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 OR2L2 26246 broad.mit.edu 37 1 248202232 248202232 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 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 30 227 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163051225 163051225 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:163051225C>T ENST00000188790.4 - 17 1643 c.1436G>A c.(1435-1437)gGa>gAa p.G479E FAP_ENST00000443424.1_Missense_Mutation_p.G454E NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 479 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 ATCAGTGCGTCCATCATGAAG 0.448000 27 44 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70546218 70546218 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:70546218C>T ENST00000323786.5 - 5 683 c.662G>A c.(661-663)cGc>cAc p.R221H COG4_ENST00000393612.4_Missense_Mutation_p.R217H|COG4_ENST00000564653.1_Missense_Mutation_p.A179T NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 217 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) CTTGAAGAAGCGCTCCACCTG 0.512000 21 40 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60345065 60345065 + RNA SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:60345065C>T ENST00000581291.1 - 0 902 breast(2)|kidney(1)|lung(2) 5 CCCCATCAATCAATATCCGGA 0.597000 28 22 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30128290 30128290 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:30128290G>A ENST00000484663.1 - 6 1733 c.600C>T c.(598-600)aaC>aaT p.N200N MAPK3_ENST00000403394.1_Silent_p.N314N|MAPK3_ENST00000395199.3_Silent_p.N314N|MAPK3_ENST00000395200.1_Silent_p.N246N|MAPK3_ENST00000395202.1_Silent_p.N270N|MAPK3_ENST00000322266.5_Silent_p.N270N|MAPK3_ENST00000263025.4_Silent_p.N314N P27361 MK03_HUMAN mitogen-activated protein kinase 3 314 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GTTTATTGGGGTTAAAGGTTA 0.582000 60 143 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615543 179615543 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179615543C>T ENST00000360870.5 - 46 11806 c.11584G>A c.(11584-11586)Gag>Aag p.E3862K TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9694 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) TATACTTCCTCCTTCTCACAT 0.373000 45 27 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66070837 66070837 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:66070837C>T ENST00000349533.6 + 11 1705 c.1520C>T c.(1519-1521)tCt>tTt p.S507F LEPR_ENST00000371060.3_Missense_Mutation_p.S507F|LEPR_ENST00000371058.1_Missense_Mutation_p.S507F|LEPR_ENST00000371059.3_Missense_Mutation_p.S507F|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.S507F NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 507 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTCCTATTATCTGGCTACACA 0.413000 25 77 0 0 1 0 0 DIO2 1734 broad.mit.edu 37 14 80669111 80669111 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:80669111G>A ENST00000557010.1 - 4 1128 c.743C>T c.(742-744)tCc>tTc p.S248F DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.S284F|DIO2_ENST00000438257.4_Missense_Mutation_p.S248F|DIO2_ENST00000422005.3_3'UTR NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 248 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) AAGGTTGTAGGAGAAGGGGCC 0.438000 14 24 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100841659 100841659 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:100841659C>T ENST00000369208.3 - 11 2056 c.1274G>A c.(1273-1275)aGg>aAg p.R425K SIM1_ENST00000262901.4_Missense_Mutation_p.R425K P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 425 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGAGCCAGGCCTATCGGCGGG 0.597000 10 51 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47765657 47765657 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:47765657G>A ENST00000360380.3 - 7 984 c.621C>T c.(619-621)atC>atT p.I207I STIL_ENST00000396221.2_Silent_p.I207I|STIL_ENST00000337817.5_Silent_p.I207I|STIL_ENST00000243182.6_Silent_p.I207I|STIL_ENST00000371877.3_Silent_p.I207I Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 207 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GAATAATGGGGATGGGCTTCA 0.388000 18 56 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116061163 116061163 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:116061163G>A ENST00000369271.3 - 13 1792 c.1492C>T c.(1492-1494)Cgc>Tgc p.R498C AFAP1L2_ENST00000304129.4_Missense_Mutation_p.R498C|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.R551C NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 498 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) TCCTCCTGGCGGTCCTGGCTA 0.617000 22 19 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113238118 113238118 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:113238118C>T ENST00000369644.1 + 12 2562 c.1533C>T c.(1531-1533)ctC>ctT p.L511L MOV10_ENST00000413052.2_Silent_p.L567L|MOV10_ENST00000357443.2_Silent_p.L567L|MOV10_ENST00000369645.1_Silent_p.L567L|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 567 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GTCAAAGGCTCCGGGTCCACC 0.592000 11 46 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14312829 14312829 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:14312829C>T ENST00000571589.1 + 8 839 c.667C>T c.(667-669)Cct>Tct p.P223S MKL2_ENST00000574045.1_Missense_Mutation_p.P223S|MKL2_ENST00000318282.5_Missense_Mutation_p.P223S|MKL2_ENST00000341243.5_Missense_Mutation_p.P212S|MKL2_ENST00000573051.1_Missense_Mutation_p.P172S|MKL2_ENST00000572567.1_Missense_Mutation_p.P212S NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 212 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ATCGCCATCTCCTGTGACTAC 0.463000 4 48 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82188651 82188651 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:82188651C>T ENST00000376520.4 + 2 921 c.93C>T c.(91-93)tcC>tcT p.S31S TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Silent_p.S31S|TLE4_ENST00000376552.2_Silent_p.S31S|TLE4_ENST00000265284.6_Silent_p.S31S|TLE4_ENST00000376537.4_Silent_p.S31S O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TTTCCGAATCCTGTGATCGGA 0.413000 12 8 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149583589 149583589 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:149583589C>T ENST00000230671.2 + 10 1691 c.1320C>T c.(1318-1320)atC>atT p.I440I SLC6A7_ENST00000524041.1_Silent_p.I440I NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 440 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TGGGGCTGATCCTCACCACTG 0.597000 9 14 0 0 1 0 0 IFT88 8100 broad.mit.edu 37 13 21265292 21265292 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:21265292G>A ENST00000319980.6 + 28 2807 c.2480G>A c.(2479-2481)gGa>gAa p.G827E IFT88_ENST00000537103.1_Missense_Mutation_p.G799E|IFT88_ENST00000382778.4_3'UTR|IFT88_ENST00000351808.5_Missense_Mutation_p.G818E NM_175605.3 NP_783195.2 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 827 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) GAAGAATTAGGAGATGATTTG 0.363000 21 13 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33372865 33372865 + Nonsense_Mutation SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:33372865C>A ENST00000305768.4 - 18 2108 c.2020G>T c.(2020-2022)Gag>Tag p.E674* NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 674 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TCCTGCTGCTCCAGCAGACGG 0.637000 5 8 0.000602214 0.000604706 1 1 0 OR52N1 79473 broad.mit.edu 37 11 5809341 5809341 + Nonsense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:5809341G>A ENST00000317078.1 - 1 705 c.706C>T c.(706-708)Cga>Tga p.R236* TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GCCTTCTGTCGAGCATCTGCT 0.478000 52 20 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77147264 77147264 + Missense_Mutation SNP C C G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:77147264C>G ENST00000461745.1 + 2 1061 c.161C>G c.(160-162)gCg>gGg p.A54G ROBO2_ENST00000487694.3_Missense_Mutation_p.A70G|ROBO2_ENST00000332191.8_Missense_Mutation_p.A54G NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 54 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AACTGCAAGGCGGAGGGCCGG 0.617000 9 44 0 0 1 0 0 MTMR6 9107 broad.mit.edu 37 13 25832756 25832756 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:25832756C>T ENST00000381801.5 - 7 1562 c.801G>A c.(799-801)caG>caA p.Q267Q MTMR6_ENST00000540661.1_Silent_p.Q267Q NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 267 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TTCCAACAAACTGAAATCTAA 0.318000 13 11 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 64 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51747199 51747199 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:51747199C>T ENST00000395052.3 + 3 1395 c.1161C>T c.(1159-1161)gcC>gcT p.A387A GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.A387A NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 387 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CAGTGTACGCCATGGCCCATG 0.632000 32 31 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058343 11058343 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr21:11058343G>A ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTAAAGGAGAGAAATCTCTTT 0.353000 6 90 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123725050 123725050 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:123725050G>A ENST00000223642.1 - 36 4432 c.4403C>T c.(4402-4404)cCc>cTc p.P1468L NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1468 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ATCACTGGAGGGAATCTGTTT 0.343000 49 92 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120263838 120263838 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:120263838G>A ENST00000369407.3 + 1 1589 c.82G>A c.(82-84)Gat>Aat p.D28N PHGDH_ENST00000369409.4_Missense_Mutation_p.D62N O43175 SERA_HUMAN phosphoglycerate dehydrogenase 62 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) GGTGACCGCTGATGTCATCAA 0.522000 26 104 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284364 223284364 + Silent SNP A A G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:223284364A>G ENST00000540964.1 - 4 2471 c.2010T>C c.(2008-2010)tgT>tgC p.C670C TLR5_ENST00000342210.6_Silent_p.C670C O60602 TLR5_HUMAN toll-like receptor 5 670 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) CTGTCTTATAACAGATAAAAC 0.458000 15 73 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 782347 782347 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:782347C>T ENST00000540986.1 - 7 1979 c.544G>A c.(544-546)Gag>Aag p.E182K NARFL_ENST00000301694.5_3'UTR|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000251588.2_Missense_Mutation_p.E284K|NARFL_ENST00000568545.1_Missense_Mutation_p.E182K Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 284 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) GAGACGCCCTCTTCCTCCAGC 0.537000 73 168 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18747456 18747456 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:18747456C>T ENST00000433979.1 + 29 4033 c.3917C>T c.(3916-3918)tCt>tTt p.S1306F PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1347F|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1306F NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1306 PX. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity p.S1306Y(1) breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TTTTTCCTCTCTGAGGCTGTG 0.289000 11 27 0 0 1 0 0 CCDC25 55246 broad.mit.edu 37 8 27614250 27614250 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:27614250G>A ENST00000356537.4 - 4 247 c.154C>T c.(154-156)Ctt>Ttt p.L52F CCDC25_ENST00000522915.1_Intron|CCDC25_ENST00000539095.1_Intron NM_018246.2 NP_060716.2 Q86WR0 CCD25_HUMAN coiled-coil domain containing 25 52 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) TGTAATCGAAGGTATACATGA 0.363000 16 14 0 0 1 0 0 STARD6 147323 broad.mit.edu 37 18 51855780 51855780 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:51855780G>A ENST00000581310.1 - 8 789 c.416C>T c.(415-417)cCa>cTa p.P139L STARD6_ENST00000580990.2_Intron|STARD6_ENST00000307844.3_Missense_Mutation_p.P139L P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 139 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) ATTTGAAGATGGAGGATATTC 0.318000 86 58 0 0 1 0 0 CHRNA5 1138 broad.mit.edu 37 15 78882151 78882151 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:78882151G>A ENST00000299565.5 + 5 618 c.418G>A c.(418-420)Gat>Aat p.D140N CHRNA5_ENST00000559554.1_Missense_Mutation_p.D140N|RP11-650L12.2_ENST00000567141.1_RNA NM_000745.3 NP_000736.2 P30532 ACHA5_HUMAN cholinergic receptor, nicotinic, alpha 5 (neuronal) 140 behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3) 15 TTTTAGTGCAGATGGACGTTT 0.373000 18 27 0 0 1 0 0 SNRNP40 9410 broad.mit.edu 37 1 31769575 31769575 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:31769575C>T ENST00000263694.4 - 1 42 c.24G>A c.(22-24)aaG>aaA p.K8K SNRNP40_ENST00000446633.2_Silent_p.K8K NM_004814.2 NP_004805.2 Q96DI7 SNR40_HUMAN small nuclear ribonucleoprotein 40kDa (U5) 8 catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 ACTCTGGGCCCTTACGCTTCT 0.652000 40 42 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117303092 117303092 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:117303092G>A ENST00000369478.3 + 3 559 c.451G>A c.(451-453)Gga>Aga p.G151R NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 151 Ig-like C2-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) GGTAATGAATGGAACTGACCC 0.408000 29 42 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96447945 96447945 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:96447945G>A ENST00000285979.6 + 3 594 c.395G>A c.(394-396)cGg>cAg p.R132Q CYP2C18_ENST00000339022.5_Missense_Mutation_p.R132Q|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) ATGACTCTGCGGAATTTTGGG 0.498000 33 24 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4968181 4968181 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:4968181G>A ENST00000380373.2 - 1 175 c.150C>T c.(148-150)atC>atT p.I50I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGTCTTGATGATAAAAAGAA 0.438000 14 36 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 9 26 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19924175 19924175 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:19924175G>A ENST00000295824.9 - 12 2356 c.2195C>T c.(2194-2196)cCc>cTc p.P732L EFHB_ENST00000344838.4_Missense_Mutation_p.P602L NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 732 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 ACGAATTCGGGGAGCAGGAAT 0.418000 19 12 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683757 6683757 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:6683757G>A ENST00000321535.4 + 2 700 c.570G>A c.(568-570)agG>agA p.R190R NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 190 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 GCTACATGAGGAATGAGAATG 0.493000 34 59 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212391 26212391 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:26212391C>T ENST00000379034.1 + 2 577 c.428C>T c.(427-429)tCc>tTc p.S143F NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 143 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CATGATGTCTCCGTTCCTCAG 0.527000 43 33 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134154611 134154611 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:134154611C>T ENST00000452510.2 + 21 3052 c.2894C>T c.(2893-2895)gCc>gTc p.A965V DDX46_ENST00000354283.4_Missense_Mutation_p.A964V NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 964 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TACTCTGAAGCCGCAATTACA 0.413000 14 19 0 0 1 0 0 GBAP1 2630 broad.mit.edu 37 1 155188246 155188246 + RNA SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:155188246C>T ENST00000486869.1 - 0 120 NR_002188.2 ATGATGCTTACCCTACCCGAA 0.557000 50 226 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33338182 33338182 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:33338182G>A ENST00000374796.2 - 10 4386 c.1816C>T c.(1816-1818)Ctc>Ttc p.L606F NCOA6_ENST00000359003.2_Missense_Mutation_p.L606F Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 606 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ATGTTGCTGAGGTTCACTTGA 0.582000 8 84 0 0 1 0 0 SAT2 112483 broad.mit.edu 37 17 7530945 7530945 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:7530945G>A ENST00000269298.5 - 1 228 c.9C>T c.(7-9)tcC>tcT p.S3S SHBG_ENST00000574539.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000572182.1_Intron|SAT2_ENST00000573566.1_Silent_p.S3S NM_133491.3 NP_597998.1 Q96F10 SAT2_HUMAN spermidine/spermine N1-acetyltransferase family member 2 3 cytoplasm diamine N-acetyltransferase activity p.?(1) kidney(1)|large_intestine(2) 3 READ - Rectum adenocarcinoma(115;0.166) Spermine(DB00127) GGATCCGCACGGAAGCCATCC 0.622000 32 33 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398350 10398350 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:10398350C>T ENST00000226207.5 - 37 5458 c.5364G>A c.(5362-5364)aaG>aaA p.K1788K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1788 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTTCCAGGTTCTTCTTCATCC 0.542000 47 137 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40483533 40483533 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:40483533G>A ENST00000264657.5 - 11 1378 c.1066C>T c.(1066-1068)Cct>Tct p.P356S STAT3_ENST00000389272.3_Missense_Mutation_p.P258S|STAT3_ENST00000404395.3_Missense_Mutation_p.P356S|STAT3_ENST00000588969.1_Missense_Mutation_p.P356S|STAT3_ENST00000585517.1_Missense_Mutation_p.P356S NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 356 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TTCAACTCAGGGAATTTGACC 0.303000 Hyperimmunoglobulin E Recurrent Infection Syndrome 6 17 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64779312 64779312 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:64779312C>T ENST00000422803.1 + 2 1018 c.704C>T c.(703-705)gCc>gTc p.A235V AFTPH_ENST00000238856.4_Missense_Mutation_p.A235V|AFTPH_ENST00000238855.7_Missense_Mutation_p.A235V|AFTPH_ENST00000409933.1_Missense_Mutation_p.A235V Q6ULP2 AFTIN_HUMAN aftiphilin 235 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 GCAGATTTTGCCACATTTTCC 0.358000 15 39 0 0 1 0 0 TRPV1 7442 broad.mit.edu 37 17 3477143 3477143 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:3477143G>A ENST00000174621.6 - 12 2170 c.1881C>T c.(1879-1881)aaC>aaT p.N627N TRPV1_ENST00000310522.5_Silent_p.N569N|TRPV1_ENST00000399756.4_Silent_p.N629N|TRPV1_ENST00000571088.1_Silent_p.N629N|TRPV1_ENST00000399759.3_Silent_p.N629N|SHPK_ENST00000572705.1_Silent_p.N629N|TRPV1_ENST00000425167.2_Silent_p.N640N|TRPV1_ENST00000576351.1_Silent_p.N619N Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 629 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) AGTACAGGCTGTTGTAGGAGC 0.582000 6 65 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038181 75038181 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:75038181C>T ENST00000326665.5 - 14 3431 c.3213G>A c.(3211-3213)agG>agA p.R1071R C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1071 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AGTCAGTTTTCCTCAGAGATG 0.408000 65 81 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55961115 55961115 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:55961115C>T ENST00000263923.4 - 21 3120 c.2825G>A c.(2824-2826)gGg>gAg p.G942E NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 942 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GAATCGTGCCCCTTTGGTCTA 0.428000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 10 53 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34189815 34189815 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:34189815C>T ENST00000373381.4 - 19 3159 c.2983G>A c.(2983-2985)Gaa>Aaa p.E995K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 955 CUB 6. 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) TGAGATGTTTCGATAATCCAG 0.527000 16 57 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918195 51918195 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:51918195C>T ENST00000356298.5 - 8 1614 c.1498G>A c.(1498-1500)Ggg>Agg p.G500R SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000353836.5_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G500R|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G442R NM_033130.4 NP_149121.2 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 500 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GCCCAGGGCCCGGCTGAGCTG 0.701000 32 37 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735748 140735748 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140735748C>T ENST00000571252.1 + 1 981 c.981C>T c.(979-981)ctC>ctT p.L327L PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCTGGTCTCCGAGCTAGAA 0.458000 3 5 0 0 1 0 0 CCNJ 54619 broad.mit.edu 37 10 97810058 97810058 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:97810058C>T ENST00000265992.5 + 3 482 c.115C>T c.(115-117)Ctc>Ttc p.L39F ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.L39F|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.L39F|CCNJ_ENST00000534974.1_Missense_Mutation_p.L39F|ENTPD1-AS1_ENST00000427846.1_RNA NM_001134375.1|NM_001134376.1|NM_019084.4 NP_001127847.1|NP_001127848.1|NP_061957.2 Q5T5M9 CCNJ_HUMAN cyclin J 39 Cyclin N-terminal. nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) TCAGTTAAGTCTCAGACGGTA 0.468000 21 27 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 32014353 32014353 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:32014353C>T ENST00000432498.1 + 32 3978 c.3585C>T c.(3583-3585)ccC>ccT p.P1195P SFI1_ENST00000400289.1_Silent_p.P1144P|SFI1_ENST00000540643.1_Silent_p.P1171P|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000400288.2_Silent_p.P1226P|SFI1_ENST00000443326.1_Silent_p.P1144P|SFI1_ENST00000443011.1_Silent_p.P1073P NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 1226 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 AGCGCCAGCCCATTGGCGCCT 0.692000 12 38 0 0 1 0 0 ATXN10 25814 broad.mit.edu 37 22 46136371 46136371 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:46136371C>T ENST00000252934.5 + 9 1391 c.1126C>T c.(1126-1128)Cgt>Tgt p.R376C ATXN10_ENST00000381061.4_Missense_Mutation_p.R312C NM_013236.3 NP_037368.1 Q9UBB4 ATX10_HUMAN ataxin 10 376 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) TCATCTCATTCGTCTGATTGG 0.368000 25 97 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43908262 43908262 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:43908262C>T ENST00000314537.5 + 8 951 c.726C>T c.(724-726)atC>atT p.I242I CRHR1_ENST00000339069.5_Silent_p.I141I|CRHR1_ENST00000398285.3_Silent_p.I271I|CRHR1_ENST00000352855.5_Silent_p.I202I|CRHR1_ENST00000577353.1_Silent_p.I242I|CRHR1_ENST00000293493.7_Silent_p.I67I NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 271 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CCTTCCCCATCATTGTGGCCT 0.607000 13 49 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394337 164394337 + Missense_Mutation SNP C C T rs149496837 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:164394337C>T ENST00000280605.3 - 1 710 c.550G>A c.(550-552)Gac>Aac p.D184N NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 184 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CGGTTCACGTCGAAGACCGCC 0.522000 10 71 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16485145 16485145 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:16485145G>A ENST00000354981.2 - 10 1205 c.1048C>T c.(1048-1050)Cgc>Tgc p.R350C KIF16B_ENST00000408042.1_Missense_Mutation_p.R350C|KIF16B_ENST00000355755.3_Missense_Mutation_p.R350C|KIF16B_ENST00000378003.2_5'UTR NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 350 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTTGCATAGCGAAGAGTACTT 0.398000 62 82 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252580 124252580 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:124252580G>A ENST00000375013.2 - 1 678 c.660C>T c.(658-660)ttC>ttT p.F220F NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 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;0.0277) TAGTGACAATGAAAACATAAG 0.413000 50 49 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22304895 22304895 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:22304895C>T ENST00000337107.6 + 2 96 c.77C>T c.(76-78)tCc>tTc p.S26F NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 26 cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TCTCGCCCTTCCAGCCGCGTT 0.627000 20 35 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201031193 201031193 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:201031193C>T ENST00000362061.3 - 24 3158 c.2932G>A c.(2932-2934)Ggg>Agg p.G978R CACNA1S_ENST00000367338.3_Missense_Mutation_p.G978R NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 978 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATGGGGTCCCCGTCCTTGTAC 0.617000 20 19 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70355166 70355166 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:70355166G>A ENST00000305107.6 - 3 1039 c.993C>T c.(991-993)atC>atT p.I331I UGT2B4_ENST00000512583.1_Silent_p.I331I|UGT2B4_ENST00000381096.3_Silent_p.I195I|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 331 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 CCTTTTGTGGGATCTTGGCAA 0.398000 28 103 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6580149 6580149 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:6580149G>A ENST00000285599.3 + 3 351 c.315G>A c.(313-315)ctG>ctA p.L105L MAN2B2_ENST00000504248.1_Silent_p.L105L NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 105 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 AAGGACGCCTGGAATTTGTCA 0.592000 24 12 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 19 0 0 1 0 0 RBM24 221662 broad.mit.edu 37 6 17292009 17292009 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:17292009C>T ENST00000379052.5 + 4 606 c.370C>T c.(370-372)Ccg>Tcg p.P124S RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Missense_Mutation_p.P79S|RBM24_ENST00000425446.2_Missense_Mutation_p.P66S NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 124 cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) CTATGTCTATCCGCAGGCTTT 0.502000 144 140 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79755472 79755472 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:79755472C>T ENST00000305428.3 + 3 2437 c.2362C>T c.(2362-2364)Ctg>Ttg p.L788L NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 788 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 AGATGGCTTCCTGGTGGAGCA 0.607000 12 63 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66074565 66074565 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:66074565G>A ENST00000349533.6 + 12 1918 c.1733G>A c.(1732-1734)gGa>gAa p.G578E LEPR_ENST00000371060.3_Missense_Mutation_p.G578E|LEPR_ENST00000371058.1_Missense_Mutation_p.G578E|LEPR_ENST00000371059.3_Missense_Mutation_p.G578E|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.G578E NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 578 Fibronectin type-III 2. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GGTTTAAGTGGAAAAGAAGTA 0.303000 14 50 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101295467 101295467 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:101295467C>T ENST00000538618.1 + 4 402 c.402C>T c.(400-402)atC>atT p.I134I ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR Q32M45 ANO4_HUMAN anoctamin 4 0 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GTTTGCAAATCCATCAACGGC 0.493000 HNSCC(74;0.22) 21 45 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6631189 6631189 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:6631189C>T ENST00000333172.6 + 2 605 c.412C>T c.(412-414)Cct>Tct p.P138S TAS1R1_ENST00000328191.4_Missense_Mutation_p.P138S|TAS1R1_ENST00000351136.3_Missense_Mutation_p.P138S NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 138 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CCACTATTCCCCTACGGTGCT 0.592000 56 92 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70201880 70201880 + Silent SNP C C T rs145603046 byFrequency TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:70201880C>T ENST00000253925.7 + 18 2666 c.2451C>T c.(2449-2451)ggC>ggT p.G817G AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.G817G NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 817 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AAGAAAAGGGCCGACCTGGAC 0.547000 35 34 0 0 1 0 0 CXCL13 10563 broad.mit.edu 37 4 78532168 78532168 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:78532168C>T ENST00000286758.4 + 5 383 c.305C>T c.(304-306)cCa>cTa p.P102L NM_006419.2 NP_006410.1 O43927 CXL13_HUMAN chemokine (C-X-C motif) ligand 13 102 activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1) 4 CTACCAGTTCCAGTGTTTAAG 0.378000 40 53 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3045437 3045437 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:3045437G>A ENST00000520002.1 - 37 6132 c.5577C>T c.(5575-5577)atC>atT p.I1859I CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.I1859I|CSMD1_ENST00000400186.3_Silent_p.I1859I|CSMD1_ENST00000602557.1_Silent_p.I1859I|CSMD1_ENST00000542608.1_Silent_p.I1858I|CSMD1_ENST00000539096.1_Silent_p.I1858I|CSMD1_ENST00000537824.1_Silent_p.I1858I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1859 CUB 11. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CACCATCGTGGATCTCAAGGG 0.448000 4 22 0 0 1 0 0 CEACAM16 388551 broad.mit.edu 37 19 45206729 45206729 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:45206729G>A ENST00000587331.1 + 3 363 c.148G>A c.(148-150)Gcc>Acc p.A50T CEACAM16_ENST00000405314.2_Missense_Mutation_p.A50T|CTB-171A8.1_ENST00000590796.1_RNA NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 50 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) GGAACTGCTCGCCTACAGCTG 0.647000 11 52 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349474 65349474 + Missense_Mutation SNP G G C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:65349474G>C ENST00000309295.4 + 9 1596 c.1331G>C c.(1330-1332)gGg>gCg p.G444A NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 444 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GAGGCGACAGGGGTGATGCCT 0.607000 26 22 0 0 1 0 0 CMTR2 55783 broad.mit.edu 37 16 71318067 71318067 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:71318067G>A ENST00000338099.5 - 3 2093 c.1757C>T c.(1756-1758)tCg>tTg p.S586L FTSJD1_ENST00000434935.2_Missense_Mutation_p.S586L Q8IYT2 FTSJ1_HUMAN 586 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACGGAGAGTCGAAAAGCCCAC 0.433000 15 26 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124393214 124393214 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:124393214G>A ENST00000360013.3 + 49 7073 c.6946G>A c.(6946-6948)Gac>Aac p.D2316N KALRN_ENST00000291478.4_Missense_Mutation_p.D619N|KALRN_ENST00000459915.1_Missense_Mutation_p.D407N|KALRN_ENST00000428018.2_Missense_Mutation_p.D587N|KALRN_ENST00000393496.1_Missense_Mutation_p.D656N NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2315 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCAGCAGAACGACCTGGGAGG 0.537000 58 60 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84517853 84517853 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:84517853G>A ENST00000331369.5 + 0 47 CCACGTGCAGGAAGCCGGGTG 0.672000 6 5 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344418 53344418 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:53344418G>A ENST00000595646.1 - 4 1249 c.1129C>T c.(1129-1131)Cat>Tat p.H377Y ZNF468_ENST00000396409.4_Missense_Mutation_p.H324Y|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.H324Y|ZNF28_ENST00000594602.1_Intron Q5VIY5 ZN468_HUMAN zinc finger protein 468 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TCTCCAGTATGAAGTCTATGA 0.388000 47 77 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69095234 69095234 + Splice_Site SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:69095234C>T ENST00000332644.5 - 8 848 c.686_splice c.e8-1 p.K229_splice NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 229 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 AATTATTTTTCCTAGAGGACA 0.323000 5 37 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52850901 52850901 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:52850901G>A ENST00000371568.3 - 10 1733 c.1515C>T c.(1513-1515)ccC>ccT p.P505P ORC1_ENST00000371566.1_Silent_p.P505P NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 505 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GTTCCCGACAGGGAAGAGACT 0.473000 18 95 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23713508 23713508 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:23713508G>A ENST00000256797.4 - 11 1480 c.1312C>T c.(1312-1314)Cca>Tca p.P438S ERN2_ENST00000457008.2_Missense_Mutation_p.P390S NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 390 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GTATTCTCTGGAGGTCTTGTC 0.632000 49 77 0 0 1 0 0 C17orf103 256302 broad.mit.edu 37 17 21147471 21147471 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:21147471G>A ENST00000468196.1 - 2 317 c.172C>T c.(172-174)Ccg>Tcg p.P58S C17orf103_ENST00000399011.2_Missense_Mutation_p.T57I Q8N6N6 GTL3B_HUMAN chromosome 17 open reading frame 103 0 endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 TGGGACCTCGGTGTGCTGCAG 0.647000 20 28 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166145 140166145 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140166145C>T ENST00000504120.2 + 1 270 c.270C>T c.(268-270)atC>atT p.I90I PCDHA1_ENST00000394633.3_Silent_p.I90I|PCDHA1_ENST00000378133.3_Silent_p.I90I NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGATCGCGAGG 0.577000 33 116 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247751946 247751946 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:247751946C>T ENST00000320065.1 + 1 285 c.285C>T c.(283-285)atC>atT p.I95I RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGAAAACTATCGCCTATGGTG 0.527000 23 156 0 0 1 0 0 CA2 760 broad.mit.edu 37 8 86392944 86392944 + Missense_Mutation SNP G G A rs143666045 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:86392944G>A ENST00000285379.5 + 7 939 c.709G>A c.(709-711)Gaa>Aaa p.E237K NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 237 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) GGGTGAACCCGAAGAACTGAT 0.398000 17 105 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23862683 23862683 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:23862683G>A ENST00000405093.3 - 23 3043 c.2973C>T c.(2971-2973)atC>atT p.I991I MYH6_ENST00000356287.3_Silent_p.I991I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 991 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCAGCTTAGCGATGATTTCAT 0.522000 83 90 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41137656 41137656 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr21:41137656G>A ENST00000380588.4 + 3 398 c.295G>A c.(295-297)Gac>Aac p.D99N IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 99 Ig-like V-type 1. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) TCAGAGGTACGACCAGGGCGG 0.567000 14 37 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769860 50769860 + Missense_Mutation SNP A A G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:50769860A>G ENST00000216923.4 - 6 1220 c.871T>C c.(871-873)Ttc>Ctc p.F291L ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.F237L|ZFP64_ENST00000371515.4_Missense_Mutation_p.F289L NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 ACATTGCAGAACTCGCACTTG 0.547000 64 48 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149924335 149924335 + Nonsense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:149924335C>T ENST00000445323.2 + 15 1976 c.1855C>T c.(1855-1857)Cag>Tag p.Q619* MTMR1_ENST00000370390.3_Nonsense_Mutation_p.Q611*|MTMR1_ENST00000544228.1_Nonsense_Mutation_p.Q611*|MTMR1_ENST00000541925.1_Nonsense_Mutation_p.Q517*|MTMR1_ENST00000538506.1_3'UTR Q13613 MTMR1_HUMAN myotubularin related protein 1 611 plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GATGAGACCTCAGGTATCTTT 0.338000 23 16 0 0 1 0 0 SH3BP1 23616 broad.mit.edu 37 22 38039157 38039157 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:38039157C>T ENST00000599616.1 + 4 257 c.257C>T c.(256-258)tCc>tTc p.S86F Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.S150F|SH3BP1_ENST00000357436.4_Missense_Mutation_p.S150F|SH3BP1_ENST00000336738.5_Missense_Mutation_p.S150F|SH3BP1_ENST00000495174.1_3'UTR Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 150 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) AAGCTCGTGTCCGACTGGAAC 0.617000 OREG0026546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 39 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784955 9784955 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:9784955C>T ENST00000304374.2 + 1 1698 c.1302C>T c.(1300-1302)ttC>ttT p.F434F NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 434 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AGGGTCCTTTCGATCGCATGT 0.557000 7 73 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25923937 25923937 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:25923937C>T ENST00000377850.3 - 3 750 c.226G>A c.(226-228)Gaa>Aaa p.E76K SLC17A2_ENST00000265425.3_Missense_Mutation_p.E76K|SLC17A2_ENST00000360488.3_Missense_Mutation_p.E76K O00624 NPT3_HUMAN solute carrier family 17, member 2 76 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GTATCAAATTCCTTGATGGAT 0.433000 82 80 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204844 9204844 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9204844G>A ENST00000429566.3 + 1 990 c.924G>A c.(922-924)aaG>aaA p.K308K NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K308N(1) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TCAACAGAAAGATCACCTCAT 0.498000 10 39 0 0 1 0 0 STK38 11329 broad.mit.edu 37 6 36492192 36492192 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:36492192G>A ENST00000229812.7 - 4 517 c.232C>T c.(232-234)Cgt>Tgt p.R78C NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 78 Interaction with S100B. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTCTTCAAACGAAGAAACTCT 0.393000 36 64 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16024698 16024698 + Missense_Mutation SNP G G A rs149231661 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:16024698G>A ENST00000326742.7 - 11 1355 c.1354C>T c.(1354-1356)Cgc>Tgc p.R452C CYP4F11_ENST00000248041.7_Silent_p.F473F|CYP4F11_ENST00000402119.3_Silent_p.F473F Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 0 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CAGCCATGGCGAACGCCTGCC 0.612000 21 31 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307693 140307693 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140307693G>A ENST00000253807.2 + 1 1216 c.1216G>A c.(1216-1218)Gag>Aag p.E406K PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E406K|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGACCGGGAGCAGATCAG 0.532000 9 44 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109201509 109201509 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:109201509C>T ENST00000326495.5 - 8 724 c.631G>A c.(631-633)Gag>Aag p.E211K SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Missense_Mutation_p.E211K|SSH1_ENST00000326470.5_Missense_Mutation_p.E222K NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 211 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATGCAGCTCTCATAGTAGGTA 0.617000 8 112 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105139465 105139465 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:105139465G>A ENST00000428173.2 + 7 832 c.529G>A c.(529-531)Gac>Aac p.D177N NRK_ENST00000243300.9_Missense_Mutation_p.D177N Q7Z2Y5 NRK_HUMAN Nik related kinase 177 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AATTCACCGGGACATCAAAGG 0.348000 HNSCC(51;0.14) 33 34 0 0 1 0 0 IFNA5 3442 broad.mit.edu 37 9 21305245 21305245 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:21305245G>A ENST00000259555.4 - 1 67 c.11C>T c.(10-12)cCc>cTc p.P4L NM_002169.2 NP_002160.1 P01569 IFNA5_HUMAN interferon, alpha 5 4 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TAAAACAAAGGGCAAGGCCAT 0.522000 62 20 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 815580 815580 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:815580C>T ENST00000566549.1 + 9 1175 c.758C>T c.(757-759)cCc>cTc p.P253L MSLN_ENST00000563941.1_Missense_Mutation_p.P253L|MSLN_ENST00000545450.2_Missense_Mutation_p.P253L|MSLN_ENST00000382862.3_Missense_Mutation_p.P253L Q13421 MSLN_HUMAN mesothelin 253 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GGCCTGCTGCCCGTGCTGGGC 0.711000 9 35 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090186 9090186 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9090186C>T ENST00000397910.4 - 1 1832 c.1629G>A c.(1627-1629)atG>atA p.M543I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 543 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 TCTCTGTTTTCATGCTAGGAC 0.532000 20 51 0 0 1 0 0 KIAA2013 90231 broad.mit.edu 37 1 11985529 11985529 + Missense_Mutation SNP T T A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:11985529T>A ENST00000376572.3 - 1 951 c.766A>T c.(766-768)Act>Tct p.T256S KIAA2013_ENST00000376576.3_Missense_Mutation_p.T256S NM_138346.2 NP_612355.1 Q8IYS2 K2013_HUMAN KIAA2013 256 integral to membrane endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCAACCCAGTGGGCGTAGGC 0.657000 14 11 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072151 17072151 + Missense_Mutation SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:17072151C>A ENST00000359963.3 - 1 1549 c.1290G>T c.(1288-1290)ttG>ttT p.L430F NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 430 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGGGCCCTTCCAATCTGCTTC 0.493000 23 104 2.89027e-11 2.95937e-11 1 1 0 KLHL24 54800 broad.mit.edu 37 3 183397024 183397024 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:183397024C>T ENST00000454652.1 + 9 2139 c.1753C>T c.(1753-1755)Cat>Tat p.H585Y KLHL24_ENST00000242810.6_Missense_Mutation_p.H585Y Q6TFL4 KLH24_HUMAN kelch-like family member 24 585 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AGTGTCCTATCATGGCTGTGT 0.453000 38 33 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43411146 43411146 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:43411146G>A ENST00000187910.2 - 5 1233 c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F PSG6_ENST00000402603.4_Missense_Mutation_p.L297F|PSG6_ENST00000292125.2_Missense_Mutation_p.L390F NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) CAAGCATAGAGCCCGCTATGA 0.448000 124 165 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306810 54306810 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:54306810C>T ENST00000545554.1 + 1 1710 c.1710C>T c.(1708-1710)ttC>ttT p.F570F UNC13C_ENST00000260323.11_Silent_p.F570F|UNC13C_ENST00000537900.1_Silent_p.F570F Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 570 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) ATCAGTTTTTCACTAGAACTA 0.428000 15 22 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157685 26157685 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:26157685C>T ENST00000325250.1 + 2 770 c.583C>T c.(583-585)Ccc>Tcc p.P195S NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 195 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AGAAAAAATTCCCAAGACTGG 0.443000 8 7 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45739290 45739290 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr21:45739290C>T ENST00000403390.1 + 12 1260 c.1260C>T c.(1258-1260)ctC>ctT p.L420L PFKL_ENST00000349048.4_Silent_p.L373L P17858 K6PL_HUMAN phosphofructokinase, liver 373 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) CCACCCAGCTCCGTGGTGGGT 0.592000 8 95 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16266988 16266988 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:16266988C>T ENST00000343518.6 - 9 1512 c.1461G>A c.(1459-1461)agG>agA p.R487R NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 487 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTCTGCTTTTCCTTGGTGGAA 0.433000 59 217 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191941042 191941042 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:191941042G>A ENST00000392320.2 - 4 597 c.283C>T c.(283-285)Cat>Tat p.H95Y STAT4_ENST00000358470.4_Missense_Mutation_p.H95Y NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 95 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GGATTTCCATGAAATTTTCCC 0.328000 29 31 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327955 152327955 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:152327955G>A ENST00000388718.5 - 3 2379 c.2307C>T c.(2305-2307)agC>agT p.S769S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 769 Ser-rich. calcium ion binding|structural molecule activity p.S769S(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGGCCATAGCTAGACTGAC 0.517000 9 668 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578400 7578400 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:7578400G>A ENST00000420246.2 - 5 662 c.530C>T c.(529-531)cCc>cTc p.P177L TP53_ENST00000269305.4_Missense_Mutation_p.P177L|TP53_ENST00000455263.2_Missense_Mutation_p.P177L|TP53_ENST00000445888.2_Missense_Mutation_p.P177L|TP53_ENST00000413465.2_Missense_Mutation_p.P177L|TP53_ENST00000359597.4_Missense_Mutation_p.P177L|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 177 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTCATGGTGGGGGCAGCGCCT 0.647000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 60 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81589138 81589138 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:81589138G>A ENST00000356860.3 - 37 3312 c.2974C>T c.(2974-2976)Cat>Tat p.H992Y CACNA2D1_ENST00000535308.1_Missense_Mutation_p.H204Y|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.H1004Y NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 1004 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTTTCTCCATGAAAGATTCTG 0.333000 5 20 0 0 1 0 0 HLF 3131 broad.mit.edu 37 17 53392612 53392612 + Missense_Mutation SNP A A T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:53392612A>T ENST00000226067.5 + 3 949 c.476A>T c.(475-477)aAt>aTt p.N159I HLF_ENST00000430986.2_Missense_Mutation_p.N74I|HLF_ENST00000575345.1_Missense_Mutation_p.N74I|HLF_ENST00000573945.1_Missense_Mutation_p.N74I NM_002126.4 NP_002117.1 Q16534 HLF_HUMAN hepatic leukemia factor 159 Pro-rich (proline/acidic region (PAR)). multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 GCAAACCGCAATACACCAAGT 0.517000 T TCF3 ALL 35 37 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179427525 179427525 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179427525C>T ENST00000589042.1 - 326 83558 c.83334G>A c.(83332-83334)gtG>gtA p.V27778V TTN_ENST00000591111.1_Silent_p.V26137V|TTN_ENST00000342175.6_Silent_p.V18905V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.V18838V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.V18713V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.V25210V|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26137 Fibronectin type-III 102. 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) AGTCTTTCTTCACTTCTCTTA 0.398000 15 16 0 0 1 0 0 MIR527 574497 broad.mit.edu 37 19 54257292 54257292 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:54257292G>A ENST00000385244.1 + 0 21 NR_030219.1 TGACTGCAAAGGGAAGCCCTT 0.413000 9 207 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604237 179604237 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179604237C>T ENST00000589042.1 - 48 13947 c.13723G>A c.(13723-13725)Gaa>Aaa p.E4575K TTN_ENST00000591111.1_Missense_Mutation_p.E4258K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4404K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4337K|TTN_ENST00000460472.2_Missense_Mutation_p.E4212K|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4258 Ig-like 26. 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) TCCTCTTTTTCCTCTGATGGT 0.448000 17 58 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117727192 117727192 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:117727192C>T ENST00000276204.6 + 20 2229 c.2155C>T c.(2155-2157)Ccc>Tcc p.P719S DOCK11_ENST00000276202.7_Missense_Mutation_p.P719S Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 719 DHR-1. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AATTGAGCTTCCCATTCACCT 0.338000 30 31 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62235071 62235071 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:62235071C>T ENST00000371158.2 + 5 615 c.501C>T c.(499-501)gtC>gtT p.V167V INADL_ENST00000316485.6_Silent_p.V167V NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 167 PDZ 1. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TGAAGGATGTCCAGCCAGGGA 0.403000 48 79 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141122267 141122267 + Missense_Mutation SNP G G C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:141122267G>C ENST00000389484.3 - 72 12065 c.11094C>G c.(11092-11094)gaC>gaG p.D3698E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3698 LDL-receptor class A 30. 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) TGTCTCCACAGTCGTCCTCTC 0.408000 TSP Lung(27;0.18) 5 101 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95081172 95081172 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:95081172G>A ENST00000553947.1 + 5 1357 c.469G>A c.(469-471)Gag>Aag p.E157K SERPINA3_ENST00000467132.1_Missense_Mutation_p.E132K|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E132K|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E132K P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 132 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GTCCAGCGATGAGCTGCAGCT 0.537000 16 30 0 0 1 0 0 ABTB2 25841 broad.mit.edu 37 11 34226192 34226192 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:34226192G>A ENST00000435224.2 - 2 1353 c.929C>T c.(928-930)tCc>tTc p.S310F ABTB2_ENST00000298992.2_Missense_Mutation_p.S124F|ABTB2_ENST00000530814.1_5'UTR NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 124 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) ATGGCCCAGGGACCCGCCGTT 0.627000 22 13 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242690671 242690671 + Missense_Mutation SNP T T A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:242690671T>A ENST00000321264.4 + 8 1217 c.1008T>A c.(1006-1008)ttT>ttA p.F336L D2HGDH_ENST00000403782.1_Missense_Mutation_p.F202L|D2HGDH_ENST00000486953.1_Intron NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 336 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) AGAGTCCGTTTTACGTCCTCA 0.602000 20 86 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117683900 117683900 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:117683900C>T ENST00000368508.3 - 21 3445 c.3247G>A c.(3247-3249)Gaa>Aaa p.E1083K GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E1078K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1083 Fibronectin type-III 5. 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) TAGAAAATTTCAAATTTTGTT 0.338000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 15 45 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 373472 373472 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:373472G>A ENST00000342640.4 - 4 605 c.563C>T c.(562-564)cCc>cTc p.P188L THEG_ENST00000346878.2_Missense_Mutation_p.P164L NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 188 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 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) CCACCTACCGGGCACTGTGAT 0.667000 16 31 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20793104 20793104 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:20793104C>T ENST00000404938.2 + 27 4203 c.3551C>T c.(3550-3552)tCa>tTa p.S1184L ABCB5_ENST00000258738.6_Missense_Mutation_p.S739L NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 739 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GAGGCCACTTCAGCCCTCGAT 0.398000 31 39 0 0 1 0 0 GOLGA5 9950 broad.mit.edu 37 14 93264102 93264102 + Nonsense_Mutation SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:93264102C>A ENST00000163416.2 + 2 576 c.320C>A c.(319-321)tCa>tAa p.S107* GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.S107* NM_005113.2 NP_005104.2 Q8TBA6 GOGA5_HUMAN golgin A5 107 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) CCTAGGCCTTCATCCCATTTT 0.458000 T RET papillary thyroid 28 34 1.16021e-09 1.17637e-09 1 1 0 FBN2 2201 broad.mit.edu 37 5 127730894 127730894 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:127730894C>T ENST00000508053.1 - 15 2126 c.1152G>A c.(1150-1152)acG>acA p.T384T FBN2_ENST00000262464.4_Silent_p.T384T|FBN2_ENST00000508989.1_Silent_p.T351T P35556 FBN2_HUMAN fibrillin 2 384 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACTGCATTTTCGTCATTCTCC 0.547000 21 24 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131353841 131353841 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:131353841C>T ENST00000372739.3 + 22 3202 c.3092C>T c.(3091-3093)tCc>tTc p.S1031F SPTAN1_ENST00000358161.5_Missense_Mutation_p.S1031F|SPTAN1_ENST00000372731.4_Missense_Mutation_p.S1031F NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1031 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CAGTCAGCCTCCCGGGAGAAT 0.562000 25 125 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196682902 196682902 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:196682902G>A ENST00000367429.4 + 10 1614 c.1374G>A c.(1372-1374)ggG>ggA p.G458G NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 458 Sushi 8. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTGAGAATGGGTTTATTTCTG 0.294000 4 35 0 0 1 0 0 TOM1 10043 broad.mit.edu 37 22 35719109 35719109 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:35719109C>T ENST00000382034.5 + 5 446 c.104C>T c.(103-105)aCc>aTc p.T35I TOM1_ENST00000411850.1_Missense_Mutation_p.T102I|TOM1_ENST00000447733.1_Missense_Mutation_p.T69I|TOM1_ENST00000436462.2_Missense_Mutation_p.T64I|TOM1_ENST00000425375.1_Missense_Mutation_p.T102I|TOM1_ENST00000449058.2_Missense_Mutation_p.T102I O60784 TOM1_HUMAN target of myb1 (chicken) 102 VHS. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 CTGGTGAGGACCATCCTGCCC 0.607000 49 30 0 0 1 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67860896 67860896 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:67860896G>A ENST00000388833.3 + 13 1800 c.1423G>A c.(1423-1425)Gag>Aag p.E475K TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E529K|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E460K NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 475 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) CACCCAGAAGGAGACAGTAGC 0.522000 38 80 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104133441 104133441 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:104133441C>T ENST00000259407.2 - 2 354 c.246G>A c.(244-246)ctG>ctA p.L82L BAAT_ENST00000395051.3_Silent_p.L82L NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 82 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TTTCAGGTTTCAGAGACCAGA 0.423000 90 31 0 0 1 0 0 METTL7B 196410 broad.mit.edu 37 12 56075839 56075839 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:56075839C>T ENST00000394252.3 + 1 510 c.301C>T c.(301-303)Ccc>Tcc p.P101S NM_152637.2 NP_689850.2 Q6UX53 MET7B_HUMAN methyltransferase like 7B 101 methyltransferase activity kidney(1)|large_intestine(1)|lung(4) 6 AGACCCAAATCCCCACTTTGA 0.582000 13 50 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113238119 113238119 + Missense_Mutation SNP C C T rs140221891 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:113238119C>T ENST00000369644.1 + 12 2563 c.1534C>T c.(1534-1536)Cgg>Tgg p.R512W MOV10_ENST00000413052.2_Missense_Mutation_p.R568W|MOV10_ENST00000357443.2_Missense_Mutation_p.R568W|MOV10_ENST00000369645.1_Missense_Mutation_p.R568W|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 568 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TCAAAGGCTCCGGGTCCACCT 0.597000 12 46 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3678689 3678689 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:3678689C>T ENST00000344754.4 - 8 1877 c.1878G>A c.(1876-1878)gtG>gtA p.V626V SIGLEC1_ENST00000202578.4_Silent_p.V626V NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 626 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GGTCGCTGTCCACACGGCACA 0.672000 10 36 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74771214 74771214 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:74771214C>T ENST00000588460.1 + 11 3052 c.1010C>T c.(1009-1011)cCt>cTt p.P337L MFSD11_ENST00000355954.3_Missense_Mutation_p.P285L|MFSD11_ENST00000593181.1_Missense_Mutation_p.P285L|MFSD11_ENST00000590514.1_Missense_Mutation_p.P337L|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000336509.4_Missense_Mutation_p.P337L|MFSD11_ENST00000586622.1_Missense_Mutation_p.P337L NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 337 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 CCGATTGCTCCTGTTAAAGGA 0.463000 35 57 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38743382 38743382 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:38743382G>A ENST00000449082.2 - 26 4604 c.4605C>T c.(4603-4605)ttC>ttT p.F1535F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1535 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) AGCCATTTGTGAAGTAGTACT 0.488000 31 30 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16328252 16328252 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:16328252G>A ENST00000244769.4 - 8 1226 c.290C>T c.(289-291)cCc>cTc p.P97L ATXN1_ENST00000436367.1_Missense_Mutation_p.P97L NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 97 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGTGGCCACGGGGACAGACCT 0.642000 74 122 0 0 1 0 0 BPIFA3 128861 broad.mit.edu 37 20 31805443 31805443 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:31805443G>A ENST00000375454.3 + 1 311 c.101G>A c.(100-102)aGa>aAa p.R34K BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.R34K NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 34 extracellular region lipid binding CAAGCCCACAGAGACAACAAA 0.622000 25 77 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29598891 29598891 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:29598891G>A ENST00000431530.3 + 1 144 c.86G>A c.(85-87)aGa>aAa p.R29K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 19 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.R29I(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CGGGACAACAGAAATGCAGCA 0.458000 38 22 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6065781 6065781 + Missense_Mutation SNP C C T rs151300234 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:6065781C>T ENST00000217289.4 - 12 2313 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K FERMT1_ENST00000536936.1_Missense_Mutation_p.E252K|FERMT1_ENST00000478194.1_5'UTR NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 509 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TCCATGTTTTCGAGACTGGAA 0.448000 44 68 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67039259 67039259 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:67039259C>T ENST00000540947.2 + 11 1462 c.1278C>T c.(1276-1278)ttC>ttT p.F426F CES4A_ENST00000398354.1_Silent_p.F399F|CES4A_ENST00000540579.1_Silent_p.F328F|CES4A_ENST00000535696.1_Silent_p.F332F|CES4A_ENST00000326686.5_Silent_p.F426F|CES4A_ENST00000541479.1_Silent_p.F422F|CES4A_ENST00000338718.4_Silent_p.F449F NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 426 extracellular region carboxylesterase activity p.F399L(1) large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 ATGCCACTTTCGTGTATGCCA 0.532000 24 61 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115828696 115828696 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:115828696C>T ENST00000369512.2 - 3 889 c.721G>A c.(721-723)Gcc>Acc p.A241T RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 241 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) GCAGGTCAGGCTCTTCTCACA 0.552000 36 38 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442627 138442627 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:138442627C>T ENST00000344876.4 - 4 3350 c.2964G>A c.(2962-2964)aaG>aaA p.K988K PCDH18_ENST00000412923.2_Silent_p.K987K|PCDH18_ENST00000510305.1_Silent_p.K199K|PCDH18_ENST00000511115.1_Silent_p.K168K|PCDH18_ENST00000507846.1_Silent_p.K767K NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 988 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TTGGGGAGTCCTTTCCAAAGG 0.527000 7 69 0 0 1 0 0 KAAG1 353219 broad.mit.edu 37 6 24358078 24358078 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:24358078G>A ENST00000274766.1 + 1 948 c.211G>A c.(211-213)Gaa>Aaa p.E71K DCDC2_ENST00000378454.3_5'UTR NM_181337.3 NP_851854.1 Q9UBP8 KAAG1_HUMAN kidney associated antigen 1 71 immune response central_nervous_system(1)|lung(1)|prostate(1) 3 ATCGCCTCCTGAAACGAACGA 0.657000 25 66 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54903752 54903752 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:54903752C>T ENST00000293373.6 + 7 797 c.718C>T c.(718-720)Cct>Tct p.P240S NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P190S|NCKAP1L_ENST00000552211.1_3'UTR NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 240 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CATGATTAACCCTGCTAATTC 0.493000 49 77 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28750652 28750652 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:28750652C>T ENST00000399613.1 + 3 200 c.137C>T c.(136-138)tCc>tTc p.S46F PAN3_ENST00000380958.3_Missense_Mutation_p.S192F Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 192 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) AGTAGCAGCTCCCCAAGCCTT 0.358000 50 29 0 0 1 0 0 CLDN3 1365 broad.mit.edu 37 7 73184018 73184018 + Missense_Mutation SNP C C G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:73184018C>G ENST00000395145.2 - 1 582 c.362G>C c.(361-363)gGc>gCc p.G121A NM_001306.3 NP_001297.1 O15551 CLD3_HUMAN claudin 3 121 response to hypoxia integral to plasma membrane|tight junction structural molecule activity|transmembrane receptor activity kidney(1)|lung(1) 2 Lung NSC(55;0.159) GAACAGCACGCCTGCCACGAT 0.672000 24 25 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123109300 123109300 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:123109300C>T ENST00000466202.1 - 9 2125 c.1549G>A c.(1549-1551)Gat>Aat p.D517N IQUB_ENST00000434450.1_Missense_Mutation_p.D517N|IQUB_ENST00000324698.6_Missense_Mutation_p.D517N Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 517 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 AACAGCACATCCAGCCTCTCA 0.358000 34 51 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089626 86089626 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:86089626G>A ENST00000330753.4 + 2 2535 c.1768G>A c.(1768-1770)Gag>Aag p.E590K FLRT2_ENST00000554746.1_Missense_Mutation_p.E590K NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 590 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGATTATTGCGAGGCAGGCAC 0.488000 32 164 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40464578 40464578 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:40464578G>A ENST00000301825.3 + 8 1187 c.1069G>A c.(1069-1071)Ggg>Agg p.G357R ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.G357R|ENTPD3_ENST00000456402.1_Missense_Mutation_p.G357R|ENTPD3-AS1_ENST00000452768.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 357 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) TTCTTTTGATGGGGTTTATCA 0.403000 53 42 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904058 5904058 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:5904058G>A ENST00000378961.4 + 4 1472 c.1268G>A c.(1267-1269)gGa>gAa p.G423E NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 423 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AGAGGCAGGGGAGGGGAGCCA 0.532000 52 127 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343937 248343937 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248343937C>T ENST00000359682.2 + 1 650 c.650C>T c.(649-651)tCc>tTc p.S217F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 217 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) ATCATTGCTTCCTATGCTCGA 0.433000 31 214 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99515323 99515323 + Nonsense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:99515323G>A ENST00000376460.1 - 32 3609 c.3529C>T c.(3529-3531)Cag>Tag p.Q1177* DOCK9_ENST00000339416.2_Nonsense_Mutation_p.Q1178*|DOCK9_ENST00000448493.2_Nonsense_Mutation_p.Q1189*|DOCK9_ENST00000442173.1_Nonsense_Mutation_p.Q1177*|DOCK9_ENST00000461998.1_5'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1178 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTGATCCGCTGGACGTTTTCA 0.517000 9 5 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137206693 137206693 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:137206693G>A ENST00000453654.1 - 21 1806 c.1267C>T c.(1267-1269)Cgt>Tgt p.R423C DGKI_ENST00000424189.2_Missense_Mutation_p.R744C|DGKI_ENST00000288490.5_Missense_Mutation_p.R723C|DGKI_ENST00000446122.1_Missense_Mutation_p.R723C O75912 DGKI_HUMAN diacylglycerol kinase, iota 723 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ATCCTCAGACGATCTGGGACA 0.463000 16 14 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96134470 96134470 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:96134470G>A ENST00000467865.1 + 0 1821 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) CAGATCACGGGAATTACAAGT 0.418000 T TRA@ T-ALL 28 36 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40055069 40055069 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:40055069G>A ENST00000336649.4 + 15 2296 c.2296G>A c.(2296-2298)Gac>Aac p.D766N CACNA1I_ENST00000407673.1_Missense_Mutation_p.D725N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D725N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D760N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D760N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D725N Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 760 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GAAGACCATGGACAACGTGGC 0.627000 6 80 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70201881 70201881 + Nonsense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:70201881C>T ENST00000253925.7 + 18 2667 c.2452C>T c.(2452-2454)Cga>Tga p.R818* AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.R818* NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 818 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AGAAAAGGGCCGACCTGGACA 0.542000 36 34 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121348916 121348916 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:121348916C>T ENST00000260197.7 + 3 621 c.492C>T c.(490-492)atC>atT p.I164I SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 164 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) AAGCTGTTATCGCCCAGTTCT 0.478000 4 20 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20648307 20648307 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:20648307C>T ENST00000525748.1 + 8 1587 c.1314C>T c.(1312-1314)atC>atT p.I438I NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 438 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) TCCTCCTCATCCGAGGAGTCA 0.562000 56 33 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38119752 38119752 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:38119752C>T ENST00000261439.4 + 17 3256 c.2901C>T c.(2899-2901)gcC>gcT p.A967A TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 967 Rab-GAP TBC. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCTACGCTGCCCCCTGGTTCC 0.532000 56 187 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182766492 182766492 + Splice_Site SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:182766492G>A ENST00000431877.2 + 8 891 c.e8-1 SSFA2_ENST00000428267.2_Splice_Site|SSFA2_ENST00000409001.1_Splice_Site|SSFA2_ENST00000320370.7_Splice_Site NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCTTTTGGTAGGCCGTTTTCG 0.318000 5 52 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17597610 17597610 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:17597610G>A ENST00000375460.3 + 9 1024 c.984G>A c.(982-984)agG>agA p.R328R NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 328 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGCTGGCCAGGAAGGCCGGCT 0.652000 19 24 0 0 1 0 0 PTRHD1 391356 broad.mit.edu 37 2 25016004 25016004 + Silent SNP C C T rs147683338 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:25016004C>T ENST00000328379.4 - 1 247 c.243G>A c.(241-243)gtG>gtA p.V81V NM_001013663.1 NP_001013685.1 Q6GMV3 PTRD1_HUMAN peptidyl-tRNA hydrolase domain containing 1 81 translation aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1) 6 CCTCGAGGACCACTTTGCGCA 0.682000 17 31 0 0 1 0 0 LCE3E 353145 broad.mit.edu 37 1 152538467 152538467 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:152538467C>T ENST00000368789.1 - 2 273 c.218G>A c.(217-219)aGg>aAg p.R73K NM_178435.2 NP_848522.1 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 73 keratinization lung(6)|ovary(1) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) ACCACTGCCCCTGTCACAGGA 0.652000 32 225 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128294260 128294260 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:128294260G>A ENST00000368227.3 - 30 4593 c.4227C>T c.(4225-4227)atC>atT p.I1409I PTPRK_ENST00000532331.1_Silent_p.I1414I|PTPRK_ENST00000368215.3_Silent_p.I1391I|PTPRK_ENST00000368207.3_Silent_p.I1424I|PTPRK_ENST00000368210.3_Silent_p.I1410I|PTPRK_ENST00000368213.5_Silent_p.I1398I|PTPRK_ENST00000368226.4_Silent_p.I1392I Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1391 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) TTTCAACAACGATGCCTATAG 0.478000 40 74 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511156 61511156 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:61511156G>A ENST00000266070.4 - 16 6477 c.6152C>T c.(6151-6153)tCc>tTc p.S2051F DIDO1_ENST00000395343.1_Missense_Mutation_p.S2051F NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2051 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) CGCACTGGAGGAGAGCGCGGA 0.701000 144 120 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114680609 114680609 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:114680609C>T ENST00000393296.1 - 3 656 c.579G>A c.(577-579)gaG>gaA p.E193E SYT6_ENST00000369547.1_Silent_p.E108E Q5T7P8 SYT6_HUMAN synaptotagmin VI 193 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGGTGGAAGCTCATTGCCAT 0.597000 12 51 0 0 1 0 0 SLC9B2 133308 broad.mit.edu 37 4 103988684 103988684 + Silent SNP A A T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:103988684A>T ENST00000394785.3 - 2 655 c.24T>A c.(22-24)atT>atA p.I8I SLC9B2_ENST00000362026.3_Silent_p.I8I|SLC9B2_ENST00000503103.1_Silent_p.I8I|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000339611.4_Silent_p.I8I|SLC9B2_ENST00000503230.1_Silent_p.I8I NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 8 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity CTTCATATGTAATTCTTTTAT 0.353000 21 23 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962701 69962701 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:69962701C>T ENST00000305231.7 + 1 509 c.463C>T c.(463-465)Ccc>Tcc p.P155S UGT2B7_ENST00000508661.1_Missense_Mutation_p.P155S|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 155 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGCTATTTTTCCCTGTAGTGA 0.358000 63 51 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44691282 44691282 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:44691282G>A ENST00000290231.6 - 8 1561 c.1397C>T c.(1396-1398)tCc>tTc p.S466F NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 466 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TGCTGCTGTGGAAAAATTCTG 0.542000 30 248 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119903607 119903607 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:119903607C>T ENST00000313400.4 - 4 1266 c.1166G>A c.(1165-1167)cGa>cAa p.R389Q ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.R389Q O75129 ASTN2_HUMAN astrotactin 2 389 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GGGCCTACCTCGAGACTTGCT 0.572000 33 14 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79025306 79025306 + Missense_Mutation SNP A A T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:79025306A>T ENST00000446378.2 + 2 749 c.718A>T c.(718-720)Att>Ttt p.I240F NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 240 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGAAGAATTAATTCCTCTACA 0.313000 9 29 0 0 1 0 0 MKNK1 8569 broad.mit.edu 37 1 47048920 47048920 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:47048920G>A ENST00000371946.4 - 3 279 c.116C>T c.(115-117)tCc>tTc p.S39F MKNK1_ENST00000545730.1_Missense_Mutation_p.S39F|MKNK1_ENST00000428112.2_Missense_Mutation_p.S39F|MKNK1_ENST00000371945.4_Missense_Mutation_p.S39F|MKNK1_ENST00000341183.5_Missense_Mutation_p.S39F|MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000465783.1_Missense_Mutation_p.S39F NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 39 intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) TCCTGGCAAGGAGTCAGTGGC 0.572000 27 131 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36917621 36917621 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:36917621C>T ENST00000310758.4 - 19 2463 c.1816G>A c.(1816-1818)Gac>Aac p.D606N ELMO1_ENST00000448602.1_Missense_Mutation_p.D606N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D606N|ELMO1_ENST00000341056.3_Missense_Mutation_p.D308N|ELMO1_ENST00000396045.3_Missense_Mutation_p.D126N|ELMO1_ENST00000396040.2_Missense_Mutation_p.D126N NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 606 PH. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TTACGTTTGTCCTGCAAGGAA 0.478000 19 17 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45217804 45217804 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:45217804G>A ENST00000279027.4 - 7 1029 c.1011C>T c.(1009-1011)ccC>ccT p.P337P SLC13A3_ENST00000290317.5_Silent_p.P290P|SLC13A3_ENST00000413164.2_Silent_p.P287P|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000396360.1_Silent_p.P290P|SLC13A3_ENST00000495082.1_Silent_p.P290P|SLC13A3_ENST00000472148.1_Silent_p.P290P|SLC13A3_ENST00000372121.1_Silent_p.P287P NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 337 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CATACTTGATGGGCCCCAGGT 0.527000 33 94 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38885135 38885135 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:38885135G>A ENST00000359357.3 + 67 9864 c.9610G>A c.(9610-9612)Gat>Aat p.D3204N DNAH8_ENST00000441566.1_Missense_Mutation_p.D3168N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3421N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGTTACTATGGATCCAGAAAA 0.398000 27 91 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343714 248343714 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248343714C>T ENST00000359682.2 + 1 427 c.427C>T c.(427-429)Ctt>Ttt p.L143F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 143 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) AATTTGTGGACTTATGGCTAC 0.428000 268 150 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177100651 177100651 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:177100651C>T ENST00000393643.2 + 30 4070 c.3818C>T c.(3817-3819)tCc>tTc p.S1273F WDR17_ENST00000507824.2_Missense_Mutation_p.S1272F|WDR17_ENST00000508596.1_Missense_Mutation_p.S1258F|WDR17_ENST00000280190.4_Missense_Mutation_p.S1297F NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1297 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCTGCTATCTCCTTGAATGAT 0.398000 30 31 0 0 1 0 0 RGS8 85397 broad.mit.edu 37 1 182615997 182615997 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:182615997G>A ENST00000483095.2 - 7 673 c.416C>T c.(415-417)tCc>tTc p.S139F RGS8_ENST00000258302.4_Missense_Mutation_p.S157F|RGS8_ENST00000367557.4_Missense_Mutation_p.S139F|RGS8_ENST00000367556.1_Missense_Mutation_p.S139F P57771 RGS8_HUMAN regulator of G-protein signaling 8 139 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 GCAAGTCAGGGATGGCTCCTG 0.507000 41 223 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2592967 2592967 + Missense_Mutation SNP G G T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:2592967G>T ENST00000358864.1 + 13 1739 c.1724G>T c.(1723-1725)tGg>tTg p.W575L TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 575 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GGTTCTTGCTGGGAGACAGCT 0.498000 11 114 1.61879e-10 1.65053e-10 1 1 0 TTN 7273 broad.mit.edu 37 2 179637853 179637853 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179637853C>T ENST00000589042.1 - 33 8062 c.7838G>A c.(7837-7839)gGa>gAa p.G2613E TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2613E|TTN_ENST00000342175.6_Missense_Mutation_p.G2567E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G2567E|TTN_ENST00000360870.5_Missense_Mutation_p.G2613E|TTN_ENST00000460472.2_Missense_Mutation_p.G2567E|TTN_ENST00000342992.6_Missense_Mutation_p.G2613E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2347 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) AGTAAGTTTTCCAGATGTCAT 0.299000 21 46 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91348402 91348402 + Nonsense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:91348402G>A ENST00000358859.2 - 1 551 c.118C>T c.(118-120)Cga>Tga p.R40* CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 GGGCGCCTTCGATGGCAGGAC 0.667000 7 26 0 0 1 0 0 ORC2 4999 broad.mit.edu 37 2 201798673 201798673 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:201798673C>T ENST00000234296.2 - 10 982 c.733G>A c.(733-735)Gaa>Aaa p.E245K NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 245 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 CTGTGAGCTTCAAAATATTCT 0.343000 12 44 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323206 31323206 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 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 5 65 0 0 1 0 0 MESDC2 23184 broad.mit.edu 37 15 81271619 81271619 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:81271619G>A ENST00000261758.4 - 3 732 c.646C>T c.(646-648)Ctg>Ttg p.L216L NM_015154.1 NP_055969.1 Q14696 MESD_HUMAN mesoderm development candidate 2 216 mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 CGAGATTTCAGATCTCCTTCC 0.498000 16 42 0 0 1 0 0 REG3A 5068 broad.mit.edu 37 2 79384407 79384407 + Nonsense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:79384407C>T ENST00000393878.1 - 5 727 c.473G>A c.(472-474)tGg>tAg p.W158* REG3A_ENST00000305165.2_Nonsense_Mutation_p.W158*|REG3A_ENST00000409839.3_Nonsense_Mutation_p.W158* NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 158 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 ATAATCTTTCCACCTCAGAAA 0.458000 12 39 0 0 1 0 0 FAM98C 147965 broad.mit.edu 37 19 38899451 38899451 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:38899451C>T ENST00000252530.5 + 8 998 c.979C>T c.(979-981)Ccc>Tcc p.P327S FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.P245S NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 327 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCCTCCCATGCCCACCTGGAG 0.577000 39 58 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157188163 157188163 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:157188163C>T ENST00000362010.2 - 3 601 c.294G>A c.(292-294)ggG>ggA p.G98G VEPH1_ENST00000537559.1_Silent_p.G98G|VEPH1_ENST00000543418.1_Silent_p.G98G|VEPH1_ENST00000392833.2_Silent_p.G98G|VEPH1_ENST00000494677.1_Silent_p.G98G|VEPH1_ENST00000468233.1_Silent_p.G98G|VEPH1_ENST00000392832.2_Silent_p.G98G NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 98 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTTCGTCTTTCCCAAAGGGTC 0.458000 42 23 0 0 1 0 0 C12orf4 57102 broad.mit.edu 37 12 4600388 4600388 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:4600388G>A ENST00000261250.3 - 12 1540 c.1453C>T c.(1453-1455)Ccc>Tcc p.P485S C12orf4_ENST00000545746.1_Missense_Mutation_p.P485S NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 485 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) AAGCACCAGGGTATAGTCATT 0.348000 23 71 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150528791 150528791 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:150528791G>A ENST00000271643.4 + 9 1761 c.1525G>A c.(1525-1527)Gga>Aga p.G509R RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.G509R|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G532R|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G509R NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 509 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GATTCCAGCGGGAGCCTTGCG 0.617000 20 127 0 0 1 0 0 PCOLCE 5118 broad.mit.edu 37 7 100204230 100204230 + Missense_Mutation SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:100204230C>A ENST00000223061.5 + 6 1197 c.917C>A c.(916-918)aCa>aAa p.T306K NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 306 multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCGGAGAAAACAGAGGAATCT 0.597000 21 43 1.22574e-08 1.23936e-08 1 1 0 LILRB2 10288 broad.mit.edu 37 19 54783386 54783386 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:54783386C>T ENST00000391748.1 - 5 599 c.472G>A c.(472-474)Gaa>Aaa p.E158K LILRB2_ENST00000391749.4_Missense_Mutation_p.E158K|LILRB2_ENST00000434421.1_Missense_Mutation_p.E42K|LILRB2_ENST00000314446.5_Missense_Mutation_p.E158K|LILRB2_ENST00000391746.1_Missense_Mutation_p.E158K NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 158 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.E158*(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTTCTCCTTCCTTACACAGA 0.622000 50 115 0 0 1 0 0 KIF2A 3796 broad.mit.edu 37 5 61648531 61648531 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:61648531C>T ENST00000381103.2 + 6 876 c.391C>T c.(391-393)Ccc>Tcc p.P131S KIF2A_ENST00000506857.1_Intron|KIF2A_ENST00000401507.3_Missense_Mutation_p.P151S|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.P151S NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 151 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) GGAATTTGGACCCCCTTGTAT 0.388000 5 11 0 0 1 0 0 MTG2 26164 broad.mit.edu 37 20 60775992 60775992 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:60775992G>A ENST00000370823.3 + 7 1098 c.1080G>A c.(1078-1080)cgG>cgA p.R360R MTG2_ENST00000536470.1_Silent_p.R132R|MTG2_ENST00000436421.2_Silent_p.R202R NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 CCCAGCTCCGGGATCACTTGG 0.587000 50 37 0 0 1 0 0 RP11-257K9.8 0 broad.mit.edu 37 6 73919804 73919804 + Splice_Site SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:73919804C>T ENST00000423730.3 - 8 1301 c.e8-1 CTGCTCTGACCTGATTCAGAA 0.473000 5 14 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40318449 40318449 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:40318449G>A ENST00000264661.3 - 10 2038 c.1706C>T c.(1705-1707)tCg>tTg p.S569L KCNH4_ENST00000607371.1_Missense_Mutation_p.S569L NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 569 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GATGTGCAGCGATAGGGCCCG 0.627000 9 36 0 0 1 0 0 TUFM 7284 broad.mit.edu 37 16 28855288 28855288 + Nonsense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:28855288G>A ENST00000313511.3 - 8 1195 c.1057C>T c.(1057-1059)Cag>Tag p.Q353* MIR4721_ENST00000577590.1_RNA NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 350 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 TCCACCTTCTGGTGGGGCTTG 0.662000 17 33 0 0 1 0 0 SEPT5 5413 broad.mit.edu 37 22 19707891 19707891 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:19707891C>T ENST00000438754.2 + 5 718 c.438C>T c.(436-438)ttC>ttT p.F146F SEPT5_ENST00000455784.2_Silent_p.F137F|SEPT5_ENST00000406395.1_Silent_p.F137F|SEPT5_ENST00000383045.3_Silent_p.F146F NM_001009939.2 NP_001009939.1 Q99719 SEPT5_HUMAN septin 5 137 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) AGCAGTACTTCCGTGATGAGA 0.597000 46 51 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137485337 137485337 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:137485337G>A ENST00000254900.5 - 23 3641 c.3270C>T c.(3268-3270)tcC>tcT p.S1090S NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1090 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ACAGCTTTGAGGAGGTAGCAT 0.408000 15 23 0 0 1 0 0 RACGAP1 29127 broad.mit.edu 37 12 50388291 50388291 + Splice_Site SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:50388291C>T ENST00000434422.1 - 12 1347 c.1044_splice c.e12-1 p.G349_splice RACGAP1_ENST00000454520.2_Splice_Site_p.G349_splice|RACGAP1_ENST00000427314.2_Splice_Site_p.G349_splice|RACGAP1_ENST00000551016.1_Splice_Site_p.G349_splice|RACGAP1_ENST00000312377.5_Splice_Site_p.G349_splice|RACGAP1_ENST00000547905.1_Splice_Site_p.G349_splice Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 349 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 TGCCAGCATTCCCTGGAAAAA 0.413000 20 35 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149544996 149544996 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:149544996C>T ENST00000223210.4 + 4 659 c.414C>T c.(412-414)tcC>tcT p.S138S NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 AGCCCCGGTCCATCCAGAAGT 0.557000 10 15 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30666434 30666434 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:30666434G>A ENST00000542965.2 + 7 1599 c.1143G>A c.(1141-1143)cgG>cgA p.R381R PRR14_ENST00000571654.1_Intron|PRR14_ENST00000300835.4_Silent_p.R381R Q9BWN1 PRR14_HUMAN proline rich 14 381 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CCTGTCTCCGGAAAGAGGTCT 0.662000 44 94 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53208331 53208331 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:53208331G>A ENST00000543227.1 - 6 2251 c.1977C>T c.(1975-1977)ttC>ttT p.F659F ZNF611_ENST00000453741.2_Silent_p.F590F|ZNF611_ENST00000319783.1_Silent_p.F659F|ZNF611_ENST00000540744.1_Silent_p.F659F|ZNF611_ENST00000595798.1_Silent_p.F590F|ZNF611_ENST00000602162.1_Silent_p.F590F NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) AATTACGCACGAAAGCCTTGT 0.408000 50 94 0 0 1 0 0 LOC494141 494141 broad.mit.edu 37 11 18231460 18231460 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:18231460G>A ENST00000527059.1 + 1 706 c.246G>A c.(244-246)acG>acA p.T82T RP11-113D6.10_ENST00000340135.3_Silent_p.T82T|RP11-113D6.10_ENST00000534640.1_Silent_p.T82T AGTTGAGAACGGATGGATTTC 0.448000 27 17 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31383818 31383818 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:31383818C>T ENST00000268296.4 + 18 2401 c.2280C>T c.(2278-2280)taC>taT p.Y760Y ITGAX_ENST00000562522.1_Silent_p.Y760Y NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 760 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CTCAGAGATACTTCACGGCCT 0.632000 22 39 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154112301 154112301 + Nonsense_Mutation SNP G G A rs142024728 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:154112301G>A ENST00000368559.3 - 5 765 c.694C>T c.(694-696)Cga>Tga p.R232* NUP210L_ENST00000271854.3_Nonsense_Mutation_p.R232* NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 232 integral to membrane p.R232*(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TCATGAATTCGAACTTTTACA 0.368000 48 327 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123301320 123301320 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:123301320G>A ENST00000296513.2 + 3 281 c.96G>A c.(94-96)acG>acA p.T32T ADAD1_ENST00000388725.2_Silent_p.T14T|ADAD1_ENST00000388724.2_Silent_p.T32T NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 32 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CGACAAAGACGATAACTACAC 0.468000 27 45 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43766122 43766122 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:43766122C>T ENST00000244293.7 - 3 665 c.599G>A c.(598-600)aGg>aAg p.R200K PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.R200K|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.R200K Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 200 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) ATAGAGGGTCCTGTTGGTTTT 0.498000 108 315 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20648726 20648726 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:20648726G>A ENST00000219151.4 - 8 1231 c.21C>T c.(19-21)ttC>ttT p.F7F ACSM1_ENST00000307493.4_Silent_p.F388F|ACSM1_ENST00000520010.1_Silent_p.F388F Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 388 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 CCTTCCCCATGAAACCCGGCT 0.537000 35 79 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22157396 22157396 + Missense_Mutation SNP C C G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:22157396C>G ENST00000397126.4 - 4 588 c.440G>C c.(439-441)cGt>cCt p.R147P ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATATTTGCCACGTTGAAATAC 0.328000 4 86 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138417858 138417858 + Missense_Mutation SNP T T C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:138417858T>C ENST00000477593.1 - 12 1734 c.1661A>G c.(1660-1662)gAa>gGa p.E554G PIK3CB_ENST00000289153.2_Missense_Mutation_p.E554G|PIK3CB_ENST00000544716.1_5'UTR P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 554 PI3K helical. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AAGATCCATTTCATTTTCACA 0.383000 36 62 0 0 1 0 0 CLDN3 1365 broad.mit.edu 37 7 73184019 73184019 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:73184019C>T ENST00000395145.2 - 1 581 c.361G>A c.(361-363)Ggc>Agc p.G121S NM_001306.3 NP_001297.1 O15551 CLD3_HUMAN claudin 3 121 response to hypoxia integral to plasma membrane|tight junction structural molecule activity|transmembrane receptor activity kidney(1)|lung(1) 2 Lung NSC(55;0.159) AACAGCACGCCTGCCACGATG 0.672000 24 25 0 0 1 0 0 CARD16 114769 broad.mit.edu 37 11 104915214 104915214 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:104915214G>A ENST00000375706.2 - 2 196 c.179C>T c.(178-180)tCc>tTc p.S60F CASP1_ENST00000598974.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.S60F|CARD16_ENST00000375704.3_Missense_Mutation_p.S60F NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 CGGAATAACGGAGTCAATCAA 0.448000 88 90 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139180146 139180146 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:139180146G>A ENST00000395297.1 - 12 1420 c.1250C>T c.(1249-1251)cCt>cTt p.P417L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 417 p.P417L(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCTGTCGCAGGGCAGTCCAC 0.507000 HNSCC(54;0.14) 110 59 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7721773 7721773 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:7721773G>A ENST00000572933.1 + 69 11991 c.10531G>A c.(10531-10533)Gaa>Aaa p.E3511K DNAH2_ENST00000389173.2_Missense_Mutation_p.E3511K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3511 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGCTGTTAAAGAACAGGTGGG 0.502000 53 176 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75964575 75964575 + Missense_Mutation SNP A A C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:75964575A>C ENST00000274364.6 + 23 3046 c.2749A>C c.(2749-2751)Act>Cct p.T917P IQGAP2_ENST00000502745.1_Missense_Mutation_p.T413P|IQGAP2_ENST00000379730.3_Missense_Mutation_p.T419P|IQGAP2_ENST00000396234.3_Missense_Mutation_p.T413P NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 917 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ATTTATGGATACTGTTATTTT 0.338000 8 23 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36369813 36369813 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:36369813G>A ENST00000221891.4 + 15 1864 c.1672G>A c.(1672-1674)Ggt>Agt p.G558S APLP1_ENST00000537454.2_Missense_Mutation_p.G518S|APLP1_ENST00000586861.1_Missense_Mutation_p.G551S NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 557 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGTTCCAAGGGGTTTCCCTTT 0.602000 52 71 0 0 1 0 0 CYP2U1 113612 broad.mit.edu 37 4 108866315 108866315 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:108866315C>T ENST00000332884.6 + 2 955 c.680C>T c.(679-681)gCc>gTc p.A227V CYP2U1_ENST00000508453.1_Missense_Mutation_p.A18V|RP11-286E11.1_ENST00000513071.1_RNA NM_183075.2 NP_898898.1 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, polypeptide 1 227 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) ATCAGCAATGCCGTCTCTAAC 0.438000 19 97 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304459 10304459 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:10304459C>T ENST00000403437.2 - 25 3252 c.3158G>A c.(3157-3159)aGa>aAa p.R1053K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1053 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 CCGCTTTGCTCTTTCTAGATC 0.348000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 17 53 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16032718 16032718 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:16032718G>A ENST00000350896.3 - 3 392 c.195C>T c.(193-195)atC>atT p.I65I MSR1_ENST00000381998.4_Silent_p.I65I|MSR1_ENST00000262101.5_Silent_p.I65I|MSR1_ENST00000355282.2_Silent_p.I65I|MSR1_ENST00000445506.2_Silent_p.I83I|MSR1_ENST00000536385.1_Intron NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 65 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CAATGAGAGGGATGAGAACTG 0.408000 13 42 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79077849 79077849 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:79077849C>T ENST00000321300.6 + 9 1100 c.1007C>T c.(1006-1008)tCc>tTc p.S336F BAIAP2_ENST00000575245.1_Missense_Mutation_p.S369F|BAIAP2_ENST00000321280.7_Missense_Mutation_p.S336F|BAIAP2_ENST00000392411.3_Missense_Mutation_p.S258F|BAIAP2_ENST00000435091.3_Missense_Mutation_p.S336F|BAIAP2_ENST00000428708.2_Missense_Mutation_p.S336F|BAIAP2_ENST00000575712.1_Missense_Mutation_p.S336F|BAIAP2_ENST00000416299.2_Missense_Mutation_p.S199F NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 336 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CTCAGCGACTCCTACTCCAAC 0.637000 21 77 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85446650 85446650 + Missense_Mutation SNP G G A rs149453199 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:85446650G>A ENST00000369663.5 - 8 1914 c.1577C>T c.(1576-1578)cCc>cTc p.P526L TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 526 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TAGTGCACAGGGGCTGTGTAA 0.493000 35 148 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73800220 73800220 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:73800220C>T ENST00000264448.6 + 16 11324 c.11213C>T c.(11212-11214)cCc>cTc p.P3738L ALMS1_ENST00000409009.1_Missense_Mutation_p.P3696L NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3738 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GATTGTCGGCCCTCAGAGGAG 0.378000 28 40 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42204018 42204018 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:42204018G>A ENST00000541110.1 - 16 3619 c.3051C>T c.(3049-3051)ccC>ccT p.P1017P TRERF1_ENST00000354325.2_Silent_p.P914P|TRERF1_ENST00000372917.4_Silent_p.P914P|TRERF1_ENST00000340840.2_Silent_p.P914P|TRERF1_ENST00000372922.4_Silent_p.P997P Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 997 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCCCTCCGTGGGAGCCAGGA 0.627000 10 21 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57065806 57065806 + Missense_Mutation SNP A A G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:57065806A>G ENST00000301318.3 + 8 1723 c.1652A>G c.(1651-1653)cAt>cGt p.H551R AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) CTTACTGTACATCAAAGGATT 0.393000 11 59 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48456644 48456644 + Missense_Mutation SNP T T A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:48456644T>A ENST00000358536.4 - 20 4176 c.3907A>T c.(3907-3909)Agg>Tgg p.R1303W PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1120W|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1120W|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1303W NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1303 IPT/TIG 3.|Poly-Arg. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACGCGACGCCTCCGTCCAAGC 0.637000 8 62 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133844271 133844271 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:133844271G>A ENST00000367895.5 + 18 2158 c.1694G>A c.(1693-1695)gGa>gAa p.G565E EYA4_ENST00000525849.1_Missense_Mutation_p.G542E|EYA4_ENST00000452339.2_Missense_Mutation_p.G511E|EYA4_ENST00000430974.2_Missense_Mutation_p.G517E|EYA4_ENST00000531901.1_Missense_Mutation_p.G571E|EYA4_ENST00000355286.6_Missense_Mutation_p.G542E|EYA4_ENST00000431403.2_Missense_Mutation_p.G565E|EYA4_ENST00000355167.3_Missense_Mutation_p.G565E|RP3-323P13.2_ENST00000607033.1_RNA NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 565 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TATAGTTTAGGAGGTGCTTTC 0.383000 21 35 0 0 1 0 0 FAM53A 152877 broad.mit.edu 37 4 1656958 1656958 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:1656958G>A ENST00000308132.6 - 4 821 c.629C>T c.(628-630)tCc>tTc p.S210F FAM53A_ENST00000489363.1_Missense_Mutation_p.S210F|FAM53A_ENST00000461064.1_Missense_Mutation_p.S210F|FAM53A_ENST00000472884.2_Missense_Mutation_p.S210F NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 210 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) GGACTCCGCGGAACACCAGAG 0.761000 3 10 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55992908 55992908 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:55992908C>T ENST00000598519.1 + 3 901 c.348C>T c.(346-348)ggC>ggT p.G116G ZNF628_ENST00000391718.2_Silent_p.G112G NM_033113.2 NP_149104.3 Q5EBL2 ZN628_HUMAN zinc finger protein 628 112 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) TGCACACCGGCCTGCGGGCCT 0.667000 5 34 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8331706 8331706 + Nonsense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:8331706G>A ENST00000381196.4 - 41 5953 c.5410C>T c.(5410-5412)Cag>Tag p.Q1804* PTPRD_ENST00000397611.3_Nonsense_Mutation_p.Q1394*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.Q1397*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q1804*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q1791*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.Q1394*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q1782*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.Q1397*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q1804*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.Q1398*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.Q1397* NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1804 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCAGTGAACTGGAACTGCCTT 0.512000 TSP Lung(15;0.13) 44 28 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3614067 3614067 + RNA SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:3614067C>T ENST00000301749.7 - 0 1276 NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATCTCCTCCTCGTTAAAGCCC 0.607000 32 56 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642767 57642767 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:57642767C>T ENST00000254181.4 + 4 3178 c.2724C>T c.(2722-2724)atC>atT p.I908I USP29_ENST00000598197.1_Silent_p.I908I NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 908 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGGGGTGATCCCTCAGGGGG 0.473000 31 65 0 0 1 0 0 MIER2 54531 broad.mit.edu 37 19 327884 327884 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:327884G>A ENST00000264819.4 - 4 359 c.349C>T c.(349-351)Cca>Tca p.P117S MIER2_ENST00000592722.1_5'UTR NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) 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) GTCATGTCTGGGAGGTTCGGG 0.617000 12 25 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69552686 69552686 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:69552686C>T ENST00000337103.4 + 7 2440 c.848C>T c.(847-849)cCt>cTt p.P283L C8orf34_ENST00000325233.3_Missense_Mutation_p.P52L|C8orf34_ENST00000539993.1_Missense_Mutation_p.P308L|C8orf34_ENST00000518698.1_Missense_Mutation_p.P394L Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 308 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAAGGCCGTCCTACTTACCCT 0.413000 7 67 0 0 1 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23049444 23049444 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:23049444C>T ENST00000221132.3 - 10 1234 c.1170G>A c.(1168-1170)acG>acA p.T390T NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 390 Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCTCATTTTTCGTGAGGTCCA 0.522000 29 40 0 0 1 0 0 KLK9 284366 broad.mit.edu 37 19 51507069 51507069 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:51507069G>A ENST00000250366.6 - 4 527 c.494C>T c.(493-495)gCc>gTc p.A165V KLK9_ENST00000594211.1_Missense_Mutation_p.A165V|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Missense_Mutation_p.A165V NM_012315.1 NP_036447.1 Q9UKQ9 KLK9_HUMAN kallikrein-related peptidase 9 165 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) GCTGATGTTGGCACACTGCAG 0.577000 34 32 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100257910 100257910 + RNA SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:100257910C>T ENST00000515683.1 - 0 1478 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TGTATTGTTTCAAAACGTCAG 0.418000 18 20 0 0 1 0 0 MVB12A 93343 broad.mit.edu 37 19 17533153 17533153 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:17533153C>T ENST00000317040.7 + 4 1354 c.299C>T c.(298-300)tCc>tTc p.S100F MVB12A_ENST00000543795.1_Missense_Mutation_p.S100F|MVB12A_ENST00000529939.1_Missense_Mutation_p.S100F|MVB12A_ENST00000392702.2_Missense_Mutation_p.S100F|MVB12A_ENST00000528515.1_Intron multivesicular body subunit 12A GCCTCTGTGTCCAAGAAGAAA 0.607000 32 50 0 0 1 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259856 71259856 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:71259856C>T ENST00000528743.2 + 1 391 c.153C>T c.(151-153)gcC>gcT p.A51A NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 51 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 GTGTTCCAGCCTGTTCCTGCT 0.647000 131 94 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159457437 159457437 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:159457437G>A ENST00000367066.3 - 10 1949 c.1618C>T c.(1618-1620)Ccg>Tcg p.P540S RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.P362S|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 540 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ACACCCCTCGGGACGTGGTCC 0.562000 36 43 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177905472 177905472 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:177905472G>A ENST00000308284.6 - 20 2621 c.2532C>T c.(2530-2532)tcC>tcT p.S844S RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 844 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CAGGAGGCTGGGAAGTTTCTT 0.458000 3 17 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39577166 39577166 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:39577166C>T ENST00000225550.3 - 7 1313 c.1314G>A c.(1312-1314)ggG>ggA p.G438G AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 438 Tail. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CAGAGGGAGACCCACCGGTGA 0.577000 9 31 0 0 1 0 0 PAQR3 152559 broad.mit.edu 37 4 79841703 79841703 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:79841703G>A ENST00000512733.1 - 6 1139 c.926C>T c.(925-927)tCa>tTa p.S309L PAQR3_ENST00000515541.1_Intron|PAQR3_ENST00000295462.3_3'UTR NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 309 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 TCACAAATGTGAAACATAGTC 0.383000 4 81 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121384959 121384959 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:121384959G>A ENST00000260197.7 + 8 1269 c.1140G>A c.(1138-1140)ctG>ctA p.L380L SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 380 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CAGAGGGGCTGAAGTTCTCCC 0.537000 28 17 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112969738 112969738 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:112969738C>T ENST00000485230.1 + 4 1059 c.434C>T c.(433-435)cCt>cTt p.P145L BOC_ENST00000355385.3_Intron|BOC_ENST00000484034.1_Missense_Mutation_p.P145L|BOC_ENST00000495514.1_Intron|BOC_ENST00000273395.4_Intron Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 0 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CTCTCCCACCCTGAAGCCCCC 0.557000 4 13 0 0 1 0 0 IGLV1-47 28822 broad.mit.edu 37 22 22712403 22712403 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:22712403G>A ENST00000390294.2 + 0 202 TCCAACATCGGAAGTAATTAT 0.577000 179 141 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72943535 72943535 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:72943535G>A ENST00000328801.4 + 6 1585 c.1585G>A c.(1585-1587)Gag>Aag p.E529K NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 529 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) GGCACTCAAGGAGATCTCACT 0.607000 17 38 0 0 1 0 0 BDKRB1 623 broad.mit.edu 37 14 96730546 96730546 + Missense_Mutation SNP G G A rs145002930 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:96730546G>A ENST00000216629.6 + 3 1133 c.527G>A c.(526-528)cGa>cAa p.R176Q BDKRB1_ENST00000553356.1_Missense_Mutation_p.R176Q|RP11-404P21.3_ENST00000553638.1_RNA NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 176 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TTCCTGCTGCGATCCATCCAA 0.612000 19 47 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38939031 38939031 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:38939031C>T ENST00000355481.4 + 10 968 c.837C>T c.(835-837)ctC>ctT p.L279L RYR1_ENST00000360985.3_Silent_p.L279L|RYR1_ENST00000359596.3_Silent_p.L279L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 279 MIR 4. 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) GCCAGCCACTCCGAGTCCGGC 0.642000 41 123 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36369836 36369836 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:36369836G>A ENST00000221891.4 + 15 1887 c.1695G>A c.(1693-1695)gaG>gaA p.E565E APLP1_ENST00000537454.2_Silent_p.E525E|APLP1_ENST00000586861.1_Silent_p.E558E NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 564 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACTCATCGGAGATTCAGAGGG 0.582000 21 83 0 0 1 0 0 GATSL3 652968 broad.mit.edu 37 22 30681833 30681833 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:30681833G>A ENST00000407689.3 - 8 1038 c.909C>T c.(907-909)ttC>ttT p.F303F RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_Intron|GATSL3_ENST00000404953.3_Silent_p.F265F NM_001037666.2 NP_001032755.1 GATS protein-like 3 breast(1)|endometrium(1)|lung(1) 3 GGGCGTGGTCGAAGTTGAAGG 0.607000 10 12 0 0 1 0 0 GCSAML 148823 broad.mit.edu 37 1 247712498 247712498 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:247712498G>A ENST00000366491.2 + 4 502 c.5G>A c.(4-6)gGa>gAa p.G2E GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000536561.1_Missense_Mutation_p.G2E|GCSAML_ENST00000366489.1_Missense_Mutation_p.G2E|GCSAML_ENST00000366488.4_Missense_Mutation_p.G2E|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.E123K germinal center-associated, signaling and motility-like GAAAAGATGGGAAATTATCTC 0.483000 17 96 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074858 9074858 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9074858C>T ENST00000397910.4 - 3 12791 c.12588G>A c.(12586-12588)gaG>gaA p.E4196E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4198 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 GGCCAGAGGTCTCAGACAAGA 0.498000 18 33 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37770712 37770712 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:37770712G>A ENST00000402918.1 - 3 1648 c.863C>T c.(862-864)tCg>tTg p.S288L RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.S288L NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 288 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CGTGGTGGACGAGGCCGGCGG 0.662000 47 177 0 0 1 0 0 MIR411 693121 broad.mit.edu 37 14 101489752 101489752 + RNA SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:101489752C>T ENST00000362239.2 + 0 91 NR_030389.1 CAAATCCATCCCCGAGGCTCC 0.502000 5 23 0 0 1 0 0 SBSPON 157869 broad.mit.edu 37 8 73979628 73979628 + Missense_Mutation SNP C C T rs149127771 by1000genomes TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:73979628C>T ENST00000297354.6 - 5 947 c.743G>A c.(742-744)cGg>cAg p.R248Q SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 248 immune response extracellular region polysaccharide binding|scavenger receptor activity GTCTACTCGCCGAACTTTTTT 0.343000 6 79 0 0 1 0 0 IFNA16 3449 broad.mit.edu 37 9 21217208 21217208 + Missense_Mutation SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:21217208C>A ENST00000380216.1 - 1 102 c.97G>T c.(97-99)Ggt>Tgt p.G33C NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 33 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.G33C(1) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CTCCTATTACCCAGGCTGTGA 0.512000 33 141 3.67414e-24 3.78327e-24 1 1 0 SFTA3 253970 broad.mit.edu 37 14 36946289 36946289 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:36946289C>T ENST00000518529.2 - 3 823 c.148G>A c.(148-150)Gaa>Aaa p.E50K SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA NM_001101341.1 NP_001094811.1 P0C7M3 SFTA3_HUMAN surfactant associated 3 50 breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 ATCCGCTTTTCCCTCTCCCTC 0.522000 30 43 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164518 139164518 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:139164518C>T ENST00000395297.1 - 13 2370 c.2200G>A c.(2200-2202)Gaa>Aaa p.E734K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 734 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTGTTACTTTCTGTGTGTCCA 0.542000 HNSCC(54;0.14) 13 66 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179516620 179516620 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179516620G>A ENST00000589042.1 - 205 39594 c.39370C>T c.(39370-39372)Cct>Tct p.P13124S TTN_ENST00000591111.1_Missense_Mutation_p.P11617S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10690S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11477 Ig-like 87. 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) CCTTGTGGAGGCGCCGCTGGC 0.512000 4 8 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7793966 7793966 + Silent SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:7793966C>A ENST00000380358.4 + 3 469 c.468C>A c.(466-468)acC>acA p.T156T CHD3_ENST00000570758.1_3'UTR|CHD3_ENST00000330494.7_Silent_p.T97T|CHD3_ENST00000358181.4_Silent_p.T97T NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 97 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) AATATGGAACCGGACCGGGTC 0.493000 8 8 1.12685e-05 1.13464e-05 1 1 0 LAMA3 3909 broad.mit.edu 37 18 21338406 21338406 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:21338406C>T ENST00000313654.9 + 7 1235 c.994C>T c.(994-996)Cgc>Tgc p.R332C LAMA3_ENST00000399516.3_Missense_Mutation_p.R332C NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 332 Domain V.|Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACGTGTGATCGCTGCTGCAC 0.597000 3 30 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66725159 66725159 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:66725159C>T ENST00000247815.4 + 12 2955 c.2896C>T c.(2896-2898)Ccg>Tcg p.P966S NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 966 P -> L (in dbSNP:rs1185244). DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AGCAGATTTTCCGTCCCCACG 0.502000 32 44 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36218285 36218285 + Silent SNP A A G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:36218285A>G ENST00000396594.3 - 11 2032 c.1921T>C c.(1921-1923)Ttg>Ctg p.L641L GNE_ENST00000539208.1_Silent_p.L500L|GNE_ENST00000447283.2_Silent_p.L536L|GNE_ENST00000377902.5_Silent_p.L610L|GNE_ENST00000539815.1_Silent_p.L610L|GNE_ENST00000543356.2_Silent_p.L605L NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 610 N-acetylmannosamine kinase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) CCTTCCACCAAGAGCAGGTCC 0.547000 22 72 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 95022258 95022258 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:95022258C>T ENST00000357742.4 + 22 2632 c.2632C>T c.(2632-2634)Ctc>Ttc p.L878F MCTP2_ENST00000451018.3_Missense_Mutation_p.L823F|MCTP2_ENST00000449432.3_3'UTR NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 878 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GCGCAGCGCTCTCTAGGGCAC 0.517000 12 29 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158502225 158502225 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:158502225C>T ENST00000355585.4 + 19 2727 c.2652C>T c.(2650-2652)ttC>ttT p.F884F SYNJ2_ENST00000367122.2_Silent_p.F884F|SYNJ2_ENST00000367112.1_5'UTR|SYNJ2_ENST00000367121.3_Silent_p.F884F NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 884 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TGTCCTCCTTCCAGGGCCCCC 0.532000 37 57 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48490895 48490895 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:48490895C>T ENST00000273861.4 + 3 1472 c.1253C>T c.(1252-1254)tCc>tTc p.S418F NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 418 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 GCAGACACTTCCTATGGCACA 0.363000 27 31 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686266 108686266 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:108686266C>T ENST00000397688.2 - 3 837 c.468G>A c.(466-468)atG>atA p.M156I CMKLR1_ENST00000552995.1_Missense_Mutation_p.M156I|CMKLR1_ENST00000550402.1_Missense_Mutation_p.M158I|CMKLR1_ENST00000412676.1_Missense_Mutation_p.M158I|CMKLR1_ENST00000312143.7_Missense_Mutation_p.M158I NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 158 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 CCATGCAGGCCATGTAAGCCA 0.567000 24 72 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34640796 34640796 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:34640796C>T ENST00000537011.1 + 3 1109 c.727C>T c.(727-729)Cgt>Tgt p.R243C NUTM1_ENST00000438749.3_Missense_Mutation_p.R233C|NUTM1_ENST00000333756.4_Missense_Mutation_p.R215C NUT midline carcinoma, family member 1 TGAGAACTTCCGTCAGTGGCA 0.542000 24 71 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44762800 44762800 + Missense_Mutation SNP T T G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:44762800T>G ENST00000296091.4 + 4 747 c.491T>G c.(490-492)tTt>tGt p.F164C ZNF502_ENST00000449836.1_Missense_Mutation_p.F164C|ZNF502_ENST00000436624.2_Missense_Mutation_p.F164C NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) GGAAAAACCTTTACTCAGAGC 0.388000 14 131 0 0 1 0 0 TBX1 6899 broad.mit.edu 37 22 19753283 19753283 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:19753283C>T ENST00000332710.4 + 7 972 c.843C>T c.(841-843)atC>atT p.I281I TBX1_ENST00000329705.7_Silent_p.I281I|TBX1_ENST00000359500.3_Silent_p.I281I NM_080647.1 NP_542378.1 O43435 TBX1_HUMAN T-box 1 281 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) CCCTGCAGATCACGCAGCTCA 0.647000 23 21 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19483591 19483591 + Silent SNP G G T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:19483591G>T ENST00000507958.1 - 14 2691 c.1701C>A c.(1699-1701)ccC>ccA p.P567P CDH18_ENST00000502796.1_Intron|CDH18_ENST00000382275.1_Silent_p.P567P|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000274170.4_Silent_p.P567P Q13634 CAD18_HUMAN cadherin 18, type 2 567 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGATCATAATGGGCAGATAAT 0.488000 9 40 2.74318e-10 2.79306e-10 1 1 0 RNASET2 8635 broad.mit.edu 37 6 167343184 167343184 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:167343184G>A ENST00000366855.6 - 10 1224 c.549C>T c.(547-549)tcC>tcT p.S183S RNASET2_ENST00000508775.1_Silent_p.S221S|RNASET2_ENST00000476238.2_Silent_p.S221S|RP11-514O12.4_ENST00000507747.1_Intron O00584 RNT2_HUMAN ribonuclease T2 221 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) CCTGCTTGGGGGACGGCTGCT 0.562000 110 151 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66430760 66430760 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:66430760G>A ENST00000383703.3 - 20 3743 c.3140C>T c.(3139-3141)cCc>cTc p.P1047L LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.P1070L Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 1070 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CGTGGACTCGGGACTGGCGTC 0.552000 17 116 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219875560 219875560 + Nonsense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:219875560C>T ENST00000341552.5 - 25 4199 c.4116G>A c.(4114-4116)tgG>tgA p.W1372* AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Nonsense_Mutation_p.W1372*|CCDC108_ENST00000441968.1_Nonsense_Mutation_p.W1372* NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1372 integral to membrane structural molecule activity p.W1372C(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGAGAAGATCCACAAGACCC 0.567000 12 16 0 0 1 0 0 ARF5 381 broad.mit.edu 37 7 127229594 127229594 + Silent SNP G G T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:127229594G>T ENST00000000233.5 + 3 358 c.204G>T c.(202-204)gtG>gtT p.V68V GCC1_ENST00000497650.1_Intron|ARF5_ENST00000467281.1_3'UTR NM_001662.3 NP_001653.1 P84085 ARF5_HUMAN ADP-ribosylation factor 5 68 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding cervix(2)|kidney(1)|lung(10)|ovary(1) 14 TCTGGGACGTGGGAGGCCAGG 0.468000 46 79 4.06502e-11 4.15054e-11 1 1 0 PTGS2 5743 broad.mit.edu 37 1 186647512 186647512 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:186647512G>A ENST00000367468.5 - 4 474 c.338C>T c.(337-339)cCa>cTa p.P113L PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 113 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GTAAGTTGGTGGACTGTCAAT 0.358000 29 23 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849972 73849972 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:73849972C>T ENST00000523207.1 + 3 2970 c.2382C>T c.(2380-2382)ttC>ttT p.F794F NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 794 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) AGAAACTGTTCCCTTTCTCTT 0.557000 16 81 0 0 1 0 0 ALPL 249 broad.mit.edu 37 1 21887684 21887684 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:21887684C>T ENST00000374840.3 + 4 526 c.276C>T c.(274-276)ttC>ttT p.F92F ALPL_ENST00000374832.1_Silent_p.F92F|ALPL_ENST00000425315.2_Silent_p.F92F|ALPL_ENST00000540617.1_Silent_p.F37F|ALPL_ENST00000539907.1_Intron|ALPL_ENST00000468526.1_3'UTR NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 92 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) TGGACAAGTTCCCCTTCGTGG 0.597000 5 13 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 69056765 69056765 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:69056765C>T ENST00000261778.1 + 16 2889 c.2877C>T c.(2875-2877)atC>atT p.I959I NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) AACCTTTGATCCATACCTTCC 0.468000 4 6 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55569009 55569009 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:55569009C>T ENST00000395445.1 - 36 5195 c.4801G>A c.(4801-4803)Gaa>Aaa p.E1601K PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.E797K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.E535K|PCDH15_ENST00000395442.1_Missense_Mutation_p.E466K NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTGGAGGATTCCTCCTCTGAT 0.453000 HNSCC(58;0.16) 13 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068007 9068007 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9068007C>T ENST00000397910.4 - 3 19642 c.19439G>A c.(19438-19440)gGa>gAa p.G6480E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6482 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 TTGTGAAAATCCATGAGTCAT 0.493000 43 68 0 0 1 0 0 SEPT4 5414 broad.mit.edu 37 17 56598703 56598703 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:56598703G>A ENST00000457347.2 - 10 1215 c.1071C>T c.(1069-1071)atC>atT p.I357I SEPT4_ENST00000317268.3_Silent_p.I342I|SEPT4_ENST00000579371.1_Silent_p.I243I|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000580844.1_Silent_p.I243I|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Silent_p.I334I|SEPT4_ENST00000393086.1_Silent_p.I323I|SEPT4_ENST00000317256.6_Silent_p.I323I|SEPT4_ENST00000583114.1_Silent_p.I195I NM_001256782.1 NP_001243711.1 O43236 SEPT4_HUMAN septin 4 342 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCAAATGGGATGCTTTCCT 0.532000 OREG0024614 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 59 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 101847169 101847169 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:101847169C>T ENST00000369138.1 + 1 506 c.16C>T c.(16-18)Ccg>Tcg p.P6S GRIK2_ENST00000413795.1_Missense_Mutation_p.P6S|GRIK2_ENST00000421544.1_Missense_Mutation_p.P6S|GRIK2_ENST00000369137.3_Missense_Mutation_p.P6S|GRIK2_ENST00000318991.6_Missense_Mutation_p.P6S|GRIK2_ENST00000358361.3_Missense_Mutation_p.P6S NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 6 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GATTATTTTCCCGATTCTAAG 0.488000 32 40 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53741668 53741668 + Silent SNP A A C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:53741668A>C ENST00000333952.4 - 5 477 c.312T>G c.(310-312)ccT>ccG p.P104P ZNF677_ENST00000598513.1_Silent_p.P104P Q86XU0 ZN677_HUMAN zinc finger protein 677 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TGTCAAACTTAGGCATATTTT 0.343000 24 47 0 0 1 0 0 VSIG10 54621 broad.mit.edu 37 12 118511787 118511787 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:118511787G>A ENST00000359236.5 - 5 1212 c.936C>T c.(934-936)tcC>tcT p.S312S NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 312 Ig-like C2-type 4. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 CAGAGAGAAGGGAGGGACCCC 0.502000 14 44 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118981581 118981581 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:118981581C>T ENST00000336702.3 + 4 954 c.595C>T c.(595-597)Cct>Tct p.P199S NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 199 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 GGAGGAAATCCCTGGTGAGGG 0.552000 70 87 0 0 1 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86916059 86916059 + Missense_Mutation SNP C C T rs149783359 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:86916059C>T ENST00000395184.1 + 9 1718 c.1252C>T c.(1252-1254)Ctc>Ttc p.L418F ARHGAP24_ENST00000395183.2_Missense_Mutation_p.L323F|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.L325F NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 418 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AAGCCCCCCTCTCATGGTCAA 0.473000 77 146 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134618203 134618203 + Missense_Mutation SNP T T C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:134618203T>C ENST00000361675.2 + 5 912 c.683T>C c.(682-684)tTa>tCa p.L228S CALD1_ENST00000361388.2_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000495522.1_Intron Q05682 CALD1_HUMAN caldesmon 1 228 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 GTAATGTCATTAAAAAATGGG 0.448000 22 37 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538458 55538458 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:55538458G>A ENST00000220676.1 + 4 2164 c.2016G>A c.(2014-2016)aaG>aaA p.K672K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 672 Poly-Lys. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCAGCAAAAAGAAGAAAAAAT 0.333000 26 30 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41545984 41545984 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:41545984C>T ENST00000263253.7 + 14 3818 c.2599C>T c.(2599-2601)Cct>Tct p.P867S NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 867 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TCCTACACCTCCTGCCATGCC 0.592000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 17 88 0 0 1 0 0 METTL16 79066 broad.mit.edu 37 17 2381162 2381162 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:2381162G>A ENST00000263092.5 - 3 273 c.146C>T c.(145-147)cCc>cTc p.P49L METTL16_ENST00000538844.1_5'UTR|METTL16_ENST00000571669.1_5'UTR NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 49 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 GACTGCTTCGGGGTCTTTAAA 0.403000 14 82 0 0 1 0 0 CBFA2T3 863 broad.mit.edu 37 16 88968026 88968026 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:88968026C>T ENST00000268679.4 - 2 586 c.190G>A c.(190-192)Gac>Aac p.D64N CBFA2T3_ENST00000360302.2_Missense_Mutation_p.D3N|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.D3N|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.D64N|CBFA2T3_ENST00000448839.1_Intron NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 64 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GCTGGGGAGTCCGGCATCGCT 0.682000 T RUNX1 AML 18 49 0 0 1 0 0 DYX1C1 161582 broad.mit.edu 37 15 55722941 55722941 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:55722941G>A ENST00000321149.3 - 10 1557 c.1190C>T c.(1189-1191)cCa>cTa p.P397L DYX1C1_ENST00000448430.2_Intron|DYX1C1_ENST00000348518.3_Missense_Mutation_p.H362Y|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Intron|DYX1C1_ENST00000457155.2_Missense_Mutation_p.H362Y NM_130810.3 NP_570722.2 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 397 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) TTTGTTGGATGGATCAATCTT 0.299000 16 40 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16251661 16251661 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:16251661G>A ENST00000205557.7 - 27 3770 c.3741C>T c.(3739-3741)ccC>ccT p.P1247P NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1247 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GCAGCCTCCAGGGAGCCTGGA 0.597000 19 30 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49579070 49579070 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:49579070G>A ENST00000301071.7 - 4 1423 c.1079C>T c.(1078-1080)cCc>cTc p.P360L TUBA1A_ENST00000295766.5_Missense_Mutation_p.P360L|TUBA1A_ENST00000550767.1_Missense_Mutation_p.P325L NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 360 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 CACCACAGTGGGAGGCTGGTA 0.577000 26 24 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131418768 131418768 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:131418768C>T ENST00000512055.1 - 8 2543 c.417G>A c.(415-417)ggG>ggA p.G139G CPNE4_ENST00000502818.1_Silent_p.G157G|CPNE4_ENST00000512332.1_Silent_p.G157G|CPNE4_ENST00000511604.1_Silent_p.G139G|CPNE4_ENST00000429747.1_Silent_p.G139G Q96A23 CPNE4_HUMAN copine IV 139 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TGGAAGATTTCCCTGCTGTGT 0.502000 17 18 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142750298 142750298 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:142750298C>T ENST00000418316.1 + 1 882 c.861C>T c.(859-861)atC>atT p.I287I NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 287 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) ATCCCTTTATCCTTACCTTCT 0.522000 34 47 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153665857 153665857 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:153665857C>T ENST00000368680.3 + 22 3625 c.3153C>T c.(3151-3153)ctC>ctT p.L1051L NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 1051 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CCTACTGGCTCCTTGGGGAGA 0.612000 106 70 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47538834 47538834 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:47538834C>T ENST00000273859.3 + 9 1544 c.1275C>T c.(1273-1275)atC>atT p.I425I ATP10D_ENST00000504445.1_Silent_p.I410I NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 425 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CCCTGAACATCGCCGAGGATC 0.408000 5 16 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 79639029 79639029 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:79639029C>T ENST00000464233.1 - 2 146 c.33G>A c.(31-33)atG>atA p.M11I NM_002941.3 NP_002932.1 Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 11 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGAGTGATATCATGACCAAAA 0.408000 63 58 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220309595 220309595 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:220309595C>T ENST00000312358.7 + 3 659 c.527C>T c.(526-528)tCc>tTc p.S176F SPEG_ENST00000396698.1_Missense_Mutation_p.S72F|SPEG_ENST00000396695.2_5'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 176 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCCCGACCTCCGTGACAGGC 0.672000 30 114 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458237 248458237 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248458237G>A ENST00000317996.1 - 1 643 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GAGACCATAGGAGGACAGGAT 0.537000 81 55 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25674775 25674775 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:25674775C>T ENST00000382051.3 + 10 1165 c.1115C>T c.(1114-1116)tCc>tTc p.S372F SLC34A2_ENST00000504570.1_Missense_Mutation_p.S371F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.S371F NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 372 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CTCATACTCTCCCTGCTGGTC 0.517000 T ROS1 NSCLC 10 85 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115614259 115614259 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:115614259C>T ENST00000265440.7 - 3 412 c.232G>A c.(232-234)Gaa>Aaa p.E78K TFEC_ENST00000484212.1_Missense_Mutation_p.E168K|TFEC_ENST00000393485.1_Intron|TFEC_ENST00000320239.7_Intron NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 78 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) TCTGCTCCTTCCTCTTTAAAA 0.328000 19 32 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94156489 94156489 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:94156489C>T ENST00000553484.1 + 47 7449 c.7295C>T c.(7294-7296)tCc>tTc p.S2432F UNC79_ENST00000393151.2_Missense_Mutation_p.S2410F|UNC79_ENST00000256339.4_Missense_Mutation_p.S2233F|UNC79_ENST00000555664.1_Missense_Mutation_p.S2371F Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2410 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GAGTGTGTCTCCCATATCCGA 0.453000 27 48 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40370239 40370239 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:40370239G>A ENST00000293328.3 - 9 1267 c.1099C>T c.(1099-1101)Ccc>Tcc p.P367S NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 367 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TTCACCTGGGGGGGGTTCATG 0.577000 14 45 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18616669 18616669 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:18616669C>T ENST00000379989.3 + 12 1198 c.913C>T c.(913-915)Cgt>Tgt p.R305C CDKL5_ENST00000379996.3_Missense_Mutation_p.R305C NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 305 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) ACTTCTGGATCGTTCTCCTTC 0.388000 15 50 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78831722 78831722 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:78831722C>T ENST00000537330.1 + 12 2259 c.976C>T c.(976-978)Ccc>Tcc p.P326S RPTOR_ENST00000575542.1_Intron|RPTOR_ENST00000306801.3_Intron|RPTOR_ENST00000544334.2_Intron Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 0 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 CGCCCTCCTCCCCAGAGTGAT 0.647000 14 15 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114469560 114469560 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:114469560G>A ENST00000513154.1 - 8 1821 c.1495C>T c.(1495-1497)Cca>Tca p.P499S TRIM36_ENST00000282369.3_Missense_Mutation_p.P511S|TRIM36_ENST00000514154.1_Missense_Mutation_p.P356S Q9NQ86 TRI36_HUMAN tripartite motif containing 36 511 Fibronectin type-III. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) ACCATACCTGGAGCTGGAGGA 0.393000 4 29 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17669558 17669558 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:17669558C>T ENST00000262077.2 - 7 979 c.980G>A c.(979-981)aGa>aAa p.R327K NUP153_ENST00000537253.1_Missense_Mutation_p.R327K NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 327 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding p.R327I(1) NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GGATGGAATTCTTTTTGCATC 0.279000 37 57 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136570323 136570323 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:136570323C>T ENST00000264162.2 - 7 1921 c.1911G>A c.(1909-1911)gtG>gtA p.V637V NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 637 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AGTCTCCATCCACAAAGACGG 0.582000 31 100 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22324726 22324726 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:22324726G>A ENST00000398793.2 - 6 871 c.437C>T c.(436-438)aCc>aTc p.T146I TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Missense_Mutation_p.T146I NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 146 Toprim. DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) CCGGAACACGGTCTTCTCGCC 0.607000 29 30 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49444089 49444089 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:49444089G>A ENST00000301067.7 - 11 3281 c.3282C>T c.(3280-3282)ctC>ctT p.L1094L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTGGGGAAGGGAGAGGACTGG 0.612000 9 16 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71114747 71114747 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:71114747G>A ENST00000304954.3 + 4 206 c.120G>A c.(118-120)caG>caA p.Q40Q NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 40 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 CATTCTATCAGAAAACAGCTC 0.318000 20 88 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801109 9801109 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9801109C>T ENST00000457674.2 - 5 1588 c.1070G>A c.(1069-1071)gGa>gAa p.G357E ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGGCTTCTCTCCTGTGTGAAT 0.393000 23 28 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558091 149558091 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:149558091C>T ENST00000223210.4 + 7 2087 c.1842C>T c.(1840-1842)atC>atT p.I614I NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 614 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 AGAGGGAGATCCTGGAGGACG 0.587000 16 29 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909484 123909484 + Silent SNP C C T rs138227924 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:123909484C>T ENST00000330487.5 - 1 233 c.225G>A c.(223-225)acG>acA p.T75T NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TTTTGGGCACCGTGACAGTGG 0.537000 30 108 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149544995 149544995 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:149544995C>T ENST00000223210.4 + 4 658 c.413C>T c.(412-414)tCc>tTc p.S138F NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 AAGCCCCGGTCCATCCAGAAG 0.557000 11 15 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62757842 62757842 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:62757842C>T ENST00000281156.4 - 3 555 c.277G>A c.(277-279)Gaa>Aaa p.E93K NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 93 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) CCTGTTTCTTCCTGTAGCCTC 0.373000 14 60 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43770451 43770451 + Silent SNP T T G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:43770451T>G ENST00000389420.3 - 33 5000 c.5001A>C c.(4999-5001)tcA>tcC p.S1667S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1667 TSP type-1 15. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CACAAGTCACTGAGCACTGTG 0.368000 36 47 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3214914 3214914 + Missense_Mutation SNP T T C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:3214914T>C ENST00000380059.3 - 5 568 c.467A>G c.(466-468)gAc>gGc p.D156G SLC4A11_ENST00000380056.3_Missense_Mutation_p.D129G|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.D113G NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 129 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GCCATCTAGGTCGCGGTGCGC 0.602000 5 163 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40947896 40947896 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:40947896G>A ENST00000246914.5 + 16 3297 c.3276G>A c.(3274-3276)aaG>aaA p.K1092K NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1092 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) ATGATGGGAAGGAACCCCAAG 0.627000 16 49 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43618376 43618376 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:43618376G>A ENST00000292246.3 - 6 1140 c.970C>T c.(970-972)Ctc>Ttc p.L324F ANO10_ENST00000414522.2_Missense_Mutation_p.L324F|ANO10_ENST00000396091.3_Missense_Mutation_p.L258F|ANO10_ENST00000451430.2_Missense_Mutation_p.L213F|ANO10_ENST00000350459.4_Intron NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 324 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 TAGAGGCAGAGGCACACGAAT 0.507000 7 64 0 0 1 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409612 17409612 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:17409612G>A ENST00000339994.4 - 1 594 c.27C>T c.(25-27)ccC>ccT p.P9P KCNJ11_ENST00000528731.1_Intron NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 0 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) CGTATTCCTCGGGGATGATGC 0.672000 4 91 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22962274 22962274 + Missense_Mutation SNP A A G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:22962274A>G ENST00000313077.7 + 19 2227 c.2102A>G c.(2101-2103)cAa>cGa p.Q701R CYFIP1_ENST00000560848.1_Missense_Mutation_p.Q701R|CYFIP1_ENST00000435939.2_Missense_Mutation_p.Q270R NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 701 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TGTTTTGACCAATTTGTTTAC 0.343000 29 40 0 0 1 0 0 MARCH1 55016 broad.mit.edu 37 4 164506934 164506934 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:164506934G>A ENST00000503008.1 - 6 1366 c.390C>T c.(388-390)ttC>ttT p.F130F MARCH1_ENST00000514618.1_Silent_p.F386F|MARCH1_ENST00000274056.7_Silent_p.F130F|MARCH1_ENST00000339875.5_Silent_p.F113F NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 130 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.F113F(1)|p.F130F(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCTCCATTATGAAGTCATACT 0.493000 6 66 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070509 9070509 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9070509G>A ENST00000397910.4 - 3 17140 c.16937C>T c.(16936-16938)tCc>tTc p.S5646F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5648 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 TGATGTGGAGGAAACAGGAGA 0.517000 7 27 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116599764 116599764 + Missense_Mutation SNP C C G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:116599764C>G ENST00000395715.3 - 5 2741 c.2164G>C c.(2164-2166)Gag>Cag p.E722Q TRPS1_ENST00000519674.1_Missense_Mutation_p.E709Q|TRPS1_ENST00000220888.5_Missense_Mutation_p.E709Q|TRPS1_ENST00000520276.1_Missense_Mutation_p.E713Q|TRPS1_ENST00000519076.1_Missense_Mutation_p.E463Q NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 709 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTGAAGTGCTCCAGTAGTGAC 0.493000 Langer-Giedion syndrome 125 73 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78225183 78225183 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:78225183C>T ENST00000361193.3 + 17 1992 c.1712C>T c.(1711-1713)tCt>tTt p.S571F SLC26A11_ENST00000546047.2_Missense_Mutation_p.S571F|SLC26A11_ENST00000411502.3_Missense_Mutation_p.S571F|SLC26A11_ENST00000572725.1_Missense_Mutation_p.S571F NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 571 STAS. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CAGTACTTCTCTACCCTGGAA 0.488000 29 68 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161029125 161029125 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:161029125G>A ENST00000283249.2 - 6 1113 c.876C>T c.(874-876)ctC>ctT p.L292L ITGB6_ENST00000409967.2_Silent_p.L292L|ITGB6_ENST00000428609.2_Silent_p.L250L|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Silent_p.L292L P18564 ITB6_HUMAN integrin, beta 6 292 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 CCAAGTGACAGAGCCCGTCAT 0.468000 17 162 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158736437 158736437 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:158736437G>A ENST00000335094.2 - 1 55 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) CCAAGATGATGAATTCTGCTA 0.463000 12 69 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143772241 143772241 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:143772241C>T ENST00000408898.2 + 1 967 c.929C>T c.(928-930)tCa>tTa p.S310L NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) AAGAGAACTTCATGAAAGCCT 0.398000 88 171 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112665 248112665 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248112665G>A ENST00000357191.3 + 1 506 c.506G>A c.(505-507)cGa>cAa p.R169Q OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 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;0.0152) CCTTATTGCCGATCCAGGGCC 0.478000 56 48 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40947897 40947897 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:40947897G>A ENST00000246914.5 + 16 3298 c.3277G>A c.(3277-3279)Gaa>Aaa p.E1093K NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1093 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TGATGGGAAGGAACCCCAAGT 0.622000 16 50 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31500279 31500279 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:31500279C>T ENST00000330498.3 + 11 1378 c.1359C>T c.(1357-1359)ttC>ttT p.F453F NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 453 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GGCAGCTCTTCGATTACATCC 0.662000 16 74 0 0 1 0 0 IMPA2 3613 broad.mit.edu 37 18 11999176 11999176 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:11999176C>T ENST00000269159.3 + 2 462 c.220C>T c.(220-222)Cct>Tct p.P74S IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 74 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) AGAGAGGTTTCCTTCACACAG 0.493000 56 32 0 0 1 0 0 SLA 6503 broad.mit.edu 37 8 134050865 134050865 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:134050865G>A ENST00000338087.5 - 9 1554 c.735C>T c.(733-735)acC>acT p.T245T SLA_ENST00000395352.3_Silent_p.T262T|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Silent_p.T218T|SLA_ENST00000427060.2_Silent_p.T285T|SLA_ENST00000524345.1_Silent_p.T137T|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 245 SLA C-terminal. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) GATCAAAGGAGGTGTTGTCCT 0.498000 15 162 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155295197 155295197 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:155295197C>T ENST00000392825.3 + 12 2056 c.1489C>T c.(1489-1491)Cac>Tac p.H497Y AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_Missense_Mutation_p.H497Y NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 497 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GTTAAAATGCCACCATATGAG 0.333000 25 51 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12923645 12923645 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:12923645C>T ENST00000361905.4 + 10 1478 c.813C>T c.(811-813)ttC>ttT p.F271F TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Silent_p.F286F|TEAD1_ENST00000526600.1_Silent_p.F190F|TEAD1_ENST00000361985.2_Silent_p.F286F|TEAD1_ENST00000527575.1_Intron NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 286 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) ATGCCTTCTTCCTCGTAAAAT 0.428000 68 66 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4883268 4883268 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:4883268C>T ENST00000361571.5 - 8 1757 c.1346G>A c.(1345-1347)gGg>gAg p.G449E CAMTA2_ENST00000348066.3_Missense_Mutation_p.G450E|CAMTA2_ENST00000381311.5_Missense_Mutation_p.G452E|CAMTA2_ENST00000414043.3_Missense_Mutation_p.G473E|CAMTA2_ENST00000358183.4_Missense_Mutation_p.G450E|CAMTA2_ENST00000572543.1_Missense_Mutation_p.G455E NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 450 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 GAGCTCCTCCCCACTGTCATC 0.642000 58 90 0 0 1 0 0 GBAP1 2630 broad.mit.edu 37 1 155188247 155188247 + RNA SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:155188247C>T ENST00000486869.1 - 0 119 NR_002188.2 TGATGCTTACCCTACCCGAAG 0.552000 49 227 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13724823 13724823 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:13724823G>A ENST00000279593.3 - 10 2295 c.2086C>T c.(2086-2088)Cgc>Tgc p.R696C NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 696 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R696C(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAGTTATTGCGAATATTTCTC 0.483000 22 43 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32221722 32221722 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:32221722G>A ENST00000373658.3 - 4 1057 c.716C>T c.(715-717)cCa>cTa p.P239L BAI2_ENST00000257070.4_Missense_Mutation_p.P239L|BAI2_ENST00000398556.3_Missense_Mutation_p.P242L|BAI2_ENST00000373655.2_Missense_Mutation_p.P239L|BAI2_ENST00000527361.1_Missense_Mutation_p.P239L|BAI2_ENST00000398538.1_Missense_Mutation_p.P227L|BAI2_ENST00000398542.1_Missense_Mutation_p.P227L|BAI2_ENST00000398547.1_Missense_Mutation_p.P227L NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 239 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AGGAGGGCCTGGAGATGTGGT 0.706000 24 36 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860507 13860507 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:13860507G>A ENST00000285018.4 - 4 1288 c.984C>T c.(982-984)ttC>ttT p.F328F NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 328 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 AGCACCAGTGGAACTTACAGT 0.617000 4 58 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94716613 94716613 + Splice_Site SNP A A G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:94716613A>G ENST00000304338.3 + 15 1870 c.1717_splice c.e15+1 p.E572_splice NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 572 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 AATTAATTGAACGTAAGTAAT 0.318000 8 17 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90425381 90425381 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:90425381G>A ENST00000369393.3 - 45 6966 c.6851C>T c.(6850-6852)cCc>cTc p.P2284L MDN1_ENST00000428876.1_Missense_Mutation_p.P2284L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2284 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCTGAAATTGGGATTTGGTGT 0.418000 18 103 0 0 1 0 0 CELA2A 63036 broad.mit.edu 37 1 15792603 15792603 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:15792603C>T ENST00000359621.4 + 6 628 c.603C>T c.(601-603)atC>atT p.I201I CELA2B_ENST00000494280.1_3'UTR NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 201 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 CCAGTATGATCTGTGCTGGGG 0.572000 67 108 0 0 1 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478758 14478758 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:14478758G>A ENST00000581457.1 - 0 1150 NR_024076.1 TACTGTAATGGAAGTGAACCT 0.348000 3 19 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66430759 66430759 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:66430759G>A ENST00000383703.3 - 20 3744 c.3141C>T c.(3139-3141)ccC>ccT p.P1047P LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Silent_p.P1070P Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 1070 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCGTGGACTCGGGACTGGCGT 0.552000 17 116 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35800230 35800230 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:35800230C>T ENST00000440995.2 + 34 4976 c.4976C>T c.(4975-4977)tCc>tTc p.S1659F CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.S1664F|SPEF2_ENST00000303129.4_Missense_Mutation_p.S461F Q9C093 SPEF2_HUMAN sperm flagellar 2 1664 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTCAAAGCTTCCATTCCAAGT 0.458000 53 48 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134154612 134154612 + Silent SNP C C T rs138063978 byFrequency TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:134154612C>T ENST00000452510.2 + 21 3053 c.2895C>T c.(2893-2895)gcC>gcT p.A965A DDX46_ENST00000354283.4_Silent_p.A964A NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 964 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTCTGAAGCCGCAATTACAA 0.413000 14 19 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48271757 48271757 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:48271757G>A ENST00000225964.5 - 23 1685 c.1567C>T c.(1567-1569)Cct>Tct p.P523S NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 523 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCTTCACCAGGAGATCCTTTG 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 61 96 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10971013 10971013 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:10971013G>A ENST00000254488.2 + 10 1425 c.1359G>A c.(1357-1359)gtG>gtA p.V453V NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 453 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) TGGGCCTCGTGATGTTAACAG 0.582000 18 147 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321216 56321216 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:56321216G>A ENST00000443188.1 - 5 1470 c.760C>T c.(760-762)Ccc>Tcc p.P254S NLRP11_ENST00000360133.3_Missense_Mutation_p.P254S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P254S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P155S|NLRP11_ENST00000589093.1_Missense_Mutation_p.P254S NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 254 NACHT. ATP binding p.P254S(1) 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) ACTGGAATGGGAACTTTCTGG 0.448000 30 34 0 0 1 0 0 TRAK2 66008 broad.mit.edu 37 2 202245710 202245710 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:202245710G>A ENST00000332624.3 - 16 2729 c.2301C>T c.(2299-2301)ctC>ctT p.L767L NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 767 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 GGGATTTAGGGAGAGGCTGGA 0.517000 91 126 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551975 100551975 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:100551975C>T ENST00000319509.7 + 1 726 c.726C>T c.(724-726)atC>atT p.I242I mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CCACTATTATCATGTCCTCTT 0.413000 178 1023 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92714720 92714720 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:92714720G>A ENST00000257068.2 + 2 337 c.331G>A c.(331-333)Gag>Aag p.E111K NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 111 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CCTGGGGGAGGAGCACTGCAA 0.582000 73 61 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31023388 31023388 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:31023388C>T ENST00000375687.4 + 13 3297 c.2873C>T c.(2872-2874)tCa>tTa p.S958L ASXL1_ENST00000306058.5_Missense_Mutation_p.S953L NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 958 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 AGCCTTACTTCACTCTGGACT 0.527000 """F, N, Mis""" """MDS, CMML""" 69 47 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164856 139164856 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:139164856C>T ENST00000395297.1 - 13 2032 c.1862G>A c.(1861-1863)gGa>gAa p.G621E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 621 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTGATCTATTCCCTTTCCTAG 0.473000 HNSCC(54;0.14) 16 122 0 0 1 0 0 ACSM3 6296 broad.mit.edu 37 16 20803445 20803445 + Missense_Mutation SNP C C G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:20803445C>G ENST00000289416.5 + 11 1923 c.1448C>G c.(1447-1449)tCc>tGc p.S483C ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.S475C|ERI2_ENST00000300005.3_Intron NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 483 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 GTCATATTATCCTCTGGGTAA 0.403000 53 102 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140183220 140183220 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140183220C>T ENST00000532566.2 + 1 2438 c.2438C>T c.(2437-2439)tCa>tTa p.S813L PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_031497.1 NP_113685.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTGTTTTTCATTCCTCAAT 0.338000 8 25 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 102998082 102998082 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:102998082C>T ENST00000409599.1 + 7 984 c.628C>T c.(628-630)Cgc>Tgc p.R210C IL18R1_ENST00000233957.1_Missense_Mutation_p.R210C Q13478 IL18R_HUMAN interleukin 18 receptor 1 210 Ig-like C2-type 2. R -> H (in dbSNP:rs11465635). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 ACTTCTAGATCGCAGTAATAT 0.328000 5 19 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88391839 88391839 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:88391839C>T ENST00000298699.2 - 4 442 c.262G>A c.(262-264)Gaa>Aaa p.E88K C12orf50_ENST00000550553.1_Missense_Mutation_p.E88K NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 88 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 TCCTCTTCTTCCTCAAAATTA 0.348000 7 15 0 0 1 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647492 33647492 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:33647492G>A ENST00000558425.1 - 2 107 c.108C>T c.(106-108)tcC>tcT p.S36S ACAGTCTCAGGGACCCCCCAG 0.572000 32 175 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3319465 3319465 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:3319465G>A ENST00000378398.3 + 7 872 c.790G>A c.(790-792)Ggc>Agc p.G264S PRDM16_ENST00000378391.2_Missense_Mutation_p.G263S|PRDM16_ENST00000442529.2_Missense_Mutation_p.G263S|PRDM16_ENST00000441472.2_Missense_Mutation_p.G263S|PRDM16_ENST00000514189.1_Missense_Mutation_p.G264S|PRDM16_ENST00000270722.5_Missense_Mutation_p.G263S|PRDM16_ENST00000511072.1_Missense_Mutation_p.G264S|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 263 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GCTCTACGAGGGCCTGGCTGA 0.632000 T EVI1 """MDS, AML""" 33 45 0 0 1 0 0 IGHD 3495 broad.mit.edu 37 14 106311889 106311889 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:106311889G>A ENST00000390556.2 - 0 121 CCATGTACCAGGTGACAGTCA 0.562000 27 30 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21120418 21120418 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:21120418G>A ENST00000377122.4 - 15 1940 c.1544C>T c.(1543-1545)tCc>tTc p.S515F NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 515 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGCCATCTCGGATGCTTTCTT 0.428000 23 18 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242755721 242755721 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:242755721G>A ENST00000391969.2 + 3 751 c.40G>A c.(40-42)Gag>Aag p.E14K NEU4_ENST00000407683.1_Missense_Mutation_p.E14K|NEU4_ENST00000404257.1_Missense_Mutation_p.E26K|NEU4_ENST00000405370.1_Missense_Mutation_p.E14K|NEU4_ENST00000325935.6_Missense_Mutation_p.E27K NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 14 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) AGTGCTCTTCGAGCGGGAGAG 0.692000 31 73 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31562485 31562485 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:31562485G>A ENST00000379416.3 - 34 3692 c.3644C>T c.(3643-3645)tCc>tTc p.S1215F NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1215 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCCCTCGGGGGAATAGTGTAG 0.602000 36 39 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132556461 132556461 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:132556461C>T ENST00000265342.7 - 12 1686 c.1437G>A c.(1435-1437)acG>acA p.T479T CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 479 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAATCTTTTCCGTGGGTTTGA 0.478000 32 44 0 0 1 0 0 TMEM237 65062 broad.mit.edu 37 2 202492842 202492842 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:202492842G>A ENST00000409444.2 - 10 1193 c.876C>T c.(874-876)atC>atT p.I292I TMEM237_ENST00000409883.2_Silent_p.I300I|TMEM237_ENST00000466839.1_5'UTR NM_152388.3 NP_689601.2 Q96Q45 TM237_HUMAN transmembrane protein 237 324 integral to membrane protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3) 7 AAAAATTTCGGATTGCTACTG 0.323000 6 13 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18305764 18305764 + Nonsense_Mutation SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:18305764C>A ENST00000441493.2 - 23 3608 c.3256G>T c.(3256-3258)Gag>Tag p.E1086* NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1086 Glu-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TCTGCTGCCTCCCCTTCTATC 0.572000 8 73 1.12685e-05 1.13464e-05 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129470195 129470195 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:129470195G>A ENST00000421865.2 + 7 1030 c.981G>A c.(979-981)caG>caA p.Q327Q NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 327 Laminin EGF-like 1. 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) GATTCCATCAGAAACCCTGGA 0.403000 23 41 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90385232 90385232 + Nonsense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:90385232G>A ENST00000369393.3 - 78 12827 c.12712C>T c.(12712-12714)Cga>Tga p.R4238* RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Nonsense_Mutation_p.R4238* Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4238 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CGCCGCTGTCGGACGAGCATC 0.532000 27 37 0 0 1 0 0 ADAM33 80332 broad.mit.edu 37 20 3652869 3652869 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:3652869G>A ENST00000356518.2 - 14 1750 c.1509C>T c.(1507-1509)gaC>gaT p.D503D ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Silent_p.D503D|ADAM33_ENST00000379861.4_Silent_p.D503D NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 503 Cys-rich.|Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 AGGGTGAGCCGTCCAGTAGGT 0.662000 4 142 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24879218 24879218 + Nonsense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:24879218C>T ENST00000382554.3 + 4 2536 c.2218C>T c.(2218-2220)Cag>Tag p.Q740* NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 740 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 GCACCAGTTTCAGATGGAGGG 0.632000 4 25 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172480255 172480255 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:172480255C>T ENST00000417960.1 + 9 1189 c.712C>T c.(712-714)Cca>Tca p.P238S ECT2_ENST00000427830.1_Missense_Mutation_p.P239S|ECT2_ENST00000392692.3_Missense_Mutation_p.P270S|ECT2_ENST00000441497.2_Missense_Mutation_p.P239S|ECT2_ENST00000232458.5_Missense_Mutation_p.P239S|ECT2_ENST00000540509.1_Missense_Mutation_p.P270S NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 239 BRCT 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TAAAGTTCCTCCATTTCAAGA 0.303000 20 22 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174110 51174110 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:51174110G>A ENST00000440970.1 - 2 2163 c.1732C>T c.(1732-1734)Cct>Tct p.P578S SALL1_ENST00000251020.4_Missense_Mutation_p.P675S|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 675 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P675S(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCCCCAAAAGGAAACTTGGCC 0.582000 16 104 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7242713 7242713 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:7242713G>A ENST00000542285.1 - 3 509 c.360C>T c.(358-360)tcC>tcT p.S120S P00736 C1R_HUMAN complement component 1, r subcomponent 121 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTCCTCGTTGGAGAAGTCTG 0.547000 9 17 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103234148 103234148 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:103234148C>T ENST00000428762.1 - 27 4052 c.3893G>A c.(3892-3894)gGa>gAa p.G1298E RELN_ENST00000343529.5_Missense_Mutation_p.G1298E|RELN_ENST00000424685.2_Missense_Mutation_p.G1298E NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1298 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) TAGCACATATCCAGGTTTCAG 0.393000 35 77 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204587926 204587926 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:204587926C>T ENST00000367175.1 - 1 3407 c.1195G>A c.(1195-1197)Gag>Aag p.E399K LRRN2_ENST00000367177.3_Missense_Mutation_p.E399K|LRRN2_ENST00000367176.3_Missense_Mutation_p.E399K O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 399 LRRCT. cell adhesion integral to membrane receptor activity p.E399K(1) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TCCGGAGGCTCCGCACACAGG 0.662000 124 67 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400535 89400535 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:89400535G>A ENST00000439576.2 + 12 5093 c.4719G>A c.(4717-4719)agG>agA p.R1573R ACAN_ENST00000559004.1_Silent_p.R1573R|ACAN_ENST00000352105.7_Silent_p.R1573R|ACAN_ENST00000561243.1_Silent_p.R1573R NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1573 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTTCTGGAAGGGAGGGTCTAG 0.542000 26 41 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382192 152382192 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:152382192C>T ENST00000271835.3 - 3 1428 c.1366G>A c.(1366-1368)Gac>Aac p.D456N RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 456 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTGCCCTGGTCCAGCCTGAGG 0.557000 90 43 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114824085 114824085 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:114824085G>A ENST00000315366.7 - 2 2011 c.1145C>T c.(1144-1146)cCc>cTc p.P382L ARSJ_ENST00000541197.1_Missense_Mutation_p.P382L NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 382 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) AATGAGAGTGGGGTACCAGTC 0.498000 21 140 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4281538 4281538 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:4281538G>A ENST00000404826.2 + 43 6383 c.6244G>A c.(6244-6246)Ggg>Agg p.G2082R SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Missense_Mutation_p.G2062R NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 2082 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAAGAAGAACGGGACCAGGTA 0.642000 20 42 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 37 63 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50186633 50186633 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:50186633G>A ENST00000335999.6 - 11 3678 c.3477C>T c.(3475-3477)ccC>ccT p.P1159P NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1155 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GCCGAGCTGGGGGTACCCCAG 0.672000 5 26 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53785796 53785796 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:53785796C>T ENST00000288139.3 + 29 3715 c.3597C>T c.(3595-3597)gcC>gcT p.A1199A CACNA1D_ENST00000540742.1_Silent_p.A86A|CACNA1D_ENST00000350061.5_Silent_p.A1179A|CACNA1D_ENST00000422281.2_Silent_p.A1179A NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1179 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTGAATACGCCTTGAAAGCAC 0.512000 42 148 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43766249 43766249 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:43766249G>A ENST00000244293.7 - 3 538 c.472C>T c.(472-474)Ccc>Tcc p.P158S PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.P158S|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.P158S Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 158 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GCCTCCCTGGGGTTTAAGTTG 0.532000 73 236 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55992909 55992909 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:55992909C>T ENST00000598519.1 + 3 902 c.349C>T c.(349-351)Ctg>Ttg p.L117L ZNF628_ENST00000391718.2_Silent_p.L113L NM_033113.2 NP_149104.3 Q5EBL2 ZN628_HUMAN zinc finger protein 628 113 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) GCACACCGGCCTGCGGGCCTT 0.672000 5 36 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903151 5903151 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:5903151G>A ENST00000378961.4 + 4 565 c.361G>A c.(361-363)Gag>Aag p.E121K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 121 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GGCAGACACAGAGAAATGGGC 0.627000 13 10 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78940988 78940988 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:78940988C>T ENST00000453514.1 + 8 1487 c.794C>T c.(793-795)cCa>cTa p.P265L PAPD4_ENST00000423041.2_Missense_Mutation_p.P261L|PAPD4_ENST00000296783.3_Missense_Mutation_p.P265L|PAPD4_ENST00000504233.1_Missense_Mutation_p.P265L|PAPD4_ENST00000428308.2_Missense_Mutation_p.P265L NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 265 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) GCAAAAGTGCCAATTGTGAAG 0.343000 5 22 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894130 10894130 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:10894130G>A ENST00000283141.6 + 3 405 c.109G>A c.(109-111)Gat>Aat p.D37N RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 37 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TGCATTCCATGATAAAGGATT 0.303000 10 24 0 0 1 0 0 TRBV19 28568 broad.mit.edu 37 7 142326486 142326486 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:142326486G>A ENST00000390393.3 + 0 124 CTGCACATTAGGCCAGGAGAA 0.512000 3 19 0 0 1 0 0 TMEM70 54968 broad.mit.edu 37 8 74888620 74888620 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:74888620C>T ENST00000312184.5 + 1 177 c.104C>T c.(103-105)tCt>tTt p.S35F TMEM70_ENST00000523794.1_3'UTR|TMEM70_ENST00000517439.1_Missense_Mutation_p.S35F NM_001040613.2|NM_017866.5 NP_001035703.1|NP_060336.3 Q9BUB7 TMM70_HUMAN transmembrane protein 70 35 mitochondrial proton-transporting ATP synthase complex assembly integral to mitochondrial membrane|mitochondrial inner membrane breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) CCCCGGGCCTCTGTCTCCCGG 0.731000 32 10 0 0 1 0 0 HTR3D 200909 broad.mit.edu 37 3 183756374 183756374 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:183756374G>A ENST00000382489.3 + 7 1097 c.1097G>A c.(1096-1098)gGa>gAa p.G366E HTR3D_ENST00000334128.2_Missense_Mutation_p.G191E|HTR3D_ENST00000453435.1_Missense_Mutation_p.G145E|HTR3D_ENST00000428798.2_Missense_Mutation_p.G316E NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 366 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCCCAGAAGGGAAATAAGGGC 0.657000 12 32 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49168221 49168221 + Silent SNP G G A rs115957272 by1000genomes TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:49168221G>A ENST00000307885.4 - 13 2941 c.2247C>T c.(2245-2247)tcC>tcT p.S749S ADCY6_ENST00000550422.1_Silent_p.S749S|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.S749S NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 749 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 ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CAAGCAGGACGGAAAAGATGC 0.557000 27 51 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193031915 193031915 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:193031915C>T ENST00000342358.4 - 19 2343 c.2226G>A c.(2224-2226)gtG>gtA p.V742V ATP13A5-AS1_ENST00000414634.1_RNA NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 742 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CAACAATGATCACTTGGCTGC 0.468000 68 49 0 0 1 0 0 TWISTNB 221830 broad.mit.edu 37 7 19739776 19739776 + Missense_Mutation SNP T T A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:19739776T>A ENST00000222567.5 - 3 594 c.524A>T c.(523-525)gAt>gTt p.D175V NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 175 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 TTCTAGTTCATCACCCATGTT 0.408000 28 164 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077349 9077349 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9077349G>A ENST00000397910.4 - 3 10300 c.10097C>T c.(10096-10098)tCc>tTc p.S3366F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3367 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 AAGGATATTGGAAGATGTGCT 0.468000 58 165 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21015708 21015708 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:21015708G>A ENST00000381545.3 + 8 866 c.647G>A c.(646-648)gGa>gAa p.G216E SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G216E|LST3_ENST00000540229.1_Missense_Mutation_p.G216E|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G216E|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 216 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) AATGCAATAGGAATGATTGGT 0.318000 16 52 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701903 56701903 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:56701903C>T ENST00000586855.2 - 5 1094 c.781G>A c.(781-783)Gcc>Acc p.A261T ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.A261T A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 261 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCCACAGAGGCTCTTTTCTGG 0.493000 29 87 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812796 141812796 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:141812796C>T ENST00000389484.3 - 10 2412 c.1441G>A c.(1441-1443)Gga>Aga p.G481R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 481 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) CCTGGCATTCCATATGGATCG 0.443000 TSP Lung(27;0.18) 22 34 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110838762 110838762 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:110838762G>A ENST00000375820.4 - 26 1988 c.1867C>T c.(1867-1869)Cct>Tct p.P623S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 623 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGGCCTCCAGGAAAGCCTGCT 0.607000 120 74 0 0 1 0 0 PAEP 5047 broad.mit.edu 37 9 138457324 138457324 + Missense_Mutation SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:138457324C>A ENST00000479141.1 + 5 534 c.490C>A c.(490-492)Cac>Aac p.H164N PAEP_ENST00000371766.2_Missense_Mutation_p.H164N|PAEP_ENST00000277508.5_Missense_Mutation_p.H164N NM_002571.2 NP_002562.2 P09466 PAEP_HUMAN progestagen-associated endometrial protein 164 multicellular organismal development extracellular region binding|transporter activity cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) CCTGCCCAGGCACCTATGGTA 0.592000 14 51 7.93312e-07 8.01014e-07 1 1 0 ASTN2 23245 broad.mit.edu 37 9 119858427 119858427 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:119858427C>T ENST00000313400.4 - 5 1272 c.1172G>A c.(1171-1173)gGa>gAa p.G391E ASTN2_ENST00000361209.2_Missense_Mutation_p.G340E|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.G391E O75129 ASTN2_HUMAN astrotactin 2 391 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AAAGCTGATTCCTCCTGTGAG 0.557000 28 18 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20796595 20796595 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:20796595C>T ENST00000328879.4 - 7 1826 c.1670G>A c.(1669-1671)gGc>gAc p.G557D KLHL22_ENST00000440659.2_Missense_Mutation_p.G414D NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 557 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TGTGCGGCTGCCGCGGTTGTG 0.612000 26 81 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368658 40368658 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:40368658G>A ENST00000221347.6 - 28 12697 c.12690C>T c.(12688-12690)ttC>ttT p.F4230F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4230 VWFD 10. 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) TGCCATTAGGGAAGACCTGGT 0.642000 31 152 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 65 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179552868 179552868 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179552868C>T ENST00000589042.1 - 127 32505 c.32281G>A c.(32281-32283)Gag>Aag p.E10761K TTN_ENST00000591111.1_Missense_Mutation_p.E10444K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9517K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10444 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTCTTCCTCCTCCTCTCTT 0.388000 27 82 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13850769 13850769 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:13850769G>A ENST00000265104.4 - 31 5210 c.5106C>T c.(5104-5106)tcC>tcT p.S1702S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1702 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACCCAGTAAGGGATTTCTGGC 0.463000 Kartagener syndrome 18 62 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756631 248756631 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248756631C>T ENST00000330500.2 - 1 469 c.439G>A c.(439-441)Ggc>Agc p.G147S NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AACCAGCAGCCTGATGCCAGG 0.547000 113 75 0 0 1 0 0 BCMO1 53630 broad.mit.edu 37 16 81295790 81295790 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:81295790C>T ENST00000258168.2 + 4 834 c.373C>T c.(373-375)Ctg>Ttg p.L125L BCMO1_ENST00000564552.1_Silent_p.L125L|BCMO1_ENST00000425577.2_Silent_p.L56L NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 125 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 CGACAACTGCCTGATCAACAT 0.498000 52 118 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244858 46244858 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:46244858C>T ENST00000334344.6 + 15 3124 c.2952C>T c.(2950-2952)gtC>gtT p.V984V ARID2_ENST00000444670.1_Silent_p.V594V|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.V835V NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 984 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ATAACCAAGTCCCTACTGCCA 0.488000 """N, S, F""" hepatocellular carcinoma 48 87 0 0 1 0 0 DLL4 54567 broad.mit.edu 37 15 41229062 41229062 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:41229062C>T ENST00000249749.5 + 9 2153 c.1877C>T c.(1876-1878)aCc>aTc p.T626I NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 626 blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GGGCGGGGGACCATGCCAGGA 0.597000 21 29 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175742627 175742627 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:175742627G>A ENST00000409900.3 - 6 803 c.490C>T c.(490-492)Ctg>Ttg p.L164L CHN1_ENST00000409156.3_Silent_p.L164L|CHN1_ENST00000488080.1_Intron NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 164 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) GTCTCTTTCAGGACTGGCATA 0.413000 T TAF15 extraskeletal myxoid chondrosarcoma 26 58 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89943434 89943434 + Missense_Mutation SNP A A G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:89943434A>G ENST00000405460.2 + 17 3238 c.3142A>G c.(3142-3144)Aga>Gga p.R1048G NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1048 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) GGCTACTGCAAGAGAGAGAGA 0.418000 42 50 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109610100 109610100 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:109610100C>T ENST00000338432.7 + 6 1175 c.1056C>T c.(1054-1056)ggC>ggT p.G352G ACACB_ENST00000377848.3_Silent_p.G352G|ACACB_ENST00000377854.5_Silent_p.G352G O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 352 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CTGGCTGGGGCCATGCTTCAG 0.512000 77 211 0 0 1 0 0 CNN3 1266 broad.mit.edu 37 1 95363557 95363557 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:95363557G>A ENST00000370206.4 - 7 1114 c.731C>T c.(730-732)tCc>tTc p.S244F CNN3_ENST00000545882.1_Missense_Mutation_p.S203F|CNN3_ENST00000538964.1_Missense_Mutation_p.S244F|CNN3_ENST00000394202.4_Missense_Mutation_p.S198F|CNN3_ENST00000487539.1_5'UTR NM_001839.3 NP_001830.1 Q15417 CNN3_HUMAN calponin 3, acidic 244 actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2) 18 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) CATCTGTAGGGAAATTGTCGA 0.463000 56 90 0 0 1 0 0 CEP57L1 285753 broad.mit.edu 37 6 109480270 109480270 + Missense_Mutation SNP T T A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:109480270T>A ENST00000407272.1 + 10 1364 c.787T>A c.(787-789)Tca>Aca p.S263T CEP57L1_ENST00000520883.1_Missense_Mutation_p.S187T|CEP57L1_ENST00000517392.1_Missense_Mutation_p.S263T|CEP57L1_ENST00000521522.1_Missense_Mutation_p.S234T|CEP57L1_ENST00000336977.4_Missense_Mutation_p.S187T|CEP57L1_ENST00000368968.2_Missense_Mutation_p.S263T|CEP57L1_ENST00000368970.2_Missense_Mutation_p.S263T|CEP57L1_ENST00000359793.3_Missense_Mutation_p.S263T|CEP57L1_ENST00000523787.1_Missense_Mutation_p.S266T NM_001083535.1 NP_001077004.1 Q8IYX8 CE57L_HUMAN centrosomal protein 57kDa-like 1 263 microtubule|microtubule organizing center endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1) 11 GCAAATTTGTTCAAAGTTTGG 0.328000 29 35 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642539 57642539 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:57642539C>T ENST00000254181.4 + 4 2950 c.2496C>T c.(2494-2496)atC>atT p.I832I USP29_ENST00000598197.1_Silent_p.I832I NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 832 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCAGCCATATCGGGAGCTCCC 0.473000 9 43 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92139226 92139226 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:92139226G>A ENST00000256343.3 - 13 1269 c.1113C>T c.(1111-1113)taC>taT p.Y371Y NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 371 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) TATAGAAGAGGTAAACTCCAG 0.348000 50 50 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19634765 19634765 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:19634765G>A ENST00000328041.6 + 7 869 c.672G>A c.(670-672)gtG>gtA p.V224V NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 224 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CGCTGTCTGTGATCGCGCTCA 0.517000 25 64 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940632 22940632 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:22940632C>T ENST00000397104.3 - 5 1805 c.1806G>A c.(1804-1806)agG>agA p.R602R ZNF99_ENST00000596209.1_Silent_p.R693R zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTATGTTTCCTAAGGGCTG 0.373000 22 53 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109545722 109545722 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:109545722G>A ENST00000409271.1 - 5 731 c.288C>T c.(286-288)ttC>ttT p.F96F EDAR_ENST00000258443.2_Silent_p.F96F|EDAR_ENST00000376651.1_Silent_p.F96F Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 96 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 TGGCCCGGAAGAAGCCCTCAC 0.612000 15 49 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63852146 63852146 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:63852146C>T ENST00000279873.7 + 10 3334 c.2924C>T c.(2923-2925)tCa>tTa p.S975L ARID5B_ENST00000309334.5_Missense_Mutation_p.S732L NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 975 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CTTTCAAGATCAGGAAAACCT 0.522000 47 41 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47045637 47045637 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:47045637C>T ENST00000450053.3 + 37 6131 c.5952C>T c.(5950-5952)cgC>cgT p.R1984R NBEAL2_ENST00000383740.2_Silent_p.R263R|NBEAL2_ENST00000292309.5_Silent_p.R1800R NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1984 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) TCAACCTGCGCCGTTCAGCAC 0.587000 207 158 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544950 82544950 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:82544950G>A ENST00000423517.2 - 7 12689 c.12352C>T c.(12352-12354)Cct>Tct p.P4118S PCLO_ENST00000437081.1_Missense_Mutation_p.P838S|PCLO_ENST00000333891.8_Missense_Mutation_p.P4118S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4049 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AACTCGTAAGGATCCTCCATT 0.443000 28 40 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69656215 69656215 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:69656215C>T ENST00000435070.2 + 9 1642 c.1532C>T c.(1531-1533)tCc>tTc p.S511F CPSF6_ENST00000456847.3_Missense_Mutation_p.S438F|CPSF6_ENST00000266679.8_Missense_Mutation_p.S548F|CPSF6_ENST00000551516.1_Intron NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 511 Arg-rich.|Sufficient for nuclear targeting. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CGTCATAAATCCCGTAGTAGA 0.473000 11 65 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129290539 129290539 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:129290539G>A ENST00000393239.1 - 16 3404 c.3226C>T c.(3226-3228)Ccc>Tcc p.P1076S PLXND1_ENST00000324093.4_Missense_Mutation_p.P1076S Q9Y4D7 PLXD1_HUMAN plexin D1 1076 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CTGCGGCGGGGACTGATGGCC 0.667000 75 58 0 0 1 0 0 SPINT1 6692 broad.mit.edu 37 15 41145988 41145988 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:41145988C>T ENST00000344051.4 + 5 1056 c.822C>T c.(820-822)atC>atT p.I274I SPINT1_ENST00000562057.1_Silent_p.I274I|SPINT1_ENST00000431806.1_Silent_p.I274I O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 274 BPTI/Kunitz inhibitor 1. extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CGGAGCAGATCTGCAAGAGTT 0.562000 38 119 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67298300 67298300 + Nonsense_Mutation SNP G G T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:67298300G>T ENST00000299798.11 + 13 1953 c.1888G>T c.(1888-1890)Gag>Tag p.E630* NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 630 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GGATGCGCAGGAGCGGCAGGA 0.577000 8 30 9.70103e-10 9.86361e-10 1 1 0 TTC21B 79809 broad.mit.edu 37 2 166786250 166786250 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:166786250G>A ENST00000243344.7 - 10 1232 c.1095C>T c.(1093-1095)atC>atT p.I365I NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 365 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 ACTGACATTGGATAAATCCTA 0.368000 19 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179407408 179407408 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179407408G>A ENST00000589042.1 - 348 97397 c.97173C>T c.(97171-97173)acC>acT p.T32391T TTN_ENST00000591111.1_Silent_p.T30750T|TTN_ENST00000342175.6_Silent_p.T23518T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.T23451T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.T23326T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.T29823T|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30750 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAACTTTAATGGTTTCTGAAG 0.338000 83 141 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10973727 10973727 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr21:10973727C>T ENST00000298232.7 - 4 374 c.7G>A c.(7-9)Gaa>Aaa p.E3K TPTE_ENST00000342420.5_Missense_Mutation_p.E3K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E3K NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 3 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTCACCTTTCATTCATACGT 0.373000 12 67 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53453062 53453062 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:53453062G>A ENST00000314250.6 + 18 1927 c.1637G>A c.(1636-1638)gGa>gAa p.G546E TENC1_ENST00000549700.1_Missense_Mutation_p.G546E|TENC1_ENST00000552570.1_Missense_Mutation_p.G546E|TENC1_ENST00000546602.1_Missense_Mutation_p.G546E|TENC1_ENST00000451358.1_Missense_Mutation_p.G546E|TENC1_ENST00000314276.3_Missense_Mutation_p.G556E|TENC1_ENST00000379902.3_Missense_Mutation_p.G422E NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 546 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CGCCTCCTAGGAGGCTGCGGA 0.701000 5 11 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130410937 130410937 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:130410937C>T ENST00000370904.1 - 20 3467 c.2557G>A c.(2557-2559)Gac>Aac p.D853N IGSF1_ENST00000370910.1_Missense_Mutation_p.D853N|IGSF1_ENST00000361420.3_Missense_Mutation_p.D862N|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.D867N Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 862 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCACAGGGTCGCTGGGCTCA 0.557000 119 89 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91182039 91182039 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:91182039C>T ENST00000420329.2 + 13 1687 c.1540C>T c.(1540-1542)Cct>Tct p.P514S RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.P514S NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 514 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CCCTGCCTTTCCTCAACAGGT 0.493000 T MAML2 salivary gland mucoepidermoid 10 34 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95757660 95757660 + Splice_Site SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:95757660C>T ENST00000311106.3 - 5 781 c.543_splice c.e5-1 p.D182_splice CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Splice_Site_p.D135_splice NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 182 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity p.D182N(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCCTCTGGATCCTAAAGAGAC 0.358000 25 33 0 0 1 0 0 DNA2 1763 broad.mit.edu 37 10 70229752 70229752 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:70229752G>A ENST00000399180.2 - 2 500 c.501C>T c.(499-501)atC>atT p.I167I DNA2_ENST00000358410.3_Silent_p.I81I|DNA2_ENST00000399179.2_Silent_p.I81I P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 81 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 CATTCCTAAGGATGCATAGTT 0.393000 4 7 0 0 1 0 0 ZNF728 388523 broad.mit.edu 37 19 23159466 23159466 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:23159466C>T ENST00000594710.1 - 4 818 c.673G>A c.(673-675)Gag>Aag p.E225K NM_001267716.1 NP_001254645.1 zinc finger protein 728 CAGGGTTTCTCTCCAGTATGA 0.358000 12 33 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57012419 57012419 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:57012419C>T ENST00000370706.4 + 10 1780 c.1536C>T c.(1534-1536)gtC>gtT p.V512V RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Silent_p.V512V|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Silent_p.V512V|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATTCAGGGGTCATTCGTTTAC 0.408000 194 156 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35131548 35131548 + RNA SNP G G A rs144021252 by1000genomes TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:35131548G>A ENST00000436258.1 - 0 1821 TGGCACCTGCGAAGACAGCAT 0.388000 3 47 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34881062 34881062 + Silent SNP T T C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:34881062T>C ENST00000431794.3 - 6 933 c.411A>G c.(409-411)ggA>ggG p.G137G MYO19_ENST00000544606.1_Intron|MYO19_ENST00000268852.9_Silent_p.G137G|MYO19_ENST00000586007.1_Silent_p.G137G NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 137 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TTCCTACCTTTCCAGCACCAC 0.522000 11 166 0 0 1 0 0 SPRY4 81848 broad.mit.edu 37 5 141694699 141694699 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:141694699G>A ENST00000344120.4 - 3 230 c.44C>T c.(43-45)tCc>tTc p.S15F SPRY4_ENST00000503582.1_5'UTR|SPRY4_ENST00000434127.2_5'UTR NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 0 multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACTGTACGGAGAAACAGGC 0.612000 Testicular Cancer, Familial Clustering of 11 22 0 0 1 0 0 PCOLCE 5118 broad.mit.edu 37 7 100204225 100204225 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:100204225G>A ENST00000223061.5 + 6 1192 c.912G>A c.(910-912)gaG>gaA p.E304E NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 304 Cleavage. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AACCTCCGGAGAAAACAGAGG 0.597000 20 45 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812795 141812795 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:141812795C>T ENST00000389484.3 - 10 2413 c.1442G>A c.(1441-1443)gGa>gAa p.G481E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 481 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) CCCTGGCATTCCATATGGATC 0.448000 TSP Lung(27;0.18) 21 34 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25174578 25174578 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:25174578G>A ENST00000276440.7 + 14 1418 c.1374G>A c.(1372-1374)ggG>ggA p.G458G NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 458 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTGACAAAGGGAAGAAGAAGA 0.507000 31 110 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16259588 16259588 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:16259588C>T ENST00000375759.3 + 11 7057 c.6853C>T c.(6853-6855)Cca>Tca p.P2285S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2285 Interaction with MSX2 (By similarity).|RID. 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) TTCTAGGCCTCCAGTCAATGC 0.547000 63 94 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88566395 88566395 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:88566395C>T ENST00000266712.6 + 8 1292 c.1072C>T c.(1072-1074)Cca>Tca p.P358S NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 358 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AATGGCATTACCATTTATTCC 0.299000 29 47 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214184 140214184 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140214184G>A ENST00000525929.1 + 1 216 c.216G>A c.(214-216)ggG>ggA p.G72G PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.G72G|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATTCCGTGGGGATCTTCTGG 0.617000 112 147 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147114146 147114146 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:147114146C>T ENST00000383075.3 - 3 693 c.181G>A c.(181-183)Gga>Aga p.G61R ZIC4_ENST00000484399.1_Missense_Mutation_p.G61R|ZIC4_ENST00000425731.3_Missense_Mutation_p.G99R|ZIC4_ENST00000473123.1_Missense_Mutation_p.G61R|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.G111R NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 61 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 CGCAGGAGTCCATTCAAAGGA 0.736000 9 38 0 0 1 0 0 APOO 79135 broad.mit.edu 37 X 23876823 23876823 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:23876823G>A ENST00000379226.4 - 6 647 c.416C>T c.(415-417)cCg>cTg p.P139L APOO_ENST00000379220.3_Missense_Mutation_p.P120L NM_024122.4 NP_077027.1 Q9BUR5 APOO_HUMAN apolipoprotein O 139 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1) 9 GAAACCAGGCGGATACACTAG 0.403000 30 21 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84412889 84412889 + Nonsense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:84412889G>A ENST00000260505.8 - 6 801 c.424C>T c.(424-426)Caa>Taa p.Q142* TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 142 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) ACATAATTTTGGAATTGAGTA 0.358000 4 34 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105393510 105393510 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:105393510G>A ENST00000351513.2 - 9 1608 c.1476C>T c.(1474-1476)ccC>ccT p.P492P DPYS_ENST00000521601.1_5'UTR NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 492 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) CTCCCTTATAGGGTGCACGCT 0.488000 68 39 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189859478 189859478 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:189859478G>A ENST00000304636.3 + 20 1546 c.1376G>A c.(1375-1377)gGa>gAa p.G459E COL3A1_ENST00000317840.5_Missense_Mutation_p.G459E NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 459 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTGTTCCAGGAGCTAAAGGC 0.433000 43 54 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160278903 160278903 + Missense_Mutation SNP G G T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:160278903G>T ENST00000241704.7 - 13 1436 c.1207C>A c.(1207-1209)Cag>Aag p.Q403K COPA_ENST00000368069.3_Missense_Mutation_p.Q403K NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 403 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCAGGATTCTGGGAGTCAGCA 0.433000 13 134 4.7546e-09 4.81412e-09 1 1 0 TPP2 7174 broad.mit.edu 37 13 103317235 103317235 + Missense_Mutation SNP A A G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:103317235A>G ENST00000376052.3 + 27 3347 c.3331A>G c.(3331-3333)Atg>Gtg p.M1111V TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376065.4_Missense_Mutation_p.M1098V P29144 TPP2_HUMAN tripeptidyl peptidase II 1098 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTATATTGCAATGAAGACTGA 0.358000 6 28 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28713961 28713961 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:28713961G>A ENST00000257197.3 - 13 2270 c.2009C>T c.(2008-2010)cCa>cTa p.P670L DSC1_ENST00000257198.5_Missense_Mutation_p.P670L|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 670 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ACACTCAGATGGAGTTGAACA 0.363000 56 49 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135423 156135423 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:156135423C>T ENST00000329476.3 + 2 821 c.332C>T c.(331-333)aCc>aTc p.T111I NPY2R_ENST00000506608.1_Missense_Mutation_p.T111I NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 111 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CTTACCTATACCTTAATGGGG 0.488000 8 46 0 0 1 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725435 106725435 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:106725435G>A ENST00000390609.2 - 0 195 CTGCACAGGAGAGTCTCAGGG 0.572000 96 515 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133474253 133474253 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:133474253G>A ENST00000402696.3 + 5 1034 c.549G>A c.(547-549)ggG>ggA p.G183G TF_ENST00000264998.3_Silent_p.G56G NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 183 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GTGCGGATGGGACGGACTTCC 0.572000 45 37 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985287 140985287 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:140985287G>A ENST00000544766.1 + 5 1376 c.849G>A c.(847-849)agG>agA p.R283R MAGEC3_ENST00000536088.1_Silent_p.R283R|MAGEC3_ENST00000443323.2_Silent_p.R203R|MAGEC3_ENST00000409007.1_Silent_p.R283R|MAGEC3_ENST00000298296.1_Intron NM_177456.2 NP_803251.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 0 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GTGCTGGGAGGGAGCACTTTA 0.512000 34 84 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325020 79325020 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:79325020C>T ENST00000428286.1 - 8 2293 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K PRUNE2_ENST00000376718.3_Missense_Mutation_p.E724K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 724 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTACCCAGTTCAGGCTGACCA 0.468000 29 9 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55396759 55396759 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:55396759G>A ENST00000355524.3 + 3 193 c.183G>A c.(181-183)atG>atA p.M61I FCAR_ENST00000469767.1_Missense_Mutation_p.M61I|FCAR_ENST00000391725.3_Missense_Mutation_p.M61I|FCAR_ENST00000345937.4_Missense_Mutation_p.M61I|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Missense_Mutation_p.M49I|FCAR_ENST00000391726.3_Missense_Mutation_p.M49I|FCAR_ENST00000359272.4_Missense_Mutation_p.M49I|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391723.3_Missense_Mutation_p.M49I NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 61 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity p.M61I(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CCCAGCTGATGATCATAAAAA 0.468000 22 43 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238048610 238048610 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:238048610G>A ENST00000366570.4 - 9 1324 c.1166C>T c.(1165-1167)cCc>cTc p.P389L RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 389 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCCAATGTAGGGGCAGCTAGA 0.512000 5 51 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128973907 128973907 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:128973907C>T ENST00000522781.1 - 4 1308 c.753G>A c.(751-753)acG>acA p.T251T FAM196A_ENST00000424811.2_Silent_p.T251T|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 251 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TGGCAACCTCCGTTTTAAACA 0.657000 14 13 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573519 140573519 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140573519G>A ENST00000239446.4 + 1 1578 c.1394G>A c.(1393-1395)aGc>aAc p.S465N NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 465 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAACAACAGCCCCGCCCTG 0.632000 94 156 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54797943 54797943 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:54797943C>T ENST00000293379.4 - 15 1812 c.1551G>A c.(1549-1551)ggG>ggA p.G517G RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 517 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CCACAGGGTTCCCCTCTAAGC 0.612000 OREG0021554 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 93 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9014639 9014639 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9014639C>T ENST00000397910.4 - 31 38539 c.38336G>A c.(38335-38337)aGc>aAc p.S12779N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12781 SEA 5. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACTCCAGGGCTTTTGGGGTC 0.557000 39 81 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 4 41 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995558 19995558 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:19995558G>A ENST00000391403.2 - 1 2320 c.2217C>T c.(2215-2217)ttC>ttT p.F739F NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 739 Pro-rich. integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGGCTGGGGGGAAAAATGCAG 0.498000 20 13 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120764282 120764282 + Splice_Site SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:120764282G>A ENST00000273666.6 + 5 641 c.369_splice c.e5-1 p.G124_splice STXBP5L_ENST00000471454.1_Splice_Site_p.G124_splice|STXBP5L_ENST00000472879.1_Splice_Site_p.G124_splice|STXBP5L_ENST00000492541.1_Splice_Site_p.G124_splice|STXBP5L_ENST00000497029.1_Splice_Site_p.G124_splice NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 124 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TTTGTTCTAGGGTGCCTTGGT 0.358000 12 103 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114214 117114214 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:117114214C>T ENST00000310357.3 - 6 1893 c.1872G>A c.(1870-1872)gtG>gtA p.V624V GPRC6A_ENST00000368549.3_Silent_p.V553V|GPRC6A_ENST00000530250.1_Silent_p.V449V NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 624 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CGGATGATTTCACAACAGGTG 0.428000 31 53 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38241319 38241319 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:38241319G>A ENST00000302609.7 - 6 1319 c.1107C>T c.(1105-1107)ccC>ccT p.P369P ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) TGCATTCATAGGGCTTCTCCC 0.408000 34 20 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066296 23066296 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:23066296G>A ENST00000246006.4 - 1 681 c.534C>T c.(532-534)ttC>ttT p.F178F NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 178 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) ACTTGCACACGAAGCCCTCAA 0.652000 62 61 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11903989 11903989 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:11903989C>T ENST00000405977.1 + 5 1869 c.1244C>T c.(1243-1245)tCc>tTc p.S415F BTBD3_ENST00000378226.2_Missense_Mutation_p.S415F|BTBD3_ENST00000254977.3_Missense_Mutation_p.S354F|BTBD3_ENST00000399006.2_Missense_Mutation_p.S354F Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 415 p.S415C(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 CTGTATGGCTCCAGCTGTGGT 0.517000 12 81 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240387 3240387 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:3240387C>T ENST00000217939.6 - 5 3493 c.3339G>A c.(3337-3339)gcG>gcA p.A1113A NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1113 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) CTGTGGTTTCCGCAGGCTTCT 0.493000 29 27 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531653 92531653 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:92531653C>T ENST00000298047.6 + 9 5491 c.5474C>T c.(5473-5475)aCg>aTg p.T1825M FAT3_ENST00000409404.2_Missense_Mutation_p.T1825M|FAT3_ENST00000525166.1_Missense_Mutation_p.T1675M Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1825 Cadherin 16. 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) AAGTTTTTCACGGTGGACTCC 0.473000 TCGA Ovarian(4;0.039) 15 9 0 0 1 0 0 PACRGL 133015 broad.mit.edu 37 4 20728952 20728952 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:20728952C>T ENST00000360916.5 + 8 1045 c.654C>T c.(652-654)tcC>tcT p.S218S PACRGL_ENST00000295290.8_Silent_p.S218S|PACRGL_ENST00000507634.1_Silent_p.S218S|PACRGL_ENST00000538990.1_Silent_p.S120S|PACRGL_ENST00000502374.1_3'UTR|PACRGL_ENST00000444671.2_Silent_p.S120S|PACRGL_ENST00000503585.1_Silent_p.S245S|PACRGL_ENST00000513459.1_Silent_p.S165S|PACRGL_ENST00000502938.1_Silent_p.S84S NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 245 binding p.S218S(1) endometrium(2)|lung(7)|prostate(1) 10 CATACTGCTCCATATGCTGTT 0.368000 8 57 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712283 121712283 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:121712283G>A ENST00000273691.3 - 6 1286 c.1181C>T c.(1180-1182)cCt>cTt p.P394L ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.P406L|ILDR1_ENST00000344209.5_Missense_Mutation_p.P438L|ILDR1_ENST00000393631.1_Missense_Mutation_p.P349L NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 438 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) GCTCCTGAAAGGAGGGTGGCT 0.662000 5 30 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31273112 31273112 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:31273112G>A ENST00000544665.3 + 2 199 c.128G>A c.(127-129)gGa>gAa p.G43E ITGAM_ENST00000287497.8_Missense_Mutation_p.G43E NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 43 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CAGCTTCAGGGATCCAGGTGA 0.488000 4 16 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89653814 89653814 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:89653814C>T ENST00000371953.3 + 2 1469 c.112C>T c.(112-114)Cct>Tct p.P38S NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 38 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(8)|p.P38S(5)|p.Y27fs*1(2) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATGGGATTTCCTGCAGAAAG 0.284000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 14 32 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30011131 30011131 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:30011131C>T ENST00000346128.6 - 21 3689 c.3215G>A c.(3214-3216)cGa>cAa p.R1072Q TJP1_ENST00000545208.2_Missense_Mutation_p.R992Q|TJP1_ENST00000400011.2_Missense_Mutation_p.R996Q|TJP1_ENST00000356107.6_Missense_Mutation_p.R1072Q NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1072 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TTCATAGTTTCGAGAAAACTG 0.488000 31 149 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55962486 55962486 + Nonsense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:55962486G>A ENST00000263923.4 - 19 2933 c.2638C>T c.(2638-2640)Cga>Tga p.R880* NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 880 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ATGAGAGCTCGATGCTCACTG 0.458000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 23 15 0 0 1 0 0 MCCC2 64087 broad.mit.edu 37 5 70900256 70900256 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:70900256C>T ENST00000340941.6 + 6 714 c.585C>T c.(583-585)ttC>ttT p.F195F MCCC2_ENST00000323375.8_Silent_p.F195F|MCCC2_ENST00000509358.2_Silent_p.F195F|MCCC2_ENST00000510895.2_3'UTR NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 195 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) GCCGTACATTCTATAATCAGG 0.363000 24 38 0 0 1 0 0 DEFA6 1671 broad.mit.edu 37 8 6782433 6782433 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:6782433G>A ENST00000297436.2 - 2 250 c.210C>T c.(208-210)ttC>ttT p.F70F NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 70 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) AATGGCAAGTGAAAGCCCTTG 0.493000 13 20 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4924567 4924567 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:4924567C>T ENST00000396658.4 + 14 2859 c.2156C>T c.(2155-2157)gCg>gTg p.A719V UBN1_ENST00000545171.1_Missense_Mutation_p.A719V|UBN1_ENST00000262376.6_Missense_Mutation_p.A719V|UBN1_ENST00000590769.1_Missense_Mutation_p.A719V NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 719 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 AGGAACTTTGCGAAGCCTAGT 0.517000 125 239 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56581467 56581467 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:56581467G>A ENST00000323456.5 - 14 1724 c.1600C>T c.(1600-1602)Ctt>Ttt p.L534F MTMR4_ENST00000579925.1_Intron NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 534 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCAGCTCGAAGGAGCGCCCAC 0.512000 30 132 0 0 1 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47076519 47076519 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:47076519C>T ENST00000290341.3 + 2 558 c.224C>T c.(223-225)cCc>cTc p.P75L IGF2BP1_ENST00000431824.2_Missense_Mutation_p.P75L|IGF2BP1_ENST00000515586.1_3'UTR NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 75 RRM 1. 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 CATTCGGTGCCCAAAAAACAA 0.493000 20 33 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541612 133541612 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:133541612C>T ENST00000409261.1 - 14 3145 c.2772G>A c.(2770-2772)gtG>gtA p.V924V NCKAP5_ENST00000317721.6_Silent_p.V924V|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 924 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AAGGGGATTTCACCCCTGCCT 0.622000 16 51 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46099262 46099262 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:46099262G>A ENST00000295452.4 - 2 376 c.209C>T c.(208-210)tCa>tTa p.S70L NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 70 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.S70L(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTGAAGCAATGAATTCAGAAT 0.383000 12 79 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538936 55538936 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:55538936G>A ENST00000220676.1 + 4 2642 c.2494G>A c.(2494-2496)Gat>Aat p.D832N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 832 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAAACCCAAAGATTTTTATGC 0.328000 5 69 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133547743 133547743 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:133547743G>A ENST00000409261.1 - 13 1318 c.945C>T c.(943-945)tgC>tgT p.C315C NCKAP5_ENST00000317721.6_Silent_p.C315C|NCKAP5_ENST00000409213.1_Silent_p.C315C|NCKAP5_ENST00000405974.3_Silent_p.C315C NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 315 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CCAAGCCAGGGCATTTCAAGG 0.493000 8 18 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563733 176563733 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:176563733G>A ENST00000367662.3 + 3 2157 c.993G>A c.(991-993)aaG>aaA p.K331K PAPPA2_ENST00000367661.3_Silent_p.K331K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 331 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGAAGGACAAGGGAAAGCGGG 0.552000 18 52 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074848 9074848 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9074848G>A ENST00000397910.4 - 3 12801 c.12598C>T c.(12598-12600)Ctg>Ttg p.L4200L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4202 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 GTCTTCCCCAGGCCAGAGGTC 0.498000 15 30 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653921 159653921 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:159653921G>A ENST00000297267.9 + 11 2577 c.2377G>A c.(2377-2379)Gat>Aat p.D793N FNDC1_ENST00000340366.6_Missense_Mutation_p.D730N NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 793 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGGTGACGGCGATAGGGAAGA 0.632000 3 22 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25336983 25336983 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:25336983G>A ENST00000546682.1 + 0 969 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-23_ENST00000384645.1_RNA NR_003361.1 TGAACAAAATGAGTGAAAACT 0.473000 57 102 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59157865 59157865 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:59157865G>A ENST00000262717.4 + 2 477 c.79G>A c.(79-81)Gac>Aac p.D27N CDH20_ENST00000538374.1_Missense_Mutation_p.D27N|CDH20_ENST00000536675.2_Missense_Mutation_p.D27N Q9HBT6 CAD20_HUMAN cadherin 20, type 2 27 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GGGGCTGATGGACCTTACGAC 0.512000 51 38 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58147080 58147080 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:58147080G>A ENST00000184956.6 - 7 947 c.931C>T c.(931-933)Cca>Tca p.P311S HEATR6_ENST00000585976.1_Missense_Mutation_p.P311S NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 311 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) ACCAAAGTTGGTCGAGAAGCA 0.383000 30 45 0 0 1 0 0 HUS1B 135458 broad.mit.edu 37 6 656649 656649 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:656649G>A ENST00000380907.2 - 1 314 c.296C>T c.(295-297)tCc>tTc p.S99F EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 99 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) CAGCTTCAGGGAGGACGCGCC 0.682000 19 15 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149924334 149924334 + Silent SNP T T G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:149924334T>G ENST00000445323.2 + 15 1975 c.1854T>G c.(1852-1854)ccT>ccG p.P618P MTMR1_ENST00000370390.3_Silent_p.P610P|MTMR1_ENST00000544228.1_Silent_p.P610P|MTMR1_ENST00000541925.1_Silent_p.P516P|MTMR1_ENST00000538506.1_3'UTR Q13613 MTMR1_HUMAN myotubularin related protein 1 610 plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGATGAGACCTCAGGTATCTT 0.338000 23 16 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3594308 3594308 + RNA SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:3594308C>T ENST00000301749.7 - 0 3198 NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTCCGTCATCCCCGATGGCGT 0.592000 13 36 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28116278 28116278 + Missense_Mutation SNP A A C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:28116278A>C ENST00000263181.6 - 3 685 c.395T>G c.(394-396)gTg>gGg p.V132G NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 132 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TAGATACATCACTCCAGGTTC 0.403000 23 55 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113353089 113353089 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:113353089G>A ENST00000458497.1 + 11 2665 c.2386G>A c.(2386-2388)Gaa>Aaa p.E796K ALPK1_ENST00000504176.2_Missense_Mutation_p.E718K|ALPK1_ENST00000177648.9_Missense_Mutation_p.E796K NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 796 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AGAAAGCACTGAAGATGCACC 0.483000 9 45 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10436868 10436868 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:10436868G>A ENST00000245503.5 - 20 2646 c.2262C>T c.(2260-2262)tcC>tcT p.S754S CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.S754S|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 754 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(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAATGTCGATGGATGCAAGGA 0.408000 51 63 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103124627 103124627 + Nonsense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:103124627C>T ENST00000295269.4 + 5 1745 c.1288C>T c.(1288-1290)Cga>Tga p.R430* NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 430 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CAGTGGTGTTCGAGGAGCTGG 0.413000 20 74 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103244823 103244823 + Missense_Mutation SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:103244823C>A ENST00000428762.1 - 23 3275 c.3116G>T c.(3115-3117)gGg>gTg p.G1039V RELN_ENST00000343529.5_Missense_Mutation_p.G1039V|RELN_ENST00000424685.2_Missense_Mutation_p.G1039V NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1039 EGF-like 2. 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) TGAGCCATGCCCACTGCACAT 0.532000 36 62 2.09667e-21 2.15589e-21 1 1 0 PITPNM2 57605 broad.mit.edu 37 12 123475205 123475205 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:123475205G>A ENST00000280562.5 - 17 2805 c.2600C>T c.(2599-2601)tCc>tTc p.S867F PITPNM2_ENST00000320201.4_Missense_Mutation_p.S819F|PITPNM2_ENST00000542749.1_Missense_Mutation_p.S819F|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S540F Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 819 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GCCCGGCGAGGAGGGGGCGCC 0.662000 18 43 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114278424 114278424 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:114278424G>A ENST00000357077.4 + 38 8703 c.8650G>A c.(8650-8652)Gag>Aag p.E2884K ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2851K|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2851 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGAAACATTTGAGAACTTACC 0.393000 6 162 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71114944 71114944 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:71114944C>T ENST00000304954.3 + 4 403 c.317C>T c.(316-318)aCt>aTt p.T106I NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 106 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 CACCCACCCACTGTGGTACGT 0.463000 37 20 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503257 140503257 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140503257C>T ENST00000194152.1 + 1 1677 c.1677C>T c.(1675-1677)ttC>ttT p.F559F NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 559 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCCCTTCGTGCTGTACC 0.701000 60 86 0 0 1 0 0 FIS1 51024 broad.mit.edu 37 7 100884135 100884135 + Missense_Mutation SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:100884135C>A ENST00000474120.1 - 2 474 c.67G>T c.(67-69)Ggc>Tgc p.G23C FIS1_ENST00000482199.1_5'UTR|FIS1_ENST00000223136.4_Silent_p.L77L|FIS1_ENST00000442303.1_Missense_Mutation_p.G54C Q9Y3D6 FIS1_HUMAN fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) 0 apoptosis|mitochondrial fission|peroxisome fission integral to mitochondrial outer membrane|integral to peroxisomal membrane protein binding kidney(1)|large_intestine(2)|lung(1) 4 Lung NSC(181;0.168)|all_lung(186;0.215) TCCCCACGGCCAGGTAGAAGA 0.592000 41 92 3.61848e-18 3.71021e-18 1 1 0 CFHR2 3080 broad.mit.edu 37 1 196927145 196927145 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:196927145G>A ENST00000367415.4 + 4 669 c.555G>A c.(553-555)gaG>gaA p.E185E CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.E185E NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 185 Sushi 3. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 ATCAACTTGAGGGTAACAATC 0.388000 88 62 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101375261 101375261 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:101375261C>T ENST00000344327.3 - 2 863 c.439G>A c.(439-441)Gaa>Aaa p.E147K TRPC6_ENST00000532133.1_Missense_Mutation_p.E147K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E147K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E147K NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 147 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) TCTGTAATTTCCAGATGCTCA 0.443000 27 29 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124810371 124810371 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:124810371C>T ENST00000423114.2 - 12 1919 c.1920G>A c.(1918-1920)gtG>gtA p.V640V SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000393469.4_Silent_p.V611V|SLC12A8_ENST00000469902.1_Silent_p.V611V|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Silent_p.V412V A0AV02 S12A8_HUMAN solute carrier family 12, member 8 611 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CCCACTGTATCACAAACATGA 0.483000 6 76 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113421156 113421156 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:113421156G>A ENST00000297405.5 - 33 5745 c.5501C>T c.(5500-5502)tCc>tTc p.S1834F CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1730F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1794F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1834 CUB 10. 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 ACCTGAATGGGATCCTGAGAG 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 163 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123489977 123489977 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:123489977G>A ENST00000280562.5 - 6 967 c.762C>T c.(760-762)tcC>tcT p.S254S PITPNM2_ENST00000320201.4_Silent_p.S254S|PITPNM2_ENST00000542749.1_Silent_p.S254S|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Silent_p.S254S|PITPNM2_ENST00000451868.2_5'UTR Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 254 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CCATCTTACGGGAAAGCATGA 0.632000 39 181 0 0 1 0 0 LELP1 149018 broad.mit.edu 37 1 153177316 153177316 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:153177316G>A ENST00000368747.1 + 2 243 c.133G>A c.(133-135)Gaa>Aaa p.E45K NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 45 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACGCTGTTTCGAAAAGTGCCC 0.572000 125 77 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101472 168101472 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:168101472G>A ENST00000409195.1 + 9 3659 c.3570G>A c.(3568-3570)atG>atA p.M1190I XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M968I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M1190I NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1015 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 CTGTTGAAATGGATATACAAG 0.368000 34 38 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10451190 10451190 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:10451190G>A ENST00000245503.5 - 3 432 c.48C>T c.(46-48)ttC>ttT p.F16F CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.F16F|MYH2_ENST00000532183.1_Silent_p.F16F NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 16 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(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACTTTCGGAGGAAAGGAGCAG 0.478000 31 43 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14976520 14976520 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:14976520C>T ENST00000287667.7 + 26 3268 c.3097C>T c.(3097-3099)Cat>Tat p.H1033Y NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1033 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 GCTCCCCCACCATAGGGTGAT 0.577000 48 141 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976794 4976794 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:4976794G>A ENST00000380371.1 - 1 149 c.150C>T c.(148-150)atC>atT p.I50I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 50 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) CTGTCTTGATGATAAAAAGAA 0.443000 13 17 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124749841 124749841 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:124749841G>A ENST00000397801.1 + 26 4147 c.3955G>A c.(3955-3957)Gat>Aat p.D1319N ROBO3_ENST00000538940.1_Missense_Mutation_p.D1297N|ROBO3_ENST00000543966.1_Missense_Mutation_p.D82N|ROBO3_ENST00000525482.1_3'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1319 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GCTCCACCCAGATGGTAAGCA 0.672000 5 2 0 0 1 0 0 GBP3 2635 broad.mit.edu 37 1 89478911 89478911 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:89478911G>A ENST00000370481.4 - 6 1045 c.825C>T c.(823-825)tcC>tcT p.S275S NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 275 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TTTTAGTTTTGGAATTGCTAA 0.448000 23 99 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12950814 12950814 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:12950814G>A ENST00000273221.4 - 11 2795 c.2579C>T c.(2578-2580)tCc>tTc p.S860F NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 860 PH. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TTCCGCAATGGACTCCCGCAG 0.537000 21 115 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58240811 58240811 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:58240811G>A ENST00000377918.3 + 3 2667 c.2641G>A c.(2641-2643)Gac>Aac p.D881N NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 881 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CACGTTTAAGGACCCAGAAAG 0.443000 25 17 0 0 1 0 0 ADRA1B 147 broad.mit.edu 37 5 159344483 159344483 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:159344483G>A ENST00000306675.3 + 1 694 c.571G>A c.(571-573)Gat>Aat p.D191N NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 191 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) GGCACCCAACGATGACAAGGA 0.592000 15 53 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56207499 56207499 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:56207499G>A ENST00000288221.6 - 4 1379 c.1124C>T c.(1123-1125)gCt>gTt p.A375V NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 375 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) AGTCTGGAGAGCCTTCGTCTT 0.473000 13 62 0 0 1 0 0 GPR6 2830 broad.mit.edu 37 6 110300902 110300902 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:110300902C>T ENST00000414000.2 + 3 871 c.632C>T c.(631-633)tCc>tTc p.S211F GPR6_ENST00000275169.3_Missense_Mutation_p.S196F P46095 GPR6_HUMAN G protein-coupled receptor 6 196 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) TGGACCGTGTCCCTAGGCCTG 0.697000 8 30 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332756 70332756 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:70332756G>A ENST00000338508.4 - 32 3644 c.3645C>T c.(3643-3645)tcC>tcT p.S1215S SHANK2_ENST00000449833.2_Silent_p.S619S|SHANK2_ENST00000409161.1_Silent_p.S618S|SHANK2_ENST00000423696.2_Silent_p.S835S Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 835 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGGCCAGCGGGGAGCTGGGAT 0.667000 40 34 0 0 1 0 0 STARD6 147323 broad.mit.edu 37 18 51855781 51855781 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:51855781G>A ENST00000581310.1 - 8 788 c.415C>T c.(415-417)Cca>Tca p.P139S STARD6_ENST00000580990.2_Intron|STARD6_ENST00000307844.3_Missense_Mutation_p.P139S P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 139 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) TTTGAAGATGGAGGATATTCT 0.318000 84 57 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79034487 79034487 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:79034487G>A ENST00000446378.2 + 2 9930 c.9899G>A c.(9898-9900)gGt>gAt p.G3300D NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3300 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAACAGAAAGGTGTTTATGGG 0.478000 30 108 0 0 1 0 0 ASGR2 433 broad.mit.edu 37 17 7010461 7010461 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:7010461C>T ENST00000380952.2 - 7 785 c.521G>A c.(520-522)aGg>aAg p.R174K ASGR2_ENST00000355035.5_Missense_Mutation_p.R174K|ASGR2_ENST00000446679.2_Missense_Mutation_p.R155K|ASGR2_ENST00000254850.7_Missense_Mutation_p.R150K NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172.1|NP_001188281.1|NP_550434.1 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 174 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) GCAGCAGGTCCTTTGGGAGCC 0.662000 26 64 0 0 1 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149003640 149003640 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:149003640G>A ENST00000333677.6 + 10 1564 c.1401G>A c.(1399-1401)acG>acA p.T467T NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 467 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TGGGCCGGACGAGTAACCAGC 0.582000 24 41 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64779313 64779313 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:64779313C>T ENST00000422803.1 + 2 1019 c.705C>T c.(703-705)gcC>gcT p.A235A AFTPH_ENST00000238856.4_Silent_p.A235A|AFTPH_ENST00000238855.7_Silent_p.A235A|AFTPH_ENST00000409933.1_Silent_p.A235A Q6ULP2 AFTIN_HUMAN aftiphilin 235 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 CAGATTTTGCCACATTTTCCA 0.358000 14 39 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183474319 183474319 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:183474319C>T ENST00000305135.5 + 12 1589 c.1394C>T c.(1393-1395)tCc>tTc p.S465F NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 465 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TAATAAGGTTCCCCAATATCA 0.448000 74 57 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50916399 50916399 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:50916399G>A ENST00000313478.7 - 12 1685 c.1404C>T c.(1402-1404)ttC>ttT p.F468F TRPM7_ENST00000560955.1_Silent_p.F468F NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 468 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GAATGGTAAGGAATTTATGCA 0.338000 13 19 0 0 1 0 0 CMTM4 146223 broad.mit.edu 37 16 66657376 66657376 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:66657376G>A ENST00000330687.4 - 3 574 c.393C>T c.(391-393)ttC>ttT p.F131F CMTM4_ENST00000563952.1_Silent_p.F102F|CMTM4_ENST00000394106.2_Silent_p.F131F NM_178818.2|NM_181521.2 NP_848933.1|NP_852662.1 Q8IZR5 CKLF4_HUMAN CKLF-like MARVEL transmembrane domain containing 4 131 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214) TAAAGAAAAGGAAAGCGCTGA 0.423000 10 30 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133494362 133494362 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:133494362G>A ENST00000402696.3 + 15 2258 c.1773G>A c.(1771-1773)gaG>gaA p.E591E TF_ENST00000264998.3_Silent_p.E464E NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 591 Transferrin-like 2. E -> Q (in Ref. 12; AA sequence). cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AACCTGTGGAGGAGTATGCGA 0.498000 25 215 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834450 125834450 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:125834450G>A ENST00000299308.3 + 2 513 c.505G>A c.(505-507)Gaa>Aaa p.E169K TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 169 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGAGGCCAGGGAAGTGGCAGC 0.592000 44 89 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558506 129558506 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:129558506C>T ENST00000422113.2 - 9 3540 c.3214G>A c.(3214-3216)Gac>Aac p.D1072N TMEM132D_ENST00000389441.4_Missense_Mutation_p.D610N NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1072 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CACTTAATGTCATCCTCGCTA 0.498000 36 103 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126544706 126544706 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:126544706G>A ENST00000339582.2 - 4 1567 c.759C>T c.(757-759)atC>atT p.I253I GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.I253I|GRM8_ENST00000405249.1_Silent_p.I253I|GRM8_ENST00000358373.3_Silent_p.I253I O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 253 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTTCACGTGGGATTTTCTGTG 0.388000 HNSCC(24;0.065) 42 55 0 0 1 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149006 142149006 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:142149006G>A ENST00000390372.3 - 0 271 CTATAGTTAGGGAACTGGCGA 0.527000 72 132 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539808 56539808 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:56539808C>T ENST00000390649.3 + 7 2209 c.2209C>T c.(2209-2211)Cgg>Tgg p.R737W NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 737 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCGGAAAATTCGGGTGGATGT 0.498000 66 127 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137485338 137485338 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:137485338G>A ENST00000254900.5 - 23 3640 c.3269C>T c.(3268-3270)tCc>tTc p.S1090F NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1090 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAGCTTTGAGGAGGTAGCATG 0.408000 15 23 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121994742 121994742 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:121994742G>A ENST00000498619.1 + 5 1899 c.1461G>A c.(1459-1461)ggG>ggA p.G487G CASR_ENST00000490131.1_Silent_p.G487G|CASR_ENST00000296154.5_Silent_p.G487G NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 487 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) ACCTGGTGGGGAACTATTCCA 0.488000 72 50 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101728986 101728986 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:101728986G>A ENST00000342239.3 - 3 245 c.154C>T c.(154-156)Ccc>Tcc p.P52S DNMBP_ENST00000324109.4_Missense_Mutation_p.P52S Q6XZF7 DNMBP_HUMAN dynamin binding protein 52 SH3 1. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AAACTGCTGGGGAATTGTCCT 0.373000 14 15 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112786338 112786338 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:112786338G>A ENST00000295408.4 + 19 3154 c.2897G>A c.(2896-2898)gGg>gAg p.G966E MERTK_ENST00000409780.1_Missense_Mutation_p.G790E|MERTK_ENST00000421804.2_Missense_Mutation_p.G966E Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 966 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity p.G966V(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GTTAGGAATGGGGTCTCCTGG 0.537000 10 51 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39486953 39486953 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:39486953G>A ENST00000265707.5 + 7 628 c.583G>A c.(583-585)Gct>Act p.A195T ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.A195T NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 195 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AGTGGAAAAAGCTTTGGTAAG 0.318000 6 17 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39577167 39577167 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:39577167C>T ENST00000225550.3 - 7 1312 c.1313G>A c.(1312-1314)gGg>gAg p.G438E AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 438 Tail. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) AGAGGGAGACCCACCGGTGAC 0.572000 10 32 0 0 1 0 0 GPR87 53836 broad.mit.edu 37 3 151012942 151012942 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:151012942C>T ENST00000260843.4 - 3 556 c.92G>A c.(91-93)gGa>gAa p.G31E MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 31 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGTGTTCTTTCCTGGCCCGTC 0.483000 12 82 0 0 1 0 0 IGHE 3497 broad.mit.edu 37 14 106067895 106067895 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:106067895G>A ENST00000390540.2 - 0 490 TGAGGGTGGTGGCTGGTAAGG 0.627000 12 87 0 0 1 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16855866 16855866 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:16855866C>T ENST00000261652.2 - 2 105 c.93G>A c.(91-93)atG>atA p.M31I TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.M31I|TNFRSF13B_ENST00000583789.1_Intron|TNFRSF13B_ENST00000581616.2_5'UTR NM_012452.2 NP_036584.1 O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 31 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity p.M31I(1) endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 GGCAGGATCTCATAGCCACCC 0.617000 IgA Deficiency, Selective 29 37 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166003504 166003504 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:166003504G>A ENST00000360093.3 - 12 1907 c.1416C>T c.(1414-1416)ttC>ttT p.F472F SCN3A_ENST00000283254.7_Silent_p.F472F|SCN3A_ENST00000409101.3_Silent_p.F472F NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 472 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CTATTCCACTGAAATCTCTTG 0.423000 47 54 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58722937 58722937 + Silent SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:58722937C>A ENST00000326804.4 + 8 1320 c.861C>A c.(859-861)acC>acA p.T287T ZNF274_ENST00000424679.2_Silent_p.T182T|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.T255T NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 288 KRAB 2. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) AGCCAGTGACCTTCCAGGATG 0.582000 65 196 8.3131e-28 8.57215e-28 1 1 0 CR1L 1379 broad.mit.edu 37 1 207890896 207890896 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:207890896C>T ENST00000508064.2 + 11 1562 c.1502C>T c.(1501-1503)tCt>tTt p.S501F NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 501 Sushi 8. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AAAGAAGTATCTTACACATGT 0.483000 32 154 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61615955 61615955 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:61615955C>T ENST00000583023.1 + 8 1897 c.1886C>T c.(1885-1887)tCc>tTc p.S629F KCNH6_ENST00000314672.5_Missense_Mutation_p.S629F|KCNH6_ENST00000456941.2_Missense_Mutation_p.S576F|KCNH6_ENST00000581784.1_Missense_Mutation_p.S576F NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 629 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GACGTGCTCTCCACCCTCTAC 0.682000 20 22 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63417109 63417109 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:63417109C>T ENST00000322893.7 - 7 1379 c.1111G>A c.(1111-1113)Gga>Aga p.G371R KCNH5_ENST00000420622.2_Missense_Mutation_p.G371R|KCNH5_ENST00000394968.1_Missense_Mutation_p.G313R|KCNH5_ENST00000394964.2_Missense_Mutation_p.G313R NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 371 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TCGTAGTCTCCGATGCTATAC 0.502000 17 65 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36724045 36724045 + Nonsense_Mutation SNP T T A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:36724045T>A ENST00000244751.2 - 13 1510 c.886A>T c.(886-888)Aag>Tag p.K296* CPNE5_ENST00000393189.2_Nonsense_Mutation_p.K4*|CPNE5_ENST00000459703.1_5'UTR NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 296 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 ACGTATTTCTTTTTCTTCATT 0.517000 6 17 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83126513 83126513 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:83126513C>T ENST00000329312.4 + 3 149 c.112C>T c.(112-114)Ccc>Tcc p.P38S NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 38 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TTTGACATTTCCCAAACCACT 0.299000 20 13 0 0 1 0 0 PROCR 10544 broad.mit.edu 37 20 33764077 33764077 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:33764077C>T ENST00000216968.4 + 3 511 c.429C>T c.(427-429)ttC>ttT p.F143F EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 143 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) TTGTGAGTTTCCGGCCGGAGA 0.602000 43 140 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77700274 77700274 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:77700274C>T ENST00000296043.6 + 11 6888 c.5935C>T c.(5935-5937)Cct>Tct p.P1979S RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1979 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGAGCCCATTCCTGCTGGGGG 0.517000 9 83 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57059626 57059626 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:57059626C>T ENST00000436936.1 + 6 996 c.771C>T c.(769-771)ttC>ttT p.F257F NLRC5_ENST00000308149.7_Silent_p.F257F|NLRC5_ENST00000539144.1_Silent_p.F257F|NLRC5_ENST00000262510.6_Silent_p.F257F Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 257 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AGGCCCTGTTCCTTTTTGAAT 0.577000 48 102 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 63957983 63957983 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:63957983G>A ENST00000373789.3 - 12 1610 c.1514C>T c.(1513-1515)cCc>cTc p.P505L RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 505 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) AGGAGGAAGGGGAGCTTGTCT 0.398000 64 61 0 0 1 0 0 ELMOD1 55531 broad.mit.edu 37 11 107506466 107506466 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:107506466C>T ENST00000265840.7 + 6 660 c.395C>T c.(394-396)cCc>cTc p.P132L ELMOD1_ENST00000531234.1_Missense_Mutation_p.P126L|ELMOD1_ENST00000443271.2_Missense_Mutation_p.P132L NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 132 phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) TCTGATAATCCCCAACATGAA 0.458000 4 21 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6204140 6204140 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:6204140G>A ENST00000262450.3 - 12 1977 c.1878C>T c.(1876-1878)atC>atT p.I626I CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 626 Chromo 2. 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) CGATGTCATCGATCTCCCAGG 0.592000 69 79 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39330257 39330257 + Missense_Mutation SNP G G C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:39330257G>C ENST00000287152.7 - 17 1993 c.1899C>G c.(1897-1899)gaC>gaG p.D633E KIF6_ENST00000373215.3_Missense_Mutation_p.D616E|KIF6_ENST00000373213.4_Missense_Mutation_p.D472E|KIF6_ENST00000541946.1_Missense_Mutation_p.D84E|KIF6_ENST00000394362.1_Missense_Mutation_p.D84E|KIF6_ENST00000538893.1_Missense_Mutation_p.D577E|KIF6_ENST00000229913.5_Missense_Mutation_p.D84E|KIF6_ENST00000373216.3_Missense_Mutation_p.D633E NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 633 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CCTCCTGCTGGTCTGGCATCA 0.522000 OREG0017415 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 93 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488439 108488439 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:108488439G>A ENST00000408999.3 + 20 4056 c.3979G>A c.(3979-3981)Gaa>Aaa p.E1327K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1327K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1327 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TGTTACTCAAGAAGAAGAGAG 0.393000 116 137 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97771850 97771850 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:97771850G>A ENST00000370192.3 - 17 2162 c.2062C>T c.(2062-2064)Cca>Tca p.P688S DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 688 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ACCAGCTCTGGATCCTGTTCA 0.433000 25 97 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123260486 123260486 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:123260486C>T ENST00000264501.4 + 72 12648 c.12275C>T c.(12274-12276)cCt>cTt p.P4092L KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4092L Q2LD37 K1109_HUMAN KIAA1109 4092 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ACTACATATCCTGCAGAGACT 0.413000 11 68 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476315 140476315 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140476315G>A ENST00000194155.4 + 1 2089 c.1941G>A c.(1939-1941)aaG>aaA p.K647K NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 647 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTGGTCAAGGACAATGGCG 0.716000 21 82 0 0 1 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48142308 48142308 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:48142308C>T ENST00000405493.2 - 12 1255 c.1046G>A c.(1045-1047)gGc>gAc p.G349D RAPGEF3_ENST00000171000.4_Missense_Mutation_p.G349D|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.G391D|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.G349D|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.G391D|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.G391D|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.G349D NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 349 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) CTCTGGGGTGCCAGACATCAC 0.517000 11 21 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28914146 28914146 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:28914146G>A ENST00000257192.4 + 8 1198 c.986G>A c.(985-987)gGa>gAa p.G329E NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 329 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ACAAATGTGGGAATTTTAAAG 0.274000 9 44 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58121392 58121392 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:58121392G>A ENST00000184956.6 - 20 3094 c.3078C>T c.(3076-3078)gtC>gtT p.V1026V HEATR6_ENST00000585976.1_Silent_p.V914V NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 1026 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TCTTCCCCGGGACGGAAAGGG 0.532000 29 116 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124335454 124335454 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:124335454C>T ENST00000409039.3 + 34 5793 c.5768C>T c.(5767-5769)tCc>tTc p.S1923F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1923 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) CAGGAGATTTCCCTGGACTCC 0.632000 15 31 0 0 1 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805938 20805938 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:20805938G>A ENST00000577537.1 + 0 1122 RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA TTCCCGGTCAGAAAGACCCCG 0.592000 5 36 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1551673 1551673 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:1551673C>T ENST00000262319.6 + 11 1650 c.1371C>T c.(1369-1371)ctC>ctT p.L457L NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 457 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GCACGTCCCTCGTTCCAGCCA 0.607000 28 64 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966551 41966551 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:41966551G>A ENST00000298919.7 + 10 1578 c.1190G>A c.(1189-1191)gGg>gAg p.G397E PDZRN4_ENST00000539469.2_Missense_Mutation_p.G399E|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G657E Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 657 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGCAATCAAGGGGAGCAAGAG 0.448000 13 80 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3224645 3224645 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:3224645G>A ENST00000520002.1 - 21 3582 c.3027C>T c.(3025-3027)atC>atT p.I1009I CSMD1_ENST00000602723.1_Silent_p.I1009I|CSMD1_ENST00000400186.3_Silent_p.I1009I|CSMD1_ENST00000602557.1_Silent_p.I1009I|CSMD1_ENST00000542608.1_Silent_p.I1008I|CSMD1_ENST00000539096.1_Silent_p.I1008I|CSMD1_ENST00000537824.1_Silent_p.I1008I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1009 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGCCTGCCTTGATCGTATGAG 0.478000 3 15 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57515255 57515255 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:57515255C>T ENST00000374900.4 + 11 1609 c.1489C>T c.(1489-1491)Cct>Tct p.P497S FAAH2_ENST00000491179.1_3'UTR NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 497 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CAAAGGACTCCCTTTAGGCAT 0.507000 HNSCC(52;0.14) 13 19 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32074047 32074047 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:32074047C>T ENST00000438447.1 + 18 3223 c.2835C>T c.(2833-2835)ctC>ctT p.L945L PDZD2_ENST00000282493.3_Silent_p.L945L O15018 PDZD2_HUMAN PDZ domain containing 2 945 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAGCCAGTCTCCCCGGAAGCC 0.592000 38 81 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31039935 31039935 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:31039935G>A ENST00000355537.3 + 4 3556 c.3409G>A c.(3409-3411)Gga>Aga p.G1137R NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGAGCCTGATGGAAAGGCCCA 0.517000 28 42 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42808403 42808403 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:42808403C>T ENST00000514985.1 - 2 309 c.53G>A c.(52-54)gGa>gAa p.G18E SEPP1_ENST00000507920.1_Missense_Mutation_p.G18E|SEPP1_ENST00000506577.1_Missense_Mutation_p.G18E|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.G18E NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 18 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 GCTCTCTGTTCCTCCCGATGG 0.512000 40 13 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151716751 151716751 + Missense_Mutation SNP G G T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:151716751G>T ENST00000392800.2 + 9 1451 c.1197G>T c.(1195-1197)aaG>aaT p.K399N GALNTL5_ENST00000431418.2_Missense_Mutation_p.K399N NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 399 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TTCTTCGAAAGCCTGGTCTGA 0.378000 35 59 1.57019e-19 1.61227e-19 1 1 0 ZMYND11 10771 broad.mit.edu 37 10 226028 226028 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:226028C>T ENST00000397962.3 + 2 504 c.76C>T c.(76-78)Cgg>Tgg p.R26W ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.R26W|ZMYND11_ENST00000381591.1_Missense_Mutation_p.R26W|ZMYND11_ENST00000602682.1_Missense_Mutation_p.R26W|ZMYND11_ENST00000397959.3_Missense_Mutation_p.R26W|ZMYND11_ENST00000558098.2_Missense_Mutation_p.R26W|ZMYND11_ENST00000509513.2_Missense_Mutation_p.R26W|ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000403354.1_Missense_Mutation_p.R26W|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000309776.4_5'UTR Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 486 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGAGATTATACGGAACCAGAA 0.403000 3 61 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685886 125685886 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:125685886C>T ENST00000371126.1 - 1 948 c.706G>A c.(706-708)Gag>Aag p.E236K NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 236 p.E236*(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AGACCCACCTCGCTATGCCAG 0.652000 32 27 0 0 1 0 0 AK5 26289 broad.mit.edu 37 1 77987611 77987611 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:77987611G>A ENST00000344720.5 + 12 2359 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K AK5_ENST00000354567.2_Missense_Mutation_p.E471K NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 471 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 GAAGCAAGGGGAAGAGTTCGG 0.542000 14 21 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31901648 31901648 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:31901648C>T ENST00000556679.1 + 4 490 c.435C>T c.(433-435)ccC>ccT p.P145P CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Silent_p.P84P|C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Silent_p.P75P|C2_ENST00000418949.2_Silent_p.P207P|CFB_ENST00000456570.1_Silent_p.P145P|C2_ENST00000299367.5_Silent_p.P207P P00751 CFAB_HUMAN complement factor B 221 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CCACAGAACCCTACTCTTATG 0.632000 44 55 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011054 105011054 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:105011054C>T ENST00000372582.1 + 11 2217 c.1461C>T c.(1459-1461)ttC>ttT p.F487F IL1RAPL2_ENST00000538500.1_Silent_p.F92F|IL1RAPL2_ENST00000344799.4_Silent_p.F487F NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 487 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGAGTATTTTCGAACTGGAAA 0.388000 39 22 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66259558 66259558 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:66259558C>T ENST00000405643.1 + 2 449 c.71C>T c.(70-72)cCa>cTa p.P24L MAST4_ENST00000406374.1_Intron|MAST4_ENST00000403666.1_Intron|MAST4_ENST00000403625.2_Intron|MAST4_ENST00000490016.2_Intron|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000406039.1_Intron|MAST4_ENST00000407621.1_Missense_Mutation_p.P24L O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1296 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGCCTGAGTCCAACCCCATCC 0.493000 13 89 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640452 57640452 + Missense_Mutation SNP A A G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:57640452A>G ENST00000254181.4 + 4 863 c.409A>G c.(409-411)Att>Gtt p.I137V USP29_ENST00000598197.1_Missense_Mutation_p.I137V NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 137 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATTTTACAGCATTTGTAACAA 0.373000 15 49 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17409101 17409101 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:17409101G>A ENST00000375486.4 - 10 1160 c.1097C>T c.(1096-1098)cCc>cTc p.P366L PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.P250L|PADI2_ENST00000375481.1_Missense_Mutation_p.P366L NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 366 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CAGCACCACGGGGAAGCCTTT 0.547000 23 46 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46996743 46996743 + Missense_Mutation SNP C C A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:46996743C>A ENST00000371253.2 - 2 270 c.55G>T c.(55-57)Ggt>Tgt p.G19C GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.G19C NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 19 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 AGGAAGCCACCGTGGCCGTCA 0.512000 52 66 3.76343e-11 3.848e-11 1 1 0 CLRN3 119467 broad.mit.edu 37 10 129681983 129681983 + Missense_Mutation SNP A A C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:129681983A>C ENST00000368671.3 - 2 548 c.386T>G c.(385-387)gTg>gGg p.V129G NM_152311.3 NP_689524.1 Q8NCR9 CLRN3_HUMAN clarin 3 129 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) CCAGGTGTACACCCCCGTCGG 0.572000 22 22 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140729878 140729878 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140729878C>T ENST00000523390.1 + 1 51 c.51C>T c.(49-51)ccC>ccT p.P17P PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACTGTTTCCCTTCCTGCTGT 0.522000 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 20 0 0 1 0 0 TMEM189 387521 broad.mit.edu 37 20 48699376 48699376 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:48699376G>A ENST00000557021.1 - 8 1202 c.1042C>T c.(1042-1044)Cgg>Tgg p.R348W UBE2V1_ENST00000340309.3_Missense_Mutation_p.R148W|UBE2V1_ENST00000371657.5_Missense_Mutation_p.R83W|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R148W|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R348W|UBE2V1_ENST00000420027.2_Missense_Mutation_p.R81W|UBE2V1_ENST00000415862.2_Missense_Mutation_p.R81W|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000371674.3_Missense_Mutation_p.R125W NM_199203.2 NP_954673.1 transmembrane protein 189 breast(1)|endometrium(2)|large_intestine(3)|lung(2) 8 BRCA - Breast invasive adenocarcinoma(9;3.02e-07) ATTAGGCGCCGAAGCTCTTGC 0.443000 24 124 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3299597 3299597 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:3299597C>T ENST00000219596.1 - 3 1133 c.1094G>A c.(1093-1095)gGa>gAa p.G365E MEFV_ENST00000541159.1_Missense_Mutation_p.G154E|MEFV_ENST00000339854.4_Missense_Mutation_p.G185E|MEFV_ENST00000536379.1_Missense_Mutation_p.G154E NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 365 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GCTTAGGCTTCCCGGGCTCTT 0.647000 14 42 0 0 1 0 0 PSMD3 5709 broad.mit.edu 37 17 38152539 38152539 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:38152539C>T ENST00000264639.4 + 10 1598 c.1424C>T c.(1423-1425)gCc>gTc p.A475V PSMD3_ENST00000541736.1_Missense_Mutation_p.A337V NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 475 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) CCCCAGCTAGCCTTCCACCAG 0.557000 103 165 0 0 1 0 0 HTR3B 9177 broad.mit.edu 37 11 113816709 113816709 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:113816709C>T ENST00000260191.2 + 9 1433 c.1176C>T c.(1174-1176)ctC>ctT p.L392L HTR3B_ENST00000537778.1_Silent_p.L381L NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 392 HA-stretch. synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) GCAACTACCTCCAAACTCAGG 0.557000 26 23 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36872992 36872992 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:36872992C>T ENST00000429976.2 - 21 8197 c.7950G>A c.(7948-7950)atG>atA p.M2650I TRANK1_ENST00000301807.6_Missense_Mutation_p.M2100I|TRANK1_ENST00000428977.2_Missense_Mutation_p.M2100I O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2650 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 CCAGTTCATCCATCTCATCCT 0.532000 6 18 0 0 1 0 0 NXPH3 11248 broad.mit.edu 37 17 47656441 47656441 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:47656441G>A ENST00000328741.5 + 2 900 c.538G>A c.(538-540)Gag>Aag p.E180K NXPH3_ENST00000513748.1_Missense_Mutation_p.E180K NM_007225.2 NP_009156.2 O95157 NXPH3_HUMAN neurexophilin 3 180 V (Cys-rich). neuropeptide signaling pathway extracellular region endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) GATGGAGTGGGAGAAGGTAGA 0.602000 36 106 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215802250 215802250 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:215802250G>A ENST00000272895.7 - 51 7745 c.7526C>T c.(7525-7527)cCa>cTa p.P2509L ABCA12_ENST00000389661.4_Missense_Mutation_p.P2191L|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2509 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTATGTTTTTGGAAAGTGCAG 0.458000 10 42 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43044283 43044283 + Missense_Mutation SNP G G T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:43044283G>T ENST00000267890.6 - 14 3269 c.3161C>A c.(3160-3162)cCa>cAa p.P1054Q NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1054 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AACTGGCCTTGGAATTTTGCT 0.493000 19 71 0.000132079 0.000132809 1 1 0 ZNF598 90850 broad.mit.edu 37 16 2049600 2049600 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:2049600G>A ENST00000563630.1 - 9 2027 c.1785C>T c.(1783-1785)ccC>ccT p.P595P ZNF598_ENST00000562103.1_Silent_p.P595P|ZNF598_ENST00000431526.1_Silent_p.P650P Q86UK7 ZN598_HUMAN zinc finger protein 598 650 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 GGAGCCCAGGGGGTTCCTTGG 0.736000 24 26 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157556184 157556184 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:157556184C>T ENST00000271532.1 - 6 1044 c.909G>A c.(907-909)ggG>ggA p.G303G FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 303 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CCAGCATCTCCCCTTCAACAG 0.602000 27 112 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180372594 180372594 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:180372594C>T ENST00000273654.4 - 13 1757 c.1138G>A c.(1138-1140)Gca>Aca p.A380T CCDC39_ENST00000442201.2_Missense_Mutation_p.A296T Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 296 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCCTGATATGCCGTTCTACAT 0.348000 11 19 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29364696 29364696 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:29364696G>A ENST00000383555.2 + 1 281 c.220G>A c.(220-222)Gtg>Atg p.V74M OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V74L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 TTACTCTACGGTGACACTGCC 0.458000 46 52 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67265011 67265011 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:67265011G>A ENST00000356404.3 - 13 2147 c.1922C>T c.(1921-1923)cCc>cTc p.P641L PITPNM1_ENST00000534749.1_Missense_Mutation_p.P641L|PITPNM1_ENST00000436757.2_Missense_Mutation_p.P641L NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 641 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity p.P641_S644delPEGS(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AGAGCCCTCGGGCTCAGGACT 0.672000 6 196 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994511 144994511 + Nonsense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:144994511G>A ENST00000322810.4 - 32 10058 c.9889C>T c.(9889-9891)Cga>Tga p.R3297* PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3160*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3183*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R3146*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3164*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R3128*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3160*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3187*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R3138* NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3297 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGGCAGCCTCGGGCGCAGGCG 0.721000 23 9 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535766 90535766 + RNA SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:90535766C>T ENST00000602681.1 + 0 1670 GATCATCTTTCCCGCCAAAGG 0.552000 127 43 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145040890 145040890 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:145040890C>T ENST00000360771.4 - 3 296 c.181G>A c.(181-183)Gaa>Aaa p.E61K GYPA_ENST00000512064.1_Missense_Mutation_p.E61K|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000503627.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Intron|GYPA_ENST00000504786.1_Intron|GYPA_ENST00000535709.1_Missense_Mutation_p.E35K|GYPA_ENST00000324022.10_Missense_Mutation_p.E28K NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 61 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) TCTGAAACTTCATGAGCTCTA 0.418000 31 29 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538455 4538455 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:4538455G>A ENST00000306390.6 - 2 1001 c.541C>T c.(541-543)Ccc>Tcc p.P181S CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 181 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AGCAGCCCGGGGGGCAGTTTC 0.622000 65 188 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58207172 58207172 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:58207172G>A ENST00000302572.2 - 1 474 c.453C>T c.(451-453)ttC>ttT p.F151F NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATGCATTCAGGAAACCACAGA 0.463000 25 34 0 0 1 0 0 GATAD2A 54815 broad.mit.edu 37 19 19613204 19613204 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:19613204C>T ENST00000404158.1 + 13 2061 c.1643C>T c.(1642-1644)cCg>cTg p.P548L GATAD2A_ENST00000252577.5_Missense_Mutation_p.P522L|GATAD2A_ENST00000360315.3_Missense_Mutation_p.P547L|GATAD2A_ENST00000537887.1_Missense_Mutation_p.P176L|GATAD2A_ENST00000358713.3_Missense_Mutation_p.P547L|GATAD2A_ENST00000429563.2_Missense_Mutation_p.P350L Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 547 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 ACGTTCAGTCCGTCACCCAAA 0.667000 16 142 0 0 1 0 0 C5orf54 63920 broad.mit.edu 37 5 159821898 159821898 + Missense_Mutation SNP G G C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:159821898G>C ENST00000408953.3 - 2 1107 c.600C>G c.(598-600)atC>atG p.I200M C5orf54_ENST00000523213.1_Missense_Mutation_p.I200M NM_022090.3 NP_071373.2 Q8IZ13 CE054_HUMAN chromosome 5 open reading frame 54 200 p.I200I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 12 attcttctacgatctctcttt 0.408000 3 50 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 54025323 54025323 + Missense_Mutation SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:54025323C>T ENST00000514921.1 + 7 2445 c.2332C>T c.(2332-2334)Cct>Tct p.P778S MLIP_ENST00000274897.5_Missense_Mutation_p.P254S|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.P789S Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 254 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 GCTCTATTTTCCTGCACAGCT 0.418000 6 44 0 0 1 0 0 LOC344967 344967 broad.mit.edu 37 4 40045585 40045585 + RNA SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:40045585G>A ENST00000381811.2 - 0 564 NR_027277.1 AGCCAGAGCGGCCACACAGCG 0.622000 10 7 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99013544 99013544 + Silent SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:99013544G>A ENST00000393504.1 + 8 2328 c.1911G>A c.(1909-1911)ctG>ctA p.L637L CNGA3_ENST00000272602.2_Silent_p.L637L|CNGA3_ENST00000409937.1_Silent_p.L641L|CNGA3_ENST00000436404.2_Silent_p.L619L NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 637 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GGTCCTCCCTGGACACCCTGC 0.597000 12 50 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41691554 41691554 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:41691554G>A ENST00000313860.7 + 25 3079 c.3025G>A c.(3025-3027)Gga>Aga p.G1009R LIMCH1_ENST00000512946.1_Missense_Mutation_p.G983R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G823R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G836R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G982R|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G906R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G816R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1393R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G828R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G842R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G823R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G995R NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 1009 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GTCTATAAGTGGAAAGAAGCT 0.383000 28 10 0 0 1 0 0 OR7E62P 26479 broad.mit.edu 37 2 71283122 71283123 + RNA INS - - T rs35074164 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:71283122_71283123insT ENST00000434990.1 - 0 61 GGCACCACCCCCAGGAGTGGTG 0.530 3 3 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971122 21971123 + Frame_Shift_Ins INS - - T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:21971122_21971123insT ENST00000579755.1 - 2 570_571 c.278_279insA c.(277-279)cccfs p.P93fs CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.P28fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.P79fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.P28fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.P79fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.P28fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.P79fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.P134fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.P28fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.P28fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.P93fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.P79fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 T -> A (in non-small cell lung carcinoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.T79I(2)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.T79fs*41(1)|p.E61_L94del(1)|p.A68fs*3(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) CACGGGTCGGGTGAGAGTGGCG 0.728 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 36 19 --- --- --- --- GPR107 57720 broad.mit.edu 37 9 132839657 132839660 + Splice_Site DEL AGTA AGTA - TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:132839657_132839660delAGTA ENST00000372406.1 + 4 893 c.386_splice c.e4+1 p.129_splice GPR107_ENST00000347136.6_Splice_Site_p.129_splice|GPR107_ENST00000372410.3_Splice_Site_p.129_splice NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 129 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) TCCAGAAGTGAGTAAGTAATTCTA 0.412 9 46 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. 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 ACTCTCCTCActgctgctgctgc 0.571 7 95 --- --- --- --- RP11-273B20.3 0 broad.mit.edu 37 12 7338794 7338794 + RNA DEL G G - rs34548221 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:7338794delG ENST00000545794.1 - 0 279 RP11-273B20.3_ENST00000543061.1_RNA cctgttgagaggggggactga 0.502 3 3 --- --- --- --- PMM2 5373 broad.mit.edu 37 16 8904969 8904969 + Frame_Shift_Del DEL A A - TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:8904969delA ENST00000268261.4 + 5 447 c.381delA c.(379-381)ttfs p.L127fs PMM2_ENST00000566983.1_Frame_Shift_Del_p.L100fs|PMM2_ENST00000537352.1_Frame_Shift_Del_p.L2fs|PMM2_ENST00000569958.1_Intron|PMM2_ENST00000539622.1_Frame_Shift_Del_p.L44fs NM_000303.2 NP_000294.1 O15305 PMM2_HUMAN phosphomannomutase 2 127 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol phosphomannomutase activity breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1) 9 ATGGGATGTTAAACGTGTCCC 0.408 2 4 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15303285 15303285 + Frame_Shift_Del DEL G G - TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:15303285delG ENST00000263388.2 - 3 318 c.243delC c.(241-243)ccfs p.P81fs NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 81 EGF-like 2. Missing (in CADASIL). 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) CTGAGTGACAGGGGTCCTCCA 0.677 9 16 --- --- --- ---