 28 153 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72307196 72307196 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:72307196C>T ENST00000263563.6 + 18 2524 c.2256C>T c.(2254-2256)taC>taT p.Y752Y NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 TCTGCACCTACCGCCAGGTGA 0.647000 12 39 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739356 38739356 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:38739356C>T ENST00000449082.2 - 27 5354 c.5355G>A c.(5353-5355)ctG>ctA p.L1785L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1785 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCATCTGGATCAGTATATTTC 0.488000 19 64 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118344687 118344687 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:118344687C>T ENST00000534358.1 + 3 2836 c.2813C>T c.(2812-2814)tCa>tTa p.S938L KMT2A_ENST00000354520.4_Missense_Mutation_p.S938L|KMT2A_ENST00000389506.5_Missense_Mutation_p.S938L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AAGTCTTCATCACATGATTCT 0.413000 17 73 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6426893 6426893 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:6426893C>T ENST00000348035.4 + 2 299 c.86C>T c.(85-87)cCt>cTt p.P29L RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29L NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 29 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) AATGCATTTCCTGGAGAATAT 0.353000 12 80 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20044017 20044017 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:20044017G>A ENST00000379651.3 - 8 956 c.938C>T c.(937-939)cCa>cTa p.P313L MAP7D2_ENST00000543767.1_Missense_Mutation_p.P198L|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P354L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P268L|MAP7D2_ENST00000452324.3_Missense_Mutation_p.P261L NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 313 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 AGGAGACCCTGGGTAGGGAGG 0.493000 40 105 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72255943 72255943 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr13:72255943C>T ENST00000305425.4 - 2 1376 c.954G>A c.(952-954)ggG>ggA p.G318G DACH1_ENST00000359684.2_Silent_p.G318G|DACH1_ENST00000313174.7_Silent_p.G318G|DACH1_ENST00000354591.4_Silent_p.G318G NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 316 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GTGGAATTATCCCAGGAGACA 0.443000 8 56 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102087367 102087367 + Silent SNP C C T rs144660402 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:102087367C>T ENST00000356387.2 + 4 868 c.633C>T c.(631-633)ttC>ttT p.F211F ORAI2_ENST00000478730.1_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 211 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GCCTCATCTTCGTGGTCTTCA 0.667000 5 26 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31419781 31419781 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:31419781G>A ENST00000389202.2 + 10 1094 c.1045G>A c.(1045-1047)Gag>Aag p.E349K NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 349 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CTTCCAGCACGAGATGTCCCA 0.562000 6 37 0 0 1 0 0 RIC8B 55188 broad.mit.edu 37 12 107245347 107245347 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:107245347C>T ENST00000392837.4 + 7 1432 c.1281C>T c.(1279-1281)ttC>ttT p.F427F RIC8B_ENST00000355478.2_Silent_p.F387F|RIC8B_ENST00000392839.2_Silent_p.F427F|RIC8B_ENST00000549643.1_Intron Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 427 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 CTGCTGAATTCCTTTTTGTCC 0.408000 9 48 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125879757 125879757 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:125879757C>T ENST00000393434.2 - 2 415 c.66G>A c.(64-66)gaG>gaA p.E22E ALDH1L1_ENST00000393431.2_Silent_p.E22E|ALDH1L1_ENST00000452905.2_Silent_p.E22E|ALDH1L1_ENST00000472186.1_Silent_p.E22E|ALDH1L1_ENST00000273450.3_Silent_p.E32E|ALDH1L1_ENST00000455064.2_5'UTR NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 22 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CTTCGTGGCCCTCCTTCCTCA 0.567000 11 55 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554752 140554752 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:140554752G>A ENST00000231137.3 + 1 2510 c.2336G>A c.(2335-2337)aGg>aAg p.R779K NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 779 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCACAGGCAGGGAAGTGGAA 0.443000 19 55 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78319950 78319950 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:78319950C>T ENST00000582970.1 + 29 7958 c.7815C>T c.(7813-7815)atC>atT p.I2605I RNF213_ENST00000508628.2_Silent_p.I2654I|RNF213_ENST00000336301.6_Silent_p.I678I NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TTGAGTCCATCAGCCTAGATG 0.517000 9 79 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328094 57328094 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:57328094G>A ENST00000326441.9 - 10 2079 c.1716C>T c.(1714-1716)ttC>ttT p.F572F PEG3_ENST00000598410.1_Silent_p.F448F|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.F446F|PEG3_ENST00000423103.2_Silent_p.F572F|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 572 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F572L(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AACTATGAAGGAAGGTTTCCT 0.468000 19 112 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115856396 115856396 + Missense_Mutation SNP C C T rs141541753 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:115856396C>T ENST00000264363.2 - 6 2180 c.1502G>A c.(1501-1503)gGa>gAa p.G501E NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 501 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.G501E(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAGTTCACCTCCTCTGATACT 0.383000 20 77 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160523777 160523777 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:160523777G>A ENST00000368054.3 - 3 583 c.548C>T c.(547-549)aCt>aTt p.T183I CD84_ENST00000368051.3_Missense_Mutation_p.T183I|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Missense_Mutation_p.T69I|CD84_ENST00000368048.3_Missense_Mutation_p.T183I|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Missense_Mutation_p.T183I NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 183 Ig-like C2-type. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GTCCTCAGGAGTCTGGAAGAT 0.488000 23 77 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89924433 89924433 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:89924433G>A ENST00000405460.2 + 8 1389 c.1293G>A c.(1291-1293)gcG>gcA p.A431A NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 431 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATGTCTCTGCGAATTGGGTGT 0.418000 10 58 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113205879 113205879 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:113205879C>T ENST00000401783.2 - 27 4921 c.4585G>A c.(4585-4587)Gat>Aat p.D1529N SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1529N|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1506N NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1529 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AATTTCCCATCGATATAGACT 0.438000 7 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179412221 179412221 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:179412221C>T ENST00000589042.1 - 339 94356 c.94132G>A c.(94132-94134)Gaa>Aaa p.E31378K TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22505K|TTN_ENST00000460472.2_Missense_Mutation_p.E22313K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29737K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22438K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28810K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29737 Fibronectin type-III 129. 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) AAAGAATATTCCATGTATTTT 0.393000 5 25 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83932427 83932427 + Missense_Mutation SNP C C T rs149687703 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:83932427C>T ENST00000345382.2 - 4 1661 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E519K NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 526 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AATGGCATTTCGTTTGAAATG 0.488000 26 103 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369151 86369151 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr13:86369151G>A ENST00000400286.2 - 2 2091 c.1493C>T c.(1492-1494)cCt>cTt p.P498L NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 498 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATTACTTACAGGTAGATGGGT 0.403000 11 73 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 54095647 54095647 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:54095647C>T ENST00000502396.1 + 12 2886 c.2854C>T c.(2854-2856)Ctg>Ttg p.L952L MLIP_ENST00000274897.5_Silent_p.L417L|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 417 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 CTTCAGTCATCTGTCCTTCTC 0.488000 40 192 0 0 1 0 0 CBX7 23492 broad.mit.edu 37 22 39534665 39534665 + Silent SNP C C T rs150449795 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr22:39534665C>T ENST00000216133.5 - 4 427 c.222G>A c.(220-222)ccG>ccA p.P74P CBX7_ENST00000401405.3_Silent_p.P74P|RP4-742C19.8_ENST00000430647.1_RNA|CBX7_ENST00000475962.1_Intron NM_175709.3 NP_783640.1 O95931 CBX7_HUMAN chromobox homolog 7 74 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) GCTTGGGTTTCGGACCTCTCT 0.582000 16 84 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46780502 46780502 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr22:46780502G>A ENST00000262738.3 - 20 6820 c.6821C>T c.(6820-6822)cCc>cTc p.P2274L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2274 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) CAGCTCCCTGGGGAACTCTTC 0.542000 4 28 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162180 90162180 + RNA SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:90162180C>T ENST00000564451.1 + 0 1533 TUBB8P7_ENST00000567960.1_RNA CCTGTGACCCCCGTCATGGCC 0.562000 9 63 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142606682 142606682 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:142606682G>A ENST00000265310.1 - 14 2217 c.1869C>T c.(1867-1869)ttC>ttT p.F623F NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 623 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCCCCAGCCCGAATTCGCACC 0.617000 8 61 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141600146 141600146 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:141600146G>A ENST00000442267.2 - 5 875 c.801C>T c.(799-801)tcC>tcT p.S267S NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 267 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GTTTGGGCAGGGATCGATCTT 0.418000 45 177 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18692074 18692074 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:18692074G>A ENST00000251296.1 + 6 1281 c.898G>A c.(898-900)Gaa>Aaa p.E300K NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 300 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CGGCACTGTGGAAGTACGTGC 0.642000 22 92 0 0 1 0 0 IVL 3713 broad.mit.edu 37 1 152882347 152882347 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:152882347C>T ENST00000368764.3 + 2 138 c.74C>T c.(73-75)cCt>cTt p.P25L IVL_ENST00000392667.2_5'UTR P07476 INVO_HUMAN involucrin 25 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACTGTTCCTCCTCCAGTCAAT 0.552000 26 64 0 0 1 0 0 P2RY14 9934 broad.mit.edu 37 3 150931563 150931563 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:150931563C>T ENST00000309170.3 - 3 854 c.542G>A c.(541-543)cGg>cAg p.R181Q MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.R181Q|MED12L_ENST00000474524.1_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 181 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTGCCACTTCCGTCCCAGTTC 0.383000 11 135 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9982316 9982316 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:9982316G>A ENST00000506583.1 - 7 711 c.494C>T c.(493-495)cCc>cTc p.P165L SLC2A9_ENST00000309065.3_Missense_Mutation_p.P165L|SLC2A9_ENST00000264784.3_Missense_Mutation_p.P194L Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 194 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 GATCTCCTTGGGTGAGATCTC 0.582000 10 44 0 0 1 0 0 FAM92A1P2 403315 broad.mit.edu 37 4 183960166 183960166 + RNA SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:183960166C>T ENST00000502308.1 + 0 1349 NR_003612.1 CACCAGAGATCATGTCAGCTA 0.388000 4 44 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45459108 45459108 + RNA SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:45459108C>T ENST00000548424.1 + 0 448 CAAACAGATTCCGCATATTCA 0.483000 6 40 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75276590 75276590 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:75276590G>A ENST00000339859.4 - 19 3694 c.3594C>T c.(3592-3594)tcC>tcT p.S1198S USP54_ENST00000422491.2_Silent_p.S380S|USP54_ENST00000408019.1_Silent_p.S1198S|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000394811.2_Silent_p.S286S|USP54_ENST00000428547.1_Silent_p.S1048S|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000593790.1_RNA Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1198 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ACTCTTCCCAGGAAAGTGGTC 0.522000 26 209 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39226570 39226570 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:39226570C>T ENST00000340369.3 - 2 4595 c.4367G>A c.(4366-4368)gGg>gAg p.G1456E XIRP1_ENST00000421646.1_Missense_Mutation_p.G139E|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1456 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CTCAGGGGCCCCTTGGTGGGA 0.627000 19 87 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49049985 49049985 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:49049985C>T ENST00000395474.3 + 2 1388 c.1108C>T c.(1108-1110)Ctc>Ttc p.L370F WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.L289F NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 340 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) GGTCTCGGCTCTCTGCTTCAA 0.607000 16 67 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21078644 21078644 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:21078644G>A ENST00000261383.3 - 24 3477 c.3478C>T c.(3478-3480)Ctg>Ttg p.L1160L DNAH3_ENST00000415178.1_Silent_p.L1160L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1160 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TAATCATTCAGCCCTTTCTGG 0.448000 10 66 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38904066 38904066 + Silent SNP A A T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:38904066A>T ENST00000274276.3 + 8 1476 c.1074A>T c.(1072-1074)atA>atT p.I358I NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 358 Fibronectin type-III 1. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGCACTCCATAAGGAATAATT 0.313000 8 28 0 0 1 0 0 WNT1 7471 broad.mit.edu 37 12 49374390 49374390 + Missense_Mutation SNP G G C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:49374390G>C ENST00000293549.3 + 3 578 c.542G>C c.(541-543)gGc>gCc p.G181A NM_005430.3 NP_005421.1 P04628 WNT1_HUMAN wingless-type MMTV integration site family, member 1 181 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(357;0.244) CGCCTCTTCGGCCGGGAGTTC 0.667000 4 15 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87679330 87679330 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:87679330G>A ENST00000320005.5 - 6 722 c.675C>T c.(673-675)gtC>gtT p.V225V NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 225 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 AGGCAAGAGTGACAAGCAAGA 0.433000 11 35 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38781078 38781078 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:38781078G>A ENST00000449082.2 - 14 2207 c.2208C>T c.(2206-2208)atC>atT p.I736I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 736 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCACAGTGACGATGATGCAGT 0.453000 8 48 0 0 1 0 0 NAT9 26151 broad.mit.edu 37 17 72769804 72769804 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:72769804G>A ENST00000357814.3 - 3 174 c.101C>T c.(100-102)tCa>tTa p.S34L NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000582870.1_Missense_Mutation_p.S38L|NAT9_ENST00000578822.1_Missense_Mutation_p.S39L|NAT9_ENST00000580301.1_Missense_Mutation_p.S33L|NAT9_ENST00000583476.1_Missense_Mutation_p.S34L|NAT9_ENST00000581136.1_Missense_Mutation_p.S34L|NAT9_ENST00000580632.1_Missense_Mutation_p.S33L|NAT9_ENST00000583757.1_Missense_Mutation_p.S33L|NAT9_ENST00000582524.1_Missense_Mutation_p.S34L NM_015654.3 NP_056469.2 Q9BTE0 NAT9_HUMAN N-acetyltransferase 9 (GCN5-related, putative) 34 protein complex N-acetyltransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3) 8 CAGCTCCTCTGATTTCATCCA 0.567000 29 89 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114296129 114296129 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:114296129G>A ENST00000309235.5 + 4 770 c.612G>A c.(610-612)agG>agA p.R204R ZNF483_ENST00000358151.4_Silent_p.R204R|ZNF483_ENST00000355824.3_Silent_p.R204R NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 204 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 AAAACCTCAGGAACCTAGAAT 0.408000 25 109 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4889566 4889566 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:4889566G>A ENST00000361571.5 - 2 432 c.21C>T c.(19-21)tcC>tcT p.S7S CAMTA2_ENST00000348066.3_5'UTR|CAMTA2_ENST00000381311.5_Intron|CAMTA2_ENST00000358183.4_5'UTR|CAMTA2_ENST00000572543.1_5'UTR|CAMTA2_ENST00000414043.3_Silent_p.S7S NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 472 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GGGGCCGGGGGGAGGGGGAGT 0.582000 4 13 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124090761 124090761 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:124090761C>T ENST00000368994.2 + 12 1328 c.1077C>T c.(1075-1077)aaC>aaT p.N359N BTBD16_ENST00000260723.4_Silent_p.N358N Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 358 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TTACAGTCAACCATTACCACG 0.463000 8 59 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160913983 160913983 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:160913983G>A ENST00000335388.5 - 0 337 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GCAGTAGTTCGAGATCAAGCC 0.493000 17 102 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670364 131670364 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:131670364C>T ENST00000259324.5 + 3 1444 c.921C>T c.(919-921)acC>acT p.T307T LRRC8A_ENST00000372600.4_Silent_p.T307T|LRRC8A_ENST00000372599.3_Silent_p.T307T NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 307 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 GCTACCGCACCTACCGCTGTG 0.542000 15 119 0 0 1 0 0 COPG1 22820 broad.mit.edu 37 3 128984557 128984557 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:128984557C>T ENST00000314797.6 + 14 1494 c.1390C>T c.(1390-1392)Ccc>Tcc p.P464S NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 464 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity CCAGGAGGGGCCCAAGACCAC 0.572000 8 59 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56474102 56474102 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:56474102C>T ENST00000370754.5 - 39 5224 c.5225G>A c.(5224-5226)gGa>gAa p.G1742E DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.G1564E|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.G1564E|DST_ENST00000446842.2_Missense_Mutation_p.G1238E|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.G1564E Q03001 DYST_HUMAN dystonin 1564 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) AAGGACTTCTCCAGTTGTCTG 0.423000 44 194 0 0 1 0 0 GPR183 1880 broad.mit.edu 37 13 99948259 99948259 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr13:99948259C>T ENST00000376414.4 - 2 224 c.141G>A c.(139-141)gtG>gtA p.V47V UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron NM_004951.4 NP_004942.1 P32249 GP183_HUMAN G protein-coupled receptor 183 47 humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 23 GTAAGTTTCCCACGAGCCCAA 0.428000 15 85 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1816234 1816234 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:1816234C>T ENST00000250894.4 + 22 2797 c.2640C>T c.(2638-2640)acC>acT p.T880T MAPK8IP3_ENST00000356010.5_Silent_p.T874T NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 880 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 AGGTGGCCACCATCGCCAACG 0.647000 11 53 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105405110 105405110 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:105405110C>T ENST00000351513.2 - 8 1477 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 449 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) ACTCCGGCTTCATATACCACT 0.453000 32 138 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139272466 139272466 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:139272466C>T ENST00000298532.2 - 21 4181 c.3813G>A c.(3811-3813)ctG>ctA p.L1271L NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 1271 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) ACAGCAGGCCCAGGTCCAGGG 0.721000 4 10 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41319823 41319823 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:41319823G>A ENST00000361937.3 - 25 3443 c.3019C>T c.(3019-3021)Cca>Tca p.P1007S INO80_ENST00000401393.3_Missense_Mutation_p.P1007S|RP11-540O11.4_ENST00000560178.1_RNA Q9ULG1 INO80_HUMAN INO80 complex subunit 1007 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AAAAAAGATGGCAGCTCAGTG 0.498000 10 50 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154525457 154525457 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:154525457C>T ENST00000409663.3 + 25 3342 c.3290C>T c.(3289-3291)gCc>gTc p.A1097V KIAA0922_ENST00000409959.3_Missense_Mutation_p.A1098V|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A1014V NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1097 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GAGAACACAGCCGAGTTCAAG 0.423000 14 66 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99725877 99725877 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:99725877G>A ENST00000393483.3 - 6 870 c.26C>T c.(25-27)cCa>cTa p.P9L TSGA10_ENST00000355053.4_Missense_Mutation_p.P9L|TSGA10_ENST00000542655.1_Missense_Mutation_p.P9L|TSGA10_ENST00000410001.1_Missense_Mutation_p.P9L|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.P9L NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 9 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 TGGGCGTCTTGGACTTTTAGA 0.388000 15 101 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11325238 11325238 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:11325238G>A ENST00000294618.7 - 33 4205 c.4194C>T c.(4192-4194)atC>atT p.I1398I DOCK6_ENST00000319867.7_Silent_p.I737I|CTC-510F12.2_ENST00000588634.1_RNA NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1398 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 CCTGCACGATGATCTCCAGTG 0.557000 17 36 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84129265 84129265 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:84129265G>A ENST00000343411.3 - 4 1062 c.567C>T c.(565-567)atC>atT p.I189I NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 189 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CCTGGCGCGGGATGGCTCTCA 0.587000 13 98 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5235132 5235132 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:5235132C>T ENST00000274181.7 + 13 1994 c.1856C>T c.(1855-1857)tCg>tTg p.S619L NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 619 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TCCAGGCCATCGCATGGAGGG 0.428000 6 70 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C A rs121913500 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:209113112C>A ENST00000415913.1 - 4 776 c.395G>T c.(394-396)cGt>cTt p.R132L IDH1_ENST00000345146.2_Missense_Mutation_p.R132L|IDH1_ENST00000446179.1_Missense_Mutation_p.R132L O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 20 56 1.01871e-10 1.03866e-10 1 1 0 CLIC6 54102 broad.mit.edu 37 21 36079601 36079601 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr21:36079601C>T ENST00000360731.3 + 3 1452 c.1452C>T c.(1450-1452)atC>atT p.I484I CLIC6_ENST00000349499.2_Silent_p.I466I Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 484 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GTGAGAGTATCGGAAATTGCC 0.438000 9 72 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42293128 42293128 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr22:42293128C>T ENST00000361204.4 + 14 2734 c.2568C>T c.(2566-2568)ccC>ccT p.P856P SREBF2_ENST00000491541.1_3'UTR NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 856 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TTATGAGCCCCCCACTCTCCA 0.527000 4 28 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72699182 72699182 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:72699182C>T ENST00000469092.1 - 4 723 c.447G>A c.(445-447)ttG>ttA p.L149L CD300LF_ENST00000326165.6_Silent_p.L146L|CD300LF_ENST00000583937.1_Silent_p.L161L|CD300LF_ENST00000343125.4_Silent_p.L149L|CD300LF_ENST00000464910.1_Silent_p.L149L|CD300LF_ENST00000581500.1_Silent_p.L164L|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000301573.9_Silent_p.L146L|CD300LF_ENST00000361254.4_Silent_p.L164L Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 146 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ACCTGTTGTCCAAGTGGTGGC 0.552000 18 56 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902471 247902471 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:247902471C>T ENST00000283225.2 + 1 555 c.555C>T c.(553-555)ctC>ctT p.L185L 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 TACTAAAGCTCACTTGTTCTA 0.423000 60 224 0 0 1 0 0 TMEM119 338773 broad.mit.edu 37 12 108985573 108985573 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:108985573C>T ENST00000392806.3 - 2 755 c.587G>A c.(586-588)gGa>gAa p.G196E NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 196 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CATCCTGGCTCCGTCCCCACC 0.677000 10 29 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45169849 45169849 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:45169849C>T ENST00000429094.2 - 8 1351 c.847G>A c.(847-849)Gaa>Aaa p.E283K NELL2_ENST00000551601.1_Missense_Mutation_p.E282K|NELL2_ENST00000437801.2_Missense_Mutation_p.E333K|NELL2_ENST00000395487.2_Missense_Mutation_p.E282K|NELL2_ENST00000333837.4_Missense_Mutation_p.E306K|NELL2_ENST00000549027.1_Missense_Mutation_p.E282K|NELL2_ENST00000452445.2_Missense_Mutation_p.E283K NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 283 VWFC 1. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GACTCAAATTCTCGGTAGGTG 0.458000 6 60 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96829085 96829085 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:96829085C>T ENST00000371270.3 - 1 169 c.75G>A c.(73-75)agG>agA p.R25R CYP2C8_ENST00000535898.1_5'UTR|CYP2C8_ENST00000539050.1_5'UTR NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 25 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCTTCCTTCTCCTACAGCTCT 0.433000 21 70 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94039091 94039091 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:94039091C>T ENST00000297268.6 + 19 1464 c.993C>T c.(991-993)ggC>ggT p.G331G NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 331 G -> D (in OI3). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GTATTCCTGGCCCTGTTGGTG 0.582000 HNSCC(75;0.22) 9 67 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21224993 21224993 + Missense_Mutation SNP G G T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:21224993G>T ENST00000233242.1 - 29 13428 c.13301C>A c.(13300-13302)tCc>tAc p.S4434Y NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4434 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) TGAGAGTTGGGAAGTAAAGTT 0.378000 13 72 7.03913e-09 7.16693e-09 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238249693 238249693 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:238249693G>A ENST00000295550.4 - 38 8318 c.7866C>T c.(7864-7866)ttC>ttT p.F2622F COL6A3_ENST00000409809.1_Silent_p.F2416F|COL6A3_ENST00000353578.4_Silent_p.F2416F|COL6A3_ENST00000347401.3_Silent_p.F2421F|COL6A3_ENST00000346358.4_Silent_p.F2422F|COL6A3_ENST00000472056.1_Silent_p.F2015F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2622 Nonhelical region.|VWFA 12. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGTCTAAGATGAAAGCCATGT 0.532000 26 120 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14954331 14954331 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrY:14954331C>T ENST00000338981.3 + 38 7323 c.6378C>T c.(6376-6378)caC>caT p.H2126H USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 2126 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TTATTGCACACTTTTCCTTGC 0.388000 25 59 0 0 1 0 0 LHX4 89884 broad.mit.edu 37 1 180243486 180243486 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:180243486C>T ENST00000263726.2 + 6 1189 c.945C>T c.(943-945)tcC>tcT p.S315S RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 315 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 AGTCTCCATCCTCCATATCGT 0.547000 61 157 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95523659 95523659 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:95523659G>A ENST00000297591.5 - 13 3219 c.3144C>T c.(3142-3144)ccC>ccT p.P1048P KIAA1429_ENST00000437199.1_Silent_p.P1048P|KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000421249.2_Silent_p.P1048P NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1048 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GACCTGAGAGGGGGATAGAGC 0.393000 4 40 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56329469 56329469 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:56329469C>T ENST00000443188.1 - 4 782 c.72G>A c.(70-72)caG>caA p.Q24Q NLRP11_ENST00000589093.1_Silent_p.Q24Q|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Silent_p.Q24Q|NLRP11_ENST00000360133.3_Silent_p.Q24Q NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 24 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TCTTAAAACTCTGAAATTCCT 0.433000 12 72 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123983703 123983703 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:123983703G>A ENST00000306315.5 - 4 2809 c.2374C>T c.(2374-2376)Ccc>Tcc p.P792S ZNF608_ENST00000504926.1_Missense_Mutation_p.P365S NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 792 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) ATAATTGTGGGCTTTGGTTGA 0.488000 13 101 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68673685 68673685 + Missense_Mutation SNP C C T rs145237838 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:68673685C>T ENST00000255078.3 + 2 346 c.235C>T c.(235-237)Ccc>Tcc p.P79S IGHMBP2_ENST00000539224.1_Missense_Mutation_p.P79S NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 79 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGCAGCTCTTCCCAGTAACAG 0.537000 18 63 0 0 1 0 0 USP5 8078 broad.mit.edu 37 12 6972536 6972536 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:6972536C>T ENST00000229268.8 + 15 2001 c.1949C>T c.(1948-1950)cCg>cTg p.P650L USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Intron NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 650 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 TTCTCCTCTCCGACATGTTAG 0.567000 11 100 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70048709 70048709 + Missense_Mutation SNP T T A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:70048709T>A ENST00000330891.5 - 10 2211 c.1985A>T c.(1984-1986)gAa>gTa p.E662V BEST3_ENST00000553096.1_Missense_Mutation_p.E556V|BEST3_ENST00000488961.1_Missense_Mutation_p.E449V|BEST3_ENST00000331471.4_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 662 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TTCCTCAGTTTCCTTGTTCAG 0.458000 8 67 0 0 1 0 0 FOLR3 2352 broad.mit.edu 37 11 71849902 71849902 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:71849902C>T ENST00000445078.2 + 3 257 c.186C>T c.(184-186)tcC>tcT p.S62S FOLR3_ENST00000456237.1_Silent_p.S64S|FOLR3_ENST00000442948.2_Intron P41439 FOLR3_HUMAN folate receptor 3 (gamma) 49 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) AAGGGCCCTCCCCAGGAAGTG 0.527000 3 11 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90133292 90133292 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:90133292C>T ENST00000449207.2 - 4 347 c.328G>A c.(328-330)Gga>Aga p.G110R PRDM7_ENST00000407825.1_5'UTR NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 110 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCTGTTCTCCTCTGAAGGCC 0.388000 35 192 0 0 1 0 0 TMEM206 55248 broad.mit.edu 37 1 212538575 212538575 + Silent SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:212538575T>C ENST00000261455.4 - 8 1172 c.1035A>G c.(1033-1035)gcA>gcG p.A345A TMEM206_ENST00000535273.1_Silent_p.A406A NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 345 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TGTGGCTCGTTGCCTGACCTC 0.418000 48 117 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52821989 52821989 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:52821989C>T ENST00000405128.3 + 1 149 c.10C>T c.(10-12)Ccc>Tcc p.P4S ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000273283.2_Intron|ITIH1_ENST00000540715.1_Intron|ITIH1_ENST00000537050.1_Intron P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 0 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) AATGCCACTCCCCCTCCCATC 0.622000 17 112 0 0 1 0 0 UNK 85451 broad.mit.edu 37 17 73808245 73808245 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:73808245C>T ENST00000293218.3 + 4 595 c.595C>T c.(595-597)Cgt>Tgt p.R199C UNK_ENST00000589666.1_Missense_Mutation_p.R123C Q9C0B0 UNK_HUMAN unkempt family zinc finger 123 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GTACCACCTTCGTTACTACAA 0.567000 8 57 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192700687 192700687 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:192700687C>T ENST00000304141.4 - 2 1569 c.1240G>A c.(1240-1242)Gtg>Atg p.V414M NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 414 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCGGGCTGCACGGGGTCCCCA 0.632000 6 61 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100912815 100912815 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:100912815C>T ENST00000325455.5 - 7 3960 c.2507G>A c.(2506-2508)cGa>cAa p.R836Q PGR_ENST00000534013.1_Missense_Mutation_p.R242Q|PGR_ENST00000263463.5_Missense_Mutation_p.R734Q NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 836 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.R836Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) GGTTTGACTTCGTAGCCCTTC 0.383000 11 53 0 0 1 0 0 GPALPP1 55425 broad.mit.edu 37 13 45589219 45589219 + Splice_Site SNP G G C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr13:45589219G>C ENST00000361121.2 + 5 575 c.e5+1 KIAA1704_ENST00000379151.4_Splice_Site|KIAA1704_ENST00000357537.3_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) AGGAGATGATGTAAGTTTTAA 0.274000 6 42 0 0 1 0 0 KCNC3 3748 broad.mit.edu 37 19 50824031 50824031 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:50824031G>A ENST00000376959.2 - 3 2152 c.1989C>T c.(1987-1989)ccC>ccT p.P663P KCNC3_ENST00000474951.1_5'UTR|KCNC3_ENST00000477616.1_Silent_p.P663P|KCNC3_ENST00000391818.2_5'UTR Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 663 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GATCCCCATTGGGGCGAGGAT 0.622000 6 33 0 0 1 0 0 PLIN3 10226 broad.mit.edu 37 19 4852125 4852125 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:4852125G>A ENST00000221957.4 - 5 713 c.537C>T c.(535-537)tcC>tcT p.S179S PLIN3_ENST00000585479.1_Silent_p.S179S|PLIN3_ENST00000592528.1_Silent_p.S167S NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 179 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) GGCCCAAGCGGGAGCCCATGA 0.647000 OREG0025175 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 30 0 0 1 0 0 MURC 347273 broad.mit.edu 37 9 103348617 103348617 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:103348617C>T ENST00000307584.5 + 2 1044 c.979C>T c.(979-981)Cct>Tct p.P327S NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 327 cell differentiation|muscle organ development|transcription, DNA-dependent endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) GCCGGTGTATCCTCCCCATGA 0.493000 6 52 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220467231 220467231 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:220467231C>T ENST00000456909.1 + 6 570 c.480C>T c.(478-480)ctC>ctT p.L160L STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Silent_p.L171L Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 171 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) GCTCTGCCCTCCCTTGGCTGG 0.597000 8 70 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43985997 43985997 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr22:43985997C>T ENST00000262726.7 - 24 3242 c.2989G>A c.(2989-2991)Gga>Aga p.G997R EFCAB6_ENST00000396231.2_Missense_Mutation_p.G845R NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 997 EF-hand 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AGAGAACATCCACATTCTTCC 0.428000 27 159 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152500560 152500560 + Nonsense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:152500560C>T ENST00000397345.3 - 57 7930 c.7728G>A c.(7726-7728)tgG>tgA p.W2576* NEB_ENST00000603639.1_Nonsense_Mutation_p.W2576*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W2576*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W2576*|NEB_ENST00000409198.1_Nonsense_Mutation_p.W2576*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W2576* NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2576 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CATGCATGGACCACATCATCT 0.507000 66 398 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153416416 153416416 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:153416416C>T ENST00000369951.4 + 2 461 c.401C>T c.(400-402)tCc>tTc p.S134F OPN1LW_ENST00000463296.1_3'UTR NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 134 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TACACCGTCTCCCTGTGTGGT 0.612000 13 31 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40853702 40853702 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr18:40853702G>A ENST00000255224.3 - 2 1060 c.692C>T c.(691-693)aCc>aTc p.T231I SYT4_ENST00000590752.1_Missense_Mutation_p.T213I|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 231 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TTGGATTTGGGTGTAGGGTAT 0.403000 16 107 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191173 152191173 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:152191173C>T ENST00000368801.2 - 3 3007 c.2932G>A c.(2932-2934)Ggt>Agt p.G978S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 978 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAAGACGAACCTGAGCTAGAT 0.572000 53 389 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92307925 92307925 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:92307925G>A ENST00000276609.3 + 4 710 c.471G>A c.(469-471)gtG>gtA p.V157V SLC26A7_ENST00000523719.1_Silent_p.V157V|SLC26A7_ENST00000309536.2_Silent_p.V157V NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 157 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TGGGAGGTGTGATTCAGGTAA 0.453000 5 51 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73751729 73751729 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:73751729G>A ENST00000342056.2 + 3 958 c.560G>A c.(559-561)cGa>cAa p.R187Q KCNQ5_ENST00000414165.2_Missense_Mutation_p.R187Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R187Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R187Q|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R187Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R187Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R187Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R187Q NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 187 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TGCTGTTGTCGATATAGAGGA 0.428000 42 217 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175763826 175763826 + Missense_Mutation SNP C C G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:175763826C>G ENST00000443967.1 + 10 2625 c.2218C>G c.(2218-2220)Ctg>Gtg p.L740V SIMC1_ENST00000430704.2_Missense_Mutation_p.L325V|SIMC1_ENST00000341199.6_Missense_Mutation_p.L325V|SIMC1_ENST00000332772.4_Missense_Mutation_p.L201V SUMO-interacting motifs containing 1 GCCTCTGTCTCTGGCCCAGGC 0.488000 16 71 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92526108 92526108 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:92526108G>A ENST00000298047.6 + 8 4804 c.4787G>A c.(4786-4788)gGa>gAa p.G1596E FAT3_ENST00000525166.1_Missense_Mutation_p.G1446E|FAT3_ENST00000409404.2_Missense_Mutation_p.G1596E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1596 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAAGACAAAGGAGAAAATGCA 0.443000 TCGA Ovarian(4;0.039) 8 57 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105187113 105187113 + Silent SNP C C T rs144287622 byFrequency TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:105187113C>T ENST00000369797.3 + 21 3427 c.3333C>T c.(3331-3333)ttC>ttT p.F1111F NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1111 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ACCCCAGATTCGTTCGAACCA 0.478000 35 109 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165218847 165218847 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:165218847G>A ENST00000342310.3 - 4 676 c.294C>T c.(292-294)ttC>ttT p.F98F LMX1A_ENST00000367893.4_Silent_p.F98F|LMX1A_ENST00000294816.2_Silent_p.F98F NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 98 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CGATGGCCTCGAAGCAGCCCC 0.542000 4 34 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38627269 38627269 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:38627269G>A ENST00000413689.1 - 16 2893 c.2700C>T c.(2698-2700)atC>atT p.I900I SCN5A_ENST00000450102.2_Silent_p.I900I|SCN5A_ENST00000449557.2_Silent_p.I900I|SCN5A_ENST00000425664.1_Silent_p.I900I|SCN5A_ENST00000455624.2_Silent_p.I900I|SCN5A_ENST00000423572.2_Silent_p.I900I|SCN5A_ENST00000414099.2_Silent_p.I900I|SCN5A_ENST00000451551.2_Silent_p.I900I|SCN5A_ENST00000443581.1_Silent_p.I900I|SCN5A_ENST00000333535.4_Silent_p.I900I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 900 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ACATGGTCTCGATCCACTCTC 0.542000 18 83 0 0 1 0 0 SCTR 6344 broad.mit.edu 37 2 120197774 120197774 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:120197774G>A ENST00000019103.5 - 13 1509 c.1242C>T c.(1240-1242)caC>caT p.H414H NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 414 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) AGGCCACGGGGTGCAGTGGGA 0.632000 5 22 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296361 39296361 + Missense_Mutation SNP A A G rs146882220 by1000genomes TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:39296361A>G ENST00000345847.4 - 1 378 c.379T>C c.(379-381)Tcc>Ccc p.S127P NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 123 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 CAGCACTGGGACCTGCAGCAC 0.652000 4 37 0 0 1 0 0 NACAP1 83955 broad.mit.edu 37 8 102381374 102381374 + RNA SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:102381374G>A ENST00000419462.1 + 0 786 NR_002182.1 GGAAGGCTAGGTTCAAACTGG 0.443000 45 214 0 0 1 0 0 FOXH1 8928 broad.mit.edu 37 8 145700115 145700115 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:145700115C>T ENST00000377317.4 - 3 1182 c.604G>A c.(604-606)Gag>Aag p.E202K NM_003923.2 NP_003914.1 O75593 FOXH1_HUMAN forkhead box H1 202 axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GGCACCGCCTCCTCCCCACTG 0.692000 3 12 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23521247 23521247 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:23521247G>A ENST00000296682.3 + 6 649 c.467G>A c.(466-468)gGa>gAa p.G156E NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 156 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCCCCTTCTGGAGAAGCAAGT 0.418000 HNSCC(3;0.000094) 13 85 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38545122 38545122 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:38545122C>T ENST00000287675.5 + 4 566 c.470C>T c.(469-471)aCc>aTc p.T157I EXOG_ENST00000422077.2_Missense_Mutation_p.T107I|EXOG_ENST00000358249.2_Missense_Mutation_p.T17I NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 157 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 ATGGCTGAAACCTTTTACCTT 0.328000 13 83 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211066 38211066 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr13:38211066C>T ENST00000379705.3 - 11 3765 c.2908G>A c.(2908-2910)Gaa>Aaa p.E970K TRPC4_ENST00000379681.3_Missense_Mutation_p.E975K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E821K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E797K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.E829K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E829K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E797K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E886K Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 970 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.E970K(1) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ACGTAATCTTCGTGGGTGACT 0.433000 18 68 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179665314 179665314 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:179665314G>A ENST00000589042.1 - 4 615 c.391C>T c.(391-393)Cct>Tct p.P131S TTN_ENST00000342175.6_Missense_Mutation_p.P131S|TTN_ENST00000460472.2_Missense_Mutation_p.P131S|TTN_ENST00000591111.1_Missense_Mutation_p.P131S|TTN_ENST00000360870.5_Missense_Mutation_p.P131S|TTN_ENST00000359218.5_Missense_Mutation_p.P131S|TTN_ENST00000342992.6_Missense_Mutation_p.P131S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 131 Ig-like 2. 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) ACAGGTGTAGGGATTCCAGTC 0.517000 24 98 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222899 140222899 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:140222899G>A ENST00000531613.1 + 1 1993 c.1993G>A c.(1993-1995)Gtt>Att p.V665I PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V665I|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGCCACGGTTCTGGTGTC 0.647000 14 67 0 0 1 0 0 CUZD1 50624 broad.mit.edu 37 10 124596401 124596401 + Missense_Mutation SNP A A G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:124596401A>G ENST00000368904.1 - 7 1712 c.763T>C c.(763-765)Tac>Cac p.Y255H CUZD1_ENST00000545804.1_Missense_Mutation_p.Y255H|CUZD1_ENST00000392790.1_Missense_Mutation_p.Y255H Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 255 CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) AATCCCCGGTAAGAATTGGCA 0.423000 31 133 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5463182 5463182 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:5463182G>A ENST00000345221.3 - 4 1388 c.834C>T c.(832-834)ttC>ttT p.F278F NLRP1_ENST00000572272.1_Silent_p.F278F|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.F278F|NLRP1_ENST00000354411.3_Silent_p.F278F|NLRP1_ENST00000577119.1_Silent_p.F278F|NLRP1_ENST00000262467.5_Silent_p.F278F NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 278 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCAGCTGTGTGAATTTTTGGT 0.502000 31 216 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92102787 92102787 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:92102787C>T ENST00000256343.3 - 17 1880 c.1724G>A c.(1723-1725)gGa>gAa p.G575E NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 575 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TATCACTTTTCCATAGTGTAT 0.368000 12 114 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249636 52249636 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:52249636G>A ENST00000595042.1 - 3 753 c.612C>T c.(610-612)atC>atT p.I204I FPR1_ENST00000304748.4_Silent_p.I204I NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 204 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) TGATGAACCGGATGATGCCTC 0.512000 22 72 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43477637 43477637 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:43477637G>A ENST00000395891.1 + 9 1442 c.837G>A c.(835-837)ctG>ctA p.L279L HECW1_ENST00000453890.1_Silent_p.L279L|HECW1_ENST00000471043.1_3'UTR NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 279 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CTGACGTGCTGGAAATTGAGG 0.498000 18 107 0 0 1 0 0 PPTC7 160760 broad.mit.edu 37 12 110989647 110989647 + Missense_Mutation SNP C C A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:110989647C>A ENST00000354300.3 - 2 638 c.350G>T c.(349-351)gGa>gTa p.G117V NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 117 PP2C-like. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 GGTGAGAATTCCAATGGGATT 0.428000 39 166 6.2361e-21 6.36712e-21 1 1 0 DMRT3 58524 broad.mit.edu 37 9 990217 990217 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:990217G>A ENST00000190165.2 + 2 669 c.631G>A c.(631-633)Gga>Aga p.G211R NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 211 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CCAGAAAAACGGAGGCAACCC 0.602000 11 62 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40642347 40642347 + Silent SNP G G A rs7282000 byFrequency TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr21:40642347G>A ENST00000342449.3 - 14 1335 c.1257C>T c.(1255-1257)tcC>tcT p.S419S BRWD1_ENST00000333229.2_Silent_p.S419S|BRWD1_ENST00000380800.3_Silent_p.S419S NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTTCCTCTTCGGAAGATAAGT 0.323000 3 11 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49377075 49377075 + Silent SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:49377075T>C ENST00000200453.5 + 2 854 c.585T>C c.(583-585)gaT>gaC p.D195D NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 195 Glu-rich. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) AGGAGGACGATGAAGAAGCTG 0.532000 7 66 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124064440 124064440 + Missense_Mutation SNP G G C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:124064440G>C ENST00000373823.3 + 10 1096 c.191G>C c.(190-192)tGg>tCg p.W64S GSN_ENST00000341272.2_Missense_Mutation_p.W64S|GSN_ENST00000373818.4_Missense_Mutation_p.W115S|GSN_ENST00000436847.1_Missense_Mutation_p.W75S|GSN_ENST00000373808.2_Missense_Mutation_p.W64S|GSN_ENST00000394353.2_Missense_Mutation_p.W75S|GSN_ENST00000412819.1_Missense_Mutation_p.W64S|GSN_ENST00000449733.1_Missense_Mutation_p.W64S|GSN_ENST00000545652.1_Missense_Mutation_p.W72S P06396 GELS_HUMAN gelsolin 115 Actin-severing (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 CTCCACTACTGGCTGGGTGAG 0.587000 9 59 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2716177 2716177 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:2716177G>A ENST00000399655.1 + 26 3502 c.3237G>A c.(3235-3237)ggG>ggA p.G1079G CACNA1C_ENST00000480911.1_Silent_p.G1079G|CACNA1C_ENST00000399634.1_Silent_p.G1079G|CACNA1C_ENST00000399644.1_Silent_p.G1079G|CACNA1C_ENST00000399591.1_Silent_p.G1079G|CACNA1C_ENST00000399597.1_Silent_p.G1079G|CACNA1C_ENST00000347598.4_Silent_p.G1099G|CACNA1C_ENST00000399629.1_Silent_p.G1079G|CACNA1C_ENST00000344100.3_Silent_p.G1079G|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399641.1_Silent_p.G1079G|CACNA1C_ENST00000399649.1_Silent_p.G1079G|CACNA1C_ENST00000402845.3_Silent_p.G1079G|CACNA1C_ENST00000399603.1_Silent_p.G1079G|CACNA1C_ENST00000399621.1_Silent_p.G1079G|CACNA1C_ENST00000399617.1_Silent_p.G1079G|CACNA1C_ENST00000327702.7_Silent_p.G1079G|CACNA1C_ENST00000335762.5_Silent_p.G1104G|CACNA1C_ENST00000399638.1_Silent_p.G1079G|CACNA1C_ENST00000399601.1_Silent_p.G1079G|CACNA1C_ENST00000399637.1_Silent_p.G1079G|CACNA1C_ENST00000399595.1_Silent_p.G1079G|CACNA1C_ENST00000406454.3_Silent_p.G1079G|CACNA1C_ENST00000399606.1_Silent_p.G1099G NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1099 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACAAAGACGGGGAGGTTGACC 0.552000 4 24 0 0 1 0 0 MBOAT7 79143 broad.mit.edu 37 19 54677874 54677874 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:54677874G>A ENST00000245615.1 - 8 1763 c.1283C>T c.(1282-1284)tCc>tTc p.S428F MBOAT7_ENST00000431666.2_Missense_Mutation_p.S355F|MBOAT7_ENST00000338624.6_Missense_Mutation_p.S355F NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 428 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAAGTAGATGGAGGCCCAGTA 0.642000 11 73 0 0 1 0 0 BMPR1A 657 broad.mit.edu 37 10 88672037 88672037 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:88672037C>T ENST00000372037.2 + 8 1108 c.571C>T c.(571-573)Cgt>Tgt p.R191C NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 191 BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 TCGTTACAATCGTGATTTGGA 0.353000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 8 63 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10366918 10366918 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:10366918C>T ENST00000255381.2 - 8 801 c.691G>A c.(691-693)Gaa>Aaa p.E231K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 231 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CCGAAGGCTTCCAGTAGGGGG 0.413000 7 70 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28967304 28967304 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:28967304C>T ENST00000377179.3 - 5 782 c.270G>A c.(268-270)aaG>aaA p.K90K ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 ACATCACATCCTTATAGAGAT 0.383000 25 90 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43258631 43258631 + Nonsense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:43258631C>T ENST00000404209.4 - 5 1193 c.1097G>A c.(1096-1098)tGg>tAg p.W366* PSG8_ENST00000401467.2_Nonsense_Mutation_p.W273*|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Nonsense_Mutation_p.W366*|PSG8_ENST00000406636.3_Nonsense_Mutation_p.W244* NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 366 Ig-like C2-type 3. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) ATTAATTGTCCAAGAATACTG 0.458000 57 344 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9033650 9033650 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:9033650G>A ENST00000397910.4 - 9 36490 c.36287C>T c.(36286-36288)tCc>tTc p.S12096F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12098 SEA 1. 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 GAACTTCCTGGAACCAGGGTG 0.587000 9 70 0 0 1 0 0 APOA2 336 broad.mit.edu 37 1 161192228 161192228 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:161192228G>A ENST00000594609.1 + 2 163 c.163G>A c.(163-165)Gaa>Aaa p.E55K APOA2_ENST00000367990.3_Silent_p.F90F|APOA2_ENST00000481413.1_5'UTR CAAGTTCCACGAAATAGCTCA 0.522000 48 156 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 167760167 167760167 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:167760167C>T ENST00000409195.1 + 2 264 c.175C>T c.(175-177)Ccc>Tcc p.P59S XIRP2_ENST00000295237.9_Missense_Mutation_p.P59S|XIRP2_ENST00000409043.1_Missense_Mutation_p.P59S|XIRP2_ENST00000409728.1_Missense_Mutation_p.P59S|XIRP2_ENST00000409756.2_Missense_Mutation_p.P59S|XIRP2_ENST00000420519.1_Missense_Mutation_p.P59S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCTTTGGATCCCACAAGTCT 0.498000 14 46 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8587370 8587370 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:8587370G>A ENST00000338257.8 - 27 3378 c.3111C>T c.(3109-3111)ccC>ccT p.P1037P NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 1037 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 TCCGAGGCTGGGGCTTGGGTC 0.632000 3 18 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143135 55143135 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:55143135C>T ENST00000396331.1 + 5 612 c.255C>T c.(253-255)atC>atT p.I85I LILRB1_ENST00000396317.1_Silent_p.I85I|LILRB1_ENST00000448689.1_Silent_p.I85I|LILRB1_ENST00000418536.2_Silent_p.I85I|LILRB1_ENST00000396327.3_Silent_p.I85I|LILRB1_ENST00000396315.1_Silent_p.I85I|LILRB1_ENST00000434867.2_Silent_p.I85I|LILRB1_ENST00000396321.2_Silent_p.I85I|LILRB1_ENST00000427581.2_Silent_p.I121I|LILRB1_ENST00000324602.7_Silent_p.I85I|LILRB1_ENST00000396332.4_Silent_p.I85I NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 85 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AGTTCCCCATCCCATCCATCA 0.557000 HNSCC(37;0.09) 20 102 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 703431 703431 + Missense_Mutation SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:703431T>C ENST00000549091.1 + 11 1305 c.1213T>C c.(1213-1215)Ttc>Ctc p.F405L WDR90_ENST00000293879.4_Missense_Mutation_p.F405L NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 405 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GCAGCGCTTCTTCCTTGGCCA 0.677000 10 43 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2888335 2888335 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:2888335G>A ENST00000254695.8 + 11 878 c.788G>A c.(787-789)gGa>gAa p.G263E RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G263E|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G248E|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G244E NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 263 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 TTCAAATTCGGAGTCATTTAT 0.413000 23 185 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129772231 129772231 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:129772231C>T ENST00000358825.5 - 22 3691 c.3460G>A c.(3460-3462)Gaa>Aaa p.E1154K PRDM10_ENST00000528746.1_Missense_Mutation_p.E1111K|PRDM10_ENST00000360871.3_Missense_Mutation_p.E1150K|PRDM10_ENST00000304538.6_Missense_Mutation_p.E1017K|PRDM10_ENST00000526082.1_Missense_Mutation_p.E1068K|PRDM10_ENST00000423662.2_Missense_Mutation_p.E1055K NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E1150K(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) ATATGCACTTCGCTGCTTCCG 0.542000 29 97 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44071655 44071655 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:44071655G>A ENST00000272286.2 + 2 163 c.73G>A c.(73-75)Gat>Aat p.D25N NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 25 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GGGCCTCCAGGATAGATTGTT 0.522000 5 20 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138187013 138187013 + Missense_Mutation SNP A A C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:138187013A>C ENST00000389567.4 + 12 1471 c.1285A>C c.(1285-1287)Act>Cct p.T429P NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 429 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 TTCATTGCTTACTGACCAAGA 0.577000 7 39 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82560193 82560193 + Silent SNP T T C rs148080484 byFrequency TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:82560193T>C ENST00000313010.3 - 6 1013 c.819A>G c.(817-819)caA>caG p.Q273Q PRCP_ENST00000535099.1_Silent_p.Q168Q|PRCP_ENST00000393399.2_Silent_p.Q294Q NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 273 SKS domain. blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 CTTTCAAATGTTGGATGTCCT 0.453000 21 92 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8739874 8739874 + Missense_Mutation SNP A A G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:8739874A>G ENST00000311434.9 - 7 690 c.451T>C c.(451-453)Tac>Cac p.Y151H PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 151 platelet activation cytosol CTCTCCTGGTAGGGATACAGC 0.517000 6 37 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161160173 161160173 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:161160173G>A ENST00000308192.9 + 16 2014 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 651 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) GCATGTTCAGGAAATAGAAGT 0.498000 23 103 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003126 122003126 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:122003126C>T ENST00000498619.1 + 7 2793 c.2355C>T c.(2353-2355)ttC>ttT p.F785F CASR_ENST00000490131.1_Silent_p.F775F|CASR_ENST00000296154.5_Silent_p.F775F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 775 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCCTGGGCTTCCTGATCGGCT 0.587000 8 38 0 0 1 0 0 INPP5F 22876 broad.mit.edu 37 10 121551084 121551084 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:121551084C>T ENST00000361976.2 + 4 537 c.371C>T c.(370-372)cCt>cTt p.P124L INPP5F_ENST00000369083.3_Missense_Mutation_p.P124L|INPP5F_ENST00000369081.1_Missense_Mutation_p.P28L NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 124 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) ATACCATCTCCTGATGACTCA 0.323000 7 84 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39880254 39880254 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:39880254G>A ENST00000260356.5 + 9 1471 c.1306G>A c.(1306-1308)Ggt>Agt p.G436S NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 436 TSP type-1 2. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TAAACAGGATGGTGGCTGGAG 0.507000 13 92 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24487988 24487988 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:24487988C>T ENST00000264463.4 - 12 2658 c.2151G>A c.(2149-2151)agG>agA p.R717R CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 717 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GCTCTTTTAGCCTTTCATTAA 0.458000 HNSCC(23;0.051) 21 98 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126080376 126080376 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:126080376C>T ENST00000368364.3 + 5 639 c.442C>T c.(442-444)Ccg>Tcg p.P148S HEY2_ENST00000368365.1_Missense_Mutation_p.P102S NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 148 Orange. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CTCCTCGGATCCGCTGCGGGT 0.617000 8 64 0 0 1 0 0 HPGDS 27306 broad.mit.edu 37 4 95220697 95220697 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:95220697C>T ENST00000295256.5 - 6 624 c.534G>A c.(532-534)cgG>cgA p.R178R NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 178 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) GGACTTTCTTCCGTAAAGTCA 0.468000 19 54 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171755035 171755035 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:171755035G>A ENST00000361735.3 + 3 1196 c.930G>A c.(928-930)gaG>gaA p.E310E METTL13_ENST00000362019.3_Silent_p.E224E|METTL13_ENST00000458517.1_Silent_p.E309E|METTL13_ENST00000367737.5_Silent_p.E154E NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 310 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 AGGGCCGGGAGACCGAGTGGC 0.572000 12 21 0 0 1 0 0 AREG 374 broad.mit.edu 37 4 75312380 75312380 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:75312380C>T ENST00000395748.3 + 2 403 c.191C>T c.(190-192)tCc>tTc p.S64F AREG_ENST00000502307.1_Missense_Mutation_p.S64F|AREG_ENST00000264487.2_Missense_Mutation_p.S64F NM_001657.2 NP_001648.1 P15514 AREG_HUMAN amphiregulin 64 cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication cell surface|extracellular space|integral to membrane cytokine activity|growth factor activity lung(4) 4 Lung(101;0.196) AGTGAGATTTCCCCTGTGAGT 0.473000 15 105 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768279 88768279 + RNA SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:88768279C>T ENST00000444431.1 + 0 2879 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_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 TGGGCTGGTCCAACCTGTTTA 0.557000 39 252 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564805 46564805 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:46564805G>A ENST00000458649.2 - 7 1180 c.762C>T c.(760-762)atC>atT p.I254I AMBRA1_ENST00000314845.3_Silent_p.I254I|AMBRA1_ENST00000533727.1_Silent_p.I254I|AMBRA1_ENST00000298834.3_Silent_p.I254I|AMBRA1_ENST00000426438.1_Silent_p.I254I|AMBRA1_ENST00000528950.1_Silent_p.I254I|AMBRA1_ENST00000534300.1_Silent_p.I254I Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 254 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CTCCCACCTGGATGCCAGAAG 0.632000 6 32 0 0 1 0 0 ANP32A 8125 broad.mit.edu 37 15 69113056 69113056 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:69113056C>T ENST00000465139.2 - 1 178 c.35G>A c.(34-36)cGg>cAg p.R12Q ANP32A_ENST00000560303.1_Missense_Mutation_p.R12Q|SPESP1_ENST00000560188.1_Intron NM_006305.3 NP_006296.1 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 12 intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding endometrium(1)|large_intestine(1)|lung(2) 4 CGTCCTGTTCCGCAGCTCTAA 0.557000 11 46 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98082469 98082469 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:98082469G>A ENST00000419175.1 + 5 904 c.734G>A c.(733-735)cGa>cAa p.R245Q DNTT_ENST00000371174.2_Missense_Mutation_p.R245Q NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 245 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) AATGATGAACGATATCAATCC 0.284000 11 73 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108487265 108487265 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:108487265G>A ENST00000408999.3 + 20 2882 c.2805G>A c.(2803-2805)aaG>aaA p.K935K RGPD4_ENST00000354986.4_Silent_p.K935K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 935 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ATCAAGAAAAGGAAAGTGAAA 0.408000 56 368 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1628944 1628944 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:1628944G>A ENST00000399685.1 - 1 749 c.672C>T c.(670-672)tcC>tcT p.S224S NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 224 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) AGCTGGACTGGGAGGAGCAGG 0.597000 12 201 0 0 1 0 0 MPZL2 10205 broad.mit.edu 37 11 118133683 118133683 + Nonsense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:118133683C>T ENST00000278937.2 - 2 316 c.188G>A c.(187-189)tGg>tAg p.W63* MPZL2_ENST00000438295.2_Nonsense_Mutation_p.W63*|MPZL2_ENST00000525647.1_5'UTR NM_005797.3 NP_005788.1 O60487 MPZL2_HUMAN myelin protein zero-like 2 63 Ig-like V-type. anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1) 11 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) ACGAAAATTCCAGGTCACTGT 0.468000 23 174 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210334122 210334122 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:210334122C>T ENST00000537238.1 + 9 1680 c.1289C>T c.(1288-1290)tCc>tTc p.S430F SYT14_ENST00000367015.1_Missense_Mutation_p.S430F|SYT14_ENST00000534859.1_Missense_Mutation_p.S494F|SYT14_ENST00000422431.1_Missense_Mutation_p.S532F|SYT14_ENST00000472886.1_Missense_Mutation_p.S468F|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.S487F NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 468 C2 2. integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) CAAGAGATGTCCAAATGCAAG 0.373000 10 68 0 0 1 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 553031 553031 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:553031C>T ENST00000262305.4 + 7 1717 c.1329C>T c.(1327-1329)acC>acT p.T443T RAB11FIP3_ENST00000457159.1_Silent_p.T488T|RAB11FIP3_ENST00000450428.1_Silent_p.T147T NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 443 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) GGGCCCTGACCATGGAGGCCC 0.592000 9 57 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70503813 70503813 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:70503813C>T ENST00000310961.5 + 22 2625 c.2207C>T c.(2206-2208)cCa>cTa p.P736L LRRC7_ENST00000035383.5_Missense_Mutation_p.P731L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P15L Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 731 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CCATCTTTCCCACAGCCTCTT 0.507000 37 250 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 88365929 88365929 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:88365929C>T ENST00000518476.1 + 10 1269 c.1218C>T c.(1216-1218)agC>agT p.S406S NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 406 p.S406S(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 GTGAGATTAGCGTCCTTCTTC 0.323000 12 60 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976383 4976383 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:4976383C>T ENST00000380371.1 - 1 560 c.561G>A c.(559-561)atG>atA p.M187I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGCCAACTTCATGACATCCT 0.423000 18 40 0 0 1 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119938736 119938736 + Nonsense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:119938736G>A ENST00000297350.4 - 4 1192 c.814C>T c.(814-816)Caa>Taa p.Q272* NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 272 Death 2. apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) ATCATACCTTGGATGATCTTC 0.353000 7 87 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175332856 175332856 + Nonsense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:175332856G>A ENST00000367674.1 - 13 3403 c.2695C>T c.(2695-2697)Cga>Tga p.R899* TNR_ENST00000263525.2_Nonsense_Mutation_p.R899* NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 899 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.R899*(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TGGGTGGGTCGATATGATACT 0.448000 35 91 0 0 1 0 0 A1BG 1 broad.mit.edu 37 19 58862778 58862778 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:58862778C>T ENST00000263100.3 - 5 950 c.889G>A c.(889-891)Gtc>Atc p.V297I A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 297 Ig-like V-type 3. extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) ATCAGCTCGACCGGCGCGCTG 0.662000 11 85 0 0 1 0 0 COPZ2 51226 broad.mit.edu 37 17 46110610 46110610 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:46110610G>A ENST00000006101.4 - 5 320 c.321C>T c.(319-321)ttC>ttT p.F107F COPZ2_ENST00000584666.1_5'UTR NM_016429.2 NP_057513.1 Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 109 intracellular protein transport|vesicle-mediated transport cis-Golgi network|COPI vesicle coat lung(3)|upper_aerodigestive_tract(1) 4 CCACGTATAGGAAGAGGTCAA 0.488000 3 21 0 0 1 0 0 LRRC46 90506 broad.mit.edu 37 17 45913839 45913839 + Missense_Mutation SNP G G A rs144936742 byFrequency TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:45913839G>A ENST00000269025.4 + 7 956 c.593G>A c.(592-594)cGa>cAa p.R198Q NM_033413.3 NP_219481.1 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 198 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 TGCTCAGAACGAGGTGACCCT 0.612000 6 33 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59179248 59179248 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:59179248G>A ENST00000380516.2 - 19 2848 c.2761C>T c.(2761-2763)Cgt>Tgt p.R921C SLTM_ENST00000536328.1_Missense_Mutation_p.R490C NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 921 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCGCTGCTACGATTCCCAGGG 0.547000 15 53 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219513367 219513367 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:219513367G>A ENST00000411696.2 - 5 2043 c.1264C>T c.(1264-1266)Cta>Tta p.L422L ZNF142_ENST00000449707.1_Silent_p.L422L P52746 ZN142_HUMAN zinc finger protein 142 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) cccgtatgtagaagcatgtgt 0.448000 OREG0015202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 33 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22586194 22586194 + Missense_Mutation SNP A A G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:22586194A>G ENST00000357774.5 - 2 272 c.151T>C c.(151-153)Ttt>Ctt p.F51L ZNF98_ENST00000601553.1_Missense_Mutation_p.F51L NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TCACCCACAAAGACCAGGTTT 0.368000 7 124 0 0 1 0 0 PTP4A2 8073 broad.mit.edu 37 1 32377409 32377409 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:32377409C>T ENST00000344035.6 - 4 1201 c.208G>A c.(208-210)Gga>Aga p.G70R PTP4A2_ENST00000356536.3_Intron|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000602725.1_Missense_Mutation_p.G70R|PTP4A2_ENST00000470404.1_Intron|PTP4A2_ENST00000457805.2_Missense_Mutation_p.G39R NM_080391.3 NP_536316.1 Q12974 TP4A2_HUMAN protein tyrosine phosphatase type IVA, member 2 70 early endosome|plasma membrane prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) GGTGGAGCTCCATCATCAAAT 0.383000 7 76 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101323690 101323690 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:101323690C>T ENST00000344327.3 - 13 3216 c.2792G>A c.(2791-2793)aGa>aAa p.R931K TRPC6_ENST00000348423.4_Missense_Mutation_p.R815K|TRPC6_ENST00000532133.1_Missense_Mutation_p.R853K|TRPC6_ENST00000360497.4_Missense_Mutation_p.R876K NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 931 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTCGCATTATCTATTGGTTTC 0.343000 14 111 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917366 26917366 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:26917366C>T ENST00000539517.2 - 5 1640 c.1323G>A c.(1321-1323)ggG>ggA p.G441G NOVA1_ENST00000465357.2_Silent_p.G417G|NOVA1_ENST00000267422.7_Silent_p.G319G NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 444 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CTAATGTTTTCCCTCCTTTGC 0.433000 6 39 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46812068 46812068 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:46812068C>T ENST00000529230.1 - 14 1762 c.1716G>A c.(1714-1716)aaG>aaA p.K572K CKAP5_ENST00000312055.5_Silent_p.K572K|CKAP5_ENST00000354558.3_Silent_p.K572K|CKAP5_ENST00000415402.1_Silent_p.K572K Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 572 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 CTTTCTTGTTCTTGGTTCCAG 0.448000 18 76 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61832293 61832293 + Silent SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:61832293T>C ENST00000280772.1 - 37 8537 c.8346A>G c.(8344-8346)aaA>aaG p.K2782K ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2782 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCATAAAATCTTTTTGCACAG 0.373000 18 85 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284169 152284169 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:152284169C>T ENST00000368799.1 - 3 3228 c.3193G>A c.(3193-3195)Ggg>Agg p.G1065R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1065 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCACTGGACCCCCAGTGTCCA 0.577000 Ichthyosis 109 774 0 0 1 0 0 TCTN1 79600 broad.mit.edu 37 12 111085661 111085661 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:111085661C>T ENST00000551590.1 + 14 1884 c.1728C>T c.(1726-1728)gcC>gcT p.A576A TCTN1_ENST00000397655.3_Silent_p.A562A|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Silent_p.A581A|TCTN1_ENST00000377654.3_3'UTR Q2MV58 TECT1_HUMAN tectonic family member 1 576 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 CCATCAATGCCAGGCTGCCCT 0.517000 15 65 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322730 79322730 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:79322730C>T ENST00000428286.1 - 8 4583 c.3383G>A c.(3382-3384)cGa>cAa p.R1128Q PRUNE2_ENST00000376718.3_Missense_Mutation_p.R1487Q Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1487 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ATCAAGACTTCGGGGAACTCT 0.438000 6 25 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129951961 129951961 + Splice_Site SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:129951961C>T ENST00000222482.4 + 10 1105 c.1078_splice c.e10+1 p.V359_splice CPA4_ENST00000445470.2_Splice_Site_p.V326_splice|CPA4_ENST00000493259.1_Splice_Site_p.V255_splice NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 359 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) GCACCACTGTCTGTAAGTACT 0.502000 6 44 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93026961 93026961 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:93026961G>A ENST00000523629.1 - 4 768 c.314C>T c.(313-315)tCc>tTc p.S105F RUNX1T1_ENST00000520724.1_Missense_Mutation_p.S68F|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.S68F|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.S78F|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.S68F|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.S78F|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.S68F|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.S105F|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.S116F NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 105 Poly-Ser. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) AGAGGAGGAGGAAGAAGAGGA 0.547000 13 74 0 0 1 0 0 AFP 174 broad.mit.edu 37 4 74309129 74309129 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:74309129G>A ENST00000395792.2 + 6 781 c.681G>A c.(679-681)atG>atA p.M227I AFP_ENST00000226359.2_Missense_Mutation_p.M227I NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 227 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTGCAGTAATGAAAAATTTTG 0.388000 Alpha-Fetoprotein, Hereditary Persistence of 12 61 0 0 1 0 0 C11orf24 53838 broad.mit.edu 37 11 68029170 68029170 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:68029170C>T ENST00000304271.6 - 4 1695 c.1293G>A c.(1291-1293)aaG>aaA p.K431K C11orf24_ENST00000533310.1_Silent_p.K96K NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 431 integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 GGGTGTAGTCCTTCTTCTTGT 0.557000 21 71 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270284 1270284 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:1270284C>T ENST00000348261.5 + 35 6600 c.6352C>T c.(6352-6354)Cat>Tat p.H2118Y CACNA1H_ENST00000565831.1_Missense_Mutation_p.H2112Y|CACNA1H_ENST00000358590.4_Missense_Mutation_p.H2112Y NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2118 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AGCCGAGCCCCATGGCCCCGA 0.736000 3 9 0 0 1 0 0 DHRS11 79154 broad.mit.edu 37 17 34951505 34951505 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:34951505C>T ENST00000251312.5 + 2 464 c.252C>T c.(250-252)atC>atT p.I84I DHRS11_ENST00000394445.1_3'UTR|DHRS11_ENST00000590554.1_Silent_p.I5I NM_024308.3 NP_077284.2 Q6UWP2 DHR11_HUMAN dehydrogenase/reductase (SDR family) member 11 84 extracellular region binding|oxidoreductase activity endometrium(1)|lung(4) 5 TCTCAGCTATCCGTTCTCAGC 0.537000 26 81 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1628945 1628945 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:1628945G>A ENST00000399685.1 - 1 748 c.671C>T c.(670-672)tCc>tTc p.S224F NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 224 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GCTGGACTGGGAGGAGCAGGG 0.597000 14 202 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846494 47846494 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:47846494C>T ENST00000339488.4 - 3 2119 c.2086G>A c.(2086-2088)Gag>Aag p.E696K NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 696 integral to membrane hedgehog receptor activity ACGCCCAGCTCAATTGAGGTG 0.453000 11 30 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 404551 404551 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:404551G>A ENST00000331563.2 + 13 2452 c.2376G>A c.(2374-2376)gaG>gaA p.E792E NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 792 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATCGGAAGGAGGACTTCCTGG 0.632000 6 33 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25420014 25420014 + RNA SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:25420014C>T ENST00000549301.1 + 0 749 SNHG14_ENST00000441592.2_RNA TCCACTGAGCCTTGGTGAGCC 0.532000 49 199 0 0 1 0 0 RSPH3 83861 broad.mit.edu 37 6 159420872 159420872 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:159420872C>T ENST00000252655.1 - 1 326 c.137G>A c.(136-138)gGg>gAg p.G46E RSPH3_ENST00000297262.3_Missense_Mutation_p.G46E|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA NM_031924.4 NP_114130.3 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 46 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) GTTCCGGTCCCCAGGTTTCCC 0.687000 8 48 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532751 84532751 + RNA SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:84532751C>T ENST00000527857.1 + 0 2773 NR_026851.1 TTAAAACTTTCCGTATGAGGA 0.433000 5 30 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125094565 125094565 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr8:125094565C>T ENST00000522917.1 + 33 4463 c.4257C>T c.(4255-4257)tcC>tcT p.S1419S FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.S1419S NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1419 C2 5. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CAAAAGAGTCCCTGCTCTCCA 0.488000 26 152 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51929785 51929785 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:51929785C>T ENST00000371117.3 - 13 1219 c.944G>A c.(943-945)gGa>gAa p.G315E PKHD1_ENST00000340994.4_Missense_Mutation_p.G315E NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 315 IPT/TIG 3. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CACATCTTTTCCTGGAGCCCG 0.463000 16 67 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21721855 21721855 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:21721855G>A ENST00000261195.2 - 5 1021 c.767C>T c.(766-768)aCc>aTc p.T256I NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 256 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 AGAAACCGTGGTGAACACGTG 0.438000 21 121 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576797 158576797 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:158576797G>A ENST00000361284.1 + 1 569 c.569G>A c.(568-570)gGa>gAa p.G190E NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CTAGCCTGTGGAGATACAGGC 0.493000 49 124 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33094022 33094022 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:33094022C>T ENST00000375028.3 + 9 904 c.834C>T c.(832-834)ttC>ttT p.F278F C10orf68_ENST00000375025.4_Silent_p.F338F|C10orf68_ENST00000375030.2_Intron Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 302 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 CAAAGAGTTTCCCTGGTAAGA 0.313000 24 148 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47788571 47788571 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr18:47788571C>T ENST00000398545.4 - 2 205 c.88G>A c.(88-90)Ggc>Agc p.G30S NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 30 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) GCTCCTTGGCCTTTAGGAGGC 0.398000 9 60 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15470728 15470728 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:15470728G>A ENST00000281513.5 - 36 4366 c.4341C>T c.(4339-4341)ccC>ccT p.P1447P NBAS_ENST00000441750.1_Silent_p.P1327P NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1447 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTACCTGAAGGGGTCGAAGGT 0.413000 6 36 0 0 1 0 0 MBL2 4153 broad.mit.edu 37 10 54530441 54530441 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:54530441C>T ENST00000373968.3 - 2 357 c.293G>A c.(292-294)gGa>gAa p.G98E MBL2_ENST00000493043.1_5'UTR NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 98 Collagen-like. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 CGGACTTTTTCCAGGGTCTCC 0.577000 19 117 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47221585 47221585 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:47221585C>T ENST00000319190.5 + 7 1301 c.933C>T c.(931-933)ttC>ttT p.F311F TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000394850.2_Silent_p.F311F|TTC7A_ENST00000409245.1_Silent_p.F277F|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 311 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TGCCTGAGTTCATGGGCAAGG 0.612000 17 79 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6228297 6228297 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:6228297G>A ENST00000262450.3 - 2 219 c.120C>T c.(118-120)ttC>ttT p.F40F CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 40 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCTCCACAGGGAAAAAGTCAT 0.502000 40 214 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196722110 196722110 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:196722110G>A ENST00000312428.6 - 44 8505 c.8405C>T c.(8404-8406)tCa>tTa p.S2802L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2802 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTTATCATATGAATCCATTGC 0.343000 11 81 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71471905 71471905 + Missense_Mutation SNP G G A rs146167261 byFrequency TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:71471905G>A ENST00000322937.6 + 13 905 c.802G>A c.(802-804)Ggg>Agg p.G268R AMBN_ENST00000449493.2_Missense_Mutation_p.G253R NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 268 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel p.G268W(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) TTTCCAGGGCGGGAGAGAAGA 0.488000 17 62 0 0 1 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305744 39305744 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:39305744C>T ENST00000343246.4 - 1 310 c.276G>A c.(274-276)agG>agA p.R92R NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 97 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) agcaggtggtcctgcagcagg 0.662000 5 39 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2638229 2638229 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:2638229G>A ENST00000402050.2 + 17 1755 c.1571G>A c.(1570-1572)aGa>aAa p.R524K IQCE_ENST00000404984.1_Missense_Mutation_p.R473K|IQCE_ENST00000325979.7_Missense_Mutation_p.R459K|IQCE_ENST00000438376.2_Missense_Mutation_p.R508K NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 524 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GCCGCGGCCAGAGTCCTGCAG 0.687000 11 54 0 0 1 0 0 PRPF4 9128 broad.mit.edu 37 9 116041300 116041300 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:116041300G>A ENST00000374199.4 + 3 682 c.281G>A c.(280-282)cGa>cAa p.R94Q PRPF4_ENST00000374198.4_Missense_Mutation_p.R95Q O43172 PRP4_HUMAN pre-mRNA processing factor 4 95 HISERQAEVLAEFERRKRARQINVST -> ISASDRQKYWL SLREGSEPGRSMFPP (in Ref. 3; AAC02261). Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 AGAAGGAAGCGAGCCCGGCAG 0.468000 15 90 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389519 48389519 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:48389519C>T ENST00000224600.4 - 1 1472 c.1359G>A c.(1357-1359)ctG>ctA p.L453L NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 453 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CCAACACACCCAGGACGGAGG 0.617000 6 34 0 0 1 0 0 FASTK 10922 broad.mit.edu 37 7 150776809 150776809 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:150776809G>A ENST00000540185.1 - 2 785 c.181C>T c.(181-183)Cct>Tct p.P61S FASTK_ENST00000482571.1_Missense_Mutation_p.P95S|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000297532.6_Missense_Mutation_p.P95S Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 95 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) AGCTCCCCAGGGCTCTTCGCC 0.677000 3 7 0 0 1 0 0 KIAA1328 57536 broad.mit.edu 37 18 34424175 34424175 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr18:34424175C>T ENST00000591619.1 + 4 1016 c.230C>T c.(229-231)tCc>tTc p.S77F KIAA1328_ENST00000280020.5_Missense_Mutation_p.S81F|KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000592521.1_Missense_Mutation_p.S81F Q86T90 K1328_HUMAN KIAA1328 81 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) TTTAAGAATTCCTGCAGGGGA 0.308000 10 22 0 0 1 0 0 LMAN2 10960 broad.mit.edu 37 5 176764725 176764725 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:176764725G>A ENST00000303127.7 - 4 699 c.495C>T c.(493-495)ccC>ccT p.P165P LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Silent_p.P165P NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 165 Carbohydrate binding (By similarity).|L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCATCATTGGGGTAGGTGT 0.537000 9 22 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546731 11546731 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:11546731G>A ENST00000389362.4 - 3 316 c.281C>T c.(280-282)cCt>cTt p.P94L 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) CTTTCCTGGAGGTGGGGGACC 0.617000 75 461 0 0 1 0 0 CTSH 1512 broad.mit.edu 37 15 79231507 79231507 + Missense_Mutation SNP A A G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:79231507A>G ENST00000220166.5 - 2 207 c.98T>C c.(97-99)tTt>tCt p.F33S NM_004390.3 NP_004381.2 P09668 CATH_HUMAN cathepsin H 33 protein destabilization|proteolysis lysosome cysteine-type endopeptidase activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1) 10 CTTGAAGTGAAACTTCTCTGT 0.368000 6 38 0 0 1 0 0 URGCP 55665 broad.mit.edu 37 7 43918339 43918339 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:43918339G>A ENST00000336086.6 - 4 2830 c.594C>T c.(592-594)tcC>tcT p.S198S URGCP_ENST00000453200.1_Silent_p.S241S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.S198S|URGCP_ENST00000223341.7_Silent_p.S198S|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Silent_p.S232S|URGCP_ENST00000443736.1_Silent_p.S198S Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 241 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TTGGGGGCTGGGACCACCATG 0.612000 4 31 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36485665 36485665 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:36485665C>T ENST00000342292.4 - 11 3807 c.3787G>A c.(3787-3789)Gaa>Aaa p.E1263K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1263 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGGCAGATTTCGGCCTTGTTG 0.607000 23 58 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23937644 23937644 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:23937644C>T ENST00000402377.3 - 3 348 c.207G>A c.(205-207)agG>agA p.R69R ZNF681_ENST00000395385.3_5'UTR NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CGGCCACCATCCTATGTCTCT 0.408000 18 107 0 0 1 0 0 ATRIP 84126 broad.mit.edu 37 3 48506018 48506018 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:48506018C>T ENST00000412052.1 + 11 2195 c.1733C>T c.(1732-1734)cCc>cTc p.P578L ATRIP_ENST00000346691.4_Intron|ATRIP_ENST00000357105.6_Missense_Mutation_p.P544L|ATRIP_ENST00000320211.3_Missense_Mutation_p.P671L NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 671 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTGCAGAGCCCCTTGCCCCCA 0.602000 Other conserved DNA damage response genes 17 96 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52942551 52942551 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:52942551C>T ENST00000267119.5 - 4 816 c.747G>A c.(745-747)gtG>gtA p.V249V NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 249 Coil 1B.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) CCTGCAGTTCCACCTTATTGG 0.547000 15 94 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762860 130762860 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:130762860G>A ENST00000392429.1 + 2 3671 c.1293G>A c.(1291-1293)atG>atA p.M431I TMEM200A_ENST00000545622.1_Missense_Mutation_p.M431I|TMEM200A_ENST00000296978.3_Missense_Mutation_p.M431I NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 431 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AGGGATATATGAAACTAGAGA 0.453000 17 84 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117664496 117664496 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:117664496G>A ENST00000317775.6 - 24 4381 c.3696C>T c.(3694-3696)ttC>ttT p.F1232F NOS1_ENST00000338101.4_Silent_p.F1266F|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1232 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.F1232F(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ACCCTCTCACGAAACAGGGGA 0.488000 6 33 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5087375 5087375 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:5087375G>A ENST00000399604.4 - 1 317 c.177C>T c.(175-177)ctC>ctT p.L59L ZNF594_ENST00000575779.1_Silent_p.L59L Q96JF6 ZN594_HUMAN zinc finger protein 594 59 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CTTGGGAAGGGAGATGTCTCA 0.428000 13 107 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154625607 154625607 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:154625607G>A ENST00000260010.6 + 1 2956 c.1548G>A c.(1546-1548)aaG>aaA p.K516K NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 516 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) CGTTTTCTAAGGAGCAACTTG 0.408000 14 77 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3261843 3261843 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:3261843G>A ENST00000217939.6 - 2 186 c.32C>T c.(31-33)tCc>tTc p.S11F NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 11 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAGCACCACGGAGAGGGCCCC 0.622000 6 7 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100895494 100895494 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:100895494C>T ENST00000343933.5 - 5 731 c.474G>A c.(472-474)atG>atA p.M158I CORO2A_ENST00000375077.4_Missense_Mutation_p.M158I NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 158 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GGTTCCAGATCATCACCTGCA 0.532000 10 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587850 179587850 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:179587850C>T ENST00000589042.1 - 75 22108 c.21884G>A c.(21883-21885)aGa>aAa p.R7295K TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R6978K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6051K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6978 Ig-like 55. 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) CCCTGCATCTCTTTTTGTGCT 0.383000 6 46 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47046037 47046037 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:47046037C>T ENST00000450053.3 + 38 6430 c.6251C>T c.(6250-6252)aCc>aTc p.T2084I NBEAL2_ENST00000383740.2_Missense_Mutation_p.T363I|NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1900I NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2084 BEACH. binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CAACTCAACACCATTGCGGGG 0.587000 9 47 0 0 1 0 0 LRCH2 57631 broad.mit.edu 37 X 114357726 114357726 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:114357726C>T ENST00000317135.8 - 18 1909 c.1879G>A c.(1879-1881)Ggg>Agg p.G627R LRCH2_ENST00000538422.1_Missense_Mutation_p.G610R NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 627 breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 TCTGCTGCCCCATATTCTTGG 0.418000 6 12 0 0 1 0 0 VAT1 10493 broad.mit.edu 37 17 41168114 41168114 + Missense_Mutation SNP C C A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:41168114C>A ENST00000355653.3 - 6 1241 c.1146G>T c.(1144-1146)aaG>aaT p.K382N VAT1_ENST00000587173.1_Missense_Mutation_p.K314N|VAT1_ENST00000420567.3_Missense_Mutation_p.K248N NM_006373.3 NP_006364.2 Q99536 VAT1_HUMAN vesicle amine transport 1 382 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) CCAGGAGGACCTTGCCCACAT 0.552000 94 337 4.09499e-44 4.19276e-44 1 1 0 OVCH1 341350 broad.mit.edu 37 12 29640714 29640714 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:29640714G>A ENST00000318184.5 - 7 803 c.804C>T c.(802-804)ccC>ccT p.P268P NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 268 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) tgtttcttaCGGGAACTGAAC 0.468000 4 19 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 5605454 5605454 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrY:5605454G>A ENST00000215473.6 + 6 3494 c.3494G>A c.(3493-3495)tGc>tAc p.C1165Y Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 1165 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TCTGCTCTATGCCACAGCCCA 0.552000 6 48 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77708877 77708877 + Silent SNP G G A rs143305291 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:77708877G>A ENST00000328313.5 + 3 656 c.435G>A c.(433-435)ggG>ggA p.G145G NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 145 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) ACCCGGGCGGGAACGTCACCT 0.597000 6 37 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29497997 29497997 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:29497997G>A ENST00000389048.3 - 11 2915 c.2009C>T c.(2008-2010)tCa>tTa p.S670L ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 670 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CTGTCTTGGTGAATTTTCCCC 0.468000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 7 75 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55638953 55638953 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:55638953C>T ENST00000370830.3 - 4 1619 c.921G>A c.(919-921)gcG>gcA p.A307A BMP5_ENST00000446683.2_Silent_p.A307A NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 307 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GTACCTCACTCGCCTTGAAGA 0.468000 26 113 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48628143 48628143 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:48628143C>T ENST00000006658.6 + 11 1368 c.1248C>T c.(1246-1248)taC>taT p.Y416Y SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.Y356Y|SPATA20_ENST00000356488.4_Silent_p.Y400Y NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 400 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) AGGGCGCCTACTATGTGTGGA 0.642000 OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 112 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55652968 55652968 + Missense_Mutation SNP T T C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:55652968T>C ENST00000449290.2 + 2 156 c.64T>C c.(64-66)Ttc>Ctc p.F22L NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 22 intracellular zinc ion binding CATGAACTACTTCCTAGACCC 0.498000 17 95 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343343 248343343 + Missense_Mutation SNP A A C rs141475463 byFrequency TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:248343343A>C ENST00000359682.2 + 1 56 c.56A>C c.(55-57)aAt>aCt p.N19T NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGAATCTTCAATCACAGCCCA 0.453000 37 366 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449164 104449164 + Missense_Mutation SNP C C T rs145326290 by1000genomes TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:104449164C>T ENST00000361820.3 - 2 1618 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 340 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTTGTAATTTCGAAAATCCGC 0.517000 7 38 0 0 1 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47123298 47123298 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:47123298G>A ENST00000290341.3 + 13 1776 c.1442G>A c.(1441-1443)gGt>gAt p.G481D IGF2BP1_ENST00000431824.2_Missense_Mutation_p.G342D NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 481 Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AACTTCTTTGGTCCCAAGGAG 0.498000 19 36 0 0 1 0 0 SARM1 23098 broad.mit.edu 37 17 26711525 26711525 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:26711525G>A ENST00000457710.3 + 3 1608 c.1137G>A c.(1135-1137)aaG>aaA p.K379K SARM1_ENST00000379061.4_3'UTR NM_015077.2 NP_055892.2 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 413 innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CCAGCTGGAAGGAGGCCGAGG 0.657000 4 20 0 0 1 0 0 TRAIP 10293 broad.mit.edu 37 3 49881982 49881982 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:49881982G>A ENST00000331456.2 - 4 385 c.272C>T c.(271-273)tCc>tTc p.S91F TRAIP_ENST00000469027.1_Intron|TRAIP_ENST00000473863.1_5'UTR NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 91 cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding p.S91F(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACCTTTCTGGGAAAGCTGGGC 0.532000 5 29 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45947241 45947241 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr21:45947241G>A ENST00000323084.4 - 7 1148 c.1083C>T c.(1081-1083)ttC>ttT p.F361F TSPEAR_ENST00000397916.1_Silent_p.F293F NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 361 cell adhesion extracellular region structural molecule activity p.F361F(2) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 GATATGAGACGAACTTCTCTT 0.552000 15 113 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42819408 42819408 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:42819408G>A ENST00000598766.1 + 7 646 c.646G>A c.(646-648)Gga>Aga p.G216R TMEM145_ENST00000301204.3_Missense_Mutation_p.G192R Q8NBT3 TM145_HUMAN transmembrane protein 145 192 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) ttGTTACTTTGGATGTGAGTC 0.537000 16 87 0 0 1 0 0 CERCAM 51148 broad.mit.edu 37 9 131191038 131191038 + Missense_Mutation SNP G G T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:131191038G>T ENST00000372842.1 + 8 3799 c.655G>T c.(655-657)Gac>Tac p.D219Y CERCAM_ENST00000372838.4_Missense_Mutation_p.D297Y Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 297 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 CTTTGCAGTGGACGGCCCCCG 0.617000 5 42 3.59834e-05 3.64332e-05 1 1 0 UGT2B10 7365 broad.mit.edu 37 4 69682406 69682406 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:69682406C>T ENST00000265403.7 + 1 696 c.669C>T c.(667-669)ttC>ttT p.F223F UGT2B10_ENST00000458688.2_Intron NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 223 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 ACTTTTGGTTCCAAATATTTA 0.303000 13 68 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39768609 39768609 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:39768609C>T ENST00000301653.4 - 1 396 c.332G>A c.(331-333)gGg>gAg p.G111E NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 111 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) CACCAGAAGCccatcaccacc 0.607000 14 97 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66946334 66946334 + Splice_Site SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:66946334C>T ENST00000299752.4 - 12 1553 c.e12-1 CDH16_ENST00000394055.3_Splice_Site|CDH16_ENST00000570262.1_Splice_Site|CDH16_ENST00000565796.1_Splice_Site|CDH16_ENST00000568632.1_Splice_Site NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TAGGCCCAATCTGGAGGAGGA 0.617000 14 50 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196398831 196398831 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:196398831G>A ENST00000367433.5 - 9 796 c.695C>T c.(694-696)tCc>tTc p.S232F KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.S232F|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.S232F Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 232 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.S232F(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GAAATAAAGGGAGTCAAAGAG 0.388000 15 56 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128298072 128298072 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:128298072G>A ENST00000368227.3 - 27 4256 c.3890C>T c.(3889-3891)tCc>tTc p.S1297F PTPRK_ENST00000532331.1_Missense_Mutation_p.S1302F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S1280F|PTPRK_ENST00000368215.3_Missense_Mutation_p.S1279F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S1298F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S1312F|PTPRK_ENST00000368213.5_Missense_Mutation_p.S1286F Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1279 Tyrosine-protein phosphatase 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATTAACCTGGGACAAGTCGAC 0.358000 15 74 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900853 51900853 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:51900853C>T ENST00000268919.4 + 1 615 c.459C>T c.(457-459)atC>atT p.I153I NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 153 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TCTGGGAAATCCAGAAACTGC 0.557000 23 89 0 0 1 0 0 CLDN18 51208 broad.mit.edu 37 3 137717798 137717798 + Missense_Mutation SNP T T G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:137717798T>G ENST00000343735.4 + 1 222 c.88T>G c.(88-90)Tgg>Ggg p.W30G NM_001002026.2 NP_001002026.1 P56856 CLD18_HUMAN claudin 18 30 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 CATGGACCAGTGGAGCACCCA 0.582000 16 75 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129712776 129712776 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:129712776G>A ENST00000421865.2 + 36 5261 c.5212G>A c.(5212-5214)Gaa>Aaa p.E1738K NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1738 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.E1738K(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GACACAAAAGGAAATTGCTGA 0.343000 17 98 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45949808 45949808 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr21:45949808C>T ENST00000323084.4 - 5 728 c.663G>A c.(661-663)ccG>ccA p.P221P TSPEAR_ENST00000397916.1_Silent_p.P153P NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 221 TSP N-terminal. cell adhesion extracellular region structural molecule activity p.P221P(1) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CGTCTGAGCCCGGCAGCAGGA 0.682000 6 22 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82879512 82879512 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:82879512C>T ENST00000298281.4 + 8 2587 c.2135C>T c.(2134-2136)cCa>cTa p.P712L NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 712 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GATCGTTTTCCACTTAAGCGA 0.363000 14 53 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 306646 306646 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:306646G>A ENST00000428720.1 - 10 1715 c.972C>T c.(970-972)ttC>ttT p.F324F SLC6A12_ENST00000536824.1_Silent_p.F324F|SLC6A12_ENST00000359674.4_Silent_p.F324F|SLC6A12_ENST00000424061.2_Silent_p.F324F|SLC6A12_ENST00000397296.2_Silent_p.F324F NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 324 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) CACTGTTCAGGAAGCAGAGGG 0.572000 6 25 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117568357 117568357 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:117568357C>T ENST00000256652.4 + 8 2713 c.2655C>T c.(2653-2655)taC>taT p.Y885Y CD101_ENST00000369470.1_Silent_p.Y885Y|RP11-27K13.3_ENST00000445523.1_RNA NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 885 Ig-like C2-type 7. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGCACTGTTACCGTTCATCCT 0.522000 17 83 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160920382 160920382 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:160920382G>A ENST00000368029.3 - 5 618 c.561C>T c.(559-561)ttC>ttT p.F187F ITLN2_ENST00000494442.1_5'UTR NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 187 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GTCTCTGGAGGAAGCCAGTGT 0.567000 15 124 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210856645 210856645 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:210856645C>T ENST00000367007.4 - 11 3036 c.2867G>A c.(2866-2868)aGa>aAa p.R956K KCNH1_ENST00000271751.4_Missense_Mutation_p.R983K NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 983 CAD (involved in subunit assembly) (By similarity). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AAAAATGTCTCTCTCTGATTC 0.468000 30 202 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762363 24762363 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:24762363C>T ENST00000376451.2 + 2 467 c.207C>T c.(205-207)atC>atT p.I69I KIAA1217_ENST00000376452.3_Silent_p.I351I|KIAA1217_ENST00000458595.1_Silent_p.I351I|KIAA1217_ENST00000307544.6_Silent_p.I69I|KIAA1217_ENST00000396446.1_Silent_p.I69I|KIAA1217_ENST00000396445.1_Silent_p.I69I|KIAA1217_ENST00000376462.1_Silent_p.I271I|KIAA1217_ENST00000376454.3_Silent_p.I351I|KIAA1217_ENST00000430453.2_Silent_p.I272I Q5T5P2 SKT_HUMAN KIAA1217 351 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGGACAGAATCTCCAGCCTGC 0.552000 20 87 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17349574 17349574 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:17349574C>T ENST00000242057.4 + 2 723 c.80C>T c.(79-81)cCa>cTa p.P27L NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 27 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) AAGCCAATCCCAGCTGAAGGA 0.363000 8 45 0 0 1 0 0 STOML3 161003 broad.mit.edu 37 13 39544347 39544347 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr13:39544347C>T ENST00000379631.4 - 5 835 c.491G>A c.(490-492)cGa>cAa p.R164Q STOML3_ENST00000423210.1_Missense_Mutation_p.R155Q NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 164 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) GATCTCTTCTCGTCCAGCTAA 0.408000 22 82 0 0 1 0 0 S100A12 6283 broad.mit.edu 37 1 153346320 153346320 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:153346320G>A ENST00000368737.3 - 3 379 c.262C>T c.(262-264)Cac>Tac p.H88Y NM_005621.1 NP_005612.1 P80511 S10AC_HUMAN S100 calcium binding protein A12 88 defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process cytosol|extracellular region|insoluble fraction|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding endometrium(1)|kidney(1)|skin(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) TTGTGGGTGTGGTAATGGGCA 0.478000 26 70 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190430274 190430274 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:190430274G>A ENST00000261024.2 - 6 992 c.566C>T c.(565-567)cCc>cTc p.P189L NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 189 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) AACAGCCATGGGGGCTAAGAT 0.483000 16 73 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257964 16257964 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:16257964C>T ENST00000375759.3 + 11 5433 c.5229C>T c.(5227-5229)tcC>tcT p.S1743S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1743 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCTCGTTTTCCCAGGCAGAGA 0.557000 42 213 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5111818 5111818 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:5111818C>T ENST00000381759.4 + 12 1525 c.1318C>T c.(1318-1320)Cgc>Tgc p.R440C KDM4B_ENST00000159111.4_Intron|KDM4B_ENST00000536461.1_Intron O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 0 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 gtctcgactccgcatggcaac 0.547000 5 41 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66944275 66944275 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:66944275G>A ENST00000299752.4 - 15 2248 c.2055C>T c.(2053-2055)atC>atT p.I685I CDH16_ENST00000394055.3_Silent_p.I663I|CDH16_ENST00000570262.1_Silent_p.I605I|CDH16_ENST00000565796.1_Silent_p.I646I|CDH16_ENST00000568632.1_Silent_p.I588I NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 685 Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTCCACTCACGATCAAGCCAT 0.637000 9 63 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124413391 124413391 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:124413391G>A ENST00000306842.2 - 1 184 c.160C>T c.(160-162)Ctg>Ttg p.L54L NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 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;0.0213) GGAGTGTGCAGGTGAGAGTTC 0.483000 19 90 0 0 1 0 0 SCTR 6344 broad.mit.edu 37 2 120236408 120236408 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:120236408G>A ENST00000019103.5 - 3 547 c.280C>T c.(280-282)Cgg>Tgg p.R94W AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 94 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) GTGAGCATCCGGAGGAATCTC 0.622000 9 57 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14559293 14559293 + RNA SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:14559293C>T ENST00000273083.3 - 0 1207 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GGCTTTGGTCCTGGCCAGCAG 0.647000 3 8 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6238657 6238657 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:6238657G>A ENST00000265978.4 - 9 2559 c.2201C>T c.(2200-2202)cCc>cTc p.P734L FAM160A2_ENST00000449352.2_Missense_Mutation_p.P720L|FAM160A2_ENST00000524416.1_Missense_Mutation_p.P720L NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 720 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCTGAGGAAGGGGCCAGGGGG 0.597000 12 73 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44073392 44073392 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:44073392C>T ENST00000272286.2 + 3 354 c.264C>T c.(262-264)atC>atT p.I88I NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 88 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGCTGGGCATCCAGAACCTAA 0.552000 9 51 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058027 9058027 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:9058027G>A ENST00000397910.4 - 3 29622 c.29419C>T c.(29419-29421)Cat>Tat p.H9807Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9809 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 GAGGAAGGATGAATTTTCTCT 0.448000 17 82 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77211094 77211094 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr18:77211094C>T ENST00000253506.5 + 5 2099 c.1730C>T c.(1729-1731)tCc>tTc p.S577F NFATC1_ENST00000397790.2_Missense_Mutation_p.S105F|NFATC1_ENST00000329101.4_Missense_Mutation_p.S564F|NFATC1_ENST00000591814.1_Missense_Mutation_p.S577F|NFATC1_ENST00000586434.1_Missense_Mutation_p.S564F|NFATC1_ENST00000318065.5_Missense_Mutation_p.S564F|NFATC1_ENST00000545796.1_Missense_Mutation_p.S105F|NFATC1_ENST00000587635.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.S577F|NFATC1_ENST00000427363.2_Missense_Mutation_p.S577F|NFATC1_ENST00000592223.1_Missense_Mutation_p.S564F NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 577 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CGCACGCTGTCCCTGCAGGTG 0.622000 22 93 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361149 70361149 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:70361149C>T ENST00000305107.6 - 1 477 c.431G>A c.(430-432)aGa>aAa p.R144K UGT2B4_ENST00000512583.1_Missense_Mutation_p.R144K|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 144 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AACATCAAATCTTGACTCCTG 0.393000 11 43 0 0 1 0 0 THAP2 83591 broad.mit.edu 37 12 72070870 72070870 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:72070870C>T ENST00000308086.2 + 3 2170 c.669C>T c.(667-669)acC>acT p.T223T RP11-293I14.2_ENST00000548802.1_Intron NM_031435.3 NP_113623.1 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated protein 2 223 nucleolus DNA binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 10 TAAAACAGACCAAGAGTACCT 0.343000 10 48 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196671552 196671552 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:196671552G>A ENST00000312428.6 - 54 10188 c.10088C>T c.(10087-10089)cCa>cTa p.P3363L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3363 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTCATGGTGTGGTTCCTAAAA 0.323000 12 40 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67188746 67188746 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:67188746G>A ENST00000269081.4 - 17 2738 c.1829C>T c.(1828-1830)tCt>tTt p.S610F ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 610 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CAGAAACAAAGATGATCCTGC 0.318000 12 123 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10858146 10858146 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:10858146G>A ENST00000254488.2 + 1 262 c.196G>A c.(196-198)Gag>Aag p.E66K SLC6A11_ENST00000454147.1_Missense_Mutation_p.E66K NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 66 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CGTGGCCGGGGAGATCATTGG 0.677000 4 26 0 0 1 0 0 KCNE4 23704 broad.mit.edu 37 2 223917937 223917937 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:223917937C>T ENST00000281830.3 + 2 873 c.542C>T c.(541-543)tCc>tTc p.S181F KCNE4_ENST00000604125.1_Missense_Mutation_p.S130F|KCNE4_ENST00000488477.2_Intron Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related family, member 4 130 integral to membrane voltage-gated potassium channel activity large_intestine(2)|lung(5)|ovary(2)|skin(1) 10 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) TCCGAGTCCTCCTCCCCGGAC 0.657000 5 26 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49131969 49131969 + Missense_Mutation SNP C C A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:49131969C>A ENST00000443164.1 + 5 1795 c.1090C>A c.(1090-1092)Ctc>Atc p.L364I SPHK2_ENST00000598088.1_Missense_Mutation_p.L302I|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000245222.4_Missense_Mutation_p.L302I|SPHK2_ENST00000600537.1_Missense_Mutation_p.L243I|SPHK2_ENST00000599029.1_Missense_Mutation_p.L266I|SPHK2_ENST00000599748.1_Missense_Mutation_p.L266I Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 302 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CGACCTGTTGCTCAACTGCTC 0.607000 5 66 0.00198382 0.00200305 1 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77331198 77331198 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:77331198G>A ENST00000282849.5 - 18 3207 c.2789C>T c.(2788-2790)tCc>tTc p.S930F NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 930 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 AGCCGGGCAGGAGAAAGCGTT 0.403000 18 123 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53643934 53643934 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:53643934G>A ENST00000342160.3 - 20 2411 c.1954C>T c.(1954-1956)Ctt>Ttt p.L652F HUWE1_ENST00000262854.6_Missense_Mutation_p.L652F|HUWE1_ENST00000218328.8_Missense_Mutation_p.L652F Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 652 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 AACTTACCAAGGGGATCAGAA 0.403000 7 16 0 0 1 0 0 CLDN18 51208 broad.mit.edu 37 3 137717797 137717797 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:137717797G>A ENST00000343735.4 + 1 221 c.87G>A c.(85-87)caG>caA p.Q29Q NM_001002026.2 NP_001002026.1 P56856 CLD18_HUMAN claudin 18 29 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 GCATGGACCAGTGGAGCACCC 0.582000 16 76 0 0 1 0 0 GPR107 57720 broad.mit.edu 37 9 132837948 132837948 + Missense_Mutation SNP T T A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr9:132837948T>A ENST00000372406.1 + 2 682 c.175T>A c.(175-177)Ttt>Att p.F59I GPR107_ENST00000372410.3_Missense_Mutation_p.F59I|GPR107_ENST00000347136.6_Missense_Mutation_p.F59I NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 59 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) TCTGAACACCTTTGGCTTCTT 0.388000 5 43 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72358718 72358718 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:72358718C>T ENST00000441259.1 - 3 919 c.759G>A c.(757-759)gaG>gaA p.E253E PRF1_ENST00000373209.2_Silent_p.E253E NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 253 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 AGTCCTCCACCTCGTTGTCCG 0.632000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 7 44 0 0 1 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185407273 185407273 + Missense_Mutation SNP G G A rs11558676 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:185407273G>A ENST00000382199.2 - 6 642 c.547C>T c.(547-549)Cct>Tct p.P183S IGF2BP2_ENST00000421047.2_Missense_Mutation_p.P126S|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.P183S|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.P189S NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 183 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GTGCCCCCAGGGGCGTGGCCT 0.612000 15 94 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184698 72184698 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:72184698G>A ENST00000537465.1 - 5 603 c.445C>T c.(445-447)Cac>Tac p.H149Y PMFBP1_ENST00000237353.10_Missense_Mutation_p.H149Y|PMFBP1_ENST00000355636.6_Missense_Mutation_p.H4Y Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 149 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTCTCGTTGTGATTTCCCATT 0.502000 13 85 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754313 140754313 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:140754313C>T ENST00000517434.1 + 1 663 c.663C>T c.(661-663)gtC>gtT p.V221V PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGACCCTGTCCGCTCAAGCG 0.557000 3 12 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874582 36874582 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:36874582C>T ENST00000429976.2 - 21 6607 c.6360G>A c.(6358-6360)gtG>gtA p.V2120V TRANK1_ENST00000301807.6_Silent_p.V1570V|TRANK1_ENST00000428977.2_Silent_p.V1570V O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2120 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGGCTAATTTCACTTGGTCAG 0.413000 4 21 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50948764 50948764 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:50948764C>T ENST00000374103.4 - 16 2217 c.2132G>A c.(2131-2133)gGa>gAa p.G711E OGDHL_ENST00000419399.1_Missense_Mutation_p.G654E|OGDHL_ENST00000432695.1_Missense_Mutation_p.G502E NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 711 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 ACCCAGGACTCCGTACTCCGA 0.657000 7 24 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2924840 2924840 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:2924840G>A ENST00000397461.1 + 8 1048 c.664G>A c.(664-666)Gaa>Aaa p.E222K CNTN4_ENST00000418658.1_Missense_Mutation_p.E222K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E3K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E222K NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 222 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 p.E222*(1) 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) AGTGATGGGTGAATATGAGCC 0.373000 4 25 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66920910 66920910 + Missense_Mutation SNP A A C TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:66920910A>C ENST00000269080.2 - 10 1511 c.1374T>G c.(1372-1374)gaT>gaG p.D458E ABCA8_ENST00000430352.2_Missense_Mutation_p.D458E|ABCA8_ENST00000586539.1_Missense_Mutation_p.D458E NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 458 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AAGGATCGGCATCCATTTCAT 0.448000 22 134 0 0 1 0 0 TMEM89 440955 broad.mit.edu 37 3 48658291 48658291 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:48658291G>A ENST00000330862.3 - 2 562 c.464C>T c.(463-465)tCc>tTc p.S155F NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 155 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ACTCTGGGTGGAAGTCCCCTT 0.602000 18 108 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49670958 49670958 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr16:49670958G>A ENST00000561648.1 - 4 2158 c.2105C>T c.(2104-2106)tCc>tTc p.S702F ZNF423_ENST00000567169.1_Missense_Mutation_p.S585F|ZNF423_ENST00000262383.2_Missense_Mutation_p.S702F|ZNF423_ENST00000535559.1_Missense_Mutation_p.S585F|ZNF423_ENST00000563137.2_Missense_Mutation_p.S642F|ZNF423_ENST00000562520.1_Missense_Mutation_p.S642F|ZNF423_ENST00000562871.1_Missense_Mutation_p.S642F NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 702 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) ATCCACCGAGGAAAATTGCTT 0.552000 8 58 0 0 1 0 0 LYPLA2 11313 broad.mit.edu 37 1 24120591 24120591 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:24120591C>T ENST00000374514.3 + 7 641 c.334C>T c.(334-336)Cct>Tct p.P112S LYPLA2_ENST00000374503.3_Missense_Mutation_p.P112S|LYPLA2_ENST00000374502.3_Missense_Mutation_p.P112S|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374505.2_Intron|LYPLA2_ENST00000374501.1_Missense_Mutation_p.P45S|LYPLA2_ENST00000400061.1_Intron NM_007260.2 NP_009191.1 O95372 LYPA2_HUMAN lysophospholipase II 112 fatty acid metabolic process cytoplasm hydrolase activity endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) GAACGGGATCCCTGCCAATCG 0.607000 13 88 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999696 45999696 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr21:45999696G>A ENST00000400372.1 - 1 785 c.760C>T c.(760-762)Ccg>Tcg p.P254S TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 254 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 CAGGAGGCCGGGCGGCAGCAG 0.706000 10 62 0 0 1 0 0 CXorf57 55086 broad.mit.edu 37 X 105905473 105905473 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chrX:105905473C>T ENST00000372548.4 + 12 2316 c.2207C>T c.(2206-2208)cCc>cTc p.P736L CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Missense_Mutation_p.P639L NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 736 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 GAAGGAAGGCCCCCAAAACTT 0.383000 29 49 0 0 1 0 0 ICAM3 3385 broad.mit.edu 37 19 10449604 10449604 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:10449604G>A ENST00000160262.5 - 2 305 c.97C>T c.(97-99)Ctt>Ttt p.L33F ICAM3_ENST00000589261.1_5'UTR NM_002162.3 NP_002153.2 P32942 ICAM3_HUMAN intercellular adhesion molecule 3 33 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) ACCCGCAAAAGGAACTCCTGC 0.547000 15 48 0 0 1 0 0 S1PR2 9294 broad.mit.edu 37 19 10335081 10335081 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:10335081G>A ENST00000590320.1 - 2 611 c.501C>T c.(499-501)atC>atT p.I167I NM_004230.3 NP_004221.3 O95136 S1PR2_HUMAN sphingosine-1-phosphate receptor 2 167 activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 TCCAGCCAAGGATGGGCAGGC 0.607000 13 55 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059444 248059444 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:248059444C>T ENST00000537741.1 + 3 813 c.556C>T c.(556-558)Cgg>Tgg p.R186W OR2W3_ENST00000360358.3_Missense_Mutation_p.R186W Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CGCCCTGATCCGGATGGCCTG 0.622000 17 102 0 0 1 0 0 ZNF329 79673 broad.mit.edu 37 19 58639442 58639442 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:58639442G>A ENST00000598312.1 - 4 1662 c.1429C>T c.(1429-1431)Cac>Tac p.H477Y ZNF329_ENST00000358067.4_Missense_Mutation_p.H477Y NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TCCTTAGTGTGAATTCTCTGG 0.517000 24 83 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142749631 142749631 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:142749631C>T ENST00000418316.1 + 1 215 c.194C>T c.(193-195)tCc>tTc p.S65F NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) GGCAATTTTTCCCTGCTGGAG 0.493000 30 176 0 0 1 0 0 HEATR4 399671 broad.mit.edu 37 14 73964968 73964968 + Missense_Mutation SNP C C G rs140104691 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:73964968C>G ENST00000553558.1 - 14 2758 c.2437G>C c.(2437-2439)Gta>Cta p.V813L HEATR4_ENST00000334988.2_Missense_Mutation_p.V813L|HEATR4_ENST00000560393.1_Missense_Mutation_p.V766L NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TCCAGCCGTACACCTGGTGAC 0.562000 9 27 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26688384 26688384 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:26688384G>A ENST00000436292.1 - 7 1453 c.1333C>T c.(1333-1335)Cat>Tat p.H445Y ZNF683_ENST00000403843.1_Missense_Mutation_p.H445Y|ZNF683_ENST00000374204.1_Missense_Mutation_p.H425Y|ZNF683_ENST00000349618.3_Missense_Mutation_p.H425Y Q8IZ20 ZN683_HUMAN zinc finger protein 683 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) TGCAGCCGATGGTGCAGCTTC 0.662000 10 59 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116975511 116975511 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr10:116975511G>A ENST00000355044.3 + 9 1531 c.1405G>A c.(1405-1407)Ggc>Agc p.G469S NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 469 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AGGTGGATATGGCCATACTAG 0.333000 4 41 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113085146 113085146 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:113085146G>A ENST00000316851.7 + 7 942 c.942G>A c.(940-942)caG>caA p.Q314Q NCAM1_ENST00000533760.1_Silent_p.Q206Q|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.Q323Q NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 324 Ig-like C2-type 4. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TAGAGGAGCAGGTCACTCTTA 0.458000 5 25 0 0 1 0 0 UPP2 151531 broad.mit.edu 37 2 158962718 158962718 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:158962718G>A ENST00000605860.1 + 5 387 c.341G>A c.(340-342)gGa>gAa p.G114E UPP2_ENST00000005756.4_Missense_Mutation_p.G57E|UPP2_ENST00000409859.4_Missense_Mutation_p.G114E|UPP2_ENST00000460456.1_3'UTR O95045 UPP2_HUMAN uridine phosphorylase 2 57 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 GCAATGTTTGGAGATGTAAAG 0.323000 10 36 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103301844 103301844 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr7:103301844G>A ENST00000428762.1 - 12 1579 c.1420C>T c.(1420-1422)Ctg>Ttg p.L474L RELN_ENST00000343529.5_Silent_p.L474L|RELN_ENST00000424685.2_Silent_p.L474L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 474 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) TAAAACCTCAGGTTCCCATAA 0.433000 15 58 0 0 1 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050303 110050303 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:110050303C>T ENST00000369864.4 - 2 1581 c.1232G>A c.(1231-1233)gGa>gAa p.G411E AMIGO1_ENST00000369862.1_Missense_Mutation_p.G411E Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 411 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) GAGGCTGTCTCCTTGATGGCT 0.557000 14 67 0 0 1 0 0 CCDC92 80212 broad.mit.edu 37 12 124421867 124421867 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:124421867G>A ENST00000545135.1 - 3 3979 c.683C>T c.(682-684)cCa>cTa p.P228L CCDC92_ENST00000238156.3_Missense_Mutation_p.P245L|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.P228L Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 245 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) CAGCAGAAATGGGGTGGGGTC 0.622000 14 50 0 0 1 0 0 SMR3B 10879 broad.mit.edu 37 4 71255498 71255498 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr4:71255498G>A ENST00000304915.3 + 3 322 c.173G>A c.(172-174)aGa>aAa p.R58K SMR3B_ENST00000504825.1_Missense_Mutation_p.R58K NM_006685.3 NP_006676.1 submaxillary gland androgen regulated protein 3B p.R58K(1) large_intestine(2)|lung(3)|skin(2) 7 all_hematologic(202;0.196) GGTCCAGGGAGAATCCCACCT 0.602000 30 120 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41092699 41092699 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:41092699C>T ENST00000291842.5 + 13 1234 c.1185C>T c.(1183-1185)atC>atT p.I395I SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Silent_p.I370I NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 395 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGAACTGGATCGAGATCGCCT 0.622000 14 73 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 50149724 50149724 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:50149724C>T ENST00000451037.2 - 2 1031 c.91G>A c.(91-93)Ggc>Agc p.G31S CA10_ENST00000570565.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.G37S|CA10_ENST00000285273.4_Missense_Mutation_p.G31S|CA10_ENST00000442502.2_Missense_Mutation_p.G31S NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 31 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GCCCACCAGCCTTCATGGATT 0.398000 22 82 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247921574 247921574 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:247921574G>A ENST00000408896.2 - 1 408 c.135C>T c.(133-135)atC>atT p.I45I NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCGTCGCAATGATGAGCATGT 0.493000 11 32 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121748012 121748012 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr2:121748012C>T ENST00000452319.1 + 14 4582 c.4522C>T c.(4522-4524)Ccc>Tcc p.P1508S GLI2_ENST00000361492.4_Missense_Mutation_p.P1508S|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1508 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCTGGAGGCCCCCCAGATTGA 0.617000 22 116 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47614411 47614411 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr21:47614411G>A ENST00000397728.3 - 20 2060 c.1982C>T c.(1981-1983)gCc>gTc p.A661V LSS_ENST00000356396.4_Missense_Mutation_p.A661V|LSS_ENST00000457828.2_Missense_Mutation_p.A581V|LSS_ENST00000522411.1_Missense_Mutation_p.A650V NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 661 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CCACCGAACGGCCATCAGCCC 0.617000 8 23 0 0 1 0 0 CRELD1 78987 broad.mit.edu 37 3 9979724 9979724 + Nonsense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr3:9979724C>T ENST00000383811.3 + 4 993 c.394C>T c.(394-396)Cag>Tag p.Q132* CRELD1_ENST00000397170.3_Nonsense_Mutation_p.Q132*|CRELD1_ENST00000452070.1_Nonsense_Mutation_p.Q132*|CRELD1_ENST00000326434.5_Nonsense_Mutation_p.Q132* NM_015513.4 NP_056328.2 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 132 cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 GGACCTCTTCCAGTGGCTGTG 0.622000 9 25 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687671 158687671 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:158687671G>A ENST00000368146.1 - 1 282 c.283C>T c.(283-285)Ccc>Tcc p.P95S OR6K3_ENST00000368145.1_Missense_Mutation_p.P79S Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 95 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) AGCATCTTGGGAATGGTGGCT 0.453000 70 203 0 0 1 0 0 PITPNB 23760 broad.mit.edu 37 22 28256204 28256204 + Missense_Mutation SNP C C A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr22:28256204C>A ENST00000335272.5 - 9 636 c.560G>T c.(559-561)tGt>tTt p.C187F PITPNB_ENST00000320996.10_Missense_Mutation_p.C187F|PITPNB_ENST00000455418.3_Missense_Mutation_p.C189F NM_012399.3 NP_036531.1 P48739 PIPNB_HUMAN phosphatidylinositol transfer protein, beta 187 lipid metabolic process|transport Golgi apparatus lipid binding large_intestine(4)|lung(3)|skin(1) 8 CATCTGGGGACAGTCAGGGCT 0.363000 6 29 0.248553 0.248553 1 1 0 LTA4H 4048 broad.mit.edu 37 12 96397680 96397680 + Missense_Mutation SNP G G T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:96397680G>T ENST00000228740.2 - 17 1690 c.1549C>A c.(1549-1551)Cac>Aac p.H517N RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000552789.1_Missense_Mutation_p.H493N|LTA4H_ENST00000413268.2_Intron NM_000895.2 NP_000886.1 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 517 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12 CGCTTTATGTGCCCCAATGGA 0.398000 4 44 0.0381472 0.0382522 1 1 0 RASIP1 54922 broad.mit.edu 37 19 49224197 49224197 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr19:49224197G>A ENST00000222145.4 - 12 2954 c.2750C>T c.(2749-2751)tCg>tTg p.S917L NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 917 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GCGCAGGCGCGAGCTCCCCAG 0.652000 8 26 0 0 1 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24520729 24520729 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr6:24520729C>T ENST00000357578.3 + 6 1116 c.971C>T c.(970-972)gCt>gTt p.A324V ALDH5A1_ENST00000348925.2_Missense_Mutation_p.A337V|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.A296V|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.A236V NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 324 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) GTGGACCAGGCTGTAGCAGGG 0.507000 17 81 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70527622 70527622 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr14:70527622C>T ENST00000381269.2 - 3 2572 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E607K|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E607K NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 607 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CTTTCGTATTCCTCCTCATCT 0.428000 17 68 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103814205 103814205 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:103814205C>T ENST00000302251.5 - 5 1180 c.729G>A c.(727-729)agG>agA p.R243R PDGFD_ENST00000393158.2_Silent_p.R249R NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 249 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) CATGGTATGACCTGCCTCGAT 0.418000 5 36 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57349354 57349354 + Splice_Site SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:57349354G>A ENST00000361249.3 + 6 951 c.855_splice c.e6+1 p.K285_splice NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 285 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 ATAATGAGAAGGTATTCAAAC 0.383000 16 46 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66359606 66359606 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:66359606G>A ENST00000333861.3 - 1 948 c.881C>T c.(880-882)aCc>aTc p.T294I NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 294 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 AGCCCTGCTGGTGGGGGCCAC 0.597000 11 74 0 0 1 0 0 BOLA1 51027 broad.mit.edu 37 1 149871861 149871863 + In_Frame_Del DEL ACA ACA - TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:149871861_149871863delACA ENST00000369153.2 + 3 913_915 c.249_251delACA c.(247-252)cta>ct p.LQ83del BOLA1_ENST00000369152.5_In_Frame_Del_p.LQ83del|BOLA1_ENST00000369150.1_In_Frame_Del_p.LQ83del|BOLA1_ENST00000476344.1_3'UTR Q9Y3E2 BOLA1_HUMAN bolA family member 1 83 extracellular region protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TGAGCCCCCTACAACGACACCGG 0.680 9 40 --- --- --- --- SDCCAG8 10806 broad.mit.edu 37 1 243437890 243437891 + Frame_Shift_Ins INS - - T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr1:243437890_243437891insT ENST00000366541.3 + 4 470_471 c.352_353insT c.(352-354)tgtfs p.C118fs SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Frame_Shift_Ins_p.C118fs|SDCCAG8_ENST00000391846.1_Frame_Shift_Ins_p.C118fs NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 118 establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TATGCACGACCTTGTTCATACT 0.277 34 97 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150922632 150922633 + Frame_Shift_Ins INS - - T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr5:150922632_150922633insT ENST00000261800.5 - 9 8067_8068 c.8055_8056insA c.(8053-8058)aatatcfs p.NI2685fs NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2685 Cadherin 23. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTAAGGATACTTTTTTAGGAA 0.460 14 55 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321928 66321928 + RNA DEL A A - rs141435934 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr11:66321928delA ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 accctgtctcaaaaaaaaaaa 0.537 2 4 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132445250 132445251 + Frame_Shift_Ins INS - - G TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr12:132445250_132445251insG ENST00000333577.4 + 2 195_196 c.86_87insG c.(85-87)cgcfs p.R29fs EP400_ENST00000389562.2_Frame_Shift_Ins_p.R29fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.R29fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.R29fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.R29fs Q96L91 EP400_HUMAN E1A binding protein p400 29 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GAGGAGCAGCCGGCCCACCCCA 0.653 2 4 --- --- --- --- LOC101926911 101926911 broad.mit.edu 37 15 91575679 91575681 + RNA DEL CCT CCT - TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr15:91575679_91575681delCCT ENST00000557804.1 + 0 387_389 GGCTGAGGCGCCTCCTCCTCCTC 0.635 4 9 --- --- --- --- C17orf104 284071 broad.mit.edu 37 17 42746811 42746811 + Frame_Shift_Del DEL C C - TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr17:42746811delC ENST00000409122.2 + 6 2525 c.2383delC c.(2383-2385)cafs p.P795fs C17orf104_ENST00000359945.3_Frame_Shift_Del_p.P795fs|C17orf104_ENST00000409464.1_Frame_Shift_Del_p.P629fs NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 795 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 TAACAACACTCCAGTTCCAAG 0.363 2 4 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28793489 28793490 + RNA INS - - T rs144948060 TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37cecfce-36fc-4240-adae-75f506475881 3607a6e5-99d1-4bd6-8a37-9380de187000 g.chr21:28793489_28793490insT ENST00000420186.2 - 0 202 atttttttttcttttttttttt 0.347 4 4 --- --- --- ---