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 PTPRT 11122 broad.mit.edu 37 20 41420006 41420006 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:41420006G>A ENST00000373198.3 - 3 550 c.315C>T c.(313-315)ttC>ttT p.F105F PTPRT_ENST00000356100.2_Silent_p.F105F|PTPRT_ENST00000373201.1_Silent_p.F105F|PTPRT_ENST00000373187.1_Silent_p.F105F|PTPRT_ENST00000373184.1_Silent_p.F105F|PTPRT_ENST00000373193.3_Silent_p.F105F|PTPRT_ENST00000373190.1_Silent_p.F105F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 105 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGTAGTAATGGAAGTCGATGC 0.562000 18 46 0 0 1 0 0 HOMER1 9456 broad.mit.edu 37 5 78734856 78734856 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:78734856C>T ENST00000334082.6 - 5 1946 c.504G>A c.(502-504)caG>caA p.Q168Q HOMER1_ENST00000508576.1_Silent_p.Q168Q|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Intron NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 168 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) GCAATGCATTCTGAGTTGGTT 0.393000 19 98 0 0 1 0 0 IFNK 56832 broad.mit.edu 37 9 27524461 27524461 + Missense_Mutation SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:27524461C>A ENST00000276943.2 + 1 150 c.127C>A c.(127-129)Caa>Aaa p.Q43K MOB3B_ENST00000262244.5_Intron NM_020124.2 NP_064509.2 Q9P0W0 IFNK_HUMAN interferon, kappa 43 cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus extracellular space cytokine activity|interferon-alpha/beta receptor binding large_intestine(1) 1 all_neural(11;7.9e-11) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158) AGTCACCTGGCAAAATCTGAG 0.423000 24 91 3.08376e-08 3.1012e-08 1 1 0 SYT16 83851 broad.mit.edu 37 14 62462985 62462985 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:62462985C>T ENST00000430451.2 + 1 445 c.248C>T c.(247-249)tCc>tTc p.S83F SYT16_ENST00000446982.2_Missense_Mutation_p.S83F NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 83 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GATGCAAATTCCTTGTTTCTT 0.388000 30 157 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33783747 33783747 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:33783747G>A ENST00000403687.3 + 17 2454 c.1714G>A c.(1714-1716)Gag>Aag p.E572K RASGRP3_ENST00000407811.1_Missense_Mutation_p.E571K|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Missense_Mutation_p.E572K NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 572 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) AGCGCAGGATGAGGTGTTTGA 0.498000 28 50 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25468246 25468246 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:25468246C>T ENST00000453082.2 + 0 794 NR_003343.1 GCCTGCTTTTCCTGAGCCAGT 0.612000 6 48 0 0 1 0 0 ATCAY 85300 broad.mit.edu 37 19 3907734 3907734 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:3907734G>A ENST00000450849.2 + 5 828 c.361G>A c.(361-363)Gac>Aac p.D121N ATCAY_ENST00000600960.1_Missense_Mutation_p.D121N|ATCAY_ENST00000398448.3_Missense_Mutation_p.D127N|ATCAY_ENST00000301260.6_Missense_Mutation_p.D121N NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 121 transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) GCTTCTAGACGACACCCCCGT 0.677000 10 31 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74452086 74452086 + Missense_Mutation SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:74452086A>G ENST00000394019.2 - 28 3524 c.3127T>C c.(3127-3129)Ttc>Ctc p.F1043L SLC4A5_ENST00000377632.1_Missense_Mutation_p.F962L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.F941L|SLC4A5_ENST00000377634.4_Missense_Mutation_p.F1059L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.F962L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.F941L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.F1059L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.F983S|RP11-287D1.3_ENST00000451608.2_3'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1059 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GAAAAGATGAAATCCAGAAGC 0.468000 28 100 0 0 1 0 0 ING4 51147 broad.mit.edu 37 12 6765953 6765953 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:6765953G>A ENST00000341550.4 - 2 95 c.49C>T c.(49-51)Ctt>Ttt p.L17F ING4_ENST00000444704.2_Intron|ING4_ENST00000423703.2_Missense_Mutation_p.L17F|ING4_ENST00000396807.4_Missense_Mutation_p.L17F|ING4_ENST00000446105.2_Missense_Mutation_p.L17F|ING4_ENST00000412586.2_Missense_Mutation_p.L17F Q9UNL4 ING4_HUMAN inhibitor of growth family, member 4 17 apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis histone acetyltransferase complex protein binding|transcription coactivator activity|zinc ion binding central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 10 TCAAAGGGAAGGTTTTCAATA 0.423000 44 65 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56226562 56226562 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:56226562G>A ENST00000332836.2 - 6 2387 c.2360C>T c.(2359-2361)tCc>tTc p.S787F NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 787 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GGAGTCACAGGAGACAGAGGT 0.507000 10 47 0 0 1 0 0 CCDC148 130940 broad.mit.edu 37 2 159035459 159035459 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:159035459C>T ENST00000283233.5 - 12 1733 c.1420G>A c.(1420-1422)Gaa>Aaa p.E474K CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Missense_Mutation_p.E483K NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 474 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 AGGGCCACTTCCTTTTTCTCC 0.388000 28 75 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39831567 39831567 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:39831567G>A ENST00000309060.3 - 4 2405 c.1990C>T c.(1990-1992)Cgg>Tgg p.R664W ZHX3_ENST00000540170.1_Missense_Mutation_p.R664W|ZHX3_ENST00000544979.2_Missense_Mutation_p.R664W|ZHX3_ENST00000560361.1_Missense_Mutation_p.R664W|ZHX3_ENST00000559234.1_Missense_Mutation_p.R664W|ZHX3_ENST00000432768.2_Missense_Mutation_p.R664W|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 664 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) ACTTTTTTCCGTCTCTCTGAA 0.493000 47 274 0 0 1 0 0 IGKV3-7 28915 broad.mit.edu 37 2 89278240 89278240 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:89278240G>A ENST00000390247.2 - 0 191 TGGAGACAAAGACAGGGTGGG 0.493000 36 143 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4870103 4870103 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:4870103G>A ENST00000322101.2 - 1 411 c.336C>T c.(334-336)atC>atT p.I112I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAAGACATGGATAAAAACCA 0.567000 12 113 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76569605 76569605 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:76569605G>A ENST00000307431.8 + 19 3301 c.2916G>A c.(2914-2916)ggG>ggA p.G972G CNTNAP4_ENST00000377504.4_Silent_p.G924G|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.G900G|CNTNAP4_ENST00000476707.1_Silent_p.G976G NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 973 EGF-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GCAATGGAGGGAAATGCAGAG 0.498000 5 31 0 0 1 0 0 RSPRY1 89970 broad.mit.edu 37 16 57272840 57272840 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:57272840C>T ENST00000537866.1 + 15 2557 c.1684C>T c.(1684-1686)Cgt>Tgt p.R562C RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.R562C Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 562 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 CCCATTGTGTCGTAAAGAAAT 0.418000 14 67 0 0 1 0 0 ODF2 4957 broad.mit.edu 37 9 131247677 131247677 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:131247677G>A ENST00000303890.5 + 15 1837 c.1252G>A c.(1252-1254)Gaa>Aaa p.E418K ODF2_ENST00000372796.4_Missense_Mutation_p.E442K|ODF2_ENST00000372807.5_Missense_Mutation_p.E437K|ODF2_ENST00000372791.3_Missense_Mutation_p.E423K|ODF2_ENST00000448249.3_Missense_Mutation_p.E361K|ODF2_ENST00000546203.1_Missense_Mutation_p.E423K|ODF2_ENST00000444119.2_Missense_Mutation_p.E418K|ODF2_ENST00000351030.3_Missense_Mutation_p.E437K|ODF2_ENST00000393533.2_Missense_Mutation_p.E442K|ODF2_ENST00000372814.3_Missense_Mutation_p.E486K|ODF2_ENST00000434106.2_Missense_Mutation_p.E442K NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 442 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 ATCCACTCTGGAATCCTGGAG 0.502000 6 19 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149247692 149247692 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:149247692C>T ENST00000407073.1 + 12 4789 c.3792C>T c.(3790-3792)ttC>ttT p.F1264F MBD5_ENST00000404807.1_Silent_p.F1497F NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1264 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AGGAAAATTTCAGGTATAATA 0.408000 19 85 0 0 1 0 0 CNGA1 1259 broad.mit.edu 37 4 47944165 47944165 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:47944165C>T ENST00000402813.3 - 8 799 c.656_splice c.e8-1 p.E219_splice CNGA1_ENST00000420489.2_Splice_Site_p.E150_splice|CNGA1_ENST00000514170.1_Splice_Site_p.E150_splice|CNGA1_ENST00000544810.1_Splice_Site_p.E150_splice|CNGA1_ENST00000358519.4_Splice_Site_p.E150_splice P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 150 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 CTTTCTTCTCCCTAGCGGCAA 0.363000 14 76 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179637909 179637909 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179637909C>T ENST00000589042.1 - 33 8006 c.7782G>A c.(7780-7782)atG>atA p.M2594I TTN_ENST00000342992.6_Missense_Mutation_p.M2594I|TTN_ENST00000591111.1_Missense_Mutation_p.M2594I|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M2594I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M2548I|TTN_ENST00000460472.2_Missense_Mutation_p.M2548I|TTN_ENST00000342175.6_Missense_Mutation_p.M2548I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2328 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) CATCTTTCATCATATTTAGAA 0.313000 14 49 0 0 1 0 0 MASTL 84930 broad.mit.edu 37 10 27462185 27462185 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:27462185C>T ENST00000375946.4 + 9 2863 c.2260C>T c.(2260-2262)Cat>Tat p.H754Y MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.H754Y|MASTL_ENST00000375940.4_Missense_Mutation_p.H755Y NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 755 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGGCAGGGCCCATGGTAAGGC 0.438000 75 163 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42489189 42489189 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:42489189G>A ENST00000545399.1 - 8 1066 c.913C>T c.(913-915)Ctg>Ttg p.L305L ATP1A3_ENST00000543770.1_Silent_p.L303L|ATP1A3_ENST00000602133.1_Silent_p.L262L|ATP1A3_ENST00000302102.5_Silent_p.L292L NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 292 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GAGACACCCAGGAAGACAGCC 0.587000 7 30 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20232324 20232324 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:20232324C>T ENST00000245957.5 + 20 2321 c.2245C>T c.(2245-2247)Cga>Tga p.R749* C20orf26_ENST00000377293.1_Nonsense_Mutation_p.R105*|C20orf26_ENST00000389656.3_Nonsense_Mutation_p.R105*|C20orf26_ENST00000377309.2_Nonsense_Mutation_p.R105* NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 749 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CGGCATAGACCGAGCAGCCAA 0.542000 33 182 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57936631 57936631 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:57936631G>A ENST00000358697.4 - 1 436 c.224C>T c.(223-225)gCg>gTg p.A75V NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 75 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 GGGCCTCGGCGCGAACAGGCT 0.761000 4 23 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455039 84455039 + Missense_Mutation SNP G G A rs144169256 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:84455039G>A ENST00000377084.2 - 1 1489 c.604C>T c.(604-606)Cct>Tct p.P202S NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 202 integral to membrane p.P202S(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GCAATACCAGGGATTTGCTCC 0.542000 27 74 0 0 1 0 0 SH3BP5 9467 broad.mit.edu 37 3 15345738 15345738 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:15345738C>T ENST00000383791.3 - 3 422 c.201_splice c.e3-1 p.D68_splice SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000465894.2_5'UTR|SH3BP5_ENST00000426925.1_5'UTR NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 68 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 TGACGAGCATCCTGCAGCCAG 0.488000 10 82 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55182893 55182893 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:55182893G>A ENST00000337714.3 + 2 301 c.68G>A c.(67-69)tGg>tAg p.W23* AKAP1_ENST00000539273.1_Nonsense_Mutation_p.W23*|AKAP1_ENST00000314126.3_Nonsense_Mutation_p.W23*|AKAP1_ENST00000571629.1_Nonsense_Mutation_p.W23*|AKAP1_ENST00000572557.1_Nonsense_Mutation_p.W23* NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 23 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CTCGGCTGGTGGTGGTTTTTC 0.567000 10 59 0 0 1 0 0 SRPX2 27286 broad.mit.edu 37 X 99901387 99901387 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:99901387C>T ENST00000373004.3 + 2 496 c.68C>T c.(67-69)cCa>cTa p.P23L SRPX2_ENST00000481988.1_3'UTR NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 23 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 GCAGTGACACCAACATGGTAT 0.453000 20 133 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105439016 105439016 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:105439016G>A ENST00000264122.4 - 10 1603 c.1282C>T c.(1282-1284)Cca>Tca p.P428S CBLB_ENST00000394027.3_Missense_Mutation_p.P450S|CBLB_ENST00000403724.1_Missense_Mutation_p.P428S|CBLB_ENST00000405772.1_Missense_Mutation_p.P428S|CBLB_ENST00000545639.1_3'UTR NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 428 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 TCATCTCTTGGATCAAAGGGG 0.483000 Mis S AML 18 37 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971017 21971017 + Missense_Mutation SNP G G A rs121913386 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:21971017G>A ENST00000304494.5 - 2 611 c.341C>T c.(340-342)cCc>cTc p.P114L CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Silent_p.A128A NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 114 P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding). 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.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(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) CAGGTCCACGGGCAGACGGCC 0.731000 P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 12 26 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36035824 36035824 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:36035824C>T ENST00000282507.3 - 7 1649 c.1548G>A c.(1546-1548)ggG>ggA p.G516G UGT3A2_ENST00000545528.1_Silent_p.G214G|UGT3A2_ENST00000513300.1_Silent_p.G482G NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 516 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCTTTCTGGCCCCACGCAGCC 0.577000 17 43 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040990 147040990 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:147040990C>T ENST00000265272.5 - 3 615 c.148G>A c.(148-150)Gag>Aag p.E50K JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E50K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E8K NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 50 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGTCTTCTCTCTTTCAAGC 0.498000 20 101 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152697600 152697600 + Missense_Mutation SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:152697600C>A ENST00000367255.5 - 58 9841 c.9240G>T c.(9238-9240)ttG>ttT p.L3080F SYNE1_ENST00000448038.1_Missense_Mutation_p.L3087F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L3080F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3119F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L3087F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3080 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTGCATTAACCAACCACTGCT 0.378000 HNSCC(10;0.0054) 36 71 5.8336e-16 5.89516e-16 1 1 0 CDC42BPG 55561 broad.mit.edu 37 11 64604452 64604452 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:64604452C>T ENST00000342711.5 - 10 1244 c.1245G>A c.(1243-1245)ctG>ctA p.L415L NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 415 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 GCTTCCGCTCCAGGGCAGCCC 0.622000 7 51 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306499 2306499 + Missense_Mutation SNP G G A rs151169783 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:2306499G>A ENST00000290974.2 - 8 1907 c.1568C>T c.(1567-1569)tCg>tTg p.S523L RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S493L|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S453L NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 523 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GGAAGTGGGCGATTTGGGGTT 0.677000 8 50 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37626066 37626066 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:37626066C>T ENST00000434837.2 - 3 1515 c.337G>A c.(337-339)Ggc>Agc p.G113S MDGA1_ENST00000505425.1_Missense_Mutation_p.G113S|MDGA1_ENST00000297153.7_Missense_Mutation_p.G113S NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 113 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACCCCCACGCCGTTCTCAGCC 0.662000 20 32 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32949635 32949635 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:32949635C>T ENST00000399302.2 + 3 398 c.63C>T c.(61-63)ctC>ctT p.L21L QSER1_ENST00000527250.1_Intron|QSER1_ENST00000527788.1_Silent_p.L21L NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 21 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) GAACTACTCTCTTACCACAAT 0.413000 19 95 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78443390 78443390 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:78443390C>T ENST00000278550.7 - 21 3571 c.3109G>A c.(3109-3111)Gag>Aag p.E1037K NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GGGCCTTTCTCTGCACAGGAG 0.527000 30 45 0 0 1 0 0 CCND2 894 broad.mit.edu 37 12 4409047 4409047 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:4409047G>A ENST00000261254.3 + 5 1011 c.742G>A c.(742-744)Gag>Aag p.E248K NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 248 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) AGCTTGCCAGGAGCAGATTGA 0.517000 T IGL@ """NHL,CLL""" 9 91 0 0 1 0 0 PABPC5 140886 broad.mit.edu 37 X 90691348 90691348 + Missense_Mutation SNP G G C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:90691348G>C ENST00000312600.3 + 2 986 c.772G>C c.(772-774)Gac>Cac p.D258H PABPC5_ENST00000373105.1_Missense_Mutation_p.D94H NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 258 RRM 3. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 GGCTGTGCTAGACTTGCATGG 0.463000 22 94 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606747 21606747 + Missense_Mutation SNP G G A rs143136118 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:21606747G>A ENST00000392288.2 + 4 1395 c.1286G>A c.(1285-1287)gGa>gAa p.G429E CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.G301E NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATTCATACTGGAGAGAAACCC 0.338000 8 50 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130293060 130293060 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:130293060G>A ENST00000358511.6 + 7 3269 c.3238G>A c.(3238-3240)Ggt>Agt p.G1080S COL6A6_ENST00000453409.2_Missense_Mutation_p.G1080S NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1080 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen p.G1080S(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CACACACATCGGTGCTGCACT 0.473000 31 88 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215890456 215890456 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:215890456G>A ENST00000272895.7 - 11 1447 c.1228C>T c.(1228-1230)Ctt>Ttt p.L410F AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.L92F NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 410 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) CCATTGCGAAGAAAAGATTTT 0.323000 10 54 0 0 1 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307608 39307608 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:39307608G>A ENST00000541347.1 - 2 632 c.393C>T c.(391-393)atC>atT p.I131I CX3CR1_ENST00000542107.1_Silent_p.I131I|CX3CR1_ENST00000399220.2_Silent_p.I131I|CX3CR1_ENST00000358309.3_Silent_p.I163I NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 131 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CGGCCAGGACGATGGCCAGGT 0.537000 58 122 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107096619 107096619 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:107096619G>A ENST00000261058.1 + 1 432 c.185G>A c.(184-186)gGa>gAa p.G62E NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 62 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 AGTTATGACGGAAAAATGAAT 0.368000 38 151 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228401903 228401903 + Missense_Mutation SNP G G C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:228401903G>C ENST00000570156.2 + 4 1361 c.1287G>C c.(1285-1287)aaG>aaC p.K429N OBSCN_ENST00000284548.11_Missense_Mutation_p.K429N|OBSCN_ENST00000422127.1_Missense_Mutation_p.K429N|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 429 Ig-like 5. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCCCTCGGAAGACGGCGGTGC 0.701000 26 128 0 0 1 0 0 TBC1D3F 84218 broad.mit.edu 37 17 36288233 36288233 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:36288233C>T ENST00000539424.1 + 2 1744 c.79C>T c.(79-81)Cgg>Tgg p.R27W TBC1D3F_ENST00000505415.1_Missense_Mutation_p.R107W|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.R107W|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.R107W A6NER0 TBC3F_HUMAN TBC1 domain family, member 3F 107 intracellular Rab GTPase activator activity liver(1)|pancreas(1) 2 CATGAACATCCGGGGCCCGAT 0.552000 44 657 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8206851 8206851 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:8206851G>A ENST00000600128.1 - 7 1126 c.712C>T c.(712-714)Ccc>Tcc p.P238S FBN3_ENST00000601739.1_Missense_Mutation_p.P238S|FBN3_ENST00000270509.2_Missense_Mutation_p.P238S Q75N90 FBN3_HUMAN fibrillin 3 238 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGGATATTGGGGATGAAGCCG 0.632000 15 46 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228558793 228558793 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:228558793G>A ENST00000570156.2 + 105 23259 c.23185G>A c.(23185-23187)Gac>Aac p.D7729N OBSCN_ENST00000366707.4_Missense_Mutation_p.D4406N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D6772N NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6772 Protein kinase 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGCCCACCCGACAGCCCCTC 0.662000 9 34 0 0 1 0 0 NDUFAF7 55471 broad.mit.edu 37 2 37475402 37475402 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:37475402G>A ENST00000002125.4 + 10 1275 c.1235G>A c.(1234-1236)aGa>aAa p.R412K NDUFAF7_ENST00000336237.6_Missense_Mutation_p.R314K NM_144736.4 NP_653337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 CCTCATCAGAGACTTCAAGGT 0.423000 47 115 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575771 12575771 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:12575771G>A ENST00000397732.3 - 4 1136 c.965C>T c.(964-966)tCc>tTc p.S322F CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.S322F NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TTTTCTAAAGGAACTAGGAAA 0.373000 14 72 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50464105 50464105 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:50464105C>T ENST00000404971.1 - 19 4827 c.3488G>A c.(3487-3489)gGg>gAg p.G1163E NRXN1_ENST00000406859.3_Missense_Mutation_p.G1123E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1115E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G1123E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_Missense_Mutation_p.G141E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1115E|NRXN1_ENST00000342183.5_Missense_Mutation_p.G88E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1123E NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1123 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATATGTCGTCCCAGCTGGAAA 0.403000 27 92 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26310490 26310490 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:26310490C>T ENST00000265944.5 + 8 810 c.644C>T c.(643-645)tCc>tTc p.S215F MYO3A_ENST00000376302.1_Missense_Mutation_p.S215F|MYO3A_ENST00000543632.1_Missense_Mutation_p.S215F NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 215 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GACACTTGGTCCCTGGGTATC 0.458000 24 94 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33372990 33372990 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:33372990C>T ENST00000428849.2 + 7 1568 c.1118C>T c.(1117-1119)tCc>tTc p.S373F NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 373 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CATGATTTTTCCTTTGACCGG 0.582000 27 195 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168409 142168409 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:142168409G>A ENST00000454561.2 - 0 514 ATACAGGGCCGAGTCGTCCAG 0.512000 16 185 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 757303 757303 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:757303G>A ENST00000215582.6 + 2 460 c.357G>A c.(355-357)aaG>aaA p.K119K NM_173481.2 NP_775752.1 mitotic spindle positioning GGGAGGACAAGGAGATGAAGA 0.667000 6 34 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123556195 123556195 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:123556195C>T ENST00000422452.2 - 24 4461 c.4398G>A c.(4396-4398)ggG>ggA p.G1466G TENM1_ENST00000371130.3_Silent_p.G1459G|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TGTAGATCTCCCCATTGGTGG 0.493000 21 126 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60887986 60887986 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:60887986G>A ENST00000252999.3 - 66 9102 c.9036C>T c.(9034-9036)gtC>gtT p.V3012V NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3012 Laminin G-like 2. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTGCAGTGGGACGGCCTTTT 0.657000 22 42 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88726698 88726698 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:88726698G>A ENST00000394480.1 - 5 667 c.346C>T c.(346-348)Cgg>Tgg p.R116W NTRK3_ENST00000355254.2_Missense_Mutation_p.R116W|NTRK3_ENST00000360948.2_Missense_Mutation_p.R116W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R116W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R116W|NTRK3_ENST00000317501.3_Missense_Mutation_p.R116W|NTRK3_ENST00000558676.1_Missense_Mutation_p.R116W|NTRK3_ENST00000540489.2_Missense_Mutation_p.R116W|NTRK3_ENST00000542733.2_Missense_Mutation_p.R18W NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 116 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TGAATGCTCCGAAGTCCTGAG 0.552000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 59 124 0 0 1 0 0 PECR 55825 broad.mit.edu 37 2 216923647 216923647 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:216923647G>A ENST00000265322.7 - 4 551 c.477C>T c.(475-477)gtC>gtT p.V159V PECR_ENST00000497889.1_5'UTR NM_018441.5 NP_060911.2 Q9BY49 PECR_HUMAN peroxisomal trans-2-enoyl-CoA reductase 159 fatty acid biosynthetic process|regulation of apoptosis peroxisome binding|trans-2-enoyl-CoA reductase (NADPH) activity endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1) 14 Renal(323;0.0327) Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Adenine(DB00173) CTTTAGTAGGGACAATGATAT 0.378000 20 71 0 0 1 0 0 TUFM 7284 broad.mit.edu 37 16 28857331 28857331 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:28857331G>A ENST00000313511.3 - 2 287 c.149C>T c.(148-150)gCc>gTc p.A50V NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 47 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 AGTCTTCTTGGCCTCCACGGC 0.637000 13 54 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99696946 99696946 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:99696946G>A ENST00000303887.5 - 4 1002 c.357C>T c.(355-357)gtC>gtT p.V119V MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.V119V NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 119 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GGGGGCTTCGGACCATCCCAG 0.498000 31 215 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40116370 40116370 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:40116370G>A ENST00000373233.3 - 14 2113 c.1936C>T c.(1936-1938)Cca>Tca p.P646S CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 646 Helicase ATP-binding. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AACTGTGATGGCTCCAGAAAA 0.438000 16 129 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567248 45567248 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:45567248G>A ENST00000588982.1 - 3 732 c.231C>T c.(229-231)atC>atT p.I77I ZBTB7C_ENST00000586438.1_Silent_p.I77I|ZBTB7C_ENST00000332053.2_Silent_p.I77I|ZBTB7C_ENST00000535628.2_Silent_p.I77I|ZBTB7C_ENST00000590800.1_Silent_p.I77I A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 77 BTB. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GGACAAAGTCGATCTCATAGA 0.582000 9 35 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543667 141543667 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:141543667G>A ENST00000442267.2 - 21 3557 c.3483C>T c.(3481-3483)tcC>tcT p.S1161S NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1161 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ATGAGGACATGGAGCTGTCGT 0.632000 18 91 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160124975 160124975 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:160124975C>T ENST00000368081.4 + 3 819 c.348C>T c.(346-348)gcC>gcT p.A116A NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 116 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGACTGGGGCCATTCTCTGCT 0.507000 43 35 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137255925 137255925 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:137255925G>A ENST00000453654.1 - 19 1582 c.1043C>T c.(1042-1044)tCt>tTt p.S348F DGKI_ENST00000288490.5_Missense_Mutation_p.S648F|DGKI_ENST00000424189.2_Missense_Mutation_p.S648F|DGKI_ENST00000446122.1_Missense_Mutation_p.S648F O75912 DGKI_HUMAN diacylglycerol kinase, iota 648 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 GCTCACCAAAGAGGCCATGGT 0.378000 7 71 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43108268 43108268 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:43108268C>T ENST00000428554.2 + 19 2906 c.1763C>T c.(1762-1764)tCc>tTc p.S588F CCDC30_ENST00000342022.4_Missense_Mutation_p.S588F|CCDC30_ENST00000340612.4_Missense_Mutation_p.S588F|CCDC30_ENST00000390640.4_Missense_Mutation_p.S377F|CCDC30_ENST00000507855.1_Missense_Mutation_p.S377F Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 588 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 ACGATATCTTCCATCCAGAGC 0.458000 126 105 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130832996 130832996 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:130832996C>T ENST00000357462.5 - 15 2142 c.2049G>A c.(2047-2049)gtG>gtA p.V683V POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Silent_p.V683V|POTEF_ENST00000360967.5_3'UTR A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 683 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TCCTTTTTTTCACACTTTCAA 0.413000 17 53 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49207395 49207395 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:49207395G>A ENST00000340334.7 - 7 975 c.607C>T c.(607-609)Cag>Tag p.Q203* FOLH1_ENST00000533034.1_Nonsense_Mutation_p.Q203*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.Q218*|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.Q218* NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 218 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CCTGCCAGCTGGGCATTTTTA 0.423000 12 57 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16286769 16286769 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:16286769G>A ENST00000205557.7 - 11 1378 c.1349C>T c.(1348-1350)cCc>cTc p.P450L ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 450 ABC transmembrane type-1 1. 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) GAGGGCGGAGGGCCCCAGGAG 0.562000 8 37 0 0 1 0 0 NME9 347736 broad.mit.edu 37 3 138023745 138023745 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:138023745G>A ENST00000383180.2 - 10 815 c.578C>T c.(577-579)cCc>cTc p.P193L NME9_ENST00000341790.5_Missense_Mutation_p.P191L|NME9_ENST00000333911.3_Missense_Mutation_p.P254L|NME9_ENST00000317876.4_Missense_Mutation_p.P193L|NME9_ENST00000484930.1_Missense_Mutation_p.P191L|NME9_ENST00000536478.1_Missense_Mutation_p.P193L NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 254 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity GGCCACATTGGGGTCACGGGG 0.592000 79 132 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42080596 42080596 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:42080596C>T ENST00000400454.1 - 2 622 c.145G>A c.(145-147)Gca>Aca p.A49T NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 49 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGGATGCCTGCTGCGGGGCAG 0.592000 28 171 0 0 1 0 0 LCE3E 353145 broad.mit.edu 37 1 152538502 152538502 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:152538502G>A ENST00000368789.1 - 2 238 c.183C>T c.(181-183)caC>caT p.H61H NM_178435.2 NP_848522.1 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 61 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) GCCGGCATCGGTGGTGGCGCC 0.677000 85 73 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10783821 10783821 + Missense_Mutation SNP C C G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:10783821C>G ENST00000075503.3 - 5 794 c.274G>C c.(274-276)Gtg>Ctg p.V92L NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 92 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 AAGTTTTCCACGGATGTCTCC 0.547000 HNSCC(73;0.22) 18 120 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121023744 121023744 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:121023744C>T ENST00000392793.1 + 13 4531 c.4260C>T c.(4258-4260)atC>atT p.I1420I TECTA_ENST00000264037.2_Silent_p.I1420I O75443 TECTA_HUMAN tectorin alpha 1420 TIL 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGAGCTGCATCCTGCCCCACA 0.612000 6 22 0 0 1 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122278351 122278351 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:122278351C>T ENST00000398250.1 + 4 615 c.263C>T c.(262-264)tCc>tTc p.S88F PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.S88F|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.S78F|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Intron NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 88 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) GTAGCGGTGTCCTTGGCTCTT 0.358000 16 97 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32030149 32030149 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:32030149G>A ENST00000375244.3 - 20 7154 c.6953C>T c.(6952-6954)tCc>tTc p.S2318F TNXB_ENST00000375247.2_Missense_Mutation_p.S2318F P22105 TENX_HUMAN tenascin XB 2380 Fibronectin type-III 15. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAGGCTGAGGGAGTCAGGGGT 0.617000 6 29 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23522723 23522723 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:23522723G>A ENST00000397359.3 - 7 1467 c.1208C>T c.(1207-1209)tCc>tTc p.S403F CDH24_ENST00000267383.5_Missense_Mutation_p.S403F|CDH24_ENST00000554034.1_Missense_Mutation_p.S403F|CDH24_ENST00000487137.2_Missense_Mutation_p.S403F NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 403 Cadherin 4. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) GCTGGCAGGGGAGTCCAGGTC 0.632000 6 26 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28968370 28968370 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:28968370G>A ENST00000359747.4 + 4 286 c.257G>A c.(256-258)cGg>cAg p.R86Q RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.R86Q|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 86 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATAACATACCGGATTTCTGGA 0.403000 9 57 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17766812 17766812 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:17766812G>A ENST00000428389.2 - 11 1426 c.1427C>T c.(1426-1428)gCc>gTc p.A476V UNC13A_ENST00000550896.1_Missense_Mutation_p.A388V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A388V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A388V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A388V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A388V Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 388 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TGCCACTGGGGCCTTGTCCTC 0.657000 4 6 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111865791 111865791 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:111865791C>T ENST00000440460.2 + 16 1780 c.1483C>T c.(1483-1485)Cca>Tca p.P495S DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.P284S NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 496 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) TTTTCTCCTTCCAACGGCAGG 0.468000 37 286 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70959221 70959221 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:70959221C>T ENST00000322954.6 - 16 3987 c.3802G>A c.(3802-3804)Gaa>Aaa p.E1268K UACA_ENST00000539319.1_Missense_Mutation_p.E1159K|UACA_ENST00000379983.2_Missense_Mutation_p.E1255K|UACA_ENST00000560441.1_Missense_Mutation_p.E1253K NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1268 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GCAGATATTTCCTTCTTTTTG 0.353000 39 103 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153690570 153690570 + Missense_Mutation SNP G G A rs36115591 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:153690570G>A ENST00000369682.3 + 4 1412 c.1237G>A c.(1237-1239)Ggc>Agc p.G413S NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 413 Sema. G -> S (in dbSNP:rs36115591). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAGCACCGACGGCATGGCCAG 0.652000 14 90 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107332146 107332146 + Missense_Mutation SNP G G A rs150858980 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:107332146G>A ENST00000335040.1 + 1 698 c.698G>A c.(697-699)gGa>gAa p.G233E NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G233E(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCCACTGAAGGAAAACATAAG 0.418000 15 84 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79932388 79932388 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:79932388C>T ENST00000373275.4 - 41 5345 c.5129G>A c.(5128-5130)gGg>gAg p.G1710E NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1710 Gly-rich. breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 tcctcctctccctcttcccct 0.542000 15 80 0 0 1 0 0 SLC7A11 23657 broad.mit.edu 37 4 139140424 139140424 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:139140424C>T ENST00000280612.5 - 5 1021 c.742G>A c.(742-744)Ggc>Agc p.G248S NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 248 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) ACTTACCAGCCAGCATATGCA 0.428000 8 102 0 0 1 0 0 THAP11 57215 broad.mit.edu 37 16 67877153 67877153 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:67877153A>G ENST00000303596.1 + 1 941 c.696A>G c.(694-696)gtA>gtG p.V232V CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) TGGTGGTGGTAGGGGAAGAGG 0.667000 73 165 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70890408 70890408 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:70890408G>A ENST00000322773.4 + 44 2870 c.2768G>A c.(2767-2769)gGa>gAa p.G923E COL19A1_ENST00000393344.1_Missense_Mutation_p.G545E NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 923 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGACCCTCAGGAAAGCCAGTA 0.398000 9 68 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39867422 39867422 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:39867422C>T ENST00000314471.6 + 9 2130 c.1095C>T c.(1093-1095)tcC>tcT p.S365S SAMD4B_ENST00000598913.1_Silent_p.S365S|SAMD4B_ENST00000596368.1_Intron NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 365 SAM. protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TCCTCAAGTCCCTAGAGAAGG 0.572000 8 43 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56815907 56815907 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:56815907G>A ENST00000229201.4 - 20 2658 c.2504C>T c.(2503-2505)gCc>gTc p.A835V TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A836V NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 836 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GTCCTTATTGGCGAGGTACAG 0.537000 29 104 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38770200 38770200 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:38770200C>T ENST00000449082.2 - 15 2472 c.2473G>A c.(2473-2475)Gaa>Aaa p.E825K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 825 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) GGCCAGTCTTCATGGGGCGCG 0.512000 21 91 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30873201 30873201 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:30873201C>T ENST00000383096.3 - 12 1280 c.1098G>A c.(1096-1098)gaG>gaA p.E366E CCDC178_ENST00000583930.1_Silent_p.E366E|CCDC178_ENST00000403303.1_Silent_p.E366E|CCDC178_ENST00000406524.2_Silent_p.E366E|CCDC178_ENST00000579947.1_Silent_p.E366E|CCDC178_ENST00000300227.8_Silent_p.E366E|CCDC178_ENST00000402325.1_Silent_p.E366E|CCDC178_ENST00000579916.1_Intron coiled-coil domain containing 178 CTTCCTTCTCCTCAATATTAG 0.294000 4 20 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39661532 39661532 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:39661532C>T ENST00000246635.3 - 1 317 c.271G>A c.(271-273)Gac>Aac p.D91N KRT13_ENST00000587544.1_Missense_Mutation_p.D91N|KRT13_ENST00000336861.3_Missense_Mutation_p.D91N NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 91 Gly-rich.|Head. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) gcaccaaagtcaacaaagcca 0.582000 10 64 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123366075 123366075 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:123366075C>T ENST00000360772.3 - 28 4993 c.4615G>A c.(4615-4617)Gag>Aag p.E1539K MYLK_ENST00000475616.1_Missense_Mutation_p.E1539K|MYLK_ENST00000360304.3_Missense_Mutation_p.E1539K|MYLK_ENST00000346322.5_Missense_Mutation_p.E1470K|MYLK_ENST00000359169.1_Missense_Mutation_p.E1539K|MYLK_ENST00000354792.5_Missense_Mutation_p.E339K Q15746 MYLK_HUMAN myosin light chain kinase 1539 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACTCACATCTCCAGGACCATG 0.587000 5 56 0 0 1 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424276 69424276 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:69424276C>T ENST00000333026.3 + 6 869 c.769C>T c.(769-771)Ctg>Ttg p.L257L NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 257 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 CAAAAAAATCCTGGGACTAAA 0.493000 6 66 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10506525 10506525 + Missense_Mutation SNP G G A rs145610067 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:10506525G>A ENST00000444303.2 + 4 743 c.271G>A c.(271-273)Gac>Aac p.D91N AMPD3_ENST00000396554.3_Missense_Mutation_p.D259N NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 250 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) ACCCTACCCCGACCTGGAGAC 0.577000 8 54 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139789 40139789 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:40139789A>G ENST00000325157.6 - 7 1969 c.1719T>C c.(1717-1719)ctT>ctC p.L573L NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 573 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) TGATGACATTAAGTTCTTGGA 0.428000 20 80 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600879 41600879 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:41600879C>T ENST00000330436.3 + 8 1177 c.1177C>T c.(1177-1179)Cct>Tct p.P393S NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 393 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TGAAGTGTTCCCTATGCTGGG 0.572000 25 141 0 0 1 0 0 SNORD114-31 767612 broad.mit.edu 37 14 101459613 101459613 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:101459613G>A ENST00000363219.1 + 0 41 NR_003224.1 AGTCATGGAGGATGAATACTA 0.363000 24 125 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220500130 220500130 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:220500130C>T ENST00000358055.3 + 13 2396 c.1884C>T c.(1882-1884)ttC>ttT p.F628F SLC4A3_ENST00000373762.3_Silent_p.F655F|SLC4A3_ENST00000273063.6_Silent_p.F655F|SLC4A3_ENST00000373760.2_Silent_p.F628F|SLC4A3_ENST00000317151.3_Silent_p.F628F P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 628 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGCTGCTTTCCAGCGAGAGC 0.617000 24 71 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 15 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31475216 31475216 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:31475216C>T ENST00000252229.6 + 5 1011 c.932C>T c.(931-933)cCa>cTa p.P311L MICB_ENST00000538442.1_Missense_Mutation_p.P279L|MICB_ENST00000399150.3_Missense_Mutation_p.P268L NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 311 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 ACAGACTTTCCATATGTTTCT 0.463000 14 82 0 0 1 0 0 OR1J4 26219 broad.mit.edu 37 9 125281920 125281920 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:125281920C>T ENST00000340750.1 + 1 501 c.501C>T c.(499-501)tcC>tcT p.S167S NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 CCCAGCTGTCCTTTTGTGCTG 0.493000 22 65 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196871568 196871568 + Missense_Mutation SNP C C G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:196871568C>G ENST00000367416.2 + 2 213 c.76C>G c.(76-78)Cca>Gca p.P26A CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.P27A NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TTGTGATTTTCCAGAAATTCA 0.279000 50 71 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38874114 38874114 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:38874114C>T ENST00000359357.3 + 61 8882 c.8628C>T c.(8626-8628)atC>atT p.I2876I DNAH8_ENST00000449981.2_Silent_p.I3093I|DNAH8_ENST00000441566.1_Silent_p.I2840I 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 TCACTTTCATCTTTACTGACA 0.353000 21 16 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126710399 126710399 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:126710399G>A ENST00000393409.2 + 2 1367 c.1367G>A c.(1366-1368)cGc>cAc p.R456H PLXNA1_ENST00000251772.4_Missense_Mutation_p.R433H NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 456 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CGAAGTGGCCGCATCCGCAAG 0.677000 5 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582476 179582476 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179582476G>A ENST00000589042.1 - 87 25349 c.25125C>T c.(25123-25125)ttC>ttT p.F8375F TTN_ENST00000342992.6_Silent_p.F7131F|TTN_ENST00000591111.1_Silent_p.F8058F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8058 Ig-like 66. 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) ATGCAACTGGGAAGCCTAGAG 0.418000 14 47 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111141831 111141831 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:111141831G>A ENST00000360467.5 + 35 3553 c.3247G>A c.(3247-3249)Gag>Aag p.E1083K NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1083 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCTGTATGGCGAGATTGGCGC 0.512000 15 129 0 0 1 0 0 NEU1 4758 broad.mit.edu 37 6 31827644 31827644 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:31827644G>A ENST00000375631.4 - 6 1229 c.1100C>T c.(1099-1101)cCc>cTc p.P367L NM_000434.3 NP_000425.1 Q99519 NEUR1_HUMAN sialidase 1 (lysosomal sialidase) 367 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) ATAGCCACTGGGGCCTGGCCA 0.597000 48 109 0 0 1 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28297379 28297379 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:28297379G>A ENST00000414429.1 - 6 985 c.82C>T c.(82-84)Cga>Tga p.R28* ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000344279.6_Nonsense_Mutation_p.R28*|ZSCAN31_ENST00000396838.2_Nonsense_Mutation_p.R28*|ZSCAN31_ENST00000439158.1_Nonsense_Mutation_p.R28* zinc finger and SCAN domain containing 31 TTGTTCCCTCGAAGGTGGGTT 0.498000 87 106 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258333 56258333 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:56258333C>T ENST00000327216.2 - 1 538 c.514G>A c.(514-516)Gaa>Aaa p.E172K NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TGATTAATTTCATTGGGGCCA 0.498000 18 113 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56393405 56393405 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:56393405C>T ENST00000355701.3 - 16 2947 c.2077G>A c.(2077-2079)Gat>Aat p.D693N BZRAP1_ENST00000343736.4_Missense_Mutation_p.D693N|BZRAP1_ENST00000268893.6_Missense_Mutation_p.D633N NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 693 SH3 1. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCATCCTCATCCATGTTGCCA 0.507000 50 93 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75108809 75108809 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:75108809C>T ENST00000309664.5 + 3 511 c.372C>T c.(370-372)gtC>gtT p.V124V LMAN1L_ENST00000379709.3_Silent_p.V124V NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 124 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TAGGCTCTGTCCTTGGGGGGC 0.667000 36 105 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161132788 161132788 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:161132788C>T ENST00000368002.3 + 7 1350 c.973C>T c.(973-975)Cca>Tca p.P325S USP21_ENST00000368001.1_Missense_Mutation_p.P325S|USP21_ENST00000289865.8_Missense_Mutation_p.P325S|USP21_ENST00000487163.1_3'UTR NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 325 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCGCCGGGCTCCACCGATACT 0.582000 76 77 0 0 1 0 0 MVD 4597 broad.mit.edu 37 16 88721186 88721186 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:88721186A>G ENST00000301012.3 - 8 956 c.927T>C c.(925-927)aaT>aaC p.N309N NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 309 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) AGATCACGGCATTGGGGCCCG 0.612000 5 41 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129198697 129198697 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:129198697C>T ENST00000296266.3 + 14 1765 c.1573C>T c.(1573-1575)Cgt>Tgt p.R525C IFT122_ENST00000440957.2_Missense_Mutation_p.R265C|IFT122_ENST00000348417.2_Missense_Mutation_p.R474C|IFT122_ENST00000504021.1_Missense_Mutation_p.R368C|IFT122_ENST00000347300.2_Missense_Mutation_p.R415C|IFT122_ENST00000507564.1_Missense_Mutation_p.R466C|IFT122_ENST00000431818.2_Missense_Mutation_p.R324C|IFT122_ENST00000349441.2_Missense_Mutation_p.R363C NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 474 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GTCTCTCATTCGTTACATCAA 0.562000 16 101 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57114410 57114410 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:57114410G>A ENST00000454682.1 - 3 1185 c.904C>T c.(904-906)Ccc>Tcc p.P302S NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P302S|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 AGAGAAATGGGAAAATCTGGG 0.488000 T BCL6 NHL 24 51 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155264460 155264460 + Missense_Mutation SNP C C T rs140575553 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:155264460C>T ENST00000392414.3 - 6 798 c.685G>A c.(685-687)Gac>Aac p.D229N PKLR_ENST00000342741.4_Missense_Mutation_p.D260N NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 260 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CCGGGCAAGTCCACCTGGGCC 0.657000 28 30 0 0 1 0 0 AC010731.4 0 broad.mit.edu 37 2 207509254 207509254 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:207509254C>T ENST00000543490.1 + 0 469 CCCAACTCTTCTGGGACATCT 0.483000 15 50 0 0 1 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26238694 26238694 + RNA SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:26238694T>A ENST00000519902.1 - 0 1254 CAATACAGTATGATTACAGGA 0.378000 20 60 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595650 179595650 + Splice_Site SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179595650A>G ENST00000589042.1 - 60 17965 c.e60+1 TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 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) AACAATACCAACCTAATACAT 0.338000 61 271 0 0 1 0 0 GAB2 9846 broad.mit.edu 37 11 77934677 77934677 + Missense_Mutation SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:77934677C>A ENST00000361507.4 - 6 1433 c.1348G>T c.(1348-1350)Gac>Tac p.D450Y GAB2_ENST00000340149.2_Missense_Mutation_p.D412Y NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 450 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) ACATAGTTGTCTTCAGAATTG 0.502000 53 561 9.59835e-30 9.7471e-30 1 1 0 GLUD2 2747 broad.mit.edu 37 X 120181966 120181966 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:120181966G>A ENST00000328078.1 + 1 505 c.428G>A c.(427-429)cGc>cAc p.R143H NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 143 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) AGCCAGCACCGCACGCCCTGC 0.567000 26 116 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184008979 184008979 + Silent SNP G G A rs114388448 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:184008979G>A ENST00000402825.3 + 17 2340 c.2340G>A c.(2338-2340)gaG>gaA p.E780E ECE2_ENST00000359140.4_Silent_p.E633E|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.E708E|ECE2_ENST00000404464.3_Silent_p.E662E NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 780 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGCTGGGGGAGAACATTGCTG 0.632000 31 78 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45540978 45540978 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:45540978C>T ENST00000291576.7 + 13 1758 c.1631C>T c.(1630-1632)tCt>tTt p.S544F NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 544 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) GCCCTGACCTCTGATGGTGAG 0.612000 13 27 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19713826 19713826 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:19713826C>T ENST00000397821.3 - 5 714 c.424G>A c.(424-426)Ggg>Agg p.G142R SH3KBP1_ENST00000379698.4_Missense_Mutation_p.G105R|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.G142R NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 142 SH3 2. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 CCAGTCTTCCCGTTGAGAACA 0.473000 27 125 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134107411 134107411 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:134107411C>T ENST00000220616.4 + 42 7403 c.7363C>T c.(7363-7365)Cgc>Tgc p.R2455C SLA_ENST00000338087.5_Intron|SLA_ENST00000517648.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.R588C|TG_ENST00000377869.1_Missense_Mutation_p.R2398C|SLA_ENST00000518565.1_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000542445.1_Missense_Mutation_p.R825C|SLA_ENST00000524345.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2455 R -> H (in dbSNP:rs2272707). hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTCCTGCCTCCGCCAGAAGCC 0.522000 25 166 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46242662 46242662 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:46242662C>T ENST00000334344.6 + 13 1796 c.1624C>T c.(1624-1626)Cga>Tga p.R542* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R152*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R393* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 542 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) TTCTGTTTCTCGAGCAGAAAT 0.343000 """N, S, F""" hepatocellular carcinoma 21 38 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108396404 108396404 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:108396404C>T ENST00000361582.3 + 26 3072 c.2842C>T c.(2842-2844)Cca>Tca p.P948S DZIP3_ENST00000463306.1_Missense_Mutation_p.P948S NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 948 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TACCTTGCCTCCAGTCCAGCT 0.393000 78 286 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022871 76022871 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:76022871T>C ENST00000393004.2 - 5 2898 c.2677A>G c.(2677-2679)Agt>Ggt p.S893G FILIP1_ENST00000237172.7_Missense_Mutation_p.S893G|FILIP1_ENST00000370020.1_Missense_Mutation_p.S794G|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 893 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TGCCCTGGACTGGAATTTGTT 0.532000 32 120 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981719 92981719 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:92981719C>T ENST00000268164.3 + 4 664 c.427C>T c.(427-429)Ctc>Ttc p.L143F ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L122F NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 143 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CTACGAGCTCCTCCCCAGGAC 0.517000 55 144 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151936761 151936761 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:151936761G>A ENST00000367290.5 + 10 2004 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K CCDC170_ENST00000239374.7_Missense_Mutation_p.E632K Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 632 GGTAACCAGTGAAATGAAGAC 0.403000 49 99 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82333695 82333695 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:82333695G>A ENST00000376520.4 + 16 2323 c.1495G>A c.(1495-1497)Gac>Aac p.D499N TLE4_ENST00000376544.3_Missense_Mutation_p.D398N|TLE4_ENST00000376537.4_Missense_Mutation_p.D499N|TLE4_ENST00000376534.4_Missense_Mutation_p.D104N|TLE4_ENST00000376552.2_Missense_Mutation_p.D467N|TLE4_ENST00000265284.6_Missense_Mutation_p.D442N 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 TTTTCCACCCGACGCCCTCAT 0.562000 14 80 0 0 1 0 0 TMEM27 57393 broad.mit.edu 37 X 15646186 15646186 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:15646186C>T ENST00000380342.3 - 6 832 c.577G>A c.(577-579)Gaa>Aaa p.E193K NM_020665.4 NP_065716.1 Q9HBJ8 TMM27_HUMAN transmembrane protein 27 193 proteolysis integral to membrane metallopeptidase activity|peptidyl-dipeptidase activity endometrium(3)|lung(4)|ovary(1) 8 Hepatocellular(33;0.183) ATGCCATTTTCAATTGTGATC 0.438000 21 46 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4945447 4945447 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:4945447G>A ENST00000321961.2 - 1 190 c.123C>T c.(121-123)atC>atT p.I41I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTTCCCCAAGATAACTGTCA 0.502000 23 52 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150721311 150721311 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:150721311G>A ENST00000605938.1 - 1 275 c.200C>T c.(199-201)tCc>tTc p.S67F ATG9B_ENST00000605952.1_Missense_Mutation_p.S67F|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.S67F NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 67 Pro-rich. autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTGGGAGGGGAAAATGAGGA 0.632000 3 21 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145636515 145636515 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:145636515C>T ENST00000296575.3 + 10 2266 c.1611C>T c.(1609-1611)ctC>ctT p.L537L NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 537 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CACTCTGTCTCGGCACTAGTG 0.418000 18 103 0 0 1 0 0 RAB11A 8766 broad.mit.edu 37 15 66169674 66169674 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:66169674C>T ENST00000261890.2 + 2 173 c.45C>T c.(43-45)gtC>gtT p.V15V RAB11A_ENST00000569896.1_Silent_p.V15V|RAB11A_ENST00000564910.1_Silent_p.V15V|RAB11A_ENST00000435304.2_Silent_p.V15V|RAB11A_ENST00000565075.1_Silent_p.V15V NM_001206836.1|NM_004663.4 NP_001193765.1|NP_004654.1 P62491 RB11A_HUMAN RAB11A, member RAS oncogene family 15 cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network GTP binding|GTPase activity|syntaxin binding kidney(1)|large_intestine(2)|lung(1)|prostate(1) 5 TTCCAGTTGTCCTTATTGGAG 0.383000 7 25 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1480265 1480265 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:1480265C>T ENST00000297508.7 - 8 1942 c.1767G>A c.(1765-1767)gcG>gcA p.A589A MICALL2_ENST00000405088.4_Silent_p.A377A NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 589 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GCTTCAGATTCGCTCTCCATC 0.622000 15 70 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8621299 8621299 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:8621299C>T ENST00000429646.2 + 9 3531 c.738C>T c.(736-738)ttC>ttT p.F246F CPZ_ENST00000315782.6_Silent_p.F627F|CPZ_ENST00000360986.4_Silent_p.F638F|CPZ_ENST00000382480.2_Silent_p.F501F Q66K79 CBPZ_HUMAN carboxypeptidase Z 638 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGTCCTACTTCACATCGCTGA 0.701000 7 35 0 0 1 0 0 KLHL12 59349 broad.mit.edu 37 1 202888910 202888910 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:202888910G>A ENST00000367261.3 - 3 540 c.322C>T c.(322-324)Cct>Tct p.P108S KLHL12_ENST00000435533.3_Missense_Mutation_p.P146S NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 108 Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) CAGGCTGCAGGAAGCAGTTCT 0.383000 29 80 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65509365 65509365 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:65509365C>T ENST00000310193.3 - 6 1528 c.1355G>A c.(1354-1356)cGa>cAa p.R452Q CYP7B1_ENST00000523954.1_Intron NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 452 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TGCAAAAAATCGGCCTGGACA 0.343000 9 64 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107332054 107332054 + Silent SNP G G A rs146773946 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:107332054G>A ENST00000335040.1 + 1 606 c.606G>A c.(604-606)tcG>tcA p.S202S NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TGACAGGGTCGAATCTGATTG 0.348000 49 95 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52684496 52684496 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:52684496A>G ENST00000355568.4 - 7 586 c.447T>C c.(445-447)ggT>ggC p.G149G NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 149 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CTCTTGCTATACCAAAGTCCC 0.318000 29 76 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179485285 179485285 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179485285G>A ENST00000589042.1 - 248 46187 c.45963C>T c.(45961-45963)ttC>ttT p.F15321F TTN_ENST00000342992.6_Silent_p.F12753F|TTN_ENST00000591111.1_Silent_p.F13680F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.F6381F|TTN_ENST00000460472.2_Silent_p.F6256F|TTN_ENST00000342175.6_Silent_p.F6448F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13680 Ig-like 97. 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) CCTTGCACCAGAATGTGACAG 0.373000 10 76 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89349481 89349481 + Nonsense_Mutation SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:89349481C>A ENST00000301030.4 - 9 3929 c.3469G>T c.(3469-3471)Gag>Tag p.E1157* ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E1157* NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1157 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCATAGGCCTCCCGTCCTTCC 0.617000 24 181 5.35356e-11 5.39254e-11 1 1 0 ERV3-1 2086 broad.mit.edu 37 7 64452419 64452419 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:64452419G>A ENST00000394323.2 - 2 1486 c.986C>T c.(985-987)tCa>tTa p.S329L NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 329 virion p.S329*(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 gctctgacttgatggtgcagg 0.478000 16 80 0 0 1 0 0 GSDMB 55876 broad.mit.edu 37 17 38066101 38066101 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:38066101G>A ENST00000394175.2 - 3 707 c.484C>T c.(484-486)Ctg>Ttg p.L162L GSDMB_ENST00000520542.1_Silent_p.L162L|GSDMB_ENST00000309481.7_Silent_p.L162L|GSDMB_ENST00000360317.3_Silent_p.L162L|GSDMB_ENST00000394179.1_Silent_p.L162L|GSDMB_ENST00000418519.1_Silent_p.L162L NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 162 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 ACCGTCTCCAGAGTTTCTGTC 0.453000 14 103 0 0 1 0 0 DCT 1638 broad.mit.edu 37 13 95118870 95118870 + Missense_Mutation SNP C C T rs80350829 by1000genomes TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:95118870C>T ENST00000377028.5 - 3 1051 c.638G>A c.(637-639)gGa>gAa p.G213E DCT_ENST00000446125.1_Missense_Mutation_p.G213E|DCT_ENST00000490854.1_5'UTR NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 213 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) AAATGCAGGTCCTTGATGTGA 0.373000 13 60 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39552705 39552705 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:39552705C>T ENST00000251645.2 - 3 607 c.555G>A c.(553-555)gaG>gaA p.E185E NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 185 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) AGAGCAGCTCCTCCTTCAGGG 0.562000 20 47 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43591931 43591931 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:43591931G>A ENST00000395891.1 + 28 5111 c.4506G>A c.(4504-4506)cgG>cgA p.R1502R HECW1_ENST00000453890.1_Silent_p.R1468R NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1502 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.R1481R(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CTGAGTACCGGGGAGGTGAGT 0.478000 6 88 0 0 1 0 0 ANTXR2 118429 broad.mit.edu 37 4 80975499 80975499 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:80975499C>T ENST00000403729.2 - 7 1088 c.563G>A c.(562-564)aGa>aAa p.R188K ANTXR2_ENST00000295465.4_Missense_Mutation_p.R188K|ANTXR2_ENST00000404191.1_Missense_Mutation_p.R111K|ANTXR2_ENST00000346652.6_Missense_Mutation_p.R188K|ANTXR2_ENST00000307333.7_Missense_Mutation_p.R188K NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 188 VWFA. endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 ATCAGCAATTCTTTCAAGCTT 0.368000 Juvenile Hyaline Fibromatosis 31 67 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6191208 6191208 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:6191208G>A ENST00000530810.1 - 1 430 c.349C>T c.(349-351)Ctg>Ttg p.L117L RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGCTAACAGGATAGCTGAC 0.493000 11 95 0 0 1 0 0 ADCYAP1 116 broad.mit.edu 37 18 905426 905426 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:905426C>T ENST00000579794.1 + 1 317 c.39C>T c.(37-39)gtC>gtT p.V13V ADCYAP1_ENST00000450565.3_Silent_p.V13V|RP11-672L10.2_ENST00000581719.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 13 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding p.V13V(1) endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 CCCTGCTGGTCTATGGGATAA 0.637000 16 114 0 0 1 0 0 BBOX1 8424 broad.mit.edu 37 11 27078759 27078759 + Silent SNP A A C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:27078759A>C ENST00000263182.3 + 4 599 c.231A>C c.(229-231)acA>acC p.T77T BBOX1_ENST00000528583.1_Silent_p.T77T|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000529202.1_Silent_p.T77T|BBOX1_ENST00000525090.1_Silent_p.T77T|RP11-1L12.3_ENST00000526061.1_RNA NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 77 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) TGTACATCACATGGCCCGATG 0.388000 18 92 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47306864 47306864 + Missense_Mutation SNP G G C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:47306864G>C ENST00000377065.4 - 5 2944 c.2305C>G c.(2305-2307)Cat>Gat p.H769D ZNF41_ENST00000313116.7_Missense_Mutation_p.H769D|ZNF41_ENST00000397050.2_Missense_Mutation_p.H779D NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 811 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) TCTCCACTATGCATTTTCTGG 0.403000 50 104 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135601986 135601986 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:135601986C>T ENST00000513104.1 - 5 1549 c.1267G>A c.(1267-1269)Gac>Aac p.D423N TRPC7_ENST00000355180.3_Missense_Mutation_p.D362N|TRPC7_ENST00000426057.2_Missense_Mutation_p.D307N NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 423 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTGGGTAGTCTGTGAAGGTT 0.393000 21 113 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457953 45457953 + RNA SNP C C T rs141588874 by1000genomes TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:45457953C>T ENST00000548424.1 + 0 448 AGGAATTTCTCTTTCAGCTTT 0.428000 23 86 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75692404 75692404 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:75692404G>A ENST00000394947.3 - 12 2145 c.1831C>T c.(1831-1833)Cgt>Tgt p.R611C SIN3A_ENST00000360439.4_Missense_Mutation_p.R611C|SIN3A_ENST00000394949.4_Missense_Mutation_p.R611C NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 611 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding p.R611G(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TCTTCACAACGATAAATATGT 0.438000 28 207 0 0 1 0 0 ERLIN2 11160 broad.mit.edu 37 8 37611495 37611495 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:37611495G>A ENST00000276461.5 + 12 949 c.882G>A c.(880-882)aaG>aaA p.K294K ERLIN2_ENST00000519638.1_Silent_p.K294K NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 294 Interaction with ERLIN1. ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCAACAGCAAGATTTACTTTG 0.428000 30 68 0 0 1 0 0 NUTM2A 728118 broad.mit.edu 37 10 88994203 88994203 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:88994203G>A ENST00000381707.2 + 7 2758 c.2375G>A c.(2374-2376)tGg>tAg p.W792* NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Intron NM_001099338.1 NP_001092808.1 NUT family member 2A CCAGAAAAGTGGGGACCCCAG 0.602000 7 36 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 994771 994771 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:994771C>T ENST00000537687.1 + 19 6224 c.5581C>T c.(5581-5583)Cca>Tca p.P1861S WNK1_ENST00000535572.1_Missense_Mutation_p.P1354S|WNK1_ENST00000530271.2_Missense_Mutation_p.P2099S|WNK1_ENST00000340908.4_Missense_Mutation_p.P1194S|WNK1_ENST00000315939.6_Missense_Mutation_p.P1601S NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1601 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ACCTAGTATCCCACCCTTGGT 0.488000 41 251 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380613 147380613 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:147380613C>T ENST00000240986.4 + 2 584 c.531C>T c.(529-531)atC>atT p.I177I GJA8_ENST00000369235.1_Silent_p.I177I NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 177 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GGTTCCGGATCCTGCCTCTGT 0.577000 72 85 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692178 116692178 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:116692178C>T ENST00000357780.3 - 3 710 c.596G>A c.(595-597)gGa>gAa p.G199E NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CGTAAGGCGTCCCTTGAGCTC 0.632000 49 334 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72434032 72434032 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:72434032G>A ENST00000373517.3 - 1 652 c.297C>T c.(295-297)gaC>gaT p.D99D NAP1L2_ENST00000536638.1_5'UTR NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 99 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TTTCAACAAAGTCTGTATCTA 0.443000 47 95 0 0 1 0 0 RGS8 85397 broad.mit.edu 37 1 182617353 182617353 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:182617353C>T ENST00000483095.2 - 6 536 c.279G>A c.(277-279)aaG>aaA p.K93K RGS8_ENST00000367557.4_Silent_p.K93K|RGS8_ENST00000367556.1_Silent_p.K93K|RGS8_ENST00000258302.4_Silent_p.K111K P57771 RGS8_HUMAN regulator of G-protein signaling 8 93 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 ACCTGGTCTTCTTGAACTCCT 0.552000 247 178 0 0 1 0 0 CLEC4E 26253 broad.mit.edu 37 12 8688795 8688795 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:8688795G>A ENST00000299663.3 - 5 544 c.379C>T c.(379-381)Ctt>Ttt p.L127F CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Missense_Mutation_p.L82F NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 127 C-type lectin. integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) TTGTAGGAAAGGAATTCCTAT 0.368000 12 65 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111368527 111368527 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:111368527G>A ENST00000428084.1 - 53 6003 c.5731C>T c.(5731-5733)Ccg>Tcg p.P1911S DOCK4_ENST00000437633.1_Missense_Mutation_p.P1902S|DOCK4_ENST00000494651.2_Missense_Mutation_p.P785S Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1902 Pro-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ACGCTGTACGGGGGCGGAGTC 0.721000 36 45 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185074772 185074772 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:185074772C>T ENST00000296741.2 - 2 497 c.356G>A c.(355-357)gGa>gAa p.G119E NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 119 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) AGGTTCTGATCCATTCCACCA 0.493000 7 71 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137650103 137650103 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:137650103C>T ENST00000371817.3 + 18 2310 c.1896C>T c.(1894-1896)ttC>ttT p.F632F NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 632 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ACCGGGGTTTCGACGGCCTGG 0.627000 15 76 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14485349 14485349 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:14485349C>T ENST00000454876.2 + 3 536 c.207C>T c.(205-207)taC>taT p.Y69Y SLC6A6_ENST00000416216.2_Silent_p.Y69Y|SLC6A6_ENST00000360861.3_Silent_p.Y69Y|SLC6A6_ENST00000484191.1_Intron P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 69 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 GCTTCCCGTACCTCTGCTACA 0.612000 18 74 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141163288 141163288 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:141163288C>T ENST00000514251.1 + 4 2337 c.2058C>T c.(2056-2058)ctC>ctT p.L686L ZBTB38_ENST00000441582.2_Silent_p.L686L|ZBTB38_ENST00000321464.5_Silent_p.L687L Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 686 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 GTTCTGACCTCCGGGCAGGGG 0.463000 67 119 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733449 152733449 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:152733449C>T ENST00000368773.1 + 2 1443 c.1385C>T c.(1384-1386)cCa>cTa p.P462L KPRP_ENST00000606109.1_Missense_Mutation_p.P462L NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 462 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCACGTCCATGCCTGCAG 0.632000 81 120 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28501792 28501792 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:28501792G>A ENST00000412168.2 + 5 603 c.514G>A c.(514-516)Gac>Aac p.D172N GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 172 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) TATATCCTGGGACCCTGTAAA 0.493000 85 147 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50717097 50717097 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:50717097G>A ENST00000449103.1 - 29 4715 c.4575C>T c.(4573-4575)atC>atT p.I1525I PLXNB2_ENST00000359337.4_Silent_p.I1525I O15031 PLXB2_HUMAN plexin B2 1525 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTCCGACAGGATCTGCGCTG 0.652000 7 28 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20651788 20651788 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:20651788C>T ENST00000307493.4 - 7 1178 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.E371K NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 371 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 CCTACCGTTTCCGACTGCCCA 0.493000 10 91 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455005 179455005 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179455005G>A ENST00000589042.1 - 304 61671 c.61447C>T c.(61447-61449)Cgt>Tgt p.R20483C TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17915C|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18842C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11543C|TTN_ENST00000460472.2_Missense_Mutation_p.R11418C|TTN_ENST00000342175.6_Missense_Mutation_p.R11610C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18842 Fibronectin type-III 48. 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) ATAACATCACGACAAGTAACA 0.433000 23 160 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36363479 36363479 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:36363479G>A ENST00000221891.4 + 7 1137 c.945G>A c.(943-945)atG>atA p.M315I APLP1_ENST00000586861.1_Missense_Mutation_p.M309I|APLP1_ENST00000537454.2_Missense_Mutation_p.M276I NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 315 Heparin-binding (By similarity). 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) GGGCCAAGATGGACCTGGAGG 0.557000 26 126 0 0 1 0 0 MRPL2 51069 broad.mit.edu 37 6 43024176 43024176 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:43024176G>A ENST00000388752.3 - 3 697 c.273C>T c.(271-273)atC>atT p.I91I MRPL2_ENST00000230413.5_Silent_p.I91I|MRPL2_ENST00000489623.1_Intron NM_015950.3 NP_057034.2 Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 91 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) CATGCACCCGGATTCGGCCTG 0.532000 15 33 0 0 1 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77244685 77244685 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:77244685C>T ENST00000426126.2 + 17 2468 c.1819C>T c.(1819-1821)Cgt>Tgt p.R607C ZDHHC17_ENST00000334822.5_Missense_Mutation_p.R607C NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 607 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 TGGCCTCTTTCGTCCTGTTAT 0.418000 29 163 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21227189 21227189 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:21227189C>T ENST00000233242.1 - 28 12166 c.12039G>A c.(12037-12039)atG>atA p.M4013I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4013 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CATCTTCATCCATATCCATGC 0.532000 28 92 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85686829 85686829 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:85686829G>A ENST00000521268.1 + 3 1377 c.272G>A c.(271-273)gGa>gAa p.G91E RALYL_ENST00000521695.1_Missense_Mutation_p.G91E|RALYL_ENST00000523850.1_Missense_Mutation_p.G18E|RALYL_ENST00000521376.1_Missense_Mutation_p.G18E|RALYL_ENST00000517638.1_Missense_Mutation_p.G104E|RALYL_ENST00000522455.1_Missense_Mutation_p.G91E|RALYL_ENST00000518566.1_Missense_Mutation_p.G91E NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 91 RRM. identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 AACATGGCAGGAGAGCCCAAA 0.338000 4 13 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36895174 36895174 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:36895174G>A ENST00000310758.4 - 22 2813 c.2166C>T c.(2164-2166)ttC>ttT p.F722F ELMO1_ENST00000396040.2_Silent_p.F242F|ELMO1_ENST00000396045.3_Silent_p.F242F|ELMO1_ENST00000341056.3_Silent_p.F424F|ELMO1_ENST00000448602.1_Silent_p.F722F|ELMO1_ENST00000442504.1_Silent_p.F722F NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 722 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 AGTCATAGACGAAGTCATAGT 0.542000 39 111 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72667173 72667173 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:72667173G>A ENST00000373514.2 + 1 84 c.84G>A c.(82-84)ggG>ggA p.G28G NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 28 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) GCACAGCTGGGACAGGCGGCA 0.602000 11 56 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890126 55890126 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:55890126C>T ENST00000313472.3 + 1 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AACTATATTTCCTTCACGGGC 0.423000 90 554 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545809 82545809 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:82545809A>G ENST00000423517.2 - 7 11830 c.11493T>C c.(11491-11493)cgT>cgC p.R3831R PCLO_ENST00000437081.1_Silent_p.R551R|PCLO_ENST00000333891.8_Silent_p.R3831R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3762 Gln-rich. 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 ACATGTAATCACGATCCTCAG 0.468000 31 223 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166894560 166894560 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:166894560C>T ENST00000423058.2 - 15 2689 c.2672G>A c.(2671-2673)gGa>gAa p.G891E AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.G891E|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G880E|SCN1A_ENST00000409050.1_Missense_Mutation_p.G863E NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 891 voltage-gated sodium channel complex voltage-gated sodium channel activity p.G880E(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGTTAAATTTCCCAGAGCCCC 0.443000 33 93 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128015297 128015297 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:128015297G>A ENST00000493187.2 - 15 2495 c.2032C>T c.(2032-2034)Cgg>Tgg p.R678W ERCC3_ENST00000285398.2_Missense_Mutation_p.R742W P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 742 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) CCAAAGCGCCGAGATGCCTGC 0.488000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 37 96 0 0 1 0 0 NCAPG 64151 broad.mit.edu 37 4 17832625 17832625 + Silent SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:17832625T>C ENST00000251496.2 + 13 1946 c.1770T>C c.(1768-1770)ctT>ctC p.L590L NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 590 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) TTTAGATTCTTCCTGGAATAA 0.343000 10 33 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133948005 133948005 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:133948005G>A ENST00000220616.4 + 25 4977 c.4937G>A c.(4936-4938)cGa>cAa p.R1646Q TG_ENST00000377869.1_Missense_Mutation_p.R1589Q|TG_ENST00000542445.1_Missense_Mutation_p.R80Q NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1646 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTCCAGAAACGAGATGCACTG 0.458000 9 54 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7805042 7805042 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:7805042C>T ENST00000303635.7 + 17 4537 c.4330C>T c.(4330-4332)Cta>Tta p.L1444L CAMTA1_ENST00000439411.2_Silent_p.L1444L|CAMTA1_ENST00000476864.1_Silent_p.L8L NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1444 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGCCAGTTATCTAGCGGATGC 0.527000 T WWTR1 epitheliod hemangioendothelioma 34 70 0 0 1 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593309 1593309 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:1593309G>A ENST00000436493.2 - 0 316 GCCCCGAGCCGATTGGCACCA 0.582000 10 69 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112589821 112589821 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:112589821G>A ENST00000257604.5 + 10 2113 c.1496G>A c.(1495-1497)cGa>cAa p.R499Q TRAFD1_ENST00000412615.2_Missense_Mutation_p.R499Q NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 499 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 GGGCGGAATCGAGACAGCCAG 0.582000 132 167 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110815834 110815834 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:110815834C>T ENST00000375820.4 - 47 4346 c.4225G>A c.(4225-4227)Gag>Aag p.E1409K COL4A1_ENST00000467182.1_5'UTR NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1409 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) GGTCCCATCTCTCCTTTCTGG 0.522000 6 54 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115782742 115782742 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:115782742G>A ENST00000343348.6 - 19 3447 c.2660C>T c.(2659-2661)tCc>tTc p.S887F SEMA6A_ENST00000510263.1_Missense_Mutation_p.S887F|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S904F|SEMA6A_ENST00000282394.6_Missense_Mutation_p.S364F|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S314F|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S266F NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 887 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) GGGACCCAGGGAGGCCTCCCG 0.592000 32 146 0 0 1 0 0 H2AFJ 55766 broad.mit.edu 37 12 14927470 14927470 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:14927470G>A ENST00000544848.1 + 1 201 c.66G>A c.(64-66)gcG>gcA p.A22A NM_177925.2 NP_808760.1 Q9BTM1 H2AJ_HUMAN H2A histone family, member J 22 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1) 5 CCTCCCGCGCGGGCCTGCAGT 0.677000 9 65 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35445942 35445942 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:35445942C>T ENST00000353139.5 - 55 7440 c.6959G>A c.(6958-6960)gGt>gAt p.G2320D ACACA_ENST00000394406.2_Missense_Mutation_p.G2283D|ACACA_ENST00000360679.3_Missense_Mutation_p.G2225D|ACACA_ENST00000361253.5_Missense_Mutation_p.G409D|ACACA_ENST00000335166.5_Missense_Mutation_p.G2205D NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 2283 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CGAGTGAACACCATCCTCCTC 0.483000 84 176 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139180256 139180256 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:139180256C>T ENST00000395297.1 - 12 1310 c.1140G>A c.(1138-1140)cgG>cgA p.R380R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 380 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) ACTCCGAGTTCCGGATATCCA 0.602000 HNSCC(54;0.14) 20 104 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162678 33162678 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:33162678C>T ENST00000510327.1 - 0 346 AAGCTGACTCCTGAGGAAGAA 0.458000 6 31 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43044895 43044895 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:43044895C>T ENST00000267890.6 - 14 2657 c.2549G>A c.(2548-2550)gGa>gAa p.G850E NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 850 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) TTCTGAAGTTCCAACTGTCAG 0.378000 17 115 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106109827 106109827 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:106109827G>A ENST00000390545.2 - 0 693 TCCCGGGATGGGGGCAGGGTG 0.647000 58 183 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606710 55606710 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:55606710C>T ENST00000378396.1 + 1 483 c.483C>T c.(481-483)ctC>ctT p.L161L NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CCCTGACACTCGCGTGCTCTG 0.448000 11 83 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455421 84455421 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:84455421G>A ENST00000377084.2 - 1 1107 c.222C>T c.(220-222)ttC>ttT p.F74F NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 74 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ACTCATTAGGGAAAAGTCGAG 0.463000 12 121 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128680810 128680810 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:128680810G>A ENST00000344954.6 + 9 1575 c.1187G>A c.(1186-1188)gGa>gAa p.G396E FLI1_ENST00000534087.1_Missense_Mutation_p.G396E|FLI1_ENST00000429175.2_Missense_Mutation_p.G429E|FLI1_ENST00000525560.1_Missense_Mutation_p.G236E|FLI1_ENST00000281428.8_Missense_Mutation_p.G363E Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 429 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CCCACGGGGGGAATCTACCCC 0.562000 T EWSR1 Ewing sarcoma 7 141 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103013336 103013336 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:103013336C>T ENST00000409599.1 + 12 1972 c.1616C>T c.(1615-1617)tCc>tTc p.S539F IL18R1_ENST00000233957.1_Missense_Mutation_p.S539F Q13478 IL18R_HUMAN interleukin 18 receptor 1 539 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 CCTGTTCTTTCCGAGTCTTAA 0.418000 14 49 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70978728 70978728 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:70978728C>T ENST00000276594.2 - 5 1126 c.925G>A c.(925-927)Ggt>Agt p.G309S NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 309 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CTCAAATGACCATCTTCAAAG 0.358000 18 139 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11943279 11943279 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:11943279G>A ENST00000304060.5 + 4 1452 c.1288G>A c.(1288-1290)Ggg>Agg p.G430R NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TAAGGAATGTGGGAAAGCCTT 0.413000 37 84 0 0 1 0 0 CLDN18 51208 broad.mit.edu 37 3 137743566 137743566 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:137743566G>A ENST00000183605.5 + 3 729 c.503_splice c.e3+1 p.R168_splice CLDN18_ENST00000343735.4_Splice_Site_p.R168_splice NM_016369.3 NP_057453.1 P56856 CLD18_HUMAN claudin 18 168 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 GTTCAGACCAGGTAACCTCCT 0.453000 46 91 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152534098 152534098 + Missense_Mutation SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:152534098T>A ENST00000427231.2 - 34 3957 c.3755A>T c.(3754-3756)aAc>aTc p.N1252I NEB_ENST00000604864.1_Missense_Mutation_p.N1252I|NEB_ENST00000397345.3_Missense_Mutation_p.N1252I|NEB_ENST00000409198.1_Missense_Mutation_p.N1252I|NEB_ENST00000603639.1_Missense_Mutation_p.N1252I|NEB_ENST00000172853.10_Missense_Mutation_p.N1252I NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1252 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTGCTTCGTGTTCTGTTTTGC 0.418000 21 95 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54967504 54967504 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:54967504C>T ENST00000394636.4 + 3 1508 c.1171C>T c.(1171-1173)Cct>Tct p.P391S IRX5_ENST00000560154.1_Missense_Mutation_p.P171S|IRX5_ENST00000558597.1_Missense_Mutation_p.P325S|IRX5_ENST00000320990.5_Missense_Mutation_p.P390S P78411 IRX5_HUMAN iroquois homeobox 5 391 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GGCGCAGTGTCCTTTTCCAGG 0.692000 14 23 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38557173 38557173 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:38557173G>A ENST00000423485.1 - 21 2751 c.2593C>T c.(2593-2595)Ccc>Tcc p.P865S NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 865 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TCAAAGTTGGGGATTTTGCAG 0.438000 111 266 0 0 1 0 0 FAM175B 23172 broad.mit.edu 37 10 126523218 126523218 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:126523218C>T ENST00000298492.5 + 9 971 c.926C>T c.(925-927)tCt>tTt p.S309F NM_032182.3 NP_115558.3 Q15018 F175B_HUMAN family with sequence similarity 175, member B 309 BRISC complex polyubiquitin binding NS(1) 1 CCCCCTTACTCTGATTTTCAC 0.517000 14 54 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33510488 33510488 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:33510488C>T ENST00000268876.5 + 19 2519 c.2422C>T c.(2422-2424)Ctg>Ttg p.L808L UNC45B_ENST00000394570.2_Silent_p.L806L|UNC45B_ENST00000433649.1_Silent_p.L806L|UNC45B_ENST00000378449.1_Silent_p.L727L|UNC45B_ENST00000591048.1_Silent_p.L727L NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 808 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CCGGCTGAAGCTGGTGGTGCT 0.572000 11 47 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56191271 56191271 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:56191271G>A ENST00000361673.3 - 7 5738 c.5525C>T c.(5524-5526)tCc>tTc p.S1842F NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1842 Ig-like 2. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GATGGCAAAGGAAACAGTGGA 0.433000 8 48 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18838568 18838568 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:18838568G>A ENST00000541695.1 - 10 1229 c.1205C>T c.(1204-1206)cCa>cTa p.P402L PLCZ1_ENST00000538330.1_Intron|PLCZ1_ENST00000266505.7_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Intron|PLCZ1_ENST00000534932.1_Intron Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 0 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) ggctcatgctggaataatgac 0.388000 5 36 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71740925 71740925 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:71740925C>T ENST00000269500.5 - 10 1411 c.1076G>A c.(1075-1077)gGg>gAg p.G359E FBXO15_ENST00000419743.2_Missense_Mutation_p.G435E|FBXO15_ENST00000580806.1_5'UTR NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 359 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) AAAGGGTTTCCCATGTTCATC 0.463000 25 170 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47840434 47840434 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:47840434C>T ENST00000289672.2 - 54 8056 c.8006G>A c.(8005-8007)cGa>cAa p.R2669Q C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2669 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GAGCAGAAATCGGTGCAGGTG 0.552000 20 83 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 34269257 34269257 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:34269257G>A ENST00000346562.2 + 11 1722 c.1648G>A c.(1648-1650)Gac>Aac p.D550N NPAS3_ENST00000551492.1_Missense_Mutation_p.D587N|NPAS3_ENST00000357798.5_Missense_Mutation_p.D569N|NPAS3_ENST00000548645.1_Missense_Mutation_p.D552N|NPAS3_ENST00000356141.4_Missense_Mutation_p.D582N NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 582 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CAGCGCCAAGGACTCGGACAG 0.672000 3 19 0 0 1 0 0 SHE 126669 broad.mit.edu 37 1 154474134 154474134 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:154474134G>A ENST00000304760.2 - 1 455 c.369C>T c.(367-369)tcC>tcT p.S123S NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 123 breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CCGTGGCCCGGGAGTTTTTGC 0.682000 15 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179495927 179495927 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179495927C>T ENST00000589042.1 - 237 44072 c.43848G>A c.(43846-43848)gtG>gtA p.V14616V TTN_ENST00000342992.6_Silent_p.V12048V|TTN_ENST00000591111.1_Silent_p.V12975V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V5676V|TTN_ENST00000460472.2_Silent_p.V5551V|TTN_ENST00000342175.6_Silent_p.V5743V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12975 Ig-like 96. 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) TAAACCATTTCACTGGTGCAT 0.373000 10 34 0 0 1 0 0 SLC26A2 1836 broad.mit.edu 37 5 149357872 149357872 + Silent SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:149357872T>C ENST00000286298.4 + 2 925 c.657T>C c.(655-657)atT>atC p.I219I NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 219 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GCTATGCAATTATGGTTGGCA 0.363000 26 89 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9402065 9402065 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:9402065G>A ENST00000378501.2 + 23 2255 c.2240G>A c.(2239-2241)gGa>gAa p.G747E PLCB4_ENST00000378493.1_Missense_Mutation_p.G747E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G759E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G747E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G747E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G759E NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 747 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ATGAATAATGGACTCAATCCA 0.403000 12 100 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17846827 17846827 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:17846827C>T ENST00000448223.2 - 28 3484 c.3215G>A c.(3214-3216)aGa>aAa p.R1072K SMC6_ENST00000402989.1_Missense_Mutation_p.R1072K|SMC6_ENST00000351948.4_Missense_Mutation_p.R1072K|SMC6_ENST00000381272.4_Missense_Mutation_p.R1098K NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 1072 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGTTTGTCCTCTTTCAGGATC 0.373000 22 71 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145442215 145442215 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:145442215C>T ENST00000511217.1 + 9 2193 c.2141C>T c.(2140-2142)aCc>aTc p.T714I SH3RF2_ENST00000359120.4_Missense_Mutation_p.T714I|SH3RF2_ENST00000511705.1_3'UTR Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 714 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGGCCACAACCCTGGTGTCC 0.552000 9 57 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132047150 132047150 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:132047150C>T ENST00000336375.5 + 2 250 c.160C>T c.(160-162)Ccc>Tcc p.P54S ACPP_ENST00000475741.1_Missense_Mutation_p.P54S|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Missense_Mutation_p.P54S NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 54 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 TGACACCTTTCCCACTGACCC 0.473000 19 117 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52960700 52960700 + Missense_Mutation SNP G G A rs143324533 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:52960700G>A ENST00000295213.4 + 12 1945 c.1571G>A c.(1570-1572)cGa>cAa p.R524Q SPATA18_ENST00000419395.2_Missense_Mutation_p.R492Q NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 524 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) CAGATGTCTCGAAGTCGGAGT 0.343000 31 48 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37547161 37547161 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:37547161C>T ENST00000299824.1 + 11 1745 c.1556C>T c.(1555-1557)cCc>cTc p.P519L PPP1R16B_ENST00000373331.2_Missense_Mutation_p.P477L NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 519 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GGCAAGGCCCCCTTGATCGGA 0.607000 9 66 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53845343 53845343 + Silent SNP C C T rs34734703 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:53845343C>T ENST00000288139.3 + 49 6574 c.6456C>T c.(6454-6456)gaC>gaT p.D2152D CACNA1D_ENST00000422281.2_Silent_p.D2108D|CACNA1D_ENST00000350061.5_Silent_p.D2132D NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 2132 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) AGCTACAGGACTTTGGTCCTG 0.607000 12 112 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585448 70585448 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:70585448G>A ENST00000260126.3 - 10 2909 c.2203C>T c.(2203-2205)Cgt>Tgt p.R735C SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R680C NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 735 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TACACAAAACGAAACGACGTC 0.463000 53 195 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29080339 29080339 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:29080339C>T ENST00000377169.1 + 1 672 c.672C>T c.(670-672)atC>atT p.I224I NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I224I(1) endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 ATGGTGCCATCGTCCGAGCTA 0.458000 24 124 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713849 70713849 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:70713849C>T ENST00000530196.1 - 0 669 NR_003951.1 ACTTCCTTCTCTGTTAAGCTA 0.438000 21 73 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123787498 123787498 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:123787498G>A ENST00000422452.2 - 7 1367 c.1304C>T c.(1303-1305)tCt>tTt p.S435F TENM1_ENST00000371130.3_Missense_Mutation_p.S435F NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTTGGCTAAAGAAATATTGAA 0.388000 71 175 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47746064 47746064 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:47746064G>A ENST00000360380.3 - 13 2429 c.2066C>T c.(2065-2067)cCt>cTt p.P689L STIL_ENST00000243182.6_Missense_Mutation_p.P689L|STIL_ENST00000371877.3_Missense_Mutation_p.P689L|STIL_ENST00000337817.5_Missense_Mutation_p.P689L|STIL_ENST00000396221.2_Missense_Mutation_p.P689L Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 689 PIN1-binding (By similarity). 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) CATATGTGAAGGCGGTCTTGC 0.483000 70 95 0 0 1 0 0 TMEM161B 153396 broad.mit.edu 37 5 87492051 87492051 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:87492051G>A ENST00000296595.6 - 12 1565 c.1441C>T c.(1441-1443)Cac>Tac p.H481Y TMEM161B_ENST00000506536.1_3'UTR|TMEM161B_ENST00000511218.1_Missense_Mutation_p.H272Y|TMEM161B_ENST00000514135.1_Intron|TMEM161B_ENST00000512429.1_Missense_Mutation_p.H470Y NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 481 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) AGATACTGGTGATAGAAAAGC 0.378000 9 33 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35032909 35032909 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:35032909G>A ENST00000231420.6 - 7 897 c.697C>T c.(697-699)Cgt>Tgt p.R233C NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 233 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CAAGGGCCACGAAAAACATCT 0.522000 7 11 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158637738 158637738 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:158637738C>T ENST00000368148.3 - 15 2128 c.1948G>A c.(1948-1950)Ggt>Agt p.G650S SPTA1_ENST00000368147.3_Missense_Mutation_p.G650S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 650 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TAGTGACCACCCTCAATCATC 0.468000 93 97 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2749815 2749815 + Silent SNP G G T rs138413279 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:2749815G>T ENST00000382611.6 - 2 584 c.336C>A c.(334-336)ctC>ctA p.L112L IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.L112L NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 112 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) CGGGGTCGTTGAGCTGGTACG 0.682000 10 71 1.76689e-08 1.77832e-08 1 1 0 SRD5A2 6716 broad.mit.edu 37 2 31754406 31754406 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:31754406G>A ENST00000405650.1 - 0 834 AL133247.2_ENST00000435713.1_RNA P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GCAGCCCAAGGAAACAAAGTG 0.473000 19 48 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62255041 62255041 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:62255041G>A ENST00000261517.5 - 33 3415 c.3342C>T c.(3340-3342)tcC>tcT p.S1114S VPS13C_ENST00000249837.3_Silent_p.S1071S|VPS13C_ENST00000395896.4_Silent_p.S1114S|VPS13C_ENST00000395898.3_Silent_p.S1071S NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1114 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GAGAAAGGGAGGAATCCAGTC 0.343000 4 51 0 0 1 0 0 NPVF 64111 broad.mit.edu 37 7 25266532 25266532 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:25266532G>A ENST00000222674.2 - 2 298 c.252C>T c.(250-252)tcC>tcT p.S84S NM_022150.3 NP_071433.3 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 84 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 AGTTGGCGAAGGAGTGTGGCA 0.428000 31 226 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75330509 75330509 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:75330509G>A ENST00000556084.2 - 1 28 c.29C>T c.(28-30)cCt>cTt p.P10L PROX2_ENST00000445876.1_Missense_Mutation_p.P10L|PROX2_ENST00000556489.2_Missense_Mutation_p.P10L NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 10 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) CTGGGGCTGAGGAGAAAGCAA 0.547000 24 48 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44611036 44611036 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:44611036C>T ENST00000336976.6 + 6 977 c.723C>T c.(721-723)ttC>ttT p.F241F AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 241 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GGAAAGGCTTCAGTCGTAGAT 0.438000 54 287 0 0 1 0 0 CNPPD1 27013 broad.mit.edu 37 2 220037323 220037323 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:220037323G>A ENST00000409789.1 - 9 1645 c.1218C>T c.(1216-1218)ttC>ttT p.F406F CNPPD1_ENST00000360507.5_Silent_p.F406F Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 406 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 CTGGGAAAACGAAAGACTTGA 0.542000 32 139 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835154 12835154 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:12835154C>T ENST00000357726.4 + 1 171 c.144C>T c.(142-144)tgC>tgT p.C48C NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 48 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGAGATGCTGCGAGACCC 0.582000 55 75 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39644531 39644531 + Missense_Mutation SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:39644531C>A ENST00000393986.2 - 4 725 c.513G>T c.(511-513)aaG>aaT p.K171N KRT36_ENST00000328119.6_Missense_Mutation_p.K221N O76013 KRT36_HUMAN keratin 36 221 Coil 1B.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) TCAGCTCCTCCTTCAGGGACT 0.592000 24 108 7.92952e-12 7.99373e-12 1 1 0 TRIM71 131405 broad.mit.edu 37 3 32932625 32932625 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:32932625C>T ENST00000383763.4 + 4 1992 c.1929C>T c.(1927-1929)ttC>ttT p.F643F NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 643 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACCACAAATTCGGCACCCTGG 0.632000 9 58 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51516172 51516172 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:51516172G>A ENST00000328188.1 + 1 891 c.891G>A c.(889-891)agG>agA p.R297R NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 ATGCCATCAGGAAATTGTGTA 0.348000 12 45 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 130851631 130851631 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:130851631G>A ENST00000383366.4 + 6 791 c.498G>A c.(496-498)ctG>ctA p.L166L NEK11_ENST00000511262.1_Silent_p.L166L|NEK11_ENST00000510688.1_Silent_p.L166L|NEK11_ENST00000356918.4_Silent_p.L166L|NEK11_ENST00000510769.1_Silent_p.L166L|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000508196.1_Silent_p.L166L|NEK11_ENST00000507910.1_Silent_p.L166L|NEK11_ENST00000412440.2_Silent_p.L18L|NEK11_ENST00000429253.2_Silent_p.L166L NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 166 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 ATGTATTTCTGAAAAATAATC 0.269000 7 15 0 0 1 0 0 TRAV3 28690 broad.mit.edu 37 14 22192442 22192442 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:22192442G>A ENST00000390425.2 + 0 393 CATCACAGGGGATAACCTGGT 0.463000 37 84 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103179761 103179761 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:103179761C>T ENST00000424685.2 - 45 7103 c.6944G>A c.(6943-6945)gGa>gAa p.G2315E RELN_ENST00000343529.5_Missense_Mutation_p.G2315E|RELN_ENST00000428762.1_Missense_Mutation_p.G2315E P78509 RELN_HUMAN reelin 2315 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) AGAAATATTTCCTCCAATAAG 0.373000 20 44 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65273607 65273607 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:65273607C>T ENST00000534336.1 + 0 8375 NR_002819.2 GGTTGGCACTCCTGGTTTCCA 0.418000 9 62 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103050937 103050937 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:103050937G>A ENST00000306312.3 - 7 891 c.630C>T c.(628-630)gtC>gtT p.V210V SLC26A5_ENST00000393723.1_Silent_p.V210V|SLC26A5_ENST00000393729.1_Silent_p.V173V|SLC26A5_ENST00000393730.1_Silent_p.V210V|SLC26A5_ENST00000393735.2_Silent_p.V210V|SLC26A5_ENST00000356767.4_Silent_p.V210V|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Silent_p.V210V|SLC26A5_ENST00000432958.2_Silent_p.V210V|SLC26A5_ENST00000393727.1_Silent_p.V210V NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 210 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 TAAACCCACGGACCAGAGGCT 0.413000 9 79 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671516 39671516 + Silent SNP G G A rs142632089 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:39671516G>A ENST00000398930.1 + 4 687 c.333G>A c.(331-333)gtG>gtA p.V111V KCNJ15_ENST00000398938.2_Silent_p.V111V|KCNJ15_ENST00000328656.3_Silent_p.V111V|KCNJ15_ENST00000398932.1_Silent_p.V111V|KCNJ15_ENST00000398934.1_Silent_p.V111V Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 111 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 TCATGAAAGTGGACTCTCTCA 0.493000 42 139 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28971080 28971080 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:28971080C>T ENST00000359747.4 + 7 753 c.724C>T c.(724-726)Cgg>Tgg p.R242W RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.R242W|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 242 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGGCTCAGATCGGGATGGAGC 0.408000 7 70 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25460699 25460699 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:25460699G>A ENST00000424208.1 + 0 2739 SNORD115-25_ENST00000362619.1_RNA NR_003305.1 GGTCGATTATGAGAACCTTAT 0.522000 71 386 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109782121 109782121 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:109782121G>A ENST00000399132.1 - 23 1734 c.1204C>T c.(1204-1206)Cgt>Tgt p.R402C COL25A1_ENST00000399126.1_Missense_Mutation_p.R402C|COL25A1_ENST00000399127.1_Missense_Mutation_p.R383C NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 402 Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TTTTCTCCACGATCCCCCTTT 0.438000 6 65 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744698 140744698 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:140744698G>A ENST00000518069.1 + 1 801 c.801G>A c.(799-801)acG>acA p.T267T PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAACCGCCACGGATCCAGATG 0.498000 17 80 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26348335 26348335 + Silent SNP C C T rs138691912 by1000genomes TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:26348335C>T ENST00000335473.7 + 38 6166 c.5916C>T c.(5914-5916)atC>atT p.I1972I MYO18B_ENST00000536101.1_Silent_p.I1972I|MYO18B_ENST00000407587.2_Silent_p.I1973I NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1972 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGGCGGTCATCTGTGACCTAG 0.517000 7 26 0 0 1 0 0 LMX1B 4010 broad.mit.edu 37 9 129458637 129458637 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:129458637C>T ENST00000355497.5 + 8 1135 c.1128C>T c.(1126-1128)ttC>ttT p.F376F LMX1B_ENST00000526117.1_Silent_p.F365F|LMX1B_ENST00000425646.2_Silent_p.F342F|LMX1B_ENST00000373474.4_Silent_p.F372F|LMX1B_ENST00000561065.1_Silent_p.F353F NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 349 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 GCGACTGCTTCCTCGGCTCCT 0.627000 Nail-Patella Syndrome 35 170 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103119961 103119961 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:103119961G>A ENST00000295269.4 + 3 1232 c.775G>A c.(775-777)Gaa>Aaa p.E259K NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 259 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 TGAAGACATAGAAACTGTCGA 0.353000 8 50 0 0 1 0 0 ZNF530 348327 broad.mit.edu 37 19 58118648 58118648 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:58118648C>T ENST00000332854.6 + 3 1975 c.1755C>T c.(1753-1755)agC>agT p.S585S ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AATCCTTTAGCCAAAGCTCTG 0.383000 13 114 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144852412 144852412 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:144852412G>A ENST00000369356.4 - 44 7321 c.7031C>T c.(7030-7032)tCc>tTc p.S2344F PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_3'UTR|PDE4DIP_ENST00000369359.4_3'UTR|PDE4DIP_ENST00000313382.9_3'UTR|PDE4DIP_ENST00000530740.1_3'UTR NM_001198834.2|NM_014644.4 NP_001185763.2|NP_055459.4 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1955 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTGTTTTAAGGACTTCTGGTG 0.557000 T PDGFRB MPD 17 41 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83331464 83331464 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:83331464G>A ENST00000261722.3 - 22 2965 c.2758C>T c.(2758-2760)Caa>Taa p.Q920* AP3B2_ENST00000535359.1_Nonsense_Mutation_p.Q939*|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Nonsense_Mutation_p.Q888* NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 920 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GGAAATTCTTGGATGCTGATG 0.562000 5 19 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951558 119951558 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:119951558C>T ENST00000307142.4 + 4 1824 c.1628C>T c.(1627-1629)tCg>tTg p.S543L SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.S543L|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S543L NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 543 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding p.S543L(2) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GAGGAAGAGTCGGTAAGAACG 0.517000 45 72 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55791485 55791485 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:55791485G>A ENST00000272313.5 - 13 2296 c.1969C>T c.(1969-1971)Cca>Tca p.P657S SMEK2_ENST00000407823.3_Missense_Mutation_p.P710S|SMEK2_ENST00000345102.5_Missense_Mutation_p.P742S NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 742 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TAATTATCTGGAAAATCATCT 0.348000 37 44 0 0 1 0 0 KIF18B 146909 broad.mit.edu 37 17 43004409 43004409 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:43004409G>A ENST00000587309.1 - 14 2373 c.2350C>T c.(2350-2352)Cca>Tca p.P784S KIF18B_ENST00000593135.1_Missense_Mutation_p.P772S|KIF18B_ENST00000590129.1_Missense_Mutation_p.P793S|KIF18B_ENST00000339151.4_Missense_Mutation_p.P775S|KIF18B_ENST00000438933.2_Missense_Mutation_p.P784S NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) GAAGATGTTGGCTTGGGGCCC 0.617000 3 16 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22939100 22939100 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:22939100C>T ENST00000397104.3 - 8 3020 c.3021G>A c.(3019-3021)ggG>ggA p.G1007G 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) TGTAGGTTTTCCCTCCAGTAT 0.378000 10 75 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188012 140188012 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:140188012G>A ENST00000530339.1 + 1 1240 c.1240G>A c.(1240-1242)Gac>Aac p.D414N PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D414N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D414N NM_018907.2 NP_061730.1 p.D414Y(2) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGCCCTGGACCGCGAGAG 0.617000 31 195 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57797279 57797279 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:57797279C>T ENST00000309042.7 + 4 2569 c.2255C>T c.(2254-2256)cCc>cTc p.P752L NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 752 Pro-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) CTGTCTCCTCCCATGGAGGTG 0.557000 99 616 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138455971 138455971 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:138455971C>T ENST00000310018.2 - 3 304 c.22G>A c.(22-24)Gag>Aag p.E8K ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.E8K|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.E8K|ATP6V0A4_ENST00000483139.1_5'UTR NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 8 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CACATCTCCTCGCTTCGAAAC 0.443000 34 369 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108718808 108718808 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:108718808C>T ENST00000218006.2 - 2 649 c.358G>A c.(358-360)Gcc>Acc p.A120T NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 120 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 AATCCTGAGGCCATCTGGTGG 0.493000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 385 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70954506 70954506 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:70954506C>T ENST00000334414.6 - 17 4421 c.4377G>A c.(4375-4377)tgG>tgA p.W1459* PTPRB_ENST00000451516.2_Nonsense_Mutation_p.W1151*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.W1458*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.W1151*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.W1241*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.W1151*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.W1371* NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1241 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GAGTTACCACCCACAGCACGT 0.517000 27 47 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27787906 27787906 + Missense_Mutation SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:27787906T>A ENST00000318304.8 + 4 411 c.128T>A c.(127-129)aTg>aAg p.M43K PPFIBP1_ENST00000535047.1_Missense_Mutation_p.M43K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.M43K|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.M43K|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.M43K NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 43 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) TCTCCATTCATGGGAAGTTTG 0.443000 24 160 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849381 73849381 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:73849381G>A ENST00000523207.1 + 3 2379 c.1791G>A c.(1789-1791)atG>atA p.M597I NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 597 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) TTGTGGACATGAAGAGCACCT 0.572000 22 137 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169532974 169532974 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:169532974G>A ENST00000449804.2 + 1 58 c.13G>A c.(13-15)Gac>Aac p.D5N FOXI1_ENST00000306268.6_Missense_Mutation_p.D5N NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 5 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGCTCCTTCGACCTGCCGGC 0.697000 Pendred syndrome 3 27 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616450 77616450 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:77616450G>A ENST00000521891.2 + 2 575 c.127G>A c.(127-129)Gaa>Aaa p.E43K ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E43K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E43K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E43K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 43 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTGACAGGGAAAACAGCTC 0.502000 HNSCC(33;0.089) 18 71 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43762408 43762408 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:43762408G>A ENST00000244293.7 - 4 976 c.910C>T c.(910-912)Cat>Tat p.H304Y PSG9_ENST00000418820.2_Missense_Mutation_p.H304Y|PSG9_ENST00000596730.1_Missense_Mutation_p.H211Y|PSG9_ENST00000270077.3_Missense_Mutation_p.H397Y|PSG9_ENST00000593948.1_Missense_Mutation_p.H304Y|PSG9_ENST00000443718.3_Missense_Mutation_p.H304Y|PSG9_ENST00000291752.5_Missense_Mutation_p.H211Y Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 313 Ig-like C2-type 2. 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) GCTGAGTTATGAACAGAGCAA 0.433000 52 370 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47168901 47168901 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:47168901G>A ENST00000447411.1 - 13 1436 c.1230C>T c.(1228-1230)atC>atT p.I410I SLC38A4_ENST00000266579.4_Silent_p.I410I NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 410 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TGAGAAGGGGGATGTCTAATG 0.428000 64 91 0 0 1 0 0 MFSD1 64747 broad.mit.edu 37 3 158523177 158523177 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:158523177C>T ENST00000415822.2 + 3 531 c.390C>T c.(388-390)ttC>ttT p.F130F MFSD1_ENST00000264266.8_Silent_p.F81F|MFSD1_ENST00000392813.4_Intron NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 81 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) CCACGAAATTCATGCTGCTGT 0.333000 31 318 0 0 1 0 0 OR5V1 81696 broad.mit.edu 37 6 29323679 29323679 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:29323679C>T ENST00000377154.1 - 4 593 c.294G>A c.(292-294)gtG>gtA p.V98V OR5V1_ENST00000543825.1_Silent_p.V98V Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAAGTTGAACCACACACCCCA 0.428000 15 135 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836841 43836841 + Silent SNP A A C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:43836841A>C ENST00000372781.3 + 2 960 c.903A>C c.(901-903)ggA>ggC p.G301G SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) TCCACTATGGAGAAAATGGTG 0.388000 38 91 0 0 1 0 0 UBR7 55148 broad.mit.edu 37 14 93684979 93684979 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:93684979C>T ENST00000013070.6 + 7 944 c.708C>T c.(706-708)ctC>ctT p.L236L UBR7_ENST00000416753.1_Silent_p.L160L NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) 236 ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 ATAGTACCCTCAAAGAGGATG 0.448000 16 95 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40417690 40417690 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:40417690C>T ENST00000333407.5 + 4 1270 c.1176C>T c.(1174-1176)ccC>ccT p.P392P FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 392 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 AGCCCATCCCCTTGGGAGAGC 0.647000 12 32 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 168014329 168014329 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:168014329T>C ENST00000367840.3 + 16 2216 c.2122T>C c.(2122-2124)Ttc>Ctc p.F708L DCAF6_ENST00000367843.3_Missense_Mutation_p.F651L|DCAF6_ENST00000432587.2_Missense_Mutation_p.F677L|DCAF6_ENST00000312263.6_Missense_Mutation_p.F631L NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 631 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TGAGCCTCAGTTCCAAACAGA 0.468000 62 37 0 0 1 0 0 CHKB 1120 broad.mit.edu 37 22 51020221 51020221 + Missense_Mutation SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:51020221A>G ENST00000406938.2 - 3 621 c.404T>C c.(403-405)cTg>cCg p.L135P CHKB_ENST00000463053.1_5'UTR NM_005198.4 NP_005189.2 Q9Y259 CHKB_HUMAN choline kinase beta 135 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1) 15 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) GACTCCGTACAGCTGGGGCCC 0.622000 37 121 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13719166 13719166 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:13719166G>A ENST00000265104.4 - 72 12428 c.12324C>T c.(12322-12324)ttC>ttT p.F4108F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4108 AAA 6 (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) GCTCATCCATGAAATCAAGTC 0.443000 Kartagener syndrome 15 67 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726944 63726944 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:63726944C>T ENST00000421025.1 + 5 1202 c.933C>T c.(931-933)ctC>ctT p.L311L ZNF679_ENST00000255746.4_Silent_p.L311L NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 CCTCATCCCTCACTTACCACA 0.423000 29 59 0 0 1 0 0 SAMM50 25813 broad.mit.edu 37 22 44385092 44385092 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:44385092A>T ENST00000350028.4 + 13 1334 c.1177A>T c.(1177-1179)Aca>Tca p.T393S SAMM50_ENST00000396202.3_Missense_Mutation_p.T183S NM_015380.4 NP_056195.3 Q9Y512 SAM50_HUMAN SAMM50 sorting and assembly machinery component 393 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) ACTTTTCCGAACACACTTCTT 0.488000 28 139 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903793 4903793 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:4903793C>T ENST00000380378.1 + 1 745 c.745C>T c.(745-747)Ctg>Ttg p.L249L MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.L222L|MMP26_ENST00000380390.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCCTATGTCCTGATCCTCCG 0.433000 25 70 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96762039 96762039 + Missense_Mutation SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:96762039T>A ENST00000295266.4 + 1 801 c.738T>A c.(736-738)ttT>ttA p.F246L NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 246 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GGGGCAATTTTATCCCTGGGC 0.443000 37 72 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8060506 8060506 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:8060506C>T ENST00000305253.4 + 1 327 c.86C>T c.(85-87)cCc>cTc p.P29L TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000526646.1_RNA|RP11-236J17.6_ENST00000528151.1_RNA NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 0 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) ACTCCCTGGCCCATGGGATCT 0.557000 54 114 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482600 94482600 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:94482600G>A ENST00000377047.4 + 3 1128 c.513G>A c.(511-513)cgG>cgA p.R171R GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 171 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TCCTGGAACGGATGTTTCAGC 0.488000 14 92 0 0 1 0 0 TTPA 7274 broad.mit.edu 37 8 63978596 63978596 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:63978596G>A ENST00000260116.4 - 3 450 c.419C>T c.(418-420)tCc>tTc p.S140F TTPA_ENST00000521138.1_Intron NM_000370.3 NP_000361.1 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 140 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) AATAAGCTCGGATGTGATTAG 0.383000 8 68 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30806793 30806793 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:30806793G>A ENST00000383096.3 - 16 1802 c.1620C>T c.(1618-1620)ctC>ctT p.L540L CCDC178_ENST00000583930.1_Silent_p.L540L|CCDC178_ENST00000403303.1_Silent_p.L540L|CCDC178_ENST00000406524.2_Silent_p.L540L|CCDC178_ENST00000579947.1_Silent_p.L540L|CCDC178_ENST00000300227.8_Silent_p.L540L|CCDC178_ENST00000402325.1_Silent_p.L540L|CCDC178_ENST00000579916.1_Intron coiled-coil domain containing 178 CACCTTGAGTGAGTTTTTTCA 0.284000 14 52 0 0 1 0 0 SAFB2 9667 broad.mit.edu 37 19 5594150 5594150 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:5594150G>A ENST00000252542.4 - 15 2223 c.1959C>T c.(1957-1959)gcC>gcT p.A653A NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 653 Arg-rich.|Glu-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) GCTCATGGAAGGCCTCGAGGC 0.711000 4 34 0 0 1 0 0 PLD2 5338 broad.mit.edu 37 17 4711409 4711409 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:4711409G>A ENST00000263088.6 + 3 371 c.240_splice c.e3+1 p.K80_splice PLD2_ENST00000572940.1_Splice_Site_p.K80_splice NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 80 PX. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) GCGGATCCAAGGTGGCCAGAC 0.642000 12 85 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79373445 79373445 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:79373445G>A ENST00000264895.6 + 47 7140 c.6700G>A c.(6700-6702)Gaa>Aaa p.E2234K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2233 cell communication integral to membrane|plasma membrane metal ion binding p.E2234K(1)|p.E2235K(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGGGCCTACAGAATTGATCTA 0.473000 8 81 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235706 3235706 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:3235706C>T ENST00000217939.6 - 6 6170 c.6016G>A c.(6016-6018)Gaa>Aaa p.E2006K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2006 Ig-like C2-type 4. 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) GTCCGGTTTTCGTGCAGGGTG 0.622000 13 53 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25581166 25581166 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:25581166C>T ENST00000329474.6 + 30 3125 c.2757C>T c.(2755-2757)tcC>tcT p.S919S NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 919 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CCCCTAAATCCAAAAGGAAGA 0.403000 5 15 0 0 1 0 0 MTIF2 4528 broad.mit.edu 37 2 55473528 55473528 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:55473528G>A ENST00000394600.3 - 11 1787 c.1051C>T c.(1051-1053)Ccc>Tcc p.P351S MTIF2_ENST00000263629.4_Missense_Mutation_p.P351S|MTIF2_ENST00000403721.1_Missense_Mutation_p.P351S NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 351 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 GGACCATTGGGATCTGCTTTC 0.388000 59 109 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50381220 50381220 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:50381220G>A ENST00000376020.2 - 3 383 c.358C>T c.(358-360)Cct>Tct p.P120S SHROOM4_ENST00000289292.7_Missense_Mutation_p.P120S|SHROOM4_ENST00000460112.3_Missense_Mutation_p.P4S NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 120 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GCTTCAGAAGGGAAATGCATG 0.577000 14 22 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7079044 7079044 + Silent SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:7079044T>C ENST00000299481.4 + 7 2774 c.2428T>C c.(2428-2430)Tta>Cta p.L810L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 810 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTGTGAGGCCTTAAGACATCC 0.388000 44 132 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48312994 48312994 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:48312994C>T ENST00000435803.1 + 17 3755 c.3731C>T c.(3730-3732)tCa>tTa p.S1244L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1244 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCATTAGTTTCAGTAAAAAAA 0.383000 5 25 0 0 1 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106691977 106691977 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:106691977C>T ENST00000390607.2 - 0 125 ACACTGGACACCTGCAAACAG 0.522000 26 287 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141777534 141777534 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:141777534C>T ENST00000389484.3 - 12 2898 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 643 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) TGAGACATTTCACCCTCTAAA 0.373000 TSP Lung(27;0.18) 33 92 0 0 1 0 0 IL17C 27189 broad.mit.edu 37 16 88705577 88705577 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:88705577C>T ENST00000244241.4 + 2 244 c.195C>T c.(193-195)gcC>gcT p.A65A NM_013278.3 NP_037410.1 Q9P0M4 IL17C_HUMAN interleukin 17C 65 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0477) TGCCTGTAGCCCTGGTGTCCA 0.692000 13 31 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131888140 131888140 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:131888140C>T ENST00000359827.3 - 11 3299 c.2337G>A c.(2335-2337)gtG>gtA p.V779V PLXNA4_ENST00000321063.4_Silent_p.V779V Q9HCM2 PLXA4_HUMAN plexin A4 779 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CTGTCAACTCCACGGGCAGGT 0.557000 89 77 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34004158 34004158 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:34004158G>A ENST00000374181.3 - 8 1898 c.1729C>T c.(1729-1731)Ccc>Tcc p.P577S GRM4_ENST00000544773.1_Missense_Mutation_p.P408S|GRM4_ENST00000374177.3_Missense_Mutation_p.P461S|GRM4_ENST00000545715.1_Missense_Mutation_p.P269S|GRM4_ENST00000455714.2_Missense_Mutation_p.P437S|GRM4_ENST00000538487.1_Missense_Mutation_p.P577S|GRM4_ENST00000535756.1_Missense_Mutation_p.P444S NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 577 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TTGATGATGGGGATGGGCCGG 0.632000 28 31 0 0 1 0 0 CLCC1 23155 broad.mit.edu 37 1 109486497 109486497 + Silent SNP G G A rs138361021 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:109486497G>A ENST00000369971.2 - 5 651 c.522C>T c.(520-522)ttC>ttT p.F174F CLCC1_ENST00000369970.3_Silent_p.F124F|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000356970.2_Silent_p.F174F|CLCC1_ENST00000369976.1_Silent_p.F174F|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000415331.1_Silent_p.F124F|CLCC1_ENST00000369969.2_Intron|CLCC1_ENST00000302500.4_Intron NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 174 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) AGGAATCTTCGAATCGCCACT 0.363000 30 35 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76372145 76372145 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:76372145G>A ENST00000407242.2 - 3 734 c.492C>T c.(490-492)ctC>ctT p.L164L AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.L164L|LRRC32_ENST00000260061.5_Silent_p.L164L NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 164 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 TGTGGCGGGTGAGGCGAGTCA 0.647000 7 95 0 0 1 0 0 C11orf40 143501 broad.mit.edu 37 11 4593483 4593483 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:4593483G>A ENST00000307616.1 - 3 349 c.350C>T c.(349-351)tCc>tTc p.S117F NM_144663.1 NP_653264.1 Q8WZ69 CK040_HUMAN chromosome 11 open reading frame 40 117 large_intestine(3)|lung(1)|ovary(2)|stomach(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TGAGATCCAGGAAATAGAGAT 0.458000 10 70 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76257161 76257161 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:76257161G>A ENST00000529032.1 + 19 3594 c.3594G>A c.(3592-3594)gcG>gcA p.A1198A C11orf30_ENST00000524490.1_Silent_p.A1100A|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000334736.3_Silent_p.A1198A|C11orf30_ENST00000525919.1_Silent_p.A1199A|C11orf30_ENST00000533248.1_Silent_p.A1107A|C11orf30_ENST00000525038.1_Silent_p.A1199A|C11orf30_ENST00000524767.1_Silent_p.A1213A Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1198 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CAGGGATGGCGAATTCCACTC 0.517000 34 160 0 0 1 0 0 CSF3 1440 broad.mit.edu 37 17 38172738 38172738 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:38172738G>A ENST00000331769.2 + 3 508 c.291_splice c.e3-1 p.A98_splice CSF3_ENST00000394149.3_Splice_Site_p.A102_splice|CSF3_ENST00000225474.2_Splice_Site_p.A105_splice|CSF3_ENST00000577675.1_Splice_Site_p.A62_splice|CSF3_ENST00000394148.3_Splice_Site_p.A69_splice P09919 CSF3_HUMAN colony stimulating factor 3 (granulocyte) 105 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity endometrium(1)|ovary(1)|prostate(1) 3 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TGTCTCACAGGCAGGCTGCTT 0.622000 87 160 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18806753 18806753 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:18806753C>T ENST00000406451.3 + 16 2330 c.2180C>T c.(2179-2181)tCc>tTc p.S727F HDAC9_ENST00000441542.2_Missense_Mutation_p.S730F|HDAC9_ENST00000432645.2_Missense_Mutation_p.S727F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S686F NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 727 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AAGTTTTTTTCCTCATTACCT 0.264000 4 15 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35604908 35604908 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:35604908C>T ENST00000542713.1 - 3 290 c.133G>A c.(133-135)Gaa>Aaa p.E45K FKBP5_ENST00000357266.4_Missense_Mutation_p.E45K|FKBP5_ENST00000539068.1_Missense_Mutation_p.E45K|FKBP5_ENST00000536438.1_Missense_Mutation_p.E45K|FKBP5_ENST00000540787.1_Intron NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 45 PPIase FKBP-type 1. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 ATCGGCGTTTCCTCACCATTC 0.343000 25 45 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284194 159284194 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:159284194G>A ENST00000332217.5 - 1 255 c.256C>T c.(256-258)Ctc>Ttc p.L86F NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GGATTCAAGAGACCAGAAAGC 0.498000 67 92 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77709246 77709246 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:77709246G>A ENST00000298351.4 + 15 1332 c.1187_splice c.e15-1 p.W396_splice NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 396 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CCTTCCCCAGGAAACACCTGT 0.547000 15 66 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19411035 19411035 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:19411035G>A ENST00000375267.2 - 102 14974 c.14971C>T c.(14971-14973)Ccg>Tcg p.P4991S UBR4_ENST00000375226.2_Missense_Mutation_p.P4967S|UBR4_ENST00000543981.1_Missense_Mutation_p.P655S|UBR4_ENST00000375217.2_Missense_Mutation_p.P4984S|UBR4_ENST00000375224.1_Missense_Mutation_p.P698S|UBR4_ENST00000429347.2_Missense_Mutation_p.P514S|UBR4_ENST00000375254.3_Missense_Mutation_p.P4991S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4991 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ATGATGTACGGGATCAGGTGG 0.602000 9 78 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132051985 132051985 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:132051985G>A ENST00000286355.5 - 1 2687 c.595C>T c.(595-597)Cta>Tta p.L199L ADCY8_ENST00000377928.3_Silent_p.L199L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 199 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTCAAGTGTAGGACCAAGAGA 0.582000 HNSCC(32;0.087) 13 66 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234072405 234072405 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:234072405G>A ENST00000359570.5 + 14 1257 c.1257G>A c.(1255-1257)caG>caA p.Q419Q INPP5D_ENST00000455936.2_Silent_p.Q183Q|INPP5D_ENST00000450745.1_Silent_p.Q183Q|INPP5D_ENST00000538935.1_Silent_p.Q418Q Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 431 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CCAAGGGGCAGGGAAAGACGC 0.567000 55 169 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55204123 55204123 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:55204123A>T ENST00000396834.1 + 13 1824 c.1328A>T c.(1327-1329)gAg>gTg p.E443V IL31RA_ENST00000396836.2_Missense_Mutation_p.E462V|IL31RA_ENST00000359040.5_Missense_Mutation_p.E462V|IL31RA_ENST00000490985.1_Missense_Mutation_p.E320V|IL31RA_ENST00000354961.4_Missense_Mutation_p.E443V|IL31RA_ENST00000297015.3_Missense_Mutation_p.E320V|IL31RA_ENST00000447346.2_Missense_Mutation_p.E462V NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 430 Fibronectin type-III 5. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) ACCAAGGTGGAGAACATTGGC 0.483000 19 60 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50573894 50573894 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:50573894C>T ENST00000342183.5 - 1 998 c.194G>A c.(193-195)aGc>aAc p.S65N NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000401669.2_Intron NM_138735.2 NP_620072.1 Q9ULB1 NRX1A_HUMAN neurexin 1 0 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATGCTTGCTGCTGCCATGGAA 0.602000 15 48 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323360 31323360 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:31323360G>A ENST00000265071.2 + 12 2583 c.2318G>A c.(2317-2319)cGa>cAa p.R773Q NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 773 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding 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 TGGGGACCTCGATTCAAAAAG 0.463000 19 103 0 0 1 0 0 HCCS 3052 broad.mit.edu 37 X 11135392 11135392 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:11135392A>G ENST00000321143.4 + 4 460 c.258A>G c.(256-258)ccA>ccG p.P86P HCCS_ENST00000380762.4_Silent_p.P86P|HCCS_ENST00000380763.3_Silent_p.P86P NM_001122608.2|NM_001171991.2|NM_005333.4 NP_001116080.1|NP_001165462.1|NP_005324.3 P53701 CCHL_HUMAN holocytochrome c synthase 86 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 TTTAGATGCCACCACCAAATC 0.368000 50 128 0 0 1 0 0 S100A8 6279 broad.mit.edu 37 1 153362720 153362720 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:153362720C>T ENST00000368733.3 - 3 311 c.e3-1 S100A8_ENST00000368732.1_Splice_Site|S100A8_ENST00000477801.1_Splice_Site NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CACCCTTTTTCTGTCAAGATT 0.507000 167 133 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661284 176661284 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:176661284C>T ENST00000367662.3 + 6 3618 c.2454C>T c.(2452-2454)ttC>ttT p.F818F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 818 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 CTGACAACTTCACTCCTAACC 0.473000 OREG0014001 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 90 80 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95728975 95728975 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:95728975G>A ENST00000311106.3 - 14 2229 c.1992C>T c.(1990-1992)tcC>tcT p.S664S PCSK1_ENST00000508626.1_Silent_p.S617S|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 664 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 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) GCATGGCCTGGGAAGGGGCTC 0.557000 24 95 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72434184 72434184 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:72434184C>T ENST00000373517.3 - 1 500 c.145G>A c.(145-147)Gaa>Aaa p.E49K NAP1L2_ENST00000536638.1_Intron NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 49 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) GCAGCTTCTTCACCGCACTTC 0.567000 25 64 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39727608 39727608 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:39727608C>T ENST00000246662.4 - 1 702 c.637G>A c.(637-639)Gac>Aac p.D213N KRT9_ENST00000588431.1_5'UTR NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 213 Coil 1B.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) CCTACCTGGTCCTTGAGATCA 0.403000 19 161 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25839962 25839962 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:25839962C>T ENST00000376351.3 + 6 1821 c.1462C>T c.(1462-1464)Cgt>Tgt p.R488C NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 488 integral to membrane|plasma membrane G-protein coupled receptor activity p.R488G(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AAGATGGGCTCGTCTTCTCGG 0.393000 43 92 0 0 1 0 0 ANKLE1 126549 broad.mit.edu 37 19 17394286 17394286 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:17394286C>T ENST00000394458.3 + 5 989 c.713C>T c.(712-714)cCc>cTc p.P238L ANKLE1_ENST00000594072.1_Missense_Mutation_p.P227L|ANKLE1_ENST00000598347.1_Missense_Mutation_p.P238L|ANKLE1_ENST00000433424.2_Missense_Mutation_p.P292L|ANKLE1_ENST00000404085.1_Missense_Mutation_p.P260L NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 238 nuclear envelope p.P224L(1) large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 TCGGACACTCCCCCCTGGGCT 0.627000 23 89 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97613200 97613200 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:97613200G>A ENST00000275053.4 - 21 3408 c.3143C>T c.(3142-3144)cCt>cTt p.P1048L MMS22L_ENST00000369251.2_Missense_Mutation_p.P1008L NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 1048 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 CAGCAAAACAGGATGTTGTCC 0.368000 16 80 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169515827 169515827 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:169515827C>T ENST00000367796.3 - 11 1816 c.1615G>A c.(1615-1617)Gca>Aca p.A539T F5_ENST00000367797.3_Missense_Mutation_p.A539T|F5_ENST00000546081.1_3'UTR P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 539 F5/8 type A 2.|Plastocyanin-like 4. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ATGTCTGCTGCCCTCTGGAGG 0.438000 79 56 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823866 70823866 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:70823866G>A ENST00000373695.1 + 7 1276 c.739G>A c.(739-741)Gac>Aac p.D247N ACRC_ENST00000373696.3_Missense_Mutation_p.D247N Q96QF7 ACRC_HUMAN acidic repeat containing 247 Asp/Ser-rich. nucleus p.D247N(1) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) AGCTCCCGACGACAGCAGTGA 0.552000 53 297 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184565 19184565 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:19184565C>T ENST00000275461.3 - 1 479 c.421G>A c.(421-423)Gag>Aag p.E141K AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 141 Helix-loop-helix motif. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CGGAGGGTCTCGATCCGGGAC 0.572000 6 68 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49052842 49052842 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:49052842C>T ENST00000226432.4 + 15 2180 c.1997C>T c.(1996-1998)tCt>tTt p.S666F CWH43_ENST00000513409.1_Missense_Mutation_p.S639F NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 666 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 AGAGAAGTTTCTGAGAAAATT 0.393000 19 45 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23509642 23509642 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:23509642G>A ENST00000296682.3 + 3 315 c.133G>A c.(133-135)Gac>Aac p.D45N NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 45 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGAGATGGGAGACTGGGAGAA 0.433000 HNSCC(3;0.000094) 26 153 0 0 1 0 0 ATP6AP1 537 broad.mit.edu 37 X 153657425 153657425 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:153657425G>A ENST00000369762.2 + 2 254 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 65 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGACACTCATGAAGGCCACAT 0.622000 15 108 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176710809 176710809 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:176710809C>T ENST00000439151.2 + 20 6076 c.6031C>T c.(6031-6033)Ccc>Tcc p.P2011S NSD1_ENST00000361032.4_Missense_Mutation_p.P1908S|NSD1_ENST00000354179.4_Missense_Mutation_p.P1742S|NSD1_ENST00000347982.4_Missense_Mutation_p.P1742S NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2011 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TGATGCTGGTCCCAAAGGAAA 0.438000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 24 114 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51749080 51749080 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:51749080C>T ENST00000395052.3 + 4 1525 c.1291C>T c.(1291-1293)Ccc>Tcc p.P431S GRM2_ENST00000442933.2_Missense_Mutation_p.P431S|GRM2_ENST00000475478.1_3'UTR NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 431 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) CATCCTAGCCCCCTTTCGCCC 0.537000 14 71 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372477 175372477 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:175372477C>T ENST00000367674.1 - 4 1483 c.775G>A c.(775-777)Gag>Aag p.E259K TNR_ENST00000263525.2_Missense_Mutation_p.E259K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 259 Cys-rich.|EGF-like 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CTGCAGTCCTCGCCAGTGTAG 0.627000 34 54 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52130502 52130502 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:52130502C>T ENST00000222107.4 - 7 1421 c.e7-1 SIGLEC5_ENST00000570106.2_Splice_Site|SIGLEC5_ENST00000599649.1_Splice_Site|SIGLEC5_ENST00000534261.2_Splice_Site|SIGLEC5_ENST00000429354.3_Splice_Site O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TTCGATCTCCCTGCAGAAAAG 0.562000 10 47 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585327 82585327 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:82585327T>C ENST00000423517.2 - 5 5279 c.4942A>G c.(4942-4944)Act>Gct p.T1648A PCLO_ENST00000333891.8_Missense_Mutation_p.T1648A NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1579 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 TGACTTTTAGTTTCTCTGTAT 0.393000 41 253 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427579 25427579 + RNA SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:25427579A>G ENST00000424208.1 + 0 272 SNHG14_ENST00000365306.1_RNA NR_003305.1 GATAACTTAAAAATCATGCTC 0.522000 31 461 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102954760 102954760 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:102954760C>T ENST00000311734.2 + 2 375 c.36C>T c.(34-36)ctC>ctT p.L12L IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Silent_p.L12L|IL1RL1_ENST00000233954.1_Silent_p.L12L|IL1RL1_ENST00000393393.3_Silent_p.L12L|IL1RL1_ENST00000404917.2_Intron Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 12 innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TCACAATTCTCATGTATTCCA 0.308000 37 107 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123298225 123298225 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:123298225C>T ENST00000358487.5 - 6 901 c.629G>A c.(628-630)cGa>cAa p.R210Q FGFR2_ENST00000351936.6_Missense_Mutation_p.R210Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.R95Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.R95Q|FGFR2_ENST00000359354.2_Missense_Mutation_p.R210Q|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000357555.5_Missense_Mutation_p.R121Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.R121Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.R210Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.R210Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.R210Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.R210Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.R210Q NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 210 Ig-like C2-type 2. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.R121Q(1)|p.R210Q(1) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GTGCTGGTTTCGTACCTGAAA 0.423000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 34 56 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133494345 133494345 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:133494345A>T ENST00000402696.3 + 15 2241 c.1756A>T c.(1756-1758)Acc>Tcc p.T586S TF_ENST00000264998.3_Missense_Mutation_p.T459S NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 586 Transferrin-like 2. 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) CCTTGATGGTACCAGGAAACC 0.502000 34 242 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515201 56515201 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:56515201C>T ENST00000390649.3 + 2 182 c.182C>T c.(181-183)tCc>tTc p.S61F NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 61 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTCACCTTTTCCAGCTACGGG 0.433000 40 90 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132445318 132445318 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:132445318C>T ENST00000370828.3 - 4 1369 c.845G>A c.(844-846)gGg>gAg p.G282E GPC4_ENST00000535467.1_Missense_Mutation_p.G212E NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 282 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) ATCGAGATCCCCTTGGTTGGC 0.448000 32 240 0 0 1 0 0 PPAPDC3 84814 broad.mit.edu 37 9 134165396 134165396 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:134165396C>T ENST00000372264.3 + 1 316 c.12C>T c.(10-12)tcC>tcT p.S4S PPAPDC3_ENST00000372261.1_Silent_p.S4S NM_032728.3 NP_116117.3 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain containing 3 4 endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) TGCCAGCTTCCCAGAGCCGGG 0.706000 4 28 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40417689 40417689 + Missense_Mutation SNP C C G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:40417689C>G ENST00000333407.5 + 4 1269 c.1175C>G c.(1174-1176)cCc>cGc p.P392R FAM83F_ENST00000473717.1_3'UTR NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F 392 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 GAGCCCATCCCCTTGGGAGAG 0.647000 12 31 0 0 1 0 0 MTMR2 8898 broad.mit.edu 37 11 95568590 95568590 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:95568590T>C ENST00000393223.3 - 17 2242 c.1580A>G c.(1579-1581)gAa>gGa p.E527G MTMR2_ENST00000409459.1_Missense_Mutation_p.E527G|MTMR2_ENST00000346299.5_Missense_Mutation_p.E599G|MTMR2_ENST00000352297.7_Missense_Mutation_p.E527G NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 599 Myotubularin phosphatase. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGCAAGAAGTTCTTTGTATCT 0.413000 6 87 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206305377 206305377 + Missense_Mutation SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:206305377C>A ENST00000406610.2 + 20 3232 c.3025C>A c.(3025-3027)Cca>Aca p.P1009T PARD3B_ENST00000358768.2_Missense_Mutation_p.P947T|PARD3B_ENST00000351153.1_Missense_Mutation_p.P940T|PARD3B_ENST00000349953.3_Intron NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 1009 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GCCATACCATCCACTGGTTCC 0.428000 18 37 4.26978e-12 4.30784e-12 1 1 0 PLEKHB1 58473 broad.mit.edu 37 11 73366936 73366936 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:73366936T>C ENST00000354190.5 + 6 910 c.479T>C c.(478-480)gTt>gCt p.V160A PLEKHB1_ENST00000543085.1_Intron|PLEKHB1_ENST00000398492.4_Intron|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.V141A|PLEKHB1_ENST00000535129.1_Intron|PLEKHB1_ENST00000227214.6_Intron NM_021200.2 NP_067023.1 Q9UF11 PKHB1_HUMAN pleckstrin homology domain containing, family B (evectins) member 1 160 multicellular organismal development|phototransduction cytoplasm|integral to membrane signal transducer activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 7 CCCTGTAAGGTTGAGAGGCGG 0.652000 9 64 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183521106 183521106 + Missense_Mutation SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:183521106A>G ENST00000305135.5 + 26 3760 c.3565A>G c.(3565-3567)Aaa>Gaa p.K1189E NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1189 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) GAACATTGGAAAAAGGAGAGC 0.488000 8 17 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67662408 67662408 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:67662408C>T ENST00000264010.4 + 9 2098 c.1654C>T c.(1654-1656)Cct>Tct p.P552S CTCF_ENST00000401394.1_Missense_Mutation_p.P224S NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 552 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.P552S(1) breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) CAACTTCGTCCCTGCGGCTTT 0.498000 77 164 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883076 228883076 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:228883076C>T ENST00000392056.3 - 7 2540 c.2494G>A c.(2494-2496)Gaa>Aaa p.E832K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E832K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 832 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGATATATTTCCTTGGAGGAT 0.488000 25 157 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17488907 17488907 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:17488907C>T ENST00000400588.1 - 1 205 c.98G>A c.(97-99)gGa>gAa p.G33E NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 33 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TCTCGTGCTTCCGCCGGCGGG 0.677000 4 12 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57354081 57354081 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:57354081C>T ENST00000314922.3 - 2 630 c.554G>A c.(553-555)aGa>aAa p.R185K PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.R185K NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 185 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GCCCCCATATCTCTTGCTCAC 0.502000 27 228 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543007 28543007 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:28543007G>A ENST00000452236.2 - 3 2092 c.1475C>T c.(1474-1476)tCa>tTa p.S492L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 492 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CCAGTGTGATGAGTTGTTAGT 0.438000 72 95 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611050 179611050 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179611050C>T ENST00000360870.5 - 46 16299 c.16077G>A c.(16075-16077)atG>atA p.M5359I TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8872 Ig-like 34. 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) CCCTTGAATCCATATTTGGAT 0.338000 13 65 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51645671 51645671 + Missense_Mutation SNP G G T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:51645671G>T ENST00000317643.6 + 1 114 c.45G>T c.(43-45)agG>agT p.R15S SIGLEC7_ENST00000600577.1_Missense_Mutation_p.R15S|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.R15S NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 15 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) GGAGGGAGAGGGTGGAAGGAC 0.602000 5 37 0.000602214 0.000603183 1 1 0 EIF4A2 1974 broad.mit.edu 37 3 186502861 186502861 + Silent SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:186502861T>C ENST00000323963.5 + 4 383 c.319T>C c.(319-321)Ttg>Ctg p.L107L EIF4A2_ENST00000356531.5_Intron|EIF4A2_ENST00000440191.2_Silent_p.L108L Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 107 Helicase ATP-binding. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) AGCACTAGTATTGGCCCCCAC 0.453000 T BCL6 NHL 53 213 0 0 1 0 0 CDK8 1024 broad.mit.edu 37 13 26959389 26959389 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:26959389C>T ENST00000381527.3 + 6 1059 c.556C>T c.(556-558)Cct>Tct p.P186S CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 186 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) ACCTTTGAAGCCTTTAGCAGA 0.363000 8 65 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 157839901 157839901 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:157839901G>A ENST00000464171.1 + 2 133 c.8G>A c.(7-9)cGt>cAt p.R3H RSRC1_ENST00000480820.1_Missense_Mutation_p.R3H|RSRC1_ENST00000475278.2_Missense_Mutation_p.R3H|RSRC1_ENST00000312179.6_Missense_Mutation_p.R3H|RSRC1_ENST00000295930.3_Missense_Mutation_p.R3H NM_001271834.1 NP_001258763.1 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 3 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) GAAATGGGACGTCGGTCATCA 0.338000 4 50 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156281454 156281454 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:156281454G>A ENST00000311277.4 - 7 1179 c.916C>T c.(916-918)Caa>Taa p.Q306* AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594492.1_RNA|MAP9_ENST00000515654.1_Nonsense_Mutation_p.Q282*|AC097467.2_ENST00000417474.1_RNA NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 306 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) GCAGTCACTTGACTTTCCTTG 0.368000 22 110 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74042492 74042492 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:74042492G>A ENST00000409561.1 + 3 1263 c.1142G>A c.(1141-1143)gGa>gAa p.G381E NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 381 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 ATCCTAATAGGAAATCAAGAT 0.458000 23 37 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51418793 51418793 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:51418793G>A ENST00000266037.9 + 53 5919 c.5896G>A c.(5896-5898)Gac>Aac p.D1966N NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1966 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CATCCCTCAGGACCCCATGGA 0.677000 9 95 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106803608 106803608 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:106803608C>T ENST00000276185.4 + 10 983 c.983C>T c.(982-984)tCg>tTg p.S328L Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 328 FERM. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 CAGAAGATCTCGCTCAAGAAT 0.522000 15 51 0 0 1 0 0 C10orf129 142827 broad.mit.edu 37 10 96967066 96967066 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:96967066G>A ENST00000341686.3 + 4 630 c.505G>A c.(505-507)Gcc>Acc p.A169T C10orf129_ENST00000394005.3_Missense_Mutation_p.A169T|C10orf129_ENST00000430183.1_Missense_Mutation_p.A14T NM_207321.2 NP_997204.2 Q6P461 ACSM6_HUMAN chromosome 10 open reading frame 129 169 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) TGAAGCTATGGCCCCAGTTGT 0.498000 22 100 0 0 1 0 0 MTERF 7978 broad.mit.edu 37 7 91502983 91502983 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:91502983A>G ENST00000419292.1 - 2 1141 c.1065T>C c.(1063-1065)acT>acC p.T355T MTERF_ENST00000406735.2_Silent_p.T355T|CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000351870.3_Silent_p.T375T Q99551 MTERF_HUMAN mitochondrial transcription termination factor 375 Interaction with DNA. DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1) 14 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) TGATGTTTAAAGTACTCAAGT 0.323000 52 37 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100166721 100166721 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:100166721C>T ENST00000547776.2 - 8 1106 c.1107G>A c.(1105-1107)ggG>ggA p.G369G ANKS1B_ENST00000329257.7_Silent_p.G369G|ANKS1B_ENST00000547010.1_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 369 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTCCATTTTTCCCAAGTTCTT 0.408000 5 68 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167835597 167835597 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:167835597C>T ENST00000265293.4 + 7 1308 c.806C>T c.(805-807)tCg>tTg p.S269L WWC1_ENST00000521089.1_Missense_Mutation_p.S269L NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 269 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CTGGAGAGTTCGAGTTTCCCG 0.597000 38 161 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166901717 166901717 + Missense_Mutation SNP G G A rs141188608 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:166901717G>A ENST00000423058.2 - 10 1515 c.1498C>T c.(1498-1500)Cgg>Tgg p.R500W AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R500W|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R500W|SCN1A_ENST00000409050.1_Missense_Mutation_p.R500W NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 500 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTCTTCCTCCGATTTCTTCTT 0.468000 46 291 0 0 1 0 0 ISX 91464 broad.mit.edu 37 22 35481590 35481590 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:35481590C>T ENST00000308700.6 + 4 1594 c.642C>T c.(640-642)gtC>gtT p.V214V ISX_ENST00000404699.2_Silent_p.V214V NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 214 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 CACAGCCTGTCCCAGGTCTTC 0.567000 52 137 0 0 1 0 0 NOL3 8996 broad.mit.edu 37 16 67208826 67208826 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:67208826G>A ENST00000432069.2 + 5 1170 c.598G>A c.(598-600)Gag>Aag p.E200K NOL3_ENST00000564053.1_Missense_Mutation_p.E262K|NOL3_ENST00000268605.7_Missense_Mutation_p.E200K|NOL3_ENST00000568146.1_Silent_p.S196S NM_001276309.1|NM_001276312.1|NM_001276319.1 NP_001263238.1|NP_001263241.1|NP_001263248.1 O60936 NOL3_HUMAN nucleolar protein 3 (apoptosis repressor with CARD domain) 0 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) gcccgacttcgaGGAAAGGGA 0.667000 28 49 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121435391 121435391 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:121435391C>T ENST00000257555.6 + 7 1650 c.1424C>T c.(1423-1425)cCg>cTg p.P475L HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000400024.2_Missense_Mutation_p.P475L|HNF1A_ENST00000541395.1_Missense_Mutation_p.P475L|HNF1A_ENST00000544413.1_Missense_Mutation_p.P475L|HNF1A_ENST00000538626.1_Missense_Mutation_p.P57L P20823 HNF1A_HUMAN HNF1 homeobox A 475 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TACCAGCAGCCGCTCATGCCA 0.662000 Hepatic Adenoma, Familial Clustering of 9 28 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69688666 69688666 + Silent SNP G G A rs147613223 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:69688666G>A ENST00000337103.4 + 10 2696 c.1104G>A c.(1102-1104)ctG>ctA p.L368L C8orf34_ENST00000325233.3_Silent_p.L137L|C8orf34_ENST00000518698.1_Silent_p.L479L|C8orf34_ENST00000539993.1_Silent_p.L393L Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 393 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) GACACTCACTGAAAAACTACA 0.403000 10 55 0 0 1 0 0 FAM122C 159091 broad.mit.edu 37 X 133948839 133948839 + Missense_Mutation SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:133948839T>A ENST00000414371.2 + 4 430 c.257T>A c.(256-258)aTt>aAt p.I86N FAM122C_ENST00000370784.4_Missense_Mutation_p.I50N|FAM122C_ENST00000370785.3_Missense_Mutation_p.I50N|FAM122C_ENST00000445123.1_5'UTR NM_001170780.1|NM_001170784.1 NP_001164251.1|NP_001164255.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C 50 endometrium(2)|kidney(1)|lung(2) 5 Acute lymphoblastic leukemia(192;0.000127) ATGTTAAGAATTAGGACAAAC 0.328000 15 177 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202149719 202149719 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:202149719G>A ENST00000358485.4 + 8 1356 c.1160G>A c.(1159-1161)gGa>gAa p.G387E CASP8_ENST00000432109.2_Missense_Mutation_p.G328E|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.G244E|CASP8_ENST00000264275.5_Missense_Mutation_p.G345E|CASP8_ENST00000323492.7_Missense_Mutation_p.G313E NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 328 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 GGCACTGATGGACAGGAGGCC 0.468000 HNSCC(4;0.00038) 64 167 0 0 1 0 0 MICU3 286097 broad.mit.edu 37 8 16962001 16962001 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:16962001G>A ENST00000318063.5 + 10 1127 c.e10+1 MICU3_ENST00000519866.1_Splice_Site NM_181723.2 NP_859074.1 mitochondrial calcium uptake family, member 3 p.?(1) ATTTTTATAGGTGAGCttatt 0.308000 14 48 0 0 1 0 0 CDCP2 200008 broad.mit.edu 37 1 54605627 54605627 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:54605627C>T ENST00000371330.1 - 4 1763 c.916G>A c.(916-918)Gag>Aag p.E306K NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 306 CUB 3. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 CTGTTGGGCTCCTCCAGGTCC 0.632000 23 32 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81218086 81218086 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:81218086G>A ENST00000394685.3 + 19 2829 c.2410G>A c.(2410-2412)Gac>Aac p.D804N KIAA1199_ENST00000356249.5_Missense_Mutation_p.D804N|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D804N Q8WUJ3 K1199_HUMAN KIAA1199 804 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGTGTGGCTGGACAGCTGCCG 0.647000 6 35 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449483 104449483 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:104449483C>T ENST00000361820.3 - 2 1300 c.e2-1 NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GAAGGGGATTCTGTATTTAAA 0.338000 25 71 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39507993 39507993 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:39507993G>A ENST00000287152.7 - 13 1525 c.1431C>T c.(1429-1431)atC>atT p.I477I KIF6_ENST00000373216.3_Silent_p.I477I|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Silent_p.I477I|KIF6_ENST00000373213.4_Silent_p.I316I NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 477 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 TGTTGACCAGGATATCTGAAA 0.398000 14 119 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68715390 68715390 + Missense_Mutation SNP G G A rs150886543 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:68715390G>A ENST00000303145.7 - 6 906 c.820C>T c.(820-822)Cgt>Tgt p.R274C MDM1_ENST00000411698.2_Missense_Mutation_p.R229C|MDM1_ENST00000540418.1_5'UTR NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 274 nucleus p.R274C(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) AATTTTAAACGATCGTCTATT 0.308000 18 9 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653326 159653326 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:159653326G>A ENST00000297267.9 + 11 1982 c.1782G>A c.(1780-1782)agG>agA p.R594R FNDC1_ENST00000340366.6_Silent_p.R531R NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 594 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) TGCCCCGAAGGGAAGGCGTAG 0.701000 5 17 0 0 1 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432914 111432914 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:111432914C>T ENST00000393934.3 + 3 1375 c.805C>T c.(805-807)Ccc>Tcc p.P269S PLCXD2_ENST00000477665.1_Missense_Mutation_p.P269S|PLCXD2_ENST00000472215.1_3'UTR NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 269 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 GATCCTCACCCCCAGAGTGAA 0.537000 30 65 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123265710 123265710 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:123265710G>A ENST00000253079.6 + 3 573 c.e3-1 CCDC62_ENST00000392441.4_Splice_Site|CCDC62_ENST00000537566.1_Splice_Site NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) ACTTCCCTCAGGTGAACTACA 0.353000 11 77 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25261734 25261734 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:25261734C>T ENST00000216962.4 + 11 1499 c.1389C>T c.(1387-1389)atC>atT p.I463I NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 463 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) ACTCGGAGATCGTGAAACAGT 0.607000 23 156 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19628026 19628026 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:19628026C>T ENST00000438132.3 + 14 1435 c.1387C>T c.(1387-1389)Cag>Tag p.Q463* C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q224*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q374*|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q123*|C16orf62_ENST00000417362.2_Intron NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 374 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GGATACGGTCCAGAACCAGCT 0.512000 12 57 0 0 1 0 0 DNAJB11 51726 broad.mit.edu 37 3 186300545 186300545 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:186300545C>T ENST00000439351.1 + 8 1652 c.723C>T c.(721-723)ttC>ttT p.F241F DNAJB11_ENST00000265028.3_Silent_p.F241F Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 241 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) ATTTACGGTTCCGAATCAAAG 0.398000 9 17 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33560122 33560122 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:33560122C>T ENST00000228567.3 - 3 975 c.679G>A c.(679-681)Gaa>Aaa p.E227K SYT10_ENST00000535526.1_Missense_Mutation_p.E46K NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 227 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTGACATCTTCGTTTTGGTTG 0.383000 22 90 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39918064 39918064 + Silent SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:39918064C>A ENST00000337304.2 + 2 1395 c.513C>A c.(511-513)tcC>tcA p.S171S ATF4_ENST00000396680.1_Silent_p.S171S|ATF4_ENST00000404241.2_Silent_p.S171S NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 171 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) GGGTCCTGTCCTCCACTCCAG 0.502000 55 152 1.48341e-19 1.50272e-19 1 1 0 OR52D1 390066 broad.mit.edu 37 11 5510515 5510515 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:5510515C>T ENST00000322641.5 + 1 601 c.579C>T c.(577-579)gcC>gcT p.A193A HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCCTGTGCCAACATCACTG 0.517000 45 220 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127808387 127808387 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:127808387G>A ENST00000316724.5 - 17 1974 c.1563C>T c.(1561-1563)ttC>ttT p.F521F BIN1_ENST00000348750.4_Silent_p.F337F|BIN1_ENST00000351659.3_Silent_p.F434F|BIN1_ENST00000357970.3_Silent_p.F478F|BIN1_ENST00000409400.1_Silent_p.F367F|BIN1_ENST00000346226.3_Silent_p.F446F|BIN1_ENST00000393040.3_Silent_p.F410F|BIN1_ENST00000393041.3_Silent_p.F403F|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000352848.3_Silent_p.F382F|BIN1_ENST00000259238.4_Silent_p.F425F|BIN1_ENST00000376113.2_Silent_p.F352F NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 521 SH3. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CCTTGAACATGAAACCTGGGG 0.632000 OREG0014962 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 143 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 209910 209910 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:209910C>T ENST00000526104.1 + 3 1980 c.636C>T c.(634-636)ctC>ctT p.L212L RIC8A_ENST00000325207.5_Silent_p.L212L|RIC8A_ENST00000527696.1_Silent_p.L206L Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 212 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CACCCACGCTCCTTCCTTCCC 0.597000 44 50 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52710294 52710294 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:52710294C>T ENST00000293670.3 - 6 1061 c.999G>A c.(997-999)atG>atA p.M333I NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 333 Coil 2.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCTCTGGATCATGCGGTTCA 0.612000 15 78 0 0 1 0 0 MLF1 4291 broad.mit.edu 37 3 158314672 158314672 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:158314672C>T ENST00000359117.5 + 3 378 c.142C>T c.(142-144)Cag>Tag p.Q48* MLF1_ENST00000392822.3_Nonsense_Mutation_p.Q104*|MLF1_ENST00000471745.1_Nonsense_Mutation_p.Q63*|MLF1_ENST00000355893.5_Nonsense_Mutation_p.Q73*|MLF1_ENST00000484955.1_Nonsense_Mutation_p.Q48*|MLF1_ENST00000478894.2_Nonsense_Mutation_p.Q63*|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000469452.1_Nonsense_Mutation_p.Q48*|MLF1_ENST00000482628.1_Nonsense_Mutation_p.Q48* NM_001130156.2 NP_001123628.1 P58340 MLF1_HUMAN myeloid leukemia factor 1 73 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding large_intestine(3) 3 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) CAGCTCTTTCCAGACAATGGA 0.328000 T NPM1 AML 9 20 0 0 1 0 0 KLHL15 80311 broad.mit.edu 37 X 24024370 24024370 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:24024370G>A ENST00000328046.8 - 3 696 c.441C>T c.(439-441)atC>atT p.I147I NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 147 BACK. autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 TGACTCCCTCGATGTTTACGC 0.438000 17 148 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179586690 179586690 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179586690C>T ENST00000589042.1 - 78 22924 c.22700G>A c.(22699-22701)gGa>gAa p.G7567E TTN_ENST00000342992.6_Missense_Mutation_p.G6323E|TTN_ENST00000591111.1_Missense_Mutation_p.G7250E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7250 Ig-like 57. 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) AGGAGTGTTTCCCACACATGT 0.428000 81 250 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133622720 133622720 + Missense_Mutation SNP C C T rs146653246 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:133622720C>T ENST00000253861.4 + 14 2133 c.2104C>T c.(2104-2106)Cgt>Tgt p.R702C EXOC4_ENST00000545148.1_Missense_Mutation_p.R312C|EXOC4_ENST00000539845.1_Missense_Mutation_p.R601C|EXOC4_ENST00000541309.1_5'UTR NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 702 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AGACATCCTTCGTGACGTCAG 0.458000 29 257 0 0 1 0 0 LCE3E 353145 broad.mit.edu 37 1 152538501 152538501 + Nonsense_Mutation SNP G G A rs140473829 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:152538501G>A ENST00000368789.1 - 2 239 c.184C>T c.(184-186)Cga>Tga p.R62* NM_178435.2 NP_848522.1 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 62 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) CGCCGGCATCGGTGGTGGCGC 0.682000 86 73 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120740002 120740002 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:120740002C>T ENST00000310396.5 + 7 1239 c.772C>T c.(772-774)Cca>Tca p.P258S CPED1_ENST00000450913.2_Missense_Mutation_p.P258S|CPED1_ENST00000423795.1_Missense_Mutation_p.P38S NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 AGTCCTTGCTCCACATGAAAC 0.378000 12 104 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72954801 72954801 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:72954801G>A ENST00000425042.2 - 10 1284 c.1207C>T c.(1207-1209)Ctc>Ttc p.L403F NM_030630.2 NP_085133.1 HID1 domain containing AGGAAGAAGAGGATGGGGACA 0.612000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 90 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118147600 118147600 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:118147600G>A ENST00000456015.2 + 1 34 c.34G>A c.(34-36)Gat>Aat p.D12N SLC30A8_ENST00000521035.1_3'UTR|SLC30A8_ENST00000521243.1_Intron|SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000427715.2_5'UTR NM_173851.2 NP_776250.2 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 12 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TCTTGTGAATGATAAAGCTGC 0.418000 72 145 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154895 5154895 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:5154895G>A ENST00000252321.3 + 1 1811 c.1582G>A c.(1582-1584)Gat>Aat p.D528N NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 528 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CCGGGAAACGGATCACGAGGA 0.642000 38 62 0 0 1 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953426 8953426 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:8953426C>T ENST00000595891.1 + 3 303 c.72C>T c.(70-72)acC>acT p.T24T MBD3L1_ENST00000305625.2_Silent_p.T24T Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 1 24 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 GCTTGAGCACCTCAATCCCTT 0.448000 7 62 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71275406 71275406 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:71275406C>T ENST00000395275.2 - 6 961 c.573G>A c.(571-573)acG>acA p.T191T CALN1_ENST00000405452.2_Silent_p.T149T|CALN1_ENST00000329008.5_Silent_p.T149T|CALN1_ENST00000431984.1_Silent_p.T149T|CALN1_ENST00000412588.1_Silent_p.T191T|CALN1_ENST00000395276.2_Silent_p.T149T NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 149 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.T149T(1) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TGTCCTTCATCGTTAGGTGGT 0.463000 18 183 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168115575 168115575 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:168115575C>T ENST00000409728.1 + 11 2707 c.2618C>T c.(2617-2619)aCc>aTc p.T873I XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.T840I|XIRP2_ENST00000409756.2_Missense_Mutation_p.T840I|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.T618I|XIRP2_ENST00000420519.1_Missense_Mutation_p.T873I NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding p.T873N(1) 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 TTTTCTAACACCGTGAAAATC 0.308000 8 40 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207196514 207196514 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:207196514G>A ENST00000359470.5 - 4 844 c.595C>T c.(595-597)Cct>Tct p.P199S C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 199 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) TCTGGCGGAGGGATGAGCACC 0.662000 88 93 0 0 1 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482447 152482447 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:152482447G>A ENST00000356661.5 - 3 782 c.564C>T c.(562-564)atC>atT p.I188I NM_004988.4 NP_004979.3 P43355 MAGA1_HUMAN melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 188 MAGE. cytoplasm|plasma membrane breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTTGGGCATGATCTGATTAT 0.542000 64 176 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891347 44891347 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:44891347C>T ENST00000330997.4 - 4 1124 c.1060G>A c.(1060-1062)Gga>Aga p.G354R ZNF285_ENST00000591679.1_Missense_Mutation_p.G361R|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G354R NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 GACCTAAATCCAAACCCTTTC 0.488000 17 84 0 0 1 0 0 COCH 1690 broad.mit.edu 37 14 31354660 31354660 + Missense_Mutation SNP G G A rs147613921 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:31354660G>A ENST00000460581.2 + 8 1004 c.458G>A c.(457-459)gGg>gAg p.G153E COCH_ENST00000216361.4_Missense_Mutation_p.G265E|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Missense_Mutation_p.G265E|COCH_ENST00000382493.4_Missense_Mutation_p.G116E|COCH_ENST00000475087.1_Missense_Mutation_p.G265E O43405 COCH_HUMAN cochlin 265 sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) GTAAGAAAAGGGATCCCCAAA 0.413000 33 116 0 0 1 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43694597 43694597 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:43694597C>T ENST00000395809.1 - 8 3401 c.895G>A c.(895-897)Gat>Aat p.D299N RASGEF1A_ENST00000374459.1_Missense_Mutation_p.D307N|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.D299N Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 299 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 CGGGCCACATCAATGAAGAAC 0.602000 17 20 0 0 1 0 0 LIN28A 79727 broad.mit.edu 37 1 26751942 26751942 + Missense_Mutation SNP G G A rs141345172 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:26751942G>A ENST00000326279.6 + 3 491 c.377G>A c.(376-378)gGa>gAa p.G126E LIN28A_ENST00000254231.4_Missense_Mutation_p.G126E NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 126 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 CGGCCAAAAGGAAAGAGCATG 0.512000 38 164 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9579864 9579864 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:9579864C>T ENST00000301480.4 - 9 743 c.e9-1 NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 ATTTTCCATTCTGAAATAAAA 0.289000 7 29 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101362289 101362289 + Nonsense_Mutation SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:101362289T>A ENST00000344327.3 - 3 1550 c.1126A>T c.(1126-1128)Aaa>Taa p.K376* TRPC6_ENST00000360497.4_Nonsense_Mutation_p.K376*|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Nonsense_Mutation_p.K376* NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 376 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) GACCTTACTTTTTTTACTTCA 0.408000 146 123 0 0 1 0 0 NUTM2A 728118 broad.mit.edu 37 10 88994204 88994204 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:88994204G>A ENST00000381707.2 + 7 2759 c.2376G>A c.(2374-2376)tgG>tgA p.W792* NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Intron NM_001099338.1 NP_001092808.1 NUT family member 2A CAGAAAAGTGGGGACCCCAGG 0.597000 7 36 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3664862 3664862 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:3664862G>A ENST00000335312.3 - 3 265 c.177C>T c.(175-177)ggC>ggT p.G59G PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.G59G|PIP5K1C_ENST00000537021.1_Silent_p.G59G|PIP5K1C_ENST00000589578.1_Silent_p.G59G NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 59 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) CACCTCGATGGCCCAACTTCT 0.632000 15 98 0 0 1 0 0 RAB27B 5874 broad.mit.edu 37 18 52551645 52551645 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:52551645C>T ENST00000262094.5 + 4 842 c.321C>T c.(319-321)ttC>ttT p.F107F RAB27B_ENST00000586594.1_Intron NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 107 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) AACAGAGCTTCTTAAATGTCA 0.468000 13 96 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26084282 26084282 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:26084282G>A ENST00000313735.6 - 27 3685 c.3452C>T c.(3451-3453)tCa>tTa p.S1151L NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 1151 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TCAGAGCGCTGACATCTCCAG 0.562000 OREG0024267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 65 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179473519 179473519 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179473519C>T ENST00000589042.1 - 274 52443 c.52219G>A c.(52219-52221)Gaa>Aaa p.E17407K TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14839K|TTN_ENST00000591111.1_Missense_Mutation_p.E15766K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8467K|TTN_ENST00000460472.2_Missense_Mutation_p.E8342K|TTN_ENST00000342175.6_Missense_Mutation_p.E8534K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15766 Fibronectin type-III 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) TCTTTCTTTTCCAAAGTGTAG 0.363000 28 63 0 0 1 0 0 TRBV5-1 28614 broad.mit.edu 37 7 142021239 142021239 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:142021239G>A ENST00000390381.3 + 0 528 GTGAGACACAGAGAAACAAAG 0.537000 5 55 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189074 140189074 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:140189074G>A ENST00000530339.1 + 1 2302 c.2302G>A c.(2302-2304)Gac>Aac p.D768N PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D768N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D768N NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCAAGACCGACCTCATGGC 0.582000 21 115 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34698054 34698054 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:34698054C>T ENST00000360581.1 + 1 158 c.30C>T c.(28-30)ttC>ttT p.F10F NPSR1_ENST00000381553.3_Silent_p.F10F|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381542.1_Silent_p.F10F|NPSR1_ENST00000381539.3_Silent_p.F10F|NPSR1_ENST00000359791.1_Silent_p.F10F|NPSR1_ENST00000531252.1_Silent_p.F10F|NPSR1_ENST00000465305.1_Silent_p.F10F|NPSR1-AS1_ENST00000419766.1_RNA NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 10 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) AGGGCAGCTTCGATTCCAGTG 0.572000 18 76 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109871385 109871385 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:109871385G>A ENST00000424296.2 - 25 2948 c.2872C>T c.(2872-2874)Cga>Tga p.R958* AK9_ENST00000341338.6_Nonsense_Mutation_p.R37*|AK9_ENST00000355283.1_Nonsense_Mutation_p.R37* NM_001145128.2 NP_001138600.2 adenylate kinase 9 ATCTTTTCTCGATACTTGGCT 0.428000 29 125 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1517262 1517262 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:1517262C>T ENST00000389470.4 - 36 5458 c.5459G>A c.(5458-5460)tGg>tAg p.W1820* INTS1_ENST00000404767.3_Nonsense_Mutation_p.W1621* Q8N201 INT1_HUMAN integrator complex subunit 1 1621 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CATTTCCAGCCAGTCCACTAG 0.692000 4 14 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207850750 207850750 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:207850750G>A ENST00000508064.2 + 2 174 c.114G>A c.(112-114)ccG>ccA p.P38P CR1L_ENST00000530905.1_3'UTR NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 38 Sushi 1. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GCAATGTCCCGGAATGGCTTC 0.398000 75 72 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141055537 141055537 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:141055537C>T ENST00000389484.3 - 84 13778 c.12805_splice c.e84-1 p.G4269_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4269 EGF-like 11. 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) AGGTGGGTCTCCCTATTGGAA 0.398000 TSP Lung(27;0.18) 32 185 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189018259 189018259 + Missense_Mutation SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:189018259A>G ENST00000512729.1 - 6 925 c.551T>C c.(550-552)tTa>tCa p.L184S TRIML2_ENST00000326754.3_Missense_Mutation_p.L209S NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 184 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TATGTGGCATAAACTCAGGTC 0.493000 20 136 0 0 1 0 0 TTC21B 79809 broad.mit.edu 37 2 166758373 166758373 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:166758373C>T ENST00000243344.7 - 20 2753 c.2616G>A c.(2614-2616)caG>caA p.Q872Q NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 872 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 CTGCATCTGGCTGTTCCATCT 0.358000 20 80 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44586195 44586195 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:44586195C>T ENST00000421176.3 + 4 388 c.172C>T c.(172-174)Cac>Tac p.H58Y ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 58 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) AGATACTTTTCACTTCCAAAG 0.403000 21 91 0 0 1 0 0 DALRD3 55152 broad.mit.edu 37 3 49055622 49055622 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:49055622G>A ENST00000341949.4 - 2 301 c.295C>T c.(295-297)Ctc>Ttc p.L99F DALRD3_ENST00000395462.4_5'UTR|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000313778.5_5'UTR|DALRD3_ENST00000440857.1_5'UTR|DALRD3_ENST00000441576.2_Missense_Mutation_p.L99F NM_001009996.1 NP_001009996.1 Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 99 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACGGCGCTGAGGACGCGCTCG 0.741000 4 3 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31600626 31600626 + Missense_Mutation SNP T T G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:31600626T>G ENST00000170150.3 + 4 416 c.221T>G c.(220-222)gTc>gGc p.V74G NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 74 extracellular region lipid binding ATTCTGAATGTCCATGTGCCC 0.537000 70 214 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021632 132021632 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:132021632G>A ENST00000356920.5 + 15 2698 c.2604G>A c.(2602-2604)ggG>ggA p.G868G POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 868 Actin-like. ATP binding TCTATGAGGGGAATGCCCTCC 0.617000 29 105 0 0 1 0 0 CCL8 6355 broad.mit.edu 37 17 32647334 32647334 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:32647334G>A ENST00000394620.1 + 2 589 c.123G>A c.(121-123)agG>agA p.R41R NM_005623.2 NP_005614.2 P80075 CCL8_HUMAN chemokine (C-C motif) ligand 8 41 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity NS(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Ovarian(249;0.0443)|Breast(31;0.151) TGATCAATAGGAAAATTCCTA 0.448000 8 50 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254946 51254946 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:51254946C>T ENST00000404971.1 - 2 1805 c.466G>A c.(466-468)Ggg>Agg p.G156R NRXN1_ENST00000406859.3_Missense_Mutation_p.G156R|NRXN1_ENST00000402717.3_Missense_Mutation_p.G156R|NRXN1_ENST00000405581.1_Missense_Mutation_p.G156R|NRXN1_ENST00000406316.2_Missense_Mutation_p.G156R|NRXN1_ENST00000405472.3_Missense_Mutation_p.G156R|NRXN1_ENST00000401669.2_Missense_Mutation_p.G156R NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 156 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGCAGCCCCCCGACGAAAAGG 0.662000 9 27 0 0 1 0 0 STK26 51765 broad.mit.edu 37 X 131203653 131203653 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:131203653G>A ENST00000394334.2 + 7 998 c.745G>A c.(745-747)Gag>Aag p.E249K MST4_ENST00000481105.1_Missense_Mutation_p.E271K|MST4_ENST00000394335.2_Missense_Mutation_p.E172K|MST4_ENST00000354719.6_Missense_Mutation_p.E249K|MST4_ENST00000496850.1_Intron NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 249 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) GTCTTTTAAGGAGTTTATTGA 0.338000 7 29 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20803421 20803421 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:20803421C>T ENST00000359062.3 + 14 2852 c.2812C>T c.(2812-2814)Cgt>Tgt p.R938C PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 938 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGAAAATGATCGTCTACTGGT 0.323000 30 46 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57599031 57599031 + Splice_Site SNP C C T rs138595744 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:57599031C>T ENST00000243077.3 + 73 11800 c.11335_splice c.e73+1 p.I3778_splice NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3778 LDL-receptor class A 31. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACTGCAGCATCGGTGAGGCCC 0.672000 10 91 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43762074 43762074 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:43762074G>A ENST00000263801.3 - 11 1608 c.1356C>T c.(1354-1356)tcC>tcT p.S452S TP53BP1_ENST00000450115.2_Silent_p.S457S|TP53BP1_ENST00000382044.4_Silent_p.S457S|TP53BP1_ENST00000382039.3_Silent_p.S457S NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 452 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) ACTGAGGCTGGGATGGGATAG 0.428000 Other conserved DNA damage response genes 38 111 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482815 76482815 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:76482815G>A ENST00000307431.8 + 7 1276 c.891G>A c.(889-891)cgG>cgA p.R297R CNTNAP4_ENST00000377504.4_Silent_p.R297R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.R273R|CNTNAP4_ENST00000476707.1_Silent_p.R301R NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 298 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TCCATGCACGGGGAGAATTCA 0.413000 3 27 0 0 1 0 0 TMEM150B 284417 broad.mit.edu 37 19 55828197 55828197 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:55828197G>A ENST00000326652.4 - 7 644 c.462C>T c.(460-462)ctC>ctT p.L154L TMEM150B_ENST00000438693.1_Silent_p.L154L A6NC51 T150B_HUMAN transmembrane protein 150B 154 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 GGCCCAGGCGGAGGGGCCCAA 0.612000 7 15 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107147220 107147220 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:107147220G>A ENST00000262843.6 + 4 1397 c.849G>A c.(847-849)atG>atA p.M283I MID2_ENST00000443968.2_Missense_Mutation_p.M283I|RP6-191P20.4_ENST00000430140.1_RNA NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 283 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 CAAAACTTATGGAAGAATGTG 0.433000 16 78 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41739621 41739621 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:41739621C>T ENST00000242208.4 - 2 598 c.352G>A c.(352-354)Gag>Aag p.E118K INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.E118K|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 118 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GAGGTCTGCTCCATAAGTTCA 0.527000 TSP Lung(11;0.080) 136 373 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107052662 107052662 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:107052662C>T ENST00000409886.3 - 12 1762 c.1675G>A c.(1675-1677)Gaa>Aaa p.E559K RGPD3_ENST00000304514.7_Missense_Mutation_p.E559K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 559 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GTGTTTATTTCATGCTGAACT 0.358000 22 129 0 0 1 0 0 RFC1 5981 broad.mit.edu 37 4 39308225 39308225 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:39308225G>A ENST00000381897.1 - 14 2118 c.1985C>T c.(1984-1986)tCc>tTc p.S662F RFC1_ENST00000349703.2_Missense_Mutation_p.S661F NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 662 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 ACACACCAGGGAAGCTGTGGT 0.512000 8 32 0 0 1 0 0 TH 7054 broad.mit.edu 37 11 2185559 2185559 + Silent SNP G G A rs118175546 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:2185559G>A ENST00000381178.1 - 14 1509 c.1491C>T c.(1489-1491)atC>atT p.I497I TH_ENST00000333684.5_Silent_p.I376I|TH_ENST00000381175.1_Silent_p.I493I|TH_ENST00000352909.3_Silent_p.I466I NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 497 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) CCAGCACGTCGATGGCCAGCG 0.667000 11 47 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888901 38888901 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:38888901C>T ENST00000450244.1 - 26 4858 c.4660G>A c.(4660-4662)Gat>Aat p.D1554N SCN11A_ENST00000456224.3_Missense_Mutation_p.D1516N|SCN11A_ENST00000302328.3_Missense_Mutation_p.D1554N Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1554 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGCAGGGAATCCCAACCTGCT 0.468000 24 95 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25299361 25299361 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:25299361C>T ENST00000549804.2 + 0 98 SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA GTGCTTGGATCGATGATGAGT 0.493000 40 188 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123264798 123264798 + Silent SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:123264798T>C ENST00000451558.1 + 10 1148 c.627T>C c.(625-627)ttT>ttC p.F209F ASB15_ENST00000540573.1_Silent_p.F209F|ASB15_ENST00000434204.1_Silent_p.F209F|ASB15_ENST00000275699.3_Silent_p.F209F|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Silent_p.F209F Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 209 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 GAGATGGATTTGGAGTCACAC 0.488000 OREG0018282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 115 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205555197 205555197 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:205555197G>A ENST00000367147.4 + 6 1104 c.1011G>A c.(1009-1011)gtG>gtA p.V337V MFSD4_ENST00000536357.1_Silent_p.V250V|MFSD4_ENST00000539267.1_Silent_p.V337V NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 337 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCTATGCTGTGGAGAAGCCCC 0.602000 9 44 0 0 1 0 0 GJB7 375519 broad.mit.edu 37 6 87994566 87994566 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:87994566C>T ENST00000525899.1 - 3 410 c.65G>A c.(64-66)tGg>tAg p.W22* GJB7_ENST00000296882.3_Nonsense_Mutation_p.W22* NM_198568.2 NP_940970.1 Q6PEY0 CXB7_HUMAN gap junction protein, beta 7, 25kDa 22 cell communication connexon complex|integral to membrane endometrium(2)|large_intestine(3) 5 all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323) BRCA - Breast invasive adenocarcinoma(108;0.0167) CAGCCAAATCCATCCAGTCCC 0.468000 12 93 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120260703 120260703 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:120260703G>A ENST00000392521.2 - 9 1087 c.1032C>T c.(1030-1032)ggC>ggT p.G344G CIT_ENST00000261833.7_Silent_p.G344G NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 344 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCTCTTTCTGGCCGCACAACA 0.393000 31 97 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121659245 121659245 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:121659245G>A ENST00000489711.1 + 21 2311 c.1923G>A c.(1921-1923)atG>atA p.M641I SLC15A2_ENST00000295605.2_Missense_Mutation_p.M610I NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 641 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CCTCTAGCATGAAATCTGTGC 0.498000 24 73 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36365769 36365769 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:36365769C>T ENST00000221891.4 + 10 1534 c.1342C>T c.(1342-1344)Cag>Tag p.Q448* APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Nonsense_Mutation_p.Q442*|APLP1_ENST00000537454.2_Nonsense_Mutation_p.Q409* NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 448 Collagen-binding (By similarity). 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) GATGCGCTTCCAGGTGCTCAC 0.612000 15 22 0 0 1 0 0 OR1K1 392392 broad.mit.edu 37 9 125563178 125563178 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:125563178C>T ENST00000277309.2 + 1 809 c.777C>T c.(775-777)gtC>gtT p.V259V NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 TCATTGCAGTCTACTTCCAGG 0.617000 33 169 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158225110 158225110 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:158225110C>T ENST00000289429.5 + 2 828 c.295C>T c.(295-297)Cgt>Tgt p.R99C NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 99 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TGAGGGAATTCGTAGATACGC 0.468000 47 41 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27423917 27423917 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:27423917G>A ENST00000310574.3 - 16 2186 c.1713C>T c.(1711-1713)tcC>tcT p.S571S SLC5A6_ENST00000408041.1_Silent_p.S571S NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 571 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) ACGGAAGGAGGGACAGGAGCT 0.577000 9 54 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79286268 79286268 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:79286268G>A ENST00000442340.1 + 9 1351 c.861G>A c.(859-861)atG>atA p.M287I TBX22_ENST00000373294.5_Missense_Mutation_p.M407I|TBX22_ENST00000373291.1_Missense_Mutation_p.M287I|TBX22_ENST00000373296.3_Missense_Mutation_p.M407I NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 407 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CCCCACTCATGATGGAAGTGC 0.443000 94 210 0 0 1 0 0 RBBP8NL 140893 broad.mit.edu 37 20 60986000 60986000 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:60986000G>A ENST00000252998.1 - 14 2085 c.1929C>T c.(1927-1929)ccC>ccT p.P643P NM_080833.2 NP_543023.2 RBBP8 N-terminal like TTGGGCTCCCGGGCCCCTCAG 0.662000 46 103 0 0 1 0 0 TBXA2R 6915 broad.mit.edu 37 19 3595812 3595812 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:3595812G>A ENST00000589966.1 - 2 551 c.517C>T c.(517-519)Cct>Tct p.P173S TBXA2R_ENST00000411851.3_Silent_p.I302I|TBXA2R_ENST00000375190.4_Silent_p.I302I P21731 TA2R_HUMAN thromboxane A2 receptor 0 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) AGGGGTCCAGGATCTGGTTCC 0.692000 4 17 0 0 1 0 0 STK40 83931 broad.mit.edu 37 1 36808935 36808935 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:36808935G>A ENST00000359297.2 - 9 1126 c.1119C>T c.(1117-1119)taC>taT p.Y373Y STK40_ENST00000373130.3_Intron|STK40_ENST00000373132.3_Intron|STK40_ENST00000373129.3_Intron Q8N2I9 STK40_HUMAN serine/threonine kinase 40 373 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) TTGGGGCTGGGTAATGGCCCA 0.597000 14 7 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20974717 20974717 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:20974717C>T ENST00000261383.3 - 53 10488 c.10489G>A c.(10489-10491)Gga>Aga p.G3497R DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3497 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TACAGCTTTCCCATATGTTCA 0.488000 7 63 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102793014 102793014 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:102793014C>T ENST00000410023.1 + 12 1823 c.1505C>T c.(1504-1506)tCg>tTg p.S502L AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Missense_Mutation_p.S471L|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Missense_Mutation_p.S502L P14778 IL1R1_HUMAN interleukin 1 receptor, type I 502 TIR. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding p.S502L(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) ATGCCAGAATCGATTAAATTC 0.433000 21 46 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73073478 73073478 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:73073478G>A ENST00000263674.3 + 14 5045 c.4694_splice c.e14-1 p.R1565_splice NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1565 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CTTCTCGCAGGGAGCCTCCTC 0.736000 16 14 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45461956 45461956 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:45461956C>T ENST00000303230.4 - 3 1060 c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 335 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ACAACCATTTCATTTAAAGAC 0.398000 8 48 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120952509 120952509 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:120952509C>T ENST00000273666.6 + 12 1429 c.1158C>T c.(1156-1158)ctC>ctT p.L386L STXBP5L_ENST00000472879.1_Silent_p.L386L|STXBP5L_ENST00000497029.1_Silent_p.L386L|STXBP5L_ENST00000492541.1_Silent_p.L386L|STXBP5L_ENST00000471454.1_Silent_p.L386L NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 386 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) AGAAAGATCTCATTGTAGTTG 0.279000 9 50 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917300 26917300 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:26917300G>A ENST00000539517.2 - 5 1706 c.1389C>T c.(1387-1389)ttC>ttT p.F463F NOVA1_ENST00000267422.7_Silent_p.F341F|NOVA1_ENST00000465357.2_Silent_p.F439F NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 466 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGCCAGGTACGAATTCTCCTT 0.423000 16 49 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950649 235950649 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:235950649C>T ENST00000409212.1 + 4 1743 c.1236C>T c.(1234-1236)ggC>ggT p.G412G SH3BP4_ENST00000392011.2_Silent_p.G412G|SH3BP4_ENST00000344528.4_Silent_p.G412G Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 412 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) GCACAGTGGGCCTCCAGTGCC 0.537000 13 48 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10254918 10254918 + Missense_Mutation SNP G G A rs35365223 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:10254918G>A ENST00000256458.4 + 5 646 c.556G>A c.(556-558)Gaa>Aaa p.E186K NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 186 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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 cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 TCCTAAGCAGGAAAAACTTTT 0.498000 18 77 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99483948 99483948 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:99483948C>T ENST00000376460.1 - 40 4418 c.4338G>A c.(4336-4338)acG>acA p.T1446T DOCK9_ENST00000339416.2_Silent_p.T1447T|DOCK9_ENST00000448493.2_3'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1447 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) TTTTTAAAGCCGTTTCAGACT 0.393000 16 37 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99013661 99013661 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:99013661C>T ENST00000393504.1 + 8 2445 c.2028C>T c.(2026-2028)ccC>ccT p.P676P CNGA3_ENST00000409937.1_Silent_p.P680P|CNGA3_ENST00000272602.2_Silent_p.P676P|CNGA3_ENST00000436404.2_Silent_p.P658P NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 676 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 GGGACAAGCCCCTGGCTGATG 0.557000 8 61 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369571 56369571 + Missense_Mutation SNP C C T rs147621156 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:56369571C>T ENST00000301295.6 + 3 1234 c.812C>T c.(811-813)cCg>cTg p.P271L NLRP4_ENST00000587891.1_Missense_Mutation_p.P196L|NLRP4_ENST00000346986.5_Missense_Mutation_p.P271L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 271 NACHT. ATP binding p.P271L(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AAGATGCTCCCGGAGGCCTCC 0.582000 39 77 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137271945 137271945 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:137271945G>A ENST00000453654.1 - 13 962 c.423C>T c.(421-423)atC>atT p.I141I DGKI_ENST00000288490.5_Silent_p.I441I|DGKI_ENST00000424189.2_Silent_p.I441I|DGKI_ENST00000446122.1_Silent_p.I441I O75912 DGKI_HUMAN diacylglycerol kinase, iota 441 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 GGATGGAAAGGATCCAGCCCA 0.517000 9 103 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135469994 135469994 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:135469994G>A ENST00000394143.1 + 16 8163 c.7872G>A c.(7870-7872)acG>acA p.T2624T GPR112_ENST00000412101.1_Silent_p.T2419T|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Silent_p.T2419T|GPR112_ENST00000370652.1_Silent_p.T2624T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2624 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACTTACAAACGATCTTGTTTA 0.398000 59 150 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41154021 41154021 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:41154021G>A ENST00000263413.3 - 15 2445 c.2181C>T c.(2179-2181)tcC>tcT p.S727S C6_ENST00000337836.5_Silent_p.S727S NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 727 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTAGCTCAATGGATTCACCAA 0.473000 25 68 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834288 125834288 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:125834288C>T ENST00000299308.3 + 2 351 c.343C>T c.(343-345)Ccc>Tcc p.P115S TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 115 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) GGACAAATTTCCCTTCAACTG 0.468000 90 126 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228897 3228897 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:3228897G>A ENST00000217939.6 - 7 7501 c.7347C>T c.(7345-7347)atC>atT p.I2449I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2449 Ig-like C2-type 9. 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) GCACAGTGGTGATGGGGTTGG 0.587000 13 61 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24873482 24873482 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:24873482G>A ENST00000396432.2 - 26 6222 c.5736C>T c.(5734-5736)tcC>tcT p.S1912S NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1911 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GTGGTGGTATGGAAAGAAGGG 0.488000 23 116 0 0 1 0 0 NT5DC3 51559 broad.mit.edu 37 12 104190780 104190780 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:104190780G>A ENST00000392876.3 - 6 685 c.645C>T c.(643-645)ttC>ttT p.F215F NT5DC3_ENST00000465502.1_5'UTR NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 215 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 AGATGTCCATGAACTGCTTCA 0.522000 22 119 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41000803 41000803 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:41000803C>T ENST00000399564.4 - 38 4777 c.4327G>A c.(4327-4329)Gat>Aat p.D1443N MROH2B_ENST00000506092.2_Missense_Mutation_p.D998N NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GGGTTGGGATCCCAAAGGTGC 0.478000 4 25 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71158482 71158482 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:71158482C>T ENST00000283228.2 - 3 886 c.434G>A c.(433-435)gGa>gAa p.G145E PTPRR_ENST00000342084.4_Missense_Mutation_p.G33E NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 145 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GGGTAAGAGTCCTAAAGCTGC 0.413000 12 103 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21054287 21054287 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:21054287G>A ENST00000381545.3 + 15 1970 c.1751G>A c.(1750-1752)gGa>gAa p.G584E SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G584E|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G584E|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.G584E NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 584 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) GTTGCAGGAGGAATTCTAGCT 0.363000 23 141 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233807084 233807084 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:233807084G>A ENST00000366621.3 + 3 987 c.819G>A c.(817-819)ctG>ctA p.L273L KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.L157L NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 273 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TCCATGAGCTGAAAAAATTCA 0.448000 26 90 0 0 1 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46919221 46919221 + Missense_Mutation SNP G G C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:46919221G>C ENST00000258947.3 + 2 253 c.152G>C c.(151-153)cGt>cCt p.R51P CALCOCO2_ENST00000448105.2_Missense_Mutation_p.R51P|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.R51P|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.R51P|CALCOCO2_ENST00000508679.1_Intron NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4 NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 51 response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 TTCATCCCTCGTCGAAAGGAT 0.433000 12 100 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159514625 159514625 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:159514625C>T ENST00000307765.5 + 3 511 c.260C>T c.(259-261)cCt>cTt p.P87L RXFP1_ENST00000460056.2_Missense_Mutation_p.P6L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P6L|RXFP1_ENST00000470033.1_Intron|RXFP1_ENST00000423548.1_Missense_Mutation_p.P87L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P87L NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 87 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TCCCAATATCCTTTTGAGGCA 0.318000 14 34 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31692215 31692215 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:31692215G>A ENST00000319386.3 + 14 3456 c.2463G>A c.(2461-2463)caG>caA p.Q821Q CCDC129_ENST00000409210.1_Silent_p.Q877Q|CCDC129_ENST00000407970.3_Silent_p.Q969Q|CCDC129_ENST00000451887.2_Silent_p.Q995Q Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 969 Cys-rich. cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GCAATGGGCAGACTTCATGTT 0.502000 13 31 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640685 57640685 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:57640685G>A ENST00000254181.4 + 4 1096 c.642G>A c.(640-642)gaG>gaA p.E214E USP29_ENST00000598197.1_Silent_p.E214E NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 214 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) CAAGTTTAGAGGATTTAGAAA 0.368000 16 97 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137779204 137779204 + Silent SNP G G A rs150154280 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:137779204G>A ENST00000350339.2 + 7 785 c.771G>A c.(769-771)tcG>tcA p.S257S FCN2_ENST00000291744.6_Silent_p.S295S NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 295 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) ACTGGAAGTCGGGGAAAGGAT 0.537000 27 69 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21249823 21249823 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:21249823C>T ENST00000233242.1 - 15 2208 c.2081G>A c.(2080-2082)gGa>gAa p.G694E APOB_ENST00000399256.4_Missense_Mutation_p.G694E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 694 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AAAGCCTTTTCCTTCCAAGCC 0.418000 21 47 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9062445 9062445 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:9062445G>A ENST00000397910.4 - 3 25204 c.25001C>T c.(25000-25002)aCc>aTc p.T8334I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8336 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 TTCCAAAGTGGTCAGTCTCTC 0.493000 15 130 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104081964 104081964 + Missense_Mutation SNP G G A rs144650963 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:104081964G>A ENST00000388887.2 + 28 3220 c.3016G>A c.(3016-3018)Gaa>Aaa p.E1006K NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1006 FAS1 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ATTTCTCTCCGAAGCAGCTAT 0.373000 67 74 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128475388 128475388 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:128475388G>A ENST00000325888.8 + 2 622 c.361G>A c.(361-363)Gcc>Acc p.A121T FLNC_ENST00000346177.6_Missense_Mutation_p.A121T NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 121 Actin-binding.|CH 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 AGACAGCAAGGCCATCGTGGA 0.637000 11 160 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158813902 158813902 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:158813902C>T ENST00000368141.4 + 4 821 c.560C>T c.(559-561)tCg>tTg p.S187L NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 187 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TCCAACACTTCGTTTACTCCG 0.493000 29 157 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108076945 108076945 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:108076945G>A ENST00000357759.5 + 6 1354 c.940G>A c.(940-942)Gaa>Aaa p.E314K HHLA2_ENST00000467761.1_Missense_Mutation_p.E314K|HHLA2_ENST00000467562.1_Missense_Mutation_p.E250K|HHLA2_ENST00000489514.2_Missense_Mutation_p.E314K|HHLA2_ENST00000491820.1_Missense_Mutation_p.E314K NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 314 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 AGACAGTGGGGAATATTTATG 0.363000 38 73 0 0 1 0 0 ERV3-1 2086 broad.mit.edu 37 7 64452580 64452580 + Missense_Mutation SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:64452580T>A ENST00000394323.2 - 2 1325 c.825A>T c.(823-825)ttA>ttT p.L275F NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 275 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 gttgggcgaataaattactgg 0.498000 17 112 0 0 1 0 0 SMYD2 56950 broad.mit.edu 37 1 214454717 214454717 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:214454717C>T ENST00000366957.5 + 1 142 c.120C>T c.(118-120)gcC>gcT p.A40A SMYD2_ENST00000415093.2_Silent_p.A40A|SMYD2_ENST00000491455.1_3'UTR NM_020197.2 NP_064582.2 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 40 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) CGGCCTATGCCTACGTGCTCA 0.736000 11 17 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417170 150417170 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:150417170C>T ENST00000307194.5 + 3 218 c.78C>T c.(76-78)tcC>tcT p.S26S NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCAGGAGTCCACGCGGAGGC 0.552000 43 495 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640777 179640777 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179640777G>A ENST00000589042.1 - 28 6038 c.5814C>T c.(5812-5814)gtC>gtT p.V1938V TTN_ENST00000342992.6_Silent_p.V1938V|TTN_ENST00000591111.1_Silent_p.V1938V|TTN_ENST00000360870.5_Silent_p.V1938V|TTN_ENST00000359218.5_Silent_p.V1892V|TTN_ENST00000460472.2_Silent_p.V1892V|TTN_ENST00000342175.6_Silent_p.V1892V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1670 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V1892V(3)|p.V1938V(3) 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) CTCTCCTAAGGACAGACCTAA 0.453000 79 237 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2375200 2375200 + Missense_Mutation SNP C C T rs140181785 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:2375200C>T ENST00000202625.2 + 2 171 c.110C>T c.(109-111)tCg>tTg p.S37L TGM6_ENST00000381423.1_Missense_Mutation_p.S37L|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 37 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.S37*(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) AGGGGCCAGTCGTTCAGCCTC 0.617000 6 32 0 0 1 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691928 31691928 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:31691928G>A ENST00000360542.3 - 1 679 c.426C>T c.(424-426)gcC>gcT p.A142A NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 142 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GGGGGCGATAGGCATTGGGCA 0.552000 84 252 0 0 1 0 0 CHKB 1120 broad.mit.edu 37 22 51018251 51018251 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:51018251A>G ENST00000406938.2 - 9 1153 c.936T>C c.(934-936)ttT>ttC p.F312F CHKB-CPT1B_ENST00000452668.1_5'UTR NM_005198.4 NP_005189.2 Q9Y259 CHKB_HUMAN choline kinase beta 312 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1) 15 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) AATGACGAATAAAATGCAACT 0.488000 44 146 0 0 1 0 0 YBX3 8531 broad.mit.edu 37 12 10856686 10856686 + Missense_Mutation SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:10856686A>G ENST00000228251.4 - 7 1042 c.842T>C c.(841-843)gTt>gCt p.V281A YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Missense_Mutation_p.V212A NM_003651.4 NP_003642.3 Y box binding protein 3 ATTTCGATGAACCGGTCCCTG 0.507000 25 91 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9062037 9062037 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:9062037G>A ENST00000397910.4 - 3 25612 c.25409C>T c.(25408-25410)tCa>tTa p.S8470L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8472 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 GATGTCTGGTGATATGGTGAA 0.498000 36 241 0 0 1 0 0 PCBP2 5094 broad.mit.edu 37 12 53853069 53853069 + Missense_Mutation SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:53853069C>A ENST00000603815.1 + 6 607 c.257C>A c.(256-258)tCt>tAt p.S86Y PCBP2_ENST00000541275.1_Missense_Mutation_p.S86Y|PCBP2_ENST00000552819.1_Missense_Mutation_p.S86Y|PCBP2_ENST00000552296.2_Missense_Mutation_p.S86Y|PCBP2_ENST00000359462.5_Missense_Mutation_p.S86Y|PCBP2_ENST00000359282.5_Missense_Mutation_p.S86Y|PCBP2_ENST00000546463.1_Missense_Mutation_p.S86Y|PCBP2_ENST00000455667.3_Missense_Mutation_p.S86Y|PCBP2_ENST00000439930.3_Missense_Mutation_p.S86Y|PCBP2_ENST00000437231.1_Missense_Mutation_p.S86Y|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Missense_Mutation_p.S86Y|PCBP2_ENST00000548933.1_Missense_Mutation_p.S86Y|PCBP2_ENST00000549863.1_Missense_Mutation_p.S86Y NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 86 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 ATAAGCAGCTCTATGACCAAT 0.483000 54 126 2.01807e-28 2.04767e-28 1 1 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647413 33647413 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:33647413C>T ENST00000558425.1 - 2 186 c.187G>A c.(187-189)Gga>Aga p.G63R CACTCCAGTCCCTTCCCTGGA 0.532000 55 381 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31377986 31377986 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:31377986G>A ENST00000297142.3 - 2 1219 c.897C>T c.(895-897)ccC>ccT p.P299P NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 299 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CCTGCCCAAGGGGACCCCTGG 0.473000 15 87 0 0 1 0 0 TUBBP1 92755 broad.mit.edu 37 8 30210501 30210501 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:30210501C>T ENST00000518096.1 + 0 1113 TGAAGGAGGTCGATGAGCAGA 0.542000 38 106 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14980716 14980716 + Silent SNP C C T rs147492209 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:14980716C>T ENST00000287667.7 + 28 3492 c.3321C>T c.(3319-3321)ggC>ggT p.G1107G NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1107 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 TCAGAGACGGCGAGGTAATGC 0.463000 44 246 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17108002 17108002 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:17108002G>A ENST00000443236.1 - 11 1186 c.1155C>T c.(1153-1155)ccC>ccT p.P385P CPAMD8_ENST00000388925.4_Silent_p.P338P NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 338 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GCCTCTGCACGGGGGTGGAGT 0.642000 9 43 0 0 1 0 0 MRPL20 55052 broad.mit.edu 37 1 1342378 1342378 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:1342378G>A ENST00000482352.1 - 2 181 c.109C>T c.(109-111)Cgc>Tgc p.R37C MRPL20_ENST00000344843.7_Missense_Mutation_p.R37C Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 37 protein binding|rRNA binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CTGTAGCAGCGATTTTTCCTT 0.597000 69 224 0 0 1 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99758545 99758545 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:99758545G>A ENST00000360039.4 - 4 859 c.467C>T c.(466-468)tCc>tTc p.S156F GAL3ST4_ENST00000423751.1_Missense_Mutation_p.P55S|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.P55S|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S156F|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S94F NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 156 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCGGACAATGGAAAAAAAGAA 0.522000 7 101 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383340 22383340 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:22383340C>T ENST00000328795.4 + 1 959 c.868C>T c.(868-870)Cgc>Tgc p.R290C RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTATACCCTTCGCAACCAGGA 0.413000 13 246 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976804 106976804 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:106976804G>A ENST00000369701.3 + 19 2885 c.2658G>A c.(2656-2658)gcG>gcA p.A886A SORCS3_ENST00000369699.4_Silent_p.A172A NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 886 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ATAAGAGTGCGGGGATCTTCC 0.527000 38 50 0 0 1 0 0 PPAPDC3 84814 broad.mit.edu 37 9 134165395 134165395 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:134165395C>T ENST00000372264.3 + 1 315 c.11C>T c.(10-12)tCc>tTc p.S4F PPAPDC3_ENST00000372261.1_Missense_Mutation_p.S4F NM_032728.3 NP_116117.3 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain containing 3 4 endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) ATGCCAGCTTCCCAGAGCCGG 0.711000 4 28 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84745001 84745001 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:84745001C>T ENST00000372142.2 + 11 1414 c.1140C>T c.(1138-1140)atC>atT p.I380I NRG3_ENST00000537893.1_Silent_p.I227I|NRG3_ENST00000556918.1_Silent_p.I407I|NRG3_ENST00000404576.2_Silent_p.I381I|NRG3_ENST00000545131.1_Silent_p.I227I|NRG3_ENST00000404547.1_Silent_p.I601I|NRG3_ENST00000372141.2_Silent_p.I577I NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 601 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TGCCCATCATCCCTTCAGTGG 0.468000 88 142 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128182007 128182007 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:128182007G>A ENST00000469083.1 - 2 2639 c.82C>T c.(82-84)Ctt>Ttt p.L28F DNAJB8_ENST00000319153.3_Missense_Mutation_p.L28F Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 28 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) TGCCAACGAAGGGCCAGCTTG 0.577000 33 248 0 0 1 0 0 ASNSD1 54529 broad.mit.edu 37 2 190532172 190532172 + Missense_Mutation SNP G G T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:190532172G>T ENST00000260952.4 + 4 1727 c.1314G>T c.(1312-1314)caG>caT p.Q438H ASNSD1_ENST00000607062.1_Intron NM_019048.2 NP_061921.1 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 438 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) AAGAACTGCAGAAATTAAGAA 0.403000 21 165 0.000132079 0.000132398 1 1 0 SLC9C1 285335 broad.mit.edu 37 3 111887905 111887905 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:111887905C>T ENST00000305815.5 - 25 3308 c.3056G>A c.(3055-3057)tGg>tAg p.W1019* SLC9C1_ENST00000487372.1_Nonsense_Mutation_p.W971* NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 1019 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ATTGTAGTTCCAATCCTGTTT 0.259000 9 36 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40661749 40661749 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:40661749C>T ENST00000267889.3 + 8 3523 c.3436C>T c.(3436-3438)Cgc>Tgc p.R1146C RP11-64K12.4_ENST00000558421.1_RNA NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 1146 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GAAGGCAGGCCGCCCACGACC 0.647000 12 91 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66949187 66949187 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:66949187G>A ENST00000299752.4 - 6 712 c.519C>T c.(517-519)gcC>gcT p.A173A CDH16_ENST00000565796.1_Silent_p.A173A|CDH16_ENST00000570262.1_Silent_p.A93A|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000394055.3_Silent_p.A173A NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 173 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GGGAAGGCTGGGCTGGAGCCT 0.647000 10 72 0 0 1 0 0 VPS37B 79720 broad.mit.edu 37 12 123351714 123351714 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:123351714C>T ENST00000267202.2 - 4 1188 c.807G>A c.(805-807)caG>caA p.Q269Q NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 269 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) GCGGGGGTCTCTGAGGGAGAG 0.672000 14 20 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140246635 140246635 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:140246635G>A ENST00000275884.6 - 12 2559 c.2142C>T c.(2140-2142)atC>atT p.I714I DENND2A_ENST00000537639.1_Silent_p.I714I|DENND2A_ENST00000496613.1_Silent_p.I714I|DENND2A_ENST00000492720.1_Silent_p.I714I Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 714 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TCTTGACAAGGATGGTTTTGC 0.562000 27 66 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126237691 126237691 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:126237691G>A ENST00000394329.3 + 1 138 c.125G>A c.(124-126)gGg>gAg p.G42E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 42 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGGGTCCACGGGGCCGAGCCG 0.632000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 128 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109773146 109773146 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:109773146C>T ENST00000277225.5 + 13 7645 c.7356C>T c.(7354-7356)caC>caT p.H2452H RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Silent_p.H1358H|ZNF462_ENST00000457913.1_Silent_p.H2512H|ZNF462_ENST00000542028.1_Silent_p.H409H Q96JM2 ZN462_HUMAN zinc finger protein 462 2452 H -> L (in dbSNP:rs10217192). transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AAGAAATCCACCCAAAAGAGA 0.388000 4 42 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83866963 83866963 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:83866963T>C ENST00000349129.2 + 35 6927 c.6667T>C c.(6667-6669)Ttt>Ctt p.F2223L DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.F2214L NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 2223 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AGTGTTCCTGTTTTTCAGAGT 0.388000 14 99 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771345 143771345 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:143771345C>T ENST00000408898.2 + 1 71 c.33C>T c.(31-33)ttC>ttT p.F11F NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 11 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) TCACAGAGTTCCTCCTACTGG 0.478000 14 169 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45353240 45353240 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:45353240C>T ENST00000303230.4 - 5 1396 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 447 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGAATATTTTCCTCATCAAAG 0.343000 9 57 0 0 1 0 0 MARS 4141 broad.mit.edu 37 12 57908737 57908737 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:57908737G>A ENST00000262027.5 + 17 2234 c.2099_splice c.e17-1 p.R700_splice MARS_ENST00000315473.5_Splice_Site_p.R466_splice NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 700 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) CCCTTCCCAGGATCCGGGATG 0.507000 59 65 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40702500 40702500 + Splice_Site SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:40702500T>C ENST00000298910.7 + 29 4247 c.e29+2 NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATTTTGCAGGTATTTCTTTCT 0.368000 5 76 0 0 1 0 0 CLCN4 1183 broad.mit.edu 37 X 10182060 10182060 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:10182060C>T ENST00000380833.4 + 11 2307 c.1916C>T c.(1915-1917)tCc>tTc p.S639F CLCN4_ENST00000421085.2_Missense_Mutation_p.S545F|CLCN4_ENST00000380829.1_Missense_Mutation_p.S608F NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 639 CBS 1. early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTGGTGGTCTCCAGAGACTCC 0.562000 4 39 0 0 1 0 0 C19orf18 147685 broad.mit.edu 37 19 58472789 58472789 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:58472789C>T ENST00000314391.3 - 5 603 c.502G>A c.(502-504)Gaa>Aaa p.E168K NM_152474.4 NP_689687.1 Q8NEA5 CS018_HUMAN chromosome 19 open reading frame 18 168 integral to membrane p.E168K(1) large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) AGCTCATTTTCGTTCTCTGGA 0.488000 23 80 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91549210 91549210 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:91549210C>T ENST00000509176.1 + 6 2047 c.1759C>T c.(1759-1761)Caa>Taa p.Q587* CCSER1_ENST00000432775.2_Nonsense_Mutation_p.Q587*|CCSER1_ENST00000333691.8_Nonsense_Mutation_p.Q587* NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 GGACGTTGATCAAGAAGCCAG 0.433000 16 81 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52160894 52160894 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:52160894G>A ENST00000282588.6 + 5 932 c.474G>A c.(472-474)gtG>gtA p.V158V NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 158 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TTCAAGTCGTGAATTCCATTG 0.393000 19 82 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123102893 123102893 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:123102893C>T ENST00000333479.7 + 58 6211 c.6034C>T c.(6034-6036)Ccc>Tcc p.P2012S KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000450485.2_Missense_Mutation_p.P937S|KNTC1_ENST00000436959.3_5'UTR NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 2012 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTCACAGGTTCCCTACTTCAG 0.443000 5 29 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94316860 94316860 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:94316860G>A ENST00000282020.4 + 9 1605 c.e9+1 GRID2_ENST00000510992.1_Splice_Site NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AACTGTTCTGGTAAGTATTAT 0.373000 12 94 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310661 57310661 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:57310661G>A ENST00000457912.1 + 2 600 c.600G>A c.(598-600)agG>agA p.R200R SMTNL1_ENST00000527972.1_Silent_p.R182R|SMTNL1_ENST00000399154.2_Intron E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 182 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 CAGGCCAGAGGAAAGAGTGCA 0.552000 10 20 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101969868 101969868 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:101969868C>T ENST00000543253.1 + 5 990 c.71C>T c.(70-72)gCt>gTt p.A24V GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24V|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A24V NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 GAGGTTATCGCTGGGCCTGAG 0.527000 25 167 0 0 1 0 0 RHOF 54509 broad.mit.edu 37 12 122218820 122218820 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:122218820C>T ENST00000267205.2 - 4 1057 c.429G>A c.(427-429)cgG>cgA p.R143R TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_Intron NM_019034.2 NP_061907.2 Q9HBH0 RHOF_HUMAN ras homolog family member F (in filopodia) 143 actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity large_intestine(1)|lung(1)|ovary(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223) CCCGGAGCTTCCGCAGCTGCT 0.652000 5 39 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841841 5841841 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:5841841G>A ENST00000317037.2 + 1 298 c.276G>A c.(274-276)aaG>aaA p.K92K TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAACCTCAAGGAGATTGACT 0.522000 23 169 0 0 1 0 0 ATG14 22863 broad.mit.edu 37 14 55836455 55836455 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:55836455G>A ENST00000247178.5 - 10 1396 c.1361C>T c.(1360-1362)tCc>tTc p.S454F NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 454 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 CTGACTCTGGGAGACTTCCAC 0.587000 16 84 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169533060 169533060 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:169533060G>A ENST00000449804.2 + 1 144 c.99G>A c.(97-99)gaG>gaA p.E33E FOXI1_ENST00000306268.6_Silent_p.E33E NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 33 Pro-rich. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.E33D(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTACTATGAGAACTTCTTCC 0.677000 Pendred syndrome 8 36 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18264850 18264850 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:18264850G>A ENST00000251900.4 - 13 1828 c.1669C>T c.(1669-1671)Cct>Tct p.P557S SCML2_ENST00000398048.3_Missense_Mutation_p.P293S NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 557 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) CTACAGGCAGGATTCAAATAA 0.423000 55 121 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459728 107459728 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:107459728C>T ENST00000409382.3 - 2 1316 c.706G>A c.(706-708)Gtg>Atg p.V236M ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V236M|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V236M NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 236 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CGGAAGCGCACCCCGTGCTTG 0.677000 3 15 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43896935 43896935 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:43896935G>A ENST00000450892.2 - 20 4117 c.4040C>T c.(4039-4041)tCc>tTc p.S1347F STRC_ENST00000541030.1_Missense_Mutation_p.S574F NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1347 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) ACTGAGATGGGACAGCAGGAT 0.557000 29 79 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21530063 21530063 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:21530063C>T ENST00000313654.9 + 72 9823 c.9582C>T c.(9580-9582)atC>atT p.I3194I LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.I3138I|LAMA3_ENST00000587184.1_Silent_p.I1529I|LAMA3_ENST00000269217.6_Silent_p.I1585I NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 3194 Laminin G-like 5. 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) TCACTGGGATCCTAATACACA 0.463000 8 67 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100166735 100166735 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:100166735C>T ENST00000547776.2 - 8 1092 c.1093G>A c.(1093-1095)Gag>Aag p.E365K ANKS1B_ENST00000329257.7_Missense_Mutation_p.E365K|ANKS1B_ENST00000547010.1_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 365 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AGTTCTTCCTCTGAAATCTTG 0.393000 23 49 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030428 95030428 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:95030428G>A ENST00000557004.1 + 2 1030 c.609G>A c.(607-609)aaG>aaA p.K203K SERPINA4_ENST00000555095.1_Silent_p.K203K|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.K203K P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 203 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) AGCTCAAGAAGGACGTCTTGA 0.458000 74 163 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76886494 76886494 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:76886494C>T ENST00000409709.3 + 18 2443 c.2171C>T c.(2170-2172)aCc>aTc p.T724I MYO7A_ENST00000409893.1_Missense_Mutation_p.T724I|MYO7A_ENST00000458637.2_Missense_Mutation_p.T724I|MYO7A_ENST00000409619.2_Missense_Mutation_p.T713I NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 724 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ATAGGCAAAACCAAGATCTTT 0.617000 105 124 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75114936 75114936 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:75114936C>T ENST00000326665.5 - 2 305 c.87G>A c.(85-87)agG>agA p.R29R NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 29 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 GACGCCTTATCCTTGTATTGT 0.353000 38 63 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91642777 91642777 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:91642777A>T ENST00000373094.1 + 5 4033 c.3188A>T c.(3187-3189)gAa>gTa p.E1063V PCDH11X_ENST00000373088.1_Missense_Mutation_p.E1026V|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000298274.8_Missense_Mutation_p.E1026V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.E1053V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.E1063V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.E1053V NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1063 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GGCTCTCAGGAAAGCAGCAGT 0.493000 18 136 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71101260 71101260 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:71101260C>T ENST00000393567.2 - 15 2158 c.2008G>A c.(2008-2010)Gag>Aag p.E670K HYDIN_ENST00000448691.1_Missense_Mutation_p.E670K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E670K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E685K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E670K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E687K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E697K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E687K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 670 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGTGCCAGCTCGTATTTCTGC 0.527000 13 62 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49377896 49377896 + Missense_Mutation SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:49377896A>G ENST00000200453.5 + 2 1675 c.1406A>G c.(1405-1407)cAt>cGt p.H469R NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 469 4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) TCAGACCCACATCCCTCCCAC 0.567000 26 111 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 2999054 2999054 + Splice_Site SNP G G T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:2999054G>T ENST00000381127.1 + 5 627 c.406_splice c.e5+1 p.G136_splice ARSF_ENST00000537104.1_Splice_Site_p.G136_splice|ARSF_ENST00000359361.2_Splice_Site_p.G136_splice NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 136 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGGGCTTATAGGTAAGACACA 0.423000 16 102 2.23348e-06 2.24249e-06 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25449569 25449569 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:25449569G>A ENST00000424208.1 + 0 2339 SNORD115-19_ENST00000363098.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 ATTCTCAAAAGGATTATGCTG 0.498000 86 257 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208369 58208369 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:58208369G>A ENST00000377918.3 + 1 1715 c.1689G>A c.(1687-1689)ttG>ttA p.L563L NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 563 Cadherin 5. 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) CCGCGCACTTGGAGAGCAACG 0.617000 11 72 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144993787 144993787 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:144993787G>A ENST00000322810.4 - 32 10782 c.10613C>T c.(10612-10614)cCc>cTc p.P3538L PLEC_ENST00000527096.1_Missense_Mutation_p.P3424L|PLEC_ENST00000354589.3_Missense_Mutation_p.P3401L|PLEC_ENST00000436759.2_Missense_Mutation_p.P3428L|PLEC_ENST00000398774.2_Missense_Mutation_p.P3369L|PLEC_ENST00000354958.2_Missense_Mutation_p.P3379L|PLEC_ENST00000356346.3_Missense_Mutation_p.P3387L|PLEC_ENST00000357649.2_Missense_Mutation_p.P3405L|PLEC_ENST00000345136.3_Missense_Mutation_p.P3401L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3538 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 GTTCCGCACGGGGTCCACCAG 0.692000 5 24 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676310 11676310 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:11676310C>T ENST00000423059.3 - 2 720 c.469G>A c.(469-471)Gag>Aag p.E157K THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 157 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CACGCTATCTCCCTCACCTGA 0.502000 HNSCC(18;0.044) 19 64 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1544335 1544335 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:1544335C>T ENST00000262319.6 + 2 332 c.53C>T c.(52-54)gCc>gTc p.A18V NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 18 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) GCCATTCATGCCCTCTCGTCT 0.622000 OREG0023547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 128 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141752127 141752127 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:141752127G>A ENST00000475668.2 + 25 2893 c.2839G>A c.(2839-2841)Gga>Aga p.G947R MGAM_ENST00000549489.2_Missense_Mutation_p.G947R O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 947 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCTTCTCCTGGGAGAAGCATA 0.418000 10 12 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144942300 144942300 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:144942300C>T ENST00000525985.1 - 2 5193 c.5122G>A c.(5122-5124)Ggc>Agc p.G1708S P58107 EPIPL_HUMAN epiplakin 1 1708 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCGAAGTAGCCGCAGCGGTAG 0.672000 8 124 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160784355 160784355 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:160784355G>A ENST00000263285.5 + 4 906 c.876G>A c.(874-876)gaG>gaA p.E292E LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Silent_p.E292E|LY9_ENST00000368041.2_Silent_p.E252E NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 292 Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTAGCAAAGAGAGGGAAGAAG 0.547000 56 75 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152697599 152697599 + Missense_Mutation SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:152697599C>A ENST00000367255.5 - 58 9842 c.9241G>T c.(9241-9243)Gtt>Ttt p.V3081F SYNE1_ENST00000448038.1_Missense_Mutation_p.V3088F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3081F|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3120F|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3088F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3081 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTGCATTAACCAACCACTGC 0.378000 HNSCC(10;0.0054) 36 69 5.8336e-16 5.89516e-16 1 1 0 DOCK8 81704 broad.mit.edu 37 9 399220 399220 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:399220G>A ENST00000432829.2 + 26 3307 c.2991G>A c.(2989-2991)cgG>cgA p.R997R DOCK8_ENST00000382331.1_Silent_p.R367R|DOCK8_ENST00000453981.1_Silent_p.R1065R|DOCK8_ENST00000469391.1_Silent_p.R965R|DOCK8_ENST00000382329.1_Silent_p.R532R NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1065 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TCATGGATCGGGGCTTTGTGT 0.483000 12 73 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46306657 46306657 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:46306657C>T ENST00000397850.2 - 16 2693 c.2241G>A c.(2239-2241)tgG>tgA p.W747* ITGB2_ENST00000397852.1_Nonsense_Mutation_p.W747*|ITGB2_ENST00000355153.4_Nonsense_Mutation_p.W747*|ITGB2_ENST00000397857.1_Nonsense_Mutation_p.W747*|ITGB2_ENST00000397854.3_Nonsense_Mutation_p.W690*|ITGB2_ENST00000302347.5_Nonsense_Mutation_p.W747* P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 747 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) TTACATTGTTCCACTGGGACT 0.612000 14 90 0 0 1 0 0 OVCH2 341277 broad.mit.edu 37 11 7718278 7718278 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:7718278G>A ENST00000454689.1 - 0 993 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) TAATATAGGTGGAGGCTTTCT 0.557000 13 16 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31997061 31997061 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:31997061G>A ENST00000435363.2 + 28 3706 c.3622G>A c.(3622-3624)Gac>Aac p.D1208N C4B_ENST00000425700.2_Missense_Mutation_p.D1208N NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1208 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity GGCCCCTGCGGACCTGCGGGG 0.647000 11 71 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189061765 189061765 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:189061765G>A ENST00000332517.3 + 2 632 c.492G>A c.(490-492)gtG>gtA p.V164V NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 164 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AGGAGAGAGTGAAACTGTGCC 0.423000 18 104 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155643121 155643121 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:155643121C>T ENST00000496455.1 + 12 1861 c.1526C>T c.(1525-1527)gCc>gTc p.A509V GMPS_ENST00000295920.7_Missense_Mutation_p.A410V NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 509 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCACTGAATGCCTTCTTGCTG 0.403000 T MLL AML 4 53 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85436400 85436400 + Missense_Mutation SNP G G A rs147682106 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:85436400G>A ENST00000359152.5 - 1 2671 c.2672C>T c.(2671-2673)cCc>cTc p.P891L SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P367L|SYTL2_ENST00000354566.3_Missense_Mutation_p.P367L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) AGCATCCTGGGGAAAAAGCAT 0.493000 54 123 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19047137 19047137 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:19047137G>A ENST00000421369.3 + 7 1225 c.667G>A c.(667-669)Gag>Aag p.E223K TMC7_ENST00000304381.5_Missense_Mutation_p.E333K|TMC7_ENST00000561963.1_Intron|TMC7_ENST00000569532.1_Missense_Mutation_p.E333K NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 333 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CTTGCGGTACGAGCTCCGAGT 0.552000 18 59 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 980483 980483 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:980483C>T ENST00000537687.1 + 10 4074 c.3431C>T c.(3430-3432)tCa>tTa p.S1144L WNK1_ENST00000535572.1_Missense_Mutation_p.S731L|WNK1_ENST00000530271.2_Missense_Mutation_p.S1229L|WNK1_ENST00000340908.4_Missense_Mutation_p.S324L|WNK1_ENST00000315939.6_Missense_Mutation_p.S731L NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 889 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ACAGGGGTTTCATCTTCCCAA 0.433000 11 94 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34150077 34150077 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:34150077G>A ENST00000389232.4 + 99 14174 c.14104G>A c.(14104-14106)Gat>Aat p.D4702N RYR3_ENST00000415757.3_Missense_Mutation_p.D4697N NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4702 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAGCGAAGACGATGACGAGCC 0.587000 5 74 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20129301 20129301 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:20129301C>T ENST00000396085.1 + 37 7303 c.6942C>T c.(6940-6942)ctC>ctT p.L2314L NAV2_ENST00000311043.8_Silent_p.L1375L|NAV2_ENST00000360655.4_Silent_p.L2247L|NAV2_ENST00000533917.1_Silent_p.L1375L|NAV2_ENST00000540292.1_Silent_p.L2301L|NAV2_ENST00000396087.3_Silent_p.L2370L|NAV2_ENST00000527559.2_Silent_p.L2299L|NAV2_ENST00000349880.4_Silent_p.L2311L NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2370 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCCTATCTCCTGGAAGCCG 0.557000 50 247 0 0 1 0 0 PRAMEF22 653606 broad.mit.edu 37 1 13036556 13036556 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:13036556C>T ENST00000376187.1 + 2 628 c.628C>T c.(628-630)Caa>Taa p.Q210* PRAMEF6_ENST00000376192.5_Intron NM_001100631.1 NP_001094101.1 A3QJZ6 PRA22_HUMAN PRAME family member 22 210 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 AGACAGTATCCAAGTGTTGGA 0.413000 12 236 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6974991 6974991 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:6974991G>A ENST00000389658.3 - 46 6627 c.6534C>T c.(6532-6534)ttC>ttT p.F2178F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2178 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTCCCACAGGAAGGCCACTC 0.547000 6 57 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38743415 38743415 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:38743415G>A ENST00000449082.2 - 26 4571 c.4572C>T c.(4570-4572)gtC>gtT p.V1524V NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1524 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) ACATCTTCATGACACATTCGC 0.458000 57 112 0 0 1 0 0 SGCG 6445 broad.mit.edu 37 13 23853581 23853581 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:23853581G>A ENST00000218867.3 + 5 593 c.469G>A c.(469-471)Gaa>Aaa p.E157K SGCG_ENST00000545013.1_Missense_Mutation_p.E157K|SGCG_ENST00000537476.1_Missense_Mutation_p.E157K NM_000231.2 NP_000222.1 Q13326 SGCG_HUMAN sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 157 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) AGATGAGAAGGAAGTTGTGGT 0.393000 6 45 0 0 1 0 0 PAAF1 80227 broad.mit.edu 37 11 73638353 73638353 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:73638353C>T ENST00000544909.1 + 10 1385 c.1128C>T c.(1126-1128)atC>atT p.I376I PAAF1_ENST00000310571.3_Silent_p.I375I|PAAF1_ENST00000376384.5_Silent_p.I358I|PAAF1_ENST00000541951.1_Silent_p.I260I|PAAF1_ENST00000536003.1_Silent_p.I358I|PAAF1_ENST00000535604.1_Silent_p.I260I|PAAF1_ENST00000544552.1_Silent_p.I358I Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 375 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) AGAAGCAGATCTACACATGCT 0.458000 18 51 0 0 1 0 0 IL1F10 84639 broad.mit.edu 37 2 113832854 113832854 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:113832854C>T ENST00000393197.2 + 4 793 c.372C>T c.(370-372)ggC>ggT p.G124G IL1F10_ENST00000337569.3_Silent_p.G124G|IL1F10_ENST00000341010.2_Silent_p.G124G NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 124 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 TCCTGTGTGGCCCGGCAGAGC 0.597000 25 176 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184922295 184922295 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:184922295G>A ENST00000231887.3 - 6 894 c.819C>T c.(817-819)ttC>ttT p.F273F EHHADH_ENST00000456310.1_Silent_p.F177F NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 273 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TCCTTTCAGCGAAGAAAGCAT 0.498000 25 237 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51487113 51487113 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:51487113G>A ENST00000340438.4 + 1 633 c.391G>A c.(391-393)Gaa>Aaa p.E131K NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 131 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) CGTTACCATGGAACTTTCAGA 0.512000 7 37 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110424511 110424511 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:110424511G>A ENST00000378402.5 + 20 2207 c.2103G>A c.(2101-2103)ggG>ggA p.G701G NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 701 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTAACAGAGGGCAGAAGACAG 0.413000 HNSCC(38;0.096) 22 49 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50553632 50553632 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:50553632C>T ENST00000262794.5 + 8 1299 c.1216C>T c.(1216-1218)Cct>Tct p.P406S MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P406S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P406S|MOV10L1_ENST00000540615.1_Missense_Mutation_p.P386S NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 406 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GGGGCTTGTCCCTCCAGGGGG 0.478000 33 217 0 0 1 0 0 RMI1 80010 broad.mit.edu 37 9 86617584 86617584 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:86617584G>A ENST00000325875.3 + 3 2015 c.1683G>A c.(1681-1683)atG>atA p.M561I NM_024945.2 NP_079221.2 Q9H9A7 RMI1_HUMAN RecQ mediated genome instability 1 561 DNA replication nucleus biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 TACCAGAAATGAAACAGTCAA 0.373000 8 128 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480915 57480915 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:57480915G>A ENST00000371236.2 - 12 1348 c.1085C>T c.(1084-1086)cCg>cTg p.P362L DAB1_ENST00000439789.2_Missense_Mutation_p.P276L|DAB1_ENST00000414851.2_Missense_Mutation_p.P344L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.P395L|DAB1_ENST00000420954.2_Missense_Mutation_p.P360L|DAB1_ENST00000371234.4_Missense_Mutation_p.P362L O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 395 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GGCGGCTGGCGGAAACTGCCC 0.652000 58 73 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20331756 20331756 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:20331756C>T ENST00000302555.5 - 5 835 c.686G>A c.(685-687)aGg>aAg p.R229K GP2_ENST00000381360.5_Missense_Mutation_p.R85K|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Missense_Mutation_p.R232K|GP2_ENST00000341642.5_Missense_Mutation_p.R82K P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 232 EGF-like.|ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CTTGATCTCCCTGGGCCCACA 0.542000 10 45 0 0 1 0 0 POPDC3 64208 broad.mit.edu 37 6 105609425 105609425 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:105609425C>T ENST00000254765.3 - 2 638 c.360G>A c.(358-360)ggG>ggA p.G120G POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 120 integral to membrane NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) GCAAAGAGATCCCCAGGGGCT 0.443000 30 209 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7832450 7832450 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:7832450G>A ENST00000327325.5 + 6 1103 c.985G>A c.(985-987)Gga>Aga p.G329R CLEC4M_ENST00000359059.5_Missense_Mutation_p.G262R|CLEC4M_ENST00000394122.2_Missense_Mutation_p.G317R|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000595496.1_Missense_Mutation_p.G193R|CLEC4M_ENST00000334806.5_Missense_Mutation_p.G278R|CLEC4M_ENST00000248228.4_Missense_Mutation_p.G307R|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.G262R NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 329 C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CTCCTGGATGGGACTTTCAGA 0.547000 12 88 0 0 1 0 0 RHOF 54509 broad.mit.edu 37 12 122218799 122218799 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:122218799C>T ENST00000267205.2 - 4 1078 c.450G>A c.(448-450)ctG>ctA p.L150L TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_Intron NM_019034.2 NP_061907.2 Q9HBH0 RHOF_HUMAN ras homolog family member F (in filopodia) 150 actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity large_intestine(1)|lung(1)|ovary(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223) TGATGGGCTCCAGCTGGGCGG 0.662000 5 34 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43534472 43534472 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:43534472C>T ENST00000282041.5 - 2 930 c.896G>A c.(895-897)cGa>cAa p.R299Q NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 299 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CTTCCTACATCGTGAGTAGTT 0.428000 19 111 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29608132 29608132 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:29608132G>A ENST00000431530.3 + 2 2404 c.2346G>A c.(2344-2346)ttG>ttA p.L782L NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 772 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGCTAGGATTGGGTGCAATGT 0.502000 11 69 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068203 9068203 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:9068203C>T ENST00000397910.4 - 3 19446 c.19243G>A c.(19243-19245)Gaa>Aaa p.E6415K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6417 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 GTGGGCTTTTCAGTGCCTTGG 0.493000 38 150 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459659 142459659 + Missense_Mutation SNP G G A rs111033564 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:142459659G>A ENST00000486171.1 + 4 294 c.277G>A c.(277-279)Gaa>Aaa p.E93K PRSS1_ENST00000311737.7_Missense_Mutation_p.E79K P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 79 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GCACAACATCGAAGTCCTGGA 0.547000 159 261 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868872 97868872 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:97868872C>T ENST00000437310.1 + 1 703 c.643C>T c.(643-645)Ctt>Ttt p.L215F NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 AGGGACTGTTCTTATATCTTA 0.328000 22 48 0 0 1 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89247075 89247075 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:89247075G>A ENST00000496168.1 - 0 275 TGCAGACAGGGTGGAAGGAGA 0.463000 76 214 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145883392 145883392 + Missense_Mutation SNP A A C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:145883392A>C ENST00000296702.5 + 18 2591 c.2553A>C c.(2551-2553)ttA>ttC p.L851F TCERG1_ENST00000394421.2_Missense_Mutation_p.L830F|TCERG1_ENST00000509787.1_3'UTR NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 851 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TACAGAATTTAGACTCAGAAA 0.373000 16 88 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99313521 99313521 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:99313521C>T ENST00000336374.2 - 7 532 c.530G>A c.(529-531)gGg>gAg p.G177E NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 177 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) GCTGTAGGCCCCAAAGACGCT 0.463000 20 244 0 0 1 0 0 GPATCH2 55105 broad.mit.edu 37 1 217784272 217784272 + Nonsense_Mutation SNP A A C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:217784272A>C ENST00000366935.3 - 4 1087 c.977T>G c.(976-978)tTa>tGa p.L326* GPATCH2_ENST00000366934.3_Nonsense_Mutation_p.L326* NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 326 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) AGAACCAGTTAAGATACTTTC 0.453000 44 41 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222473 140222473 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:140222473C>T ENST00000531613.1 + 1 1567 c.1567C>T c.(1567-1569)Ctg>Ttg p.L523L PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.L523L|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCAGCCGCTGGACCACGA 0.677000 51 188 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059040 79059040 + Silent SNP A A G rs144043775 by1000genomes TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:79059040A>G ENST00000388820.4 - 19 3423 c.3213T>C c.(3211-3213)aaT>aaC p.N1071N NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071N(2)|p.N1071S(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCTCGTGGAAATTGATGAAAT 0.617000 7 60 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4854773 4854773 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:4854773G>A ENST00000252318.2 + 5 1376 c.1039G>A c.(1039-1041)Gat>Aat p.D347N NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 347 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TGATCTGCATGATGTCACTGC 0.468000 7 52 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254945 51254945 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:51254945C>T ENST00000404971.1 - 2 1806 c.467G>A c.(466-468)gGg>gAg p.G156E NRXN1_ENST00000406859.3_Missense_Mutation_p.G156E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G156E|NRXN1_ENST00000405581.1_Missense_Mutation_p.G156E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G156E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G156E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G156E NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 156 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGGCAGCCCCCCGACGAAAAG 0.662000 9 27 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89346526 89346526 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:89346526G>A ENST00000301030.4 - 9 6884 c.6424C>T c.(6424-6426)Ccc>Tcc p.P2142S ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2142S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2142 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GTCTGCAGGGGAAGCTCCGGC 0.662000 10 44 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27800117 27800117 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:27800117G>A ENST00000408964.2 + 1 729 c.678G>A c.(676-678)gaG>gaA p.E226E NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 226 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TAACTCCAGAGAAAAGCTACC 0.448000 38 88 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172634262 172634262 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:172634262G>A ENST00000351008.3 - 9 1531 c.1348C>T c.(1348-1350)Cct>Tct p.P450S NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 450 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GAGGATGCAGGAAAACTCCCC 0.473000 79 185 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5140227 5140227 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:5140227A>G ENST00000427587.4 - 6 668 c.600T>C c.(598-600)aaT>aaC p.N200N FAM86A_ENST00000587133.1_Silent_p.N139N|FAM86A_ENST00000458008.4_Silent_p.N166N NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 200 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 TGAGAAGGACATTCCCTCGGA 0.617000 33 78 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77907872 77907872 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:77907872A>T ENST00000355300.6 - 2 551 c.377T>A c.(376-378)cTc>cAc p.L126H LINGO1_ENST00000561030.1_Missense_Mutation_p.L120H NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 126 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GTTGCTGCGGAGACCCAGCGT 0.602000 7 48 0 0 1 0 0 OR4F6 390648 broad.mit.edu 37 15 102346709 102346709 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:102346709C>T ENST00000328882.4 + 1 808 c.787C>T c.(787-789)Ccc>Tcc p.P263S NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TTTTCCATTTCCCACATCACA 0.368000 22 100 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99681554 99681554 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:99681554G>A ENST00000393483.3 - 16 2096 c.1252C>T c.(1252-1254)Cga>Tga p.R418* TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R418*|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R418*|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R418* NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 418 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TTGGCTTTTCGAAGTTGTTCC 0.363000 28 110 0 0 1 0 0 HEYL 26508 broad.mit.edu 37 1 40092709 40092709 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:40092709G>A ENST00000372852.3 - 5 776 c.457C>T c.(457-459)Ctc>Ttc p.L153F HEYL_ENST00000535435.1_Missense_Mutation_p.L125F NM_014571.3 NP_055386.1 Q9NQ87 HEYL_HUMAN hes-related family bHLH transcription factor with YRPW motif-like 153 Orange. multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TAGCTGTTGAGGTGGGAGAGA 0.632000 47 47 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229636606 229636606 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:229636606G>A ENST00000261396.3 - 4 501 c.410C>T c.(409-411)tCc>tTc p.S137F NUP133_ENST00000366678.3_Missense_Mutation_p.S137F|NUP133_ENST00000366679.1_Missense_Mutation_p.S137F|NUP133_ENST00000537506.1_Missense_Mutation_p.S121F NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 137 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TTTGCAAACGGATAACTGTAG 0.408000 25 19 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45135121 45135121 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:45135121C>T ENST00000296129.1 - 6 1409 c.1275G>A c.(1273-1275)agG>agA p.R425R NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 425 CUB. extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AGTAGGATTTCCTTTGGCAGT 0.597000 29 248 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71894639 71894639 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:71894639C>T ENST00000258104.3 + 47 5611 c.5334C>T c.(5332-5334)atC>atT p.I1778I DYSF_ENST00000409582.3_Silent_p.I1816I|DYSF_ENST00000394120.2_Silent_p.I1779I|DYSF_ENST00000429174.2_Silent_p.I1799I|DYSF_ENST00000409366.1_Silent_p.I1800I|DYSF_ENST00000410041.1_Silent_p.I1796I|DYSF_ENST00000409651.1_Silent_p.I1810I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.I1817I|DYSF_ENST00000409762.1_Silent_p.I1795I|DYSF_ENST00000409744.1_Silent_p.I1786I|DYSF_ENST00000413539.2_Silent_p.I1809I NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1778 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 AGCCAGACATCGAGCAGGTAG 0.632000 29 38 0 0 1 0 0 RPS11P6 729258 broad.mit.edu 37 12 64790381 64790381 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:64790381G>A ENST00000535684.1 + 0 902 TACTGCTAAAGGAAACTGGCA 0.463000 3 11 0 0 1 0 0 MIOX 55586 broad.mit.edu 37 22 50926428 50926428 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:50926428C>T ENST00000395732.3 + 4 313 c.291C>T c.(289-291)ttC>ttT p.F97F MIOX_ENST00000216075.6_Silent_p.F97F|MIOX_ENST00000395733.3_Silent_p.F97F Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 97 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCAACTCCTTCCATGCCTTCC 0.627000 14 69 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73717425 73717425 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:73717425C>T ENST00000264448.6 + 10 8447 c.8336C>T c.(8335-8337)tCa>tTa p.S2779L ALMS1_ENST00000409009.1_Missense_Mutation_p.S2737L NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2779 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 CATAGTAATTCACAAGATAAA 0.348000 24 82 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 161969941 161969941 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:161969941G>A ENST00000366898.1 - 9 1130 c.1028C>T c.(1027-1029)cCg>cTg p.P343L PARK2_ENST00000366896.1_Missense_Mutation_p.P194L|PARK2_ENST00000366897.1_Missense_Mutation_p.P315L|PARK2_ENST00000366892.1_Missense_Mutation_p.P343L|PARK2_ENST00000338468.3_Missense_Mutation_p.P152L|PARK2_ENST00000366894.1_Missense_Mutation_p.P152L NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 343 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.P343Q(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GTCAGGCTCCGGCAGCAGCCC 0.637000 41 112 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44926878 44926878 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:44926878G>A ENST00000296125.4 + 2 149 c.81G>A c.(79-81)tgG>tgA p.W27* NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 27 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ACCACACATGGGAGTTCCAAA 0.537000 22 49 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17744403 17744403 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:17744403T>C ENST00000380060.3 + 6 2452 c.2114T>C c.(2113-2115)cTa>cCa p.L705P NHS_ENST00000398097.3_Missense_Mutation_p.L549P NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 705 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) TGGAATTACCTACACCACCAC 0.537000 21 215 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42222625 42222625 + Missense_Mutation SNP A A C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:42222625A>C ENST00000541110.1 - 13 3248 c.2680T>G c.(2680-2682)Tta>Gta p.L894V TRERF1_ENST00000340840.2_Missense_Mutation_p.L791V|TRERF1_ENST00000372917.4_Missense_Mutation_p.L791V|TRERF1_ENST00000372922.4_Missense_Mutation_p.L874V|TRERF1_ENST00000354325.2_Missense_Mutation_p.L791V Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 874 Interacts with CREBBP.|SANT. 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) TGACATTTTAACCTGACAGGC 0.522000 19 116 0 0 1 0 0 OR10Q1 219960 broad.mit.edu 37 11 57996058 57996058 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:57996058G>A ENST00000316770.2 - 1 332 c.290C>T c.(289-291)tCg>tTg p.S97L NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) TCCAGCCAACGAAATGGGCTT 0.522000 10 69 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815664 106815664 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:106815664G>A ENST00000407775.2 + 8 3604 c.3354G>A c.(3352-3354)ggG>ggA p.G1118G RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.G986G|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.G849G|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.G986G|RP11-152P17.2_ENST00000520433.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1118 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAACCAGTGGGAAATATTGCC 0.428000 14 34 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57649928 57649928 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:57649928G>A ENST00000269834.1 - 3 439 c.54C>T c.(52-54)acC>acT p.T18T NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 18 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACTCCCCCTGGGTGAAGTTCA 0.502000 32 99 0 0 1 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45706869 45706869 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:45706869C>T ENST00000305560.6 + 4 1634 c.1535C>T c.(1534-1536)aCc>aTc p.T512I SPATA5L1_ENST00000559860.1_Missense_Mutation_p.T512I NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 512 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) TGTGCTAAAACCACTCTGGTG 0.498000 20 84 0 0 1 0 0 TRAV5 28688 broad.mit.edu 37 14 22217771 22217771 + RNA SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:22217771T>C ENST00000390427.3 + 0 134 AGCTCCGTTATAAACTGCACT 0.448000 21 48 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59764351 59764351 + Missense_Mutation SNP C C T rs145034555 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:59764351C>T ENST00000361421.1 - 4 645 c.425G>A c.(424-426)cGa>cAa p.R142Q NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 142 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TTCTGGGTTTCGTATATCTGG 0.378000 16 117 0 0 1 0 0 TM7SF2 7108 broad.mit.edu 37 11 64880969 64880969 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:64880969C>T ENST00000279263.7 + 5 668 c.506C>T c.(505-507)cCg>cTg p.P169L TM7SF2_ENST00000540748.1_Missense_Mutation_p.P53L|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P169L|TM7SF2_ENST00000531029.1_Intron NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 169 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCAGGCAATCCGATTTACGAC 0.537000 OREG0021072 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 287 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1537489 1537489 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:1537489C>T ENST00000447419.2 - 2 649 c.624G>A c.(622-624)agG>agA p.R208R PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.R203R Q96A99 PTX4_HUMAN pentraxin 4, long 208 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 CCTGCCTGTCCCTCTGAAGCT 0.721000 5 24 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43058175 43058175 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:43058175C>T ENST00000316099.3 + 10 1384 c.1295C>T c.(1294-1296)aCc>aTc p.T432I HNF4A_ENST00000415691.1_Missense_Mutation_p.T422I|HNF4A_ENST00000457232.1_Missense_Mutation_p.T400I NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 432 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) ACCCCTGAGACCCCACAGCCC 0.612000 62 204 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 120387884 120387884 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:120387884G>A ENST00000331113.4 + 6 2830 c.1865G>A c.(1864-1866)gGa>gAa p.G622E RP4-797C5.2_ENST00000450480.1_RNA NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 622 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TACTCAGGAGGAAATATTGTC 0.423000 6 80 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25024079 25024079 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:25024079G>A ENST00000400382.1 + 14 2123 c.1368G>A c.(1366-1368)acG>acA p.T456T GGT1_ENST00000406383.2_Silent_p.T456T|GGT1_ENST00000400383.1_Silent_p.T456T|GGT1_ENST00000401885.1_Silent_p.T112T|GGT1_ENST00000404223.1_Silent_p.T112T|GGT1_ENST00000403838.1_Silent_p.T112T|GGT1_ENST00000404920.1_Silent_p.T112T|GGT1_ENST00000248923.4_Silent_p.T456T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Silent_p.T112T|GGT1_ENST00000400380.1_Silent_p.T456T P19440 GGT1_HUMAN gamma-glutamyltransferase 1 456 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TGTGCCCGACGATCATGGTGG 0.662000 17 104 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26719969 26719969 + Missense_Mutation SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:26719969A>G ENST00000396005.3 - 7 1244 c.935T>C c.(934-936)aTc>aCc p.I312T SLC5A12_ENST00000280467.6_Missense_Mutation_p.I312T NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 312 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TGGTGCTGAGATGATGCCAGA 0.473000 12 76 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92268655 92268655 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:92268655G>A ENST00000435962.2 - 4 735 c.412C>T c.(412-414)Cct>Tct p.P138S TC2N_ENST00000360594.5_Missense_Mutation_p.P138S|TC2N_ENST00000340892.5_Missense_Mutation_p.P138S|TC2N_ENST00000556018.1_Missense_Mutation_p.P138S NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 138 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CTCAAATCAGGTGAAATGTGC 0.428000 27 99 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101504229 101504229 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:101504229G>A ENST00000392979.3 + 22 2453 c.2092G>A c.(2092-2094)Gca>Aca p.A698T ANO4_ENST00000299222.9_Missense_Mutation_p.A253T|ANO4_ENST00000550015.1_Missense_Mutation_p.A253T|ANO4_ENST00000392977.3_Missense_Mutation_p.A733T NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 733 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 TTTTCCCCTAGCACCACTTCT 0.383000 HNSCC(74;0.22) 22 122 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10976793 10976793 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:10976793G>A ENST00000254488.2 + 13 1720 c.1654G>A c.(1654-1656)Ggc>Agc p.G552S NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 552 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) CTGGGGCTATGGCATTGGCTG 0.562000 29 185 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47405684 47405684 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:47405684C>T ENST00000295454.3 + 7 1083 c.791C>T c.(790-792)tCt>tTt p.S264F GABRB1_ENST00000538619.1_Missense_Mutation_p.S194F NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 264 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCCTGGGTGTCTTTTTGGATC 0.398000 17 59 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904019 5904019 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:5904019G>A ENST00000378961.4 + 4 1433 c.1229G>A c.(1228-1230)gGc>gAc p.G410D NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 410 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 GAAGAGAGGGGCCTTGAGCCG 0.522000 48 116 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10782298 10782298 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:10782298C>T ENST00000416569.2 - 2 833 c.807G>A c.(805-807)cgG>cgA p.R269R XKR6_ENST00000304437.2_5'UTR NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 269 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GGTGTTCCTTCCGCCGCTGGC 0.592000 21 104 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681119 100681119 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:100681119C>T ENST00000306151.4 + 3 6486 c.6422C>T c.(6421-6423)tCa>tTa p.S2141L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2141 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGTCAGTTCATCTCCTATA 0.502000 78 671 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36216413 36216413 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:36216413C>T ENST00000420124.1 + 12 3676 c.3676C>T c.(3676-3678)Cac>Tac p.H1226Y WBP7_ENST00000222270.7_Missense_Mutation_p.H1226Y|KMT2B_ENST00000607650.1_RNA TGACCCATTCCACCCATTCTG 0.607000 84 229 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74282185 74282185 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:74282185G>A ENST00000253577.3 - 14 1940 c.1916C>T c.(1915-1917)tCg>tTg p.S639L ABCB7_ENST00000339447.4_Missense_Mutation_p.S598L|ABCB7_ENST00000373394.3_Missense_Mutation_p.S638L NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 638 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 CGAATCTAACGATGAAGTAGC 0.353000 17 45 0 0 1 0 0 STEAP1 26872 broad.mit.edu 37 7 89790379 89790379 + Missense_Mutation SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:89790379C>A ENST00000297205.2 + 3 545 c.345C>A c.(343-345)aaC>aaA p.N115K STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 115 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) TGGTCATCAACAAAGTCTTGC 0.388000 14 135 1.3612e-06 1.3678e-06 1 1 0 TTN 7273 broad.mit.edu 37 2 179495831 179495831 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179495831C>T ENST00000589042.1 - 237 44168 c.43944G>A c.(43942-43944)ttG>ttA p.L14648L TTN_ENST00000342992.6_Silent_p.L12080L|TTN_ENST00000591111.1_Silent_p.L13007L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L5708L|TTN_ENST00000460472.2_Silent_p.L5583L|TTN_ENST00000342175.6_Silent_p.L5775L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13007 Ig-like 96. 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) TATCTGATTTCAAGGCTTTCT 0.403000 8 62 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28854959 28854959 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:28854959G>A ENST00000422425.2 + 54 3965 c.3921G>A c.(3919-3921)gcG>gcA p.A1307A PLB1_ENST00000541605.1_Silent_p.A283A|PLB1_ENST00000327757.5_Silent_p.A1318A NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1318 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) AGGACTTTGCGGTTGTGGTGC 0.547000 28 84 0 0 1 0 0 TMC8 147138 broad.mit.edu 37 17 76137122 76137122 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:76137122C>T ENST00000318430.5 + 16 2484 c.2110C>T c.(2110-2112)Cct>Tct p.P704S TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.P481S NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 704 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) ACTGCGTTCCCCTTGCCCTGG 0.756000 5 19 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8160934 8160934 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:8160934C>T ENST00000600128.1 - 45 5984 c.5570G>A c.(5569-5571)gGa>gAa p.G1857E FBN3_ENST00000601739.1_Missense_Mutation_p.G1857E|FBN3_ENST00000270509.2_Missense_Mutation_p.G1857E Q75N90 FBN3_HUMAN fibrillin 3 1857 EGF-like 29; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGTCCCATTTCCACAAGGCTG 0.572000 8 69 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54314064 54314064 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:54314064G>A ENST00000324134.6 - 3 1017 c.849C>T c.(847-849)atC>atT p.I283I NLRP12_ENST00000351894.4_Silent_p.I283I|NLRP12_ENST00000391772.1_Silent_p.I283I|NLRP12_ENST00000535162.1_Silent_p.I283I|NLRP12_ENST00000354278.3_Silent_p.I283I|NLRP12_ENST00000345770.5_Silent_p.I283I|NLRP12_ENST00000391773.1_Silent_p.I283I|NLRP12_ENST00000391775.3_Silent_p.I283I NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 283 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CGGGAACTCGGATGAGCTCCT 0.592000 11 54 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34647846 34647846 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:34647846G>A ENST00000537011.1 + 8 2019 c.1637G>A c.(1636-1638)gGg>gAg p.G546E NUTM1_ENST00000438749.3_Missense_Mutation_p.G536E|NUTM1_ENST00000333756.4_Missense_Mutation_p.G518E NUT midline carcinoma, family member 1 CAGGGGGCTGGGGGCGCCGCT 0.587000 40 114 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153924600 153924600 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:153924600G>A ENST00000368633.1 - 10 1018 c.891C>T c.(889-891)gcC>gcT p.A297A CRTC2_ENST00000368630.3_Intron NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 297 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCTAGGGTAGGCTGTCTCTT 0.627000 91 65 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506297 11506297 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:11506297C>T ENST00000500254.2 - 4 378 c.341G>A c.(340-342)gGa>gAa p.G114E PRB1_ENST00000546254.1_Missense_Mutation_p.G114E|PRB1_ENST00000545626.1_Intron NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 308 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTGTTGCCTCCTTGTGGGGG 0.612000 54 318 0 0 1 0 0 RPL13A 23521 broad.mit.edu 37 19 49994111 49994111 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:49994111C>T ENST00000391857.4 + 5 408 c.332C>T c.(331-333)cCc>cTc p.P111L RPL13A_ENST00000477613.2_3'UTR NM_001270491.1|NM_012423.3 NP_001257420.1|NP_036555.1 P40429 RL13A_HUMAN ribosomal protein L13a 111 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome cervix(1)|endometrium(1) 2 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) ATCCCACCGCCCTACGACAAG 0.572000 15 103 0 0 1 0 0 OR52N5 390075 broad.mit.edu 37 11 5799078 5799078 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:5799078G>A ENST00000317093.2 - 1 819 c.787C>T c.(787-789)Cca>Tca p.P263S TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 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) AAGAATGCTGGAACATAGGTG 0.488000 14 86 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120385305 120385305 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:120385305G>A ENST00000602047.1 + 17 1847 c.735G>A c.(733-735)aaG>aaA p.K245K PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Silent_p.K531K Q4G0U5 PCDP1_HUMAN 531 cilium calmodulin binding Colorectal(110;0.196) TGTCGCCCAAGGAGGTGCTGC 0.552000 65 166 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2613202 2613202 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:2613202G>A ENST00000397461.1 + 3 399 c.15G>A c.(13-15)tgG>tgA p.W5* CNTN4_ENST00000418658.1_Nonsense_Mutation_p.W5*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.W5* NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 5 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GGTTGCCATGGGAACTGCTGG 0.368000 20 53 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79357251 79357251 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:79357251C>T ENST00000370742.3 - 14 2031 c.1968G>A c.(1966-1968)caG>caA p.Q656Q NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 656 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TGAACATCCCCTGGAAAGCAT 0.408000 45 38 0 0 1 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169681154 169681154 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:169681154G>A ENST00000444448.2 + 5 600 c.124G>A c.(124-126)Gaa>Aaa p.E42K NOSTRIN_ENST00000397209.2_Intron|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E42K|NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000421711.2_Intron|NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E42K Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 42 FCH. endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 GGCAAACCTGGAAATTAGCTA 0.468000 12 79 0 0 1 0 0 CARD8 22900 broad.mit.edu 37 19 48733794 48733794 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:48733794G>A ENST00000391898.3 - 7 978 c.936C>T c.(934-936)tcC>tcT p.S312S CARD8_ENST00000521613.1_Silent_p.S262S|CARD8_ENST00000520153.1_Silent_p.S262S|CARD8_ENST00000359009.4_Silent_p.S206S|CARD8_ENST00000520753.1_Silent_p.S312S|CARD8_ENST00000519940.1_Silent_p.S312S|CARD8_ENST00000357778.5_Silent_p.S37S|CARD8_ENST00000520015.1_Silent_p.S312S|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Silent_p.S262S NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 206 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) TGATGGGGATGGAGAGGCGAG 0.552000 18 96 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923423 9923423 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:9923423G>A ENST00000396573.2 - 10 2173 c.1864C>T c.(1864-1866)Cct>Tct p.P622S GRIN2A_ENST00000535259.1_Missense_Mutation_p.P465S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P622S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P622S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P622S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P622S NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 622 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCCCTTTAGGATTCTGGACA 0.488000 39 74 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65456128 65456128 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:65456128G>A ENST00000330909.8 - 5 788 c.789C>T c.(787-789)ctC>ctT p.L263L MAGI1_ENST00000483466.1_Silent_p.L263L|MAGI1_ENST00000497477.2_Silent_p.L263L|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.L263L NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 263 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CTGTTTCTTGGAGAGTGTGCT 0.448000 14 118 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101359740 101359740 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:101359740G>A ENST00000344327.3 - 4 1645 c.1221C>T c.(1219-1221)ttC>ttT p.F407F TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Silent_p.F407F NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 407 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) GGACCACAAGGAACTTGACCG 0.478000 11 122 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79978253 79978253 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:79978253G>A ENST00000373275.4 - 17 1900 c.1684C>T c.(1684-1686)Cgt>Tgt p.R562C NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 562 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 ATAAGAGGACGATAATCCGTG 0.378000 24 120 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039038 11039038 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:11039038C>T ENST00000470054.1 - 0 1165 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) TTGTAGGAGTCATTTCAGAGT 0.378000 33 626 0 0 1 0 0 LINC00691 152024 broad.mit.edu 37 3 24138594 24138594 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:24138594G>A ENST00000436123.1 - 0 2129 GCCCCCAAGGGAAACCGTTGA 0.448000 5 36 0 0 1 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26238693 26238693 + RNA SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:26238693A>G ENST00000519902.1 - 0 1255 CCAATACAGTATGATTACAGG 0.378000 20 60 0 0 1 0 0 TTC13 79573 broad.mit.edu 37 1 231047264 231047264 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:231047264G>A ENST00000366661.4 - 20 2268 c.2261C>T c.(2260-2262)tCc>tTc p.S754F TTC13_ENST00000366662.4_Missense_Mutation_p.S700F|TTC13_ENST00000414259.1_Missense_Mutation_p.S701F NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 754 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) ATAAACTAAGGATAAGATTAA 0.289000 10 18 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47532368 47532368 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:47532368G>A ENST00000300527.4 + 3 695 c.591G>A c.(589-591)aaG>aaA p.K197K COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000357838.4_Silent_p.K197K|COL6A2_ENST00000310645.5_Silent_p.K197K|COL6A2_ENST00000397763.1_Silent_p.K197K|COL6A2_ENST00000409416.1_Silent_p.K197K NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 197 Nonhelical region.|VWFA 1. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AGAACCTGAAGGAGCAGGGCC 0.697000 5 33 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70319138 70319138 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:70319138C>T ENST00000338508.4 - 33 5388 c.5389G>A c.(5389-5391)Gaa>Aaa p.E1797K SHANK2_ENST00000423696.2_Missense_Mutation_p.E1417K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E1200K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E1201K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1417 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) TTTAGACTTTCCAGCCAATCG 0.483000 49 293 0 0 1 0 0 CCDC28A 25901 broad.mit.edu 37 6 139094905 139094905 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:139094905C>T ENST00000332797.6 + 1 249 c.94C>T c.(94-96)Cgt>Tgt p.R32C NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 32 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) ACGTCACTTCCGTAAACAAAC 0.637000 57 164 0 0 1 0 0 WFDC10B 280664 broad.mit.edu 37 20 44333576 44333576 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:44333576C>T ENST00000335769.2 - 1 82 c.55G>A c.(55-57)Gat>Aat p.D19N WFDC13_ENST00000305479.2_Intron|WFDC10B_ENST00000330523.5_5'UTR NM_172131.2 NP_742143.1 Q8IUB3 WF10B_HUMAN WAP four-disulfide core domain 10B 0 extracellular region peptidase inhibitor activity lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) TAACCAAAATCCCAAAGCAAA 0.507000 73 240 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130911458 130911458 + Silent SNP G G A rs13413763 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:130911458G>A ENST00000409031.1 - 17 2975 c.1827C>T c.(1825-1827)tcC>tcT p.S609S SMPD4_ENST00000431183.2_Silent_p.S507S|SMPD4_ENST00000443958.2_Silent_p.S273S|SMPD4_ENST00000426662.2_Silent_p.S245S|SMPD4_ENST00000452225.2_Silent_p.S350S|SMPD4_ENST00000453750.1_Silent_p.S358S|SMPD4_ENST00000339679.7_Silent_p.S467S|SMPD4_ENST00000351288.6_Silent_p.S580S NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 570 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) GGTCGGAGATGGACTTGGCTG 0.632000 11 70 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24805430 24805430 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:24805430G>A ENST00000216274.5 - 10 1726 c.1508C>T c.(1507-1509)cCt>cTt p.P503L RP11-934B9.3_ENST00000555591.1_Intron NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 503 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) CCAGGCTTCAGGATCTTTAGG 0.562000 35 85 0 0 1 0 0 EXT1 2131 broad.mit.edu 37 8 118817125 118817125 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:118817125G>A ENST00000378204.2 - 10 2697 c.1891C>T c.(1891-1893)Cac>Tac p.H631Y NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 631 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TATAGGTAGTGATAATATCTG 0.433000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 32 89 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73042039 73042039 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:73042039C>T ENST00000604411.1 + 0 30000 XIST_ENST00000429829.1_lincRNA NR_003255.2 AGTCATTTTTCATGAGGGATG 0.468000 14 33 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58109366 58109366 + Missense_Mutation SNP G G C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:58109366G>C ENST00000357272.4 + 21 3838 c.3673G>C c.(3673-3675)Gcc>Ccc p.A1225P FLNB_ENST00000348383.5_Missense_Mutation_p.A1225P|FLNB_ENST00000295956.4_Missense_Mutation_p.A1225P|FLNB_ENST00000419752.2_Missense_Mutation_p.A1056P|FLNB_ENST00000429972.2_Missense_Mutation_p.A1225P|FLNB_ENST00000493452.1_Missense_Mutation_p.A1056P|FLNB_ENST00000358537.3_Missense_Mutation_p.A1225P|FLNB_ENST00000490882.1_Missense_Mutation_p.A1225P O75369 FLNB_HUMAN filamin B, beta 1225 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGTGGAGCCCGCCGTGGACAC 0.517000 26 102 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230000 140230000 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:140230000G>A ENST00000378122.3 + 1 2644 c.1920G>A c.(1918-1920)acG>acA p.T640T PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.T640T|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACGAAACGGACGCACCGC 0.672000 18 91 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39921024 39921024 + Missense_Mutation SNP G G A rs76416187 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:39921024G>A ENST00000393931.3 - 7 1217 c.1099C>T c.(1099-1101)Cgc>Tgc p.R367C JUP_ENST00000393930.1_Missense_Mutation_p.R367C|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R367C NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 367 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) TGCACCAGGCGGGGGCTGTTG 0.652000 24 62 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36775284 36775284 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:36775284C>T ENST00000361475.2 - 6 867 c.694G>A c.(694-696)Gat>Aat p.D232N TGM2_ENST00000536724.1_Missense_Mutation_p.D172N|TGM2_ENST00000536701.1_Missense_Mutation_p.D151N NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 232 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CCCTGGTCATCGTTGCAGTTG 0.657000 20 39 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38591801 38591801 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:38591801C>T ENST00000222345.6 + 6 2473 c.1964C>T c.(1963-1965)tCc>tTc p.S655F NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 655 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GAGTTCCTCTCCCTCATCGGC 0.592000 4 11 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19653399 19653399 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:19653399C>T ENST00000284885.3 - 22 2659 c.2626G>A c.(2626-2628)Gac>Aac p.D876N NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 876 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ATGGCAATGTCGTTGTCCTTT 0.343000 28 187 0 0 1 0 0 MED17 9440 broad.mit.edu 37 11 93528227 93528227 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:93528227G>A ENST00000251871.3 + 6 1299 c.e6+1 MED17_ENST00000533367.1_Intron NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCCTTTCCGAGTAAGAGCAGC 0.428000 18 267 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166210777 166210777 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:166210777G>A ENST00000375437.2 + 17 3285 c.2995G>A c.(2995-2997)Gaa>Aaa p.E999K SCN2A_ENST00000375427.2_Missense_Mutation_p.E999K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E999K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E999K NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 999 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.E999K(1) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TGATGATAACGAAATGAATAA 0.388000 99 259 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108381927 108381927 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:108381927C>T ENST00000265843.4 - 6 4417 c.4307G>A c.(4306-4308)gGa>gAa p.G1436E EXPH5_ENST00000428840.1_Missense_Mutation_p.G1360E|EXPH5_ENST00000443411.1_Missense_Mutation_p.G1248E|EXPH5_ENST00000525344.1_Missense_Mutation_p.G1429E NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1436 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTGGGAATTTCCAATATTAAC 0.398000 13 118 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98353964 98353964 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:98353964G>A ENST00000264972.5 + 11 1533 c.1318G>A c.(1318-1320)Gag>Aag p.E440K ZAP70_ENST00000442208.1_Missense_Mutation_p.E314K|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E133K NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 440 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 CAATGTGGCCGAGCTGCTGCA 0.617000 5 75 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89209516 89209516 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:89209516C>T ENST00000286614.6 - 2 433 c.152G>A c.(151-153)gGc>gAc p.G51D MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 51 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TGGAAGGTAGCCGTACTTTTG 0.398000 6 72 0 0 1 0 0 MMGT1 93380 broad.mit.edu 37 X 135047232 135047232 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:135047232G>A ENST00000305963.2 - 4 734 c.347C>T c.(346-348)tCc>tTc p.S116F MMGT1_ENST00000433339.2_Missense_Mutation_p.S181F NM_173470.1 NP_775741.1 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 116 early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane magnesium ion transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1) 3 TGTGTTAGAGGACAATGCATC 0.378000 50 308 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:79059041T>C ENST00000388820.4 - 19 3422 c.3212A>G c.(3211-3213)aAt>aGt p.N1071S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071S(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTCGTGGAAATTGATGAAATT 0.617000 6 59 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56663245 56663245 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:56663245C>T ENST00000389934.3 - 18 3104 c.2987G>A c.(2986-2988)gGa>gAa p.G996E TEX14_ENST00000240361.8_Missense_Mutation_p.G1002E|TEX14_ENST00000349033.5_Missense_Mutation_p.G996E NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1002 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTTGCCATTTCCTCTGGGCTC 0.532000 52 130 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920414 4920414 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:4920414G>A ENST00000433855.1 + 1 2073 c.1207G>A c.(1207-1209)Gat>Aat p.D403N KCNA6_ENST00000280684.3_Missense_Mutation_p.D403N NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 403 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TGACGATGACGATTCGCTTTT 0.572000 HNSCC(72;0.22) 58 93 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886368 57886368 + Silent SNP G G A rs138832584 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:57886368G>A ENST00000302610.1 - 1 548 c.549C>T c.(547-549)ccC>ccT p.P183P OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P183P(1) endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GCTTCAGCAGGGGTGGGAGGT 0.483000 22 45 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241208 3241208 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:3241208C>T ENST00000217939.6 - 5 2672 c.2518G>A c.(2518-2520)Gaa>Aaa p.E840K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 840 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) GCTGAGGATTCTTCAGCACTG 0.488000 44 102 0 0 1 0 0 UBE2J2 118424 broad.mit.edu 37 1 1192649 1192649 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:1192649G>A ENST00000347370.2 - 4 531 c.58C>T c.(58-60)Cct>Tct p.P20S UBE2J2_ENST00000360466.2_Missense_Mutation_p.P72S|UBE2J2_ENST00000348298.7_Missense_Mutation_p.P20S|UBE2J2_ENST00000349431.6_Missense_Mutation_p.P72S|UBE2J2_ENST00000400929.2_Missense_Mutation_p.P20S|UBE2J2_ENST00000400930.4_Missense_Mutation_p.P88S|UBE2J2_ENST00000339385.6_Missense_Mutation_p.P37S|UBE2J2_ENST00000491779.1_5'UTR NM_194458.1 NP_919440.1 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 72 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) GGTTTGAAAGGAAATTCTCTG 0.507000 20 36 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114248386 114248386 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:114248386G>A ENST00000371936.1 - 6 716 c.467C>T c.(466-468)tCt>tTt p.S156F IL13RA2_ENST00000243213.1_Missense_Mutation_p.S156F Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 156 Fibronectin type-III 2. extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 AGGTTTCCAAGAACAGAGTAA 0.313000 12 51 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123509272 123509272 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:123509272C>T ENST00000223026.4 + 3 1583 c.945C>T c.(943-945)ttC>ttT p.F315F HYAL4_ENST00000476325.1_Silent_p.F315F NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 315 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 CTTTATTTTTCCTTTCTAAGG 0.378000 5 55 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138698587 138698587 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:138698587C>T ENST00000520602.1 - 12 1510 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K MCF2_ENST00000338585.6_Missense_Mutation_p.E349K|MCF2_ENST00000536274.1_Missense_Mutation_p.E310K|MCF2_ENST00000519895.1_Missense_Mutation_p.E409K|MCF2_ENST00000414978.1_Missense_Mutation_p.E409K|MCF2_ENST00000370573.4_Missense_Mutation_p.E349K|MCF2_ENST00000370576.4_Missense_Mutation_p.E349K|MCF2_ENST00000370578.4_Missense_Mutation_p.E494K P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 349 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTATCTATTTCCTGATTAGCT 0.323000 13 79 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890553 55890553 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:55890553G>A ENST00000313472.3 + 1 705 c.705G>A c.(703-705)caG>caA p.Q235Q NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) CAGGAAAGCAGAAAGCTTTCT 0.413000 36 115 0 0 1 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117959787 117959787 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:117959787G>A ENST00000310164.2 + 4 1087 c.580G>A c.(580-582)Gat>Aat p.D194N NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 CAGACTTAAGGATTTTCTCAG 0.483000 17 163 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66989088 66989088 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:66989088C>T ENST00000276570.5 + 4 600 c.313C>T c.(313-315)Ctg>Ttg p.L105L DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 105 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) CTACTTCATGCTGTCGAGCTG 0.433000 45 124 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141274532 141274532 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:141274532C>T ENST00000389484.3 - 50 9046 c.8075G>A c.(8074-8076)gGa>gAa p.G2692E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2692 LDL-receptor class A 15. 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) AATGCATCTTCCACTAGGACA 0.328000 TSP Lung(27;0.18) 14 54 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150840152 150840152 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:150840152C>T ENST00000370357.4 + 13 1583 c.1338C>T c.(1336-1338)ctC>ctT p.L446L NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 446 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AGCGGCCTCTCCCACATCCCA 0.498000 63 114 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171554388 171554388 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:171554388G>A ENST00000176763.5 - 3 702 c.359C>T c.(358-360)gCc>gTc p.A120V NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 120 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGCATGATGGCGTCCACGGC 0.562000 5 33 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36103547 36103547 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:36103547G>A ENST00000378660.1 + 5 721 c.533G>A c.(532-534)gGa>gAa p.G178E CHDC2_ENST00000313548.4_Missense_Mutation_p.G178E calponin homology domain containing 2 CATTTGAGTGGAAAAATGCCA 0.378000 33 84 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2541145 2541145 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:2541145C>T ENST00000288709.6 - 5 631 c.391G>A c.(391-393)Gac>Aac p.D131N MMEL1_ENST00000502556.1_Missense_Mutation_p.D140N|MMEL1_ENST00000378412.3_Missense_Mutation_p.D140N NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 140 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CGGAGGACGTCAAAGATGCTG 0.632000 40 53 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826956 46826956 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:46826956G>A ENST00000283296.7 - 17 2972 c.2684C>T c.(2683-2685)tCg>tTg p.S895L GPR116_ENST00000265417.7_Missense_Mutation_p.S895L|GPR116_ENST00000362015.4_Missense_Mutation_p.S895L|GPR116_ENST00000545669.1_Missense_Mutation_p.S324L|GPR116_ENST00000456426.2_Missense_Mutation_p.S753L NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 895 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S895L(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GACAATAGACGAATCCGACTG 0.458000 21 140 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350096 100350096 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:100350096C>T ENST00000542585.1 + 0 2516 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCACCATTCCCACAGAAAA 0.527000 17 183 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14095134 14095134 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:14095134G>A ENST00000382080.1 - 4 1106 c.391C>T c.(391-393)Cac>Tac p.H131Y SGCZ_ENST00000421524.2_Missense_Mutation_p.H84Y NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 118 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TGCCCCATGTGATTTCTTGCA 0.383000 150 502 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934508 113934508 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:113934508C>T ENST00000335953.4 + 2 866 c.486C>T c.(484-486)tcC>tcT p.S162S ZBTB16_ENST00000392996.2_Silent_p.S162S NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 162 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CGAAGCATTCCAGCGAGGAGA 0.587000 12 115 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725946 140725946 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:140725946G>A ENST00000253812.6 + 1 2346 c.2346G>A c.(2344-2346)caG>caA p.Q782Q PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATCAGCCAGGAGAGCTGTG 0.493000 36 174 0 0 1 0 0 LACRT 90070 broad.mit.edu 37 12 55025540 55025540 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:55025540C>T ENST00000257867.4 - 4 390 c.337G>A c.(337-339)Gga>Aga p.G113R LACRT_ENST00000547511.1_Missense_Mutation_p.G102R NM_033277.1 NP_150593.1 Q9GZZ8 LACRT_HUMAN lacritin 113 calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion extracellular region|stored secretory granule collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1) 10 AATTGTTTTCCACCTGGCACG 0.473000 28 236 0 0 1 0 0 C3orf17 25871 broad.mit.edu 37 3 112738393 112738393 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:112738393G>A ENST00000314400.5 - 1 293 c.102C>T c.(100-102)gcC>gcT p.A34A RP11-572M11.4_ENST00000496389.1_RNA|C3orf17_ENST00000383675.2_Silent_p.A34A|RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA|RP11-572M11.4_ENST00000460707.1_RNA|C3orf17_ENST00000393857.2_5'UTR NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 34 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 ACTCACCAAGGGCCGCGCCGG 0.721000 6 24 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431595 135431595 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:135431595G>A ENST00000394143.1 + 6 6021 c.5730G>A c.(5728-5730)gaG>gaA p.E1910E GPR112_ENST00000412101.1_Silent_p.E1705E|GPR112_ENST00000287534.4_Silent_p.E1847E|GPR112_ENST00000394141.1_Silent_p.E1705E|GPR112_ENST00000370652.1_Silent_p.E1910E NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1910 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGGAAACAGAGACTCTACACC 0.433000 37 195 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43689011 43689011 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:43689011C>T ENST00000404580.1 - 2 441 c.353G>A c.(352-354)gGa>gAa p.G118E PSG5_ENST00000599812.1_Missense_Mutation_p.G118E|PSG5_ENST00000407356.1_Missense_Mutation_p.G118E|PSG5_ENST00000407568.1_Missense_Mutation_p.G118E|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000342951.6_Missense_Mutation_p.G118E|PSG5_ENST00000366175.3_Missense_Mutation_p.G118E Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 118 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGTGTAGGATCCTGCGTCTTC 0.448000 92 507 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516175 140516175 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:140516175G>A ENST00000231134.5 + 1 1376 c.1159G>A c.(1159-1161)Gat>Aat p.D387N NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 387 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATCCAGAATGATCTCCCCTT 0.478000 17 78 0 0 1 0 0 HSDL1 83693 broad.mit.edu 37 16 84164717 84164717 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:84164717G>A ENST00000219439.4 - 3 386 c.210C>T c.(208-210)gcC>gcT p.A70A HSDL1_ENST00000434463.3_Silent_p.A70A NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 70 Required for mitochondria translocation. mitochondrion oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 CGCTGACAACGGCCCATCTTC 0.433000 51 136 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22170023 22170023 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:22170023G>A ENST00000397126.4 - 3 369 c.221C>T c.(220-222)tCc>tTc p.S74F ZNF208_ENST00000601773.1_Missense_Mutation_p.S74F|ZNF208_ENST00000599916.1_Missense_Mutation_p.S74F|ZNF208_ENST00000597040.1_Missense_Mutation_p.S42F 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) CCTACCTGGGGATTCTTCCAC 0.438000 8 57 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582534 55582534 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:55582534T>C ENST00000361849.3 - 34 5352 c.4958A>G c.(4957-4959)gAa>gGa p.E1653G PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1628G|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1611G|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1651G|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1648G|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1582G NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1651 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) TTTCAACTGTTCTGTTCCTTC 0.408000 HNSCC(58;0.16) 29 116 0 0 1 0 0 ZNF530 348327 broad.mit.edu 37 19 58118649 58118649 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:58118649C>T ENST00000332854.6 + 3 1976 c.1756C>T c.(1756-1758)Caa>Taa p.Q586* ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ATCCTTTAGCCAAAGCTCTGG 0.383000 13 112 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94471041 94471041 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:94471041G>A ENST00000370225.3 - 44 6189 c.6103C>T c.(6103-6105)Ctt>Ttt p.L2035F ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.L305F|ABCA4_ENST00000535881.1_Missense_Mutation_p.L154F NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2035 ABC transporter 2. L -> P (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CGGGCATAAAGGTAAAGATGT 0.413000 84 94 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42814487 42814487 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:42814487C>T ENST00000499536.2 + 2 1477 c.666C>T c.(664-666)gtC>gtT p.V222V PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Silent_p.V222V A6NJB7 PRR19_HUMAN proline rich 19 222 NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) CTGATCAAGTCCCAGAGCAGG 0.562000 22 104 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123887086 123887086 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:123887086G>A ENST00000320891.4 + 1 805 c.805G>A c.(805-807)Gga>Aga p.G269R NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TGCCATGGATGGAGTTGTGGC 0.493000 12 130 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994619 140994619 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:140994619C>T ENST00000285879.4 + 4 1715 c.1429C>T c.(1429-1431)Cct>Tct p.P477S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 477 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCCCAGTCTCCTCTCCAGAT 0.473000 HNSCC(15;0.026) 51 353 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70805905 70805905 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:70805905G>A ENST00000358731.4 + 17 3249 c.2986G>A c.(2986-2988)Gaa>Aaa p.E996K BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 996 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) ATCCCCAAGGGAAAATGGCCC 0.463000 22 87 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182374525 182374525 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:182374525G>A ENST00000397033.2 + 16 2266 c.1836G>A c.(1834-1836)atG>atA p.M612I NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 612 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AAGACATAATGAAAAAAACAG 0.328000 17 67 0 0 1 0 0 OTUB1 55611 broad.mit.edu 37 11 63756099 63756099 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:63756099G>A ENST00000543004.1 + 3 132 c.120_splice c.e3-1 p.D41_splice OTUB1_ENST00000428192.2_Intron|OTUB1_ENST00000536443.1_Intron|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000538426.1_Intron|OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000543988.1_Intron|OTUB1_ENST00000422031.2_Intron Q96FW1 OTUB1_HUMAN OTU domain, ubiquitin aldehyde binding 1 40 protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 TCCCTGCTAGGACATGACAGA 0.552000 24 112 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1475206 1475206 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:1475206C>T ENST00000331035.4 + 7 1058 c.709C>T c.(709-711)Cgc>Tgc p.R237C IL3RA_ENST00000381469.2_Missense_Mutation_p.R159C NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 237 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TCGCAAATTTCGCTATGAGCT 0.463000 21 100 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31371384 31371384 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:31371384C>T ENST00000268296.4 + 7 826 c.705C>T c.(703-705)gtC>gtT p.V235V ITGAX_ENST00000562522.1_Silent_p.V235V NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 235 VWFA. 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 TCCAAAATGTCGTGTGAGTCC 0.552000 23 98 0 0 1 0 0 SLC52A1 55065 broad.mit.edu 37 17 4937852 4937852 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:4937852G>A ENST00000512825.2 - 2 1461 c.50C>T c.(49-51)gCc>gTc p.A17V SLC52A1_ENST00000254853.5_Missense_Mutation_p.A17V|SLC52A1_ENST00000424747.1_Missense_Mutation_p.A17V Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 17 integral to plasma membrane receptor activity|riboflavin transporter activity GCCAAAAAGGGCCACCAGCAG 0.627000 35 65 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169586524 169586524 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:169586524C>T ENST00000263686.6 - 3 260 c.223G>A c.(223-225)Gaa>Aaa p.E75K SELP_ENST00000367786.2_Missense_Mutation_p.E75K|SELP_ENST00000367794.2_Missense_Mutation_p.E75K|SELP_ENST00000367793.2_Missense_Mutation_p.E75K|SELP_ENST00000458599.2_Missense_Mutation_p.E75K|SELP_ENST00000367788.2_Missense_Mutation_p.E75K|SELP_ENST00000367792.2_Missense_Mutation_p.E75K|SELP_ENST00000367791.2_Missense_Mutation_p.E75K NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 75 C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TAATCAATTTCATTTTTATTC 0.403000 159 124 0 0 1 0 0 TUBB3 10381 broad.mit.edu 37 16 90001640 90001640 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:90001640C>T ENST00000304984.5 + 3 2860 c.565C>T c.(565-567)Ccg>Tcg p.P189S TUBB3_ENST00000315491.7_Missense_Mutation_p.P261S|TUBB3_ENST00000556922.1_Missense_Mutation_p.P608S|TUBB3_ENST00000554444.1_Missense_Mutation_p.P189S|TUBB3_ENST00000555576.1_Intron Q13509 TBB3_HUMAN tubulin, beta 3 class III 261 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GGTGCCCTTCCCGCGCCTGCA 0.677000 13 67 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127518608 127518608 + Missense_Mutation SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:127518608A>G ENST00000262461.2 + 24 3463 c.3274A>G c.(3274-3276)Atc>Gtc p.I1092V SLC12A2_ENST00000343225.4_Missense_Mutation_p.I1076V|SLC12A2_ENST00000507791.1_3'UTR NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 1092 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCTAGGAGATATCAATACCAA 0.323000 3 20 0 0 1 0 0 PTPN5 84867 broad.mit.edu 37 11 18751011 18751011 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:18751011G>A ENST00000396170.1 - 14 2761 c.1497C>T c.(1495-1497)ctC>ctT p.L499L PTPN5_ENST00000396171.4_Silent_p.L531L|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_Silent_p.L335L|PTPN5_ENST00000396168.1_Silent_p.L507L|PTPN5_ENST00000396166.3_Silent_p.L137L|PTPN5_ENST00000396167.2_Silent_p.L499L|PTPN5_ENST00000358540.2_Silent_p.L531L NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 531 Substrate binding.|Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 TGTCCTGACGGAGCTGGCACG 0.662000 10 25 0 0 1 0 0 CDC20B 166979 broad.mit.edu 37 5 54416373 54416373 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:54416373C>T ENST00000296733.1 - 10 1395 c.1221G>A c.(1219-1221)atG>atA p.M407I CDC20B_ENST00000381375.2_Missense_Mutation_p.M407I|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Intron NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 407 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) GACACCAATCCATGGCCTTTA 0.488000 15 82 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906348 5906348 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:5906348C>T ENST00000316987.2 + 1 848 c.826C>T c.(826-828)Ctt>Ttt p.L276F NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATCCATATTCTTTTGGCTAA 0.408000 44 89 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028887 37028887 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:37028887G>A ENST00000358047.3 + 1 2456 c.2404G>A c.(2404-2406)Gag>Aag p.E802K NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 802 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCTGGAGCCTCCCAA 0.592000 28 81 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78506102 78506102 + Missense_Mutation SNP G G T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:78506102G>T ENST00000545128.1 + 1 543 c.5G>T c.(4-6)gGc>gTc p.G2V PCSK5_ENST00000376752.4_Missense_Mutation_p.G2V|PCSK5_ENST00000376767.3_Missense_Mutation_p.G2V NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 2 G -> D (in Ref. 1; AAC50643). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GGGACCATGGGCTGGGGGAGC 0.726000 11 17 3.86212e-05 3.87457e-05 1 1 0 DDX60L 91351 broad.mit.edu 37 4 169337870 169337870 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:169337870G>A ENST00000511577.1 - 20 2936 c.2689C>T c.(2689-2691)Ctt>Ttt p.L897F DDX60L_ENST00000505890.1_Missense_Mutation_p.L897F|DDX60L_ENST00000260184.7_Missense_Mutation_p.L897F Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 897 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GTAGCTGAAAGAACCAAAAAG 0.348000 12 86 0 0 1 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22315350 22315350 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:22315350G>A ENST00000390434.3 + 0 513 TCCACCTGACGAAACCCTCAG 0.512000 18 105 0 0 1 0 0 RNASE4 6038 broad.mit.edu 37 14 21167970 21167970 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:21167970G>A ENST00000555835.1 + 2 1116 c.440G>A c.(439-441)gGt>gAt p.G147D AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.G147D|RNASE4_ENST00000304704.4_Missense_Mutation_p.G147D|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Missense_Mutation_p.G147D NM_002937.3 NP_002928.1 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 147 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) CACTTTGACGGTTAGATGCCA 0.512000 50 122 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510893 48510893 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:48510893G>A ENST00000446524.1 + 1 625 c.549G>A c.(547-549)ttG>ttA p.L183L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 ATCCCTTATTGAAACTGGTCT 0.433000 68 154 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133779602 133779602 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:133779602C>T ENST00000372338.4 - 7 1477 c.1235G>A c.(1234-1236)cGc>cAc p.R412H FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.R412H|FIBCD1_ENST00000372337.2_Missense_Mutation_p.R254H NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 412 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GTGGCAGTTGCGGTACCACCA 0.632000 21 105 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110778625 110778625 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:110778625C>T ENST00000395494.2 + 13 2405 c.1842C>T c.(1840-1842)ttC>ttT p.F614F ATP2A2_ENST00000539276.2_Silent_p.F641F|ATP2A2_ENST00000308664.6_Silent_p.F641F P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 641 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TCGGCATCTTCGGGCAGGATG 0.612000 10 77 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117175431 117175431 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:117175431C>T ENST00000003084.6 + 6 841 c.709C>T c.(709-711)Cag>Tag p.Q237* CFTR_ENST00000454343.1_Nonsense_Mutation_p.Q237* NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 237 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGCCCTTTTTCAGGCTGGGCT 0.433000 Cystic Fibrosis 19 211 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22396376 22396376 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:22396376C>T ENST00000263160.3 + 9 1554 c.1117C>T c.(1117-1119)Cta>Tta p.L373L NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 373 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TGCAGATTTTCTAAGAAGCAA 0.388000 62 178 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80874951 80874951 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:80874951C>T ENST00000466387.1 + 22 3396 c.2672C>T c.(2671-2673)tCg>tTg p.S891L CTNNA2_ENST00000402739.4_Missense_Mutation_p.S939L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S891L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S925L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S891L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S846L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S570L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 939 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AAACACATTTCGCCTGTACAG 0.403000 59 223 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136290691 136290691 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:136290691C>T ENST00000371929.3 + 4 817 c.373C>T c.(373-375)Cgg>Tgg p.R125W ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_Missense_Mutation_p.R125W|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R125W|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R125W|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.R125W NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 125 Peptidase M12B. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding p.R125W(1) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGCTCAGTTTCGGGTGCACCT 0.607000 8 21 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133053841 133053841 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:133053841C>T ENST00000262283.5 - 8 962 c.863G>A c.(862-864)cGa>cAa p.R288Q OC90_ENST00000443356.2_Missense_Mutation_p.R92Q|OC90_ENST00000603859.1_Missense_Mutation_p.R92Q|OC90_ENST00000254627.3_Missense_Mutation_p.R92Q Q02509 OC90_HUMAN otoconin 90 92 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TTCAAAGTCTCGGGGGCAGAG 0.527000 9 55 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41570923 41570923 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:41570923C>T ENST00000262415.3 + 7 1046 c.974C>T c.(973-975)tCc>tTc p.S325F DHX8_ENST00000540306.1_Missense_Mutation_p.S325F NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 325 S1 motif. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AAAGTGCTGTCCTTCACTGGG 0.552000 50 95 0 0 1 0 0 SLC47A2 146802 broad.mit.edu 37 17 19617251 19617251 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:19617251C>T ENST00000350657.5 - 4 504 c.330G>A c.(328-330)gtG>gtA p.V110V SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Silent_p.V110V NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 110 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) GCTGCAGGATCACGCCCACGT 0.662000 22 46 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104075208 104075208 + Silent SNP G G A rs145880799 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:104075208G>A ENST00000374874.3 + 6 1204 c.765G>A c.(763-765)tcG>tcA p.S255S LPPR1_ENST00000395056.2_Silent_p.S255S NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 255 integral to membrane catalytic activity ACCACTGCTCGGACGTGATTG 0.552000 23 162 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86831120 86831120 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:86831120A>T ENST00000237455.4 - 4 2872 c.1904T>A c.(1903-1905)aTg>aAg p.M635K RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 635 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 AGGCAACCCCATTAGCAAACA 0.448000 55 220 0 0 1 0 0 AADACL2-AS1 101928142 broad.mit.edu 37 3 151502007 151502007 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:151502007C>T ENST00000483843.2 - 0 439 RP11-64D22.2_ENST00000483636.1_RNA|RP11-454C18.2_ENST00000475855.1_RNA CATGGTTTACCCCTGTCCTAT 0.433000 8 19 0 0 1 0 0 BIRC7 79444 broad.mit.edu 37 20 61870954 61870954 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:61870954C>T ENST00000217169.3 + 6 1108 c.894C>T c.(892-894)tcC>tcT p.S298S BIRC7_ENST00000342412.6_Silent_p.S280S|BIRC7_ENST00000395306.1_Silent_p.S193S NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 298 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) CCTTCCTGTCCTAGGCCAGGT 0.731000 7 16 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40864494 40864494 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:40864494G>A ENST00000428826.2 - 12 1335 c.1214C>T c.(1213-1215)tCt>tTt p.S405F EZH1_ENST00000590078.1_Missense_Mutation_p.S335F|EZH1_ENST00000585893.1_Missense_Mutation_p.S365F|EZH1_ENST00000415827.2_Missense_Mutation_p.S396F|EZH1_ENST00000435174.1_Missense_Mutation_p.S266F|EZH1_ENST00000592743.1_Missense_Mutation_p.S405F Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 405 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CTGACAGCGAGAGTTAGCCTC 0.483000 20 103 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753560 13753560 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:13753560C>T ENST00000265104.4 - 63 10758 c.10654G>A c.(10654-10656)Gcc>Acc p.A3552T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3552 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) ATTTTCCGGGCTTTCATTTCC 0.408000 Kartagener syndrome 36 106 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7565729 7565729 + Silent SNP C C T rs148395326 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:7565729C>T ENST00000379802.3 + 7 1256 c.915C>T c.(913-915)atC>atT p.I305I DSP_ENST00000418664.2_Silent_p.I305I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 305 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. I -> F (in dbSNP:rs17604693). cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACACCAACATCGCTCAGAAAC 0.547000 36 49 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 947051 947051 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:947051C>T ENST00000264771.4 + 8 721 c.536C>T c.(535-537)gCt>gTt p.A179V TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Missense_Mutation_p.A63V|TMEM175_ENST00000508204.1_Missense_Mutation_p.A97V NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 179 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCCCACAGGGCTCTGTACCGA 0.612000 10 34 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54444813 54444813 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:54444813C>T ENST00000391767.1 + 5 726 c.514C>T c.(514-516)Cat>Tat p.H172Y CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.H172Y|CACNG7_ENST00000222212.2_Missense_Mutation_p.H172Y P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 172 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) GCAGTATTTTCATTATCGCTA 0.532000 23 116 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37907434 37907434 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:37907434G>A ENST00000199447.4 + 11 1124 c.752G>A c.(751-753)cGa>cAa p.R251Q EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R251Q NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 251 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity CCTAACGAACGATCTGAGGAT 0.443000 9 63 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81701244 81701244 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:81701244C>T ENST00000372292.3 - 6 617 c.577G>A c.(577-579)Gga>Aga p.G193R NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 193 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) CCTGGACTTCCCTGGGGACCC 0.507000 25 60 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7809012 7809012 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:7809012C>T ENST00000315599.7 - 6 1016 c.994G>A c.(994-996)Ggc>Agc p.G332S CD209_ENST00000301357.8_Missense_Mutation_p.G196S|CD209_ENST00000593821.1_Missense_Mutation_p.G196S|CD209_ENST00000354397.6_Missense_Mutation_p.G326S|CD209_ENST00000593660.1_Missense_Mutation_p.G262S|CD209_ENST00000394161.5_Missense_Mutation_p.G96S|CD209_ENST00000602261.1_Missense_Mutation_p.G240S|CD209_ENST00000315591.8_Missense_Mutation_p.G308S|CD209_ENST00000601951.1_Missense_Mutation_p.G308S|CD209_ENST00000394173.4_Missense_Mutation_p.G171S|CD209_ENST00000601256.1_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.G288S NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 332 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGAGGTGAGCCGTCCACCCAT 0.537000 18 111 0 0 1 0 0 IL2RG 3561 broad.mit.edu 37 X 70329108 70329108 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:70329108G>A ENST00000374202.2 - 5 818 c.727C>T c.(727-729)Cca>Tca p.P243S IL2RG_ENST00000374188.3_Missense_Mutation_p.P4L|IL2RG_ENST00000456850.2_Missense_Mutation_p.P53S NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 243 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) CAGTGGATTGGGTGGCTCCAT 0.522000 Severe Combined Immunodeficiency, X-linked 15 93 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78359585 78359585 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:78359585C>T ENST00000255189.3 - 2 155 c.127G>A c.(127-129)Gaa>Aaa p.E43K DMGDH_ENST00000540686.1_5'UTR|DMGDH_ENST00000380311.4_5'UTR|DMGDH_ENST00000520388.1_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 43 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CATTGTGTTTCTGCAGATAAG 0.458000 12 81 0 0 1 0 0 SYT7 9066 broad.mit.edu 37 11 61291907 61291907 + Silent SNP G G A rs144339707 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:61291907G>A ENST00000263846.4 - 6 1047 c.720C>T c.(718-720)atC>atT p.I240I SYT7_ENST00000539008.1_Silent_p.I523I|SYT7_ENST00000542670.1_Silent_p.I448I|SYT7_ENST00000540677.1_Silent_p.I315I|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Silent_p.I359I|SYT7_ENST00000542836.1_Silent_p.I284I NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 240 cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGTTAAGGGGGATGGACACCT 0.567000 11 41 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161292770 161292770 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:161292770C>T ENST00000428797.2 + 5 586 c.231C>T c.(229-231)ttC>ttT p.F77F GABRA1_ENST00000437025.2_Silent_p.F77F|GABRA1_ENST00000023897.6_Silent_p.F77F|GABRA1_ENST00000393943.4_Silent_p.F77F|GABRA1_ENST00000420560.1_Silent_p.F77F|GABRA1_ENST00000444819.1_Silent_p.F77F NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 77 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TCACCAGTTTCGGACCCGTTT 0.378000 34 132 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235891 3235891 + Missense_Mutation SNP G G A rs137882293 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:3235891G>A ENST00000217939.6 - 6 5985 c.5831C>T c.(5830-5832)tCg>tTg p.S1944L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1944 Ig-like C2-type 3. 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) CACGGTGACCGAAAGCAAGAC 0.552000 17 85 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25327838 25327838 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:25327838C>T ENST00000546682.1 + 0 174 SNHG14_ENST00000549804.2_RNA NR_003361.1 GTGGTGTGGGCTTCTTCAGGT 0.488000 8 70 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500616 90500616 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:90500616C>T ENST00000325643.5 + 4 1280 c.1214C>T c.(1213-1215)cCc>cTc p.P405L NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 ACCCTAAATCCCTTCTGGAAC 0.562000 13 91 0 0 1 0 0 PER1 5187 broad.mit.edu 37 17 8049363 8049363 + Nonsense_Mutation SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:8049363T>A ENST00000317276.4 - 17 2368 c.2131A>T c.(2131-2133)Aag>Tag p.K711* PER1_ENST00000354903.5_Nonsense_Mutation_p.K695*|PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Nonsense_Mutation_p.K691* NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 711 CSNK1E binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTCCGCCTTATTGGCCAGG 0.652000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 12 84 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46807518 46807518 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:46807518T>C ENST00000262738.3 - 6 4749 c.4750A>G c.(4750-4752)Act>Gct p.T1584A NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1584 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCGGTCTGAGTGCCCTGGGCA 0.632000 16 60 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102300677 102300677 + RNA SNP C C G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:102300677C>G ENST00000561463.1 + 0 8723 AACCTGCAGACACTTGTGGAG 0.582000 5 50 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39377300 39377300 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:39377300C>T ENST00000545653.1 - 11 2056 c.1526G>A c.(1525-1527)gGa>gAa p.G509E DAB2_ENST00000509337.1_Missense_Mutation_p.G509E|DAB2_ENST00000339788.6_Missense_Mutation_p.G312E|DAB2_ENST00000320816.6_Missense_Mutation_p.G530E NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 530 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CATCATGGCTCCCGGAGCCAT 0.517000 18 93 0 0 1 0 0 TBATA 219793 broad.mit.edu 37 10 72541687 72541687 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:72541687G>A ENST00000299290.1 - 4 536 c.147C>T c.(145-147)ttC>ttT p.F49F TBATA_ENST00000456372.2_Silent_p.F49F|TBATA_ENST00000545575.1_Silent_p.F39F NM_152710.2 NP_689923.2 thymus, brain and testes associated GGATCCGCTCGAAATCCACAA 0.602000 37 63 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10427852 10427852 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:10427852C>T ENST00000245503.5 - 35 5490 c.5106G>A c.(5104-5106)gaG>gaA p.E1702E CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.E1702E NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1702 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 TTCTGCTCCTCTCTGTCTGTT 0.577000 20 127 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143090789 143090789 + Missense_Mutation SNP G G T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:143090789G>T ENST00000367603.2 - 5 5829 c.5087C>A c.(5086-5088)tCc>tAc p.S1696Y HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1696Y|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1696Y NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1696 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TTTTTGCTTGGACCTCAGAAG 0.463000 41 124 6.33695e-27 6.42468e-27 1 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140735963 140735963 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:140735963G>A ENST00000571252.1 + 1 1196 c.1196G>A c.(1195-1197)gGa>gAa p.G399E PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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) aagaCCTATGGAAATTATTAT 0.433000 3 10 0 0 1 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170364 107170364 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:107170364C>T ENST00000390633.2 - 0 64 CAGGTCCAGTCCATGGTGATG 0.493000 7 115 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538490 55538490 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:55538490C>T ENST00000220676.1 + 4 2196 c.2048C>T c.(2047-2049)tCc>tTc p.S683F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 683 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) GCAATAAATTCCAGGTATCAA 0.338000 10 53 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941353 13941353 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:13941353G>A ENST00000254323.2 + 13 2648 c.2459G>A c.(2458-2460)cGg>cAg p.R820Q ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R654Q NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 820 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CTGCCGCTCCGGGCCTACAAG 0.701000 13 89 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66410003 66410003 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:66410003G>A ENST00000404260.3 + 12 1864 c.1556G>A c.(1555-1557)aGg>aAg p.R519K MAST4_ENST00000403625.2_Missense_Mutation_p.R516K|MAST4_ENST00000405643.1_Missense_Mutation_p.R337K|MAST4_ENST00000403666.1_Missense_Mutation_p.R327K|MAST4_ENST00000261569.7_Missense_Mutation_p.R322K|MAST4_ENST00000490016.2_Missense_Mutation_p.R327K O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 519 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) GACATTCCCAGGTACATCATT 0.468000 5 38 0 0 1 0 0 ARAF 369 broad.mit.edu 37 X 47426737 47426737 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:47426737C>T ENST00000377045.4 + 10 1176 c.982C>T c.(982-984)Cgg>Tgg p.R328W ARAF_ENST00000290277.6_3'UTR NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 328 Protein kinase. intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) GTTTCGAGGGCGGTGGCATGG 0.617000 5 39 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39577662 39577662 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:39577662C>T ENST00000225550.3 - 6 1197 c.1198G>A c.(1198-1200)Gag>Aag p.E400K AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 400 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) GTGGCAATCTCGTTCTCCAAC 0.557000 14 79 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24448053 24448053 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:24448053C>T ENST00000270800.1 - 7 1005 c.967G>A c.(967-969)Gag>Aag p.E323K NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 323 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TAGGTGATCTCGGACAGGCTA 0.642000 6 106 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126242614 126242614 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:126242614T>C ENST00000394329.3 + 1 5061 c.5048T>C c.(5047-5049)aTt>aCt p.I1683T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1683 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTCTTTACTATTGGACGACAT 0.448000 31 208 0 0 1 0 0 CYP26A1 1592 broad.mit.edu 37 10 94836372 94836372 + Silent SNP G G C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:94836372G>C ENST00000371531.1 + 6 1242 c.864G>C c.(862-864)ggG>ggC p.G288G CYP26A1_ENST00000224356.4_Silent_p.G357G|CYP26A1_ENST00000394139.1_Silent_p.G288G NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 357 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) AATACATCGGGTGTGTTATTA 0.393000 20 83 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51749081 51749081 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:51749081C>T ENST00000395052.3 + 4 1526 c.1292C>T c.(1291-1293)cCc>cTc p.P431L GRM2_ENST00000442933.2_Missense_Mutation_p.P431L|GRM2_ENST00000475478.1_3'UTR NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 431 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) ATCCTAGCCCCCTTTCGCCCA 0.542000 14 72 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86807734 86807734 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:86807734C>T ENST00000441037.2 + 10 1289 c.1194C>T c.(1192-1194)tcC>tcT p.S398S AGBL1_ENST00000421325.2_Silent_p.S398S|AGBL1_ENST00000389298.3_Silent_p.S129S NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 398 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATGTGCAATCCAATAGTCTCA 0.483000 16 86 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753443 13753443 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:13753443C>T ENST00000265104.4 - 63 10875 c.10771G>A c.(10771-10773)Gga>Aga p.G3591R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3591 AAA 5 (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) ACAATAATTCCATTTTGAATG 0.388000 Kartagener syndrome 21 99 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50779774 50779774 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:50779774C>T ENST00000404971.1 - 10 3169 c.1830G>A c.(1828-1830)gtG>gtA p.V610V NRXN1_ENST00000406859.3_Silent_p.V570V|NRXN1_ENST00000402717.3_Silent_p.V562V|NRXN1_ENST00000406316.2_Silent_p.V570V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.V562V|NRXN1_ENST00000401669.2_Silent_p.V570V NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 570 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTCCATCATTCACTTTCTTCA 0.458000 47 128 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11216267 11216267 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:11216267G>A ENST00000558518.1 + 4 872 c.685G>A c.(685-687)Gaa>Aaa p.E229K LDLR_ENST00000558013.1_Missense_Mutation_p.E229K|LDLR_ENST00000535915.1_Missense_Mutation_p.E188K|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.E229K NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 229 LDL-receptor class A 5. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) ATCTGACGAGGAAAACTGCGG 0.637000 4 51 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41691585 41691585 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:41691585C>T ENST00000313860.7 + 25 3110 c.3056C>T c.(3055-3057)cCt>cTt p.P1019L LIMCH1_ENST00000396595.3_Missense_Mutation_p.P838L|LIMCH1_ENST00000512820.1_Missense_Mutation_p.P1005L|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P993L|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P852L|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P992L|LIMCH1_ENST00000512632.1_Missense_Mutation_p.P916L|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P846L|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P1403L|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P833L|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P826L|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P833L NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 1019 LIM zinc-binding. 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 TGTGGGCTTCCTTTGGGTAAA 0.403000 17 84 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 865586 865586 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:865586G>A ENST00000323510.4 - 12 1347 c.1348C>T c.(1348-1350)Ccg>Tcg p.P450S BRD9_ENST00000467963.1_Missense_Mutation_p.P546S|BRD9_ENST00000483173.1_Missense_Mutation_p.P493S|BRD9_ENST00000388890.4_Missense_Mutation_p.P430S Q9H8M2 BRD9_HUMAN bromodomain containing 9 546 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TTGGACGACGGCCGAGAGCCG 0.657000 12 97 0 0 1 0 0 KRTAP12-3 386683 broad.mit.edu 37 21 46078148 46078148 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:46078148C>T ENST00000397907.1 + 1 300 c.252C>T c.(250-252)ctC>ctT p.L84L TSPEAR_ENST00000323084.4_Intron NM_198697.2 NP_941970.2 P60328 KR123_HUMAN keratin associated protein 12-3 84 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCACTGCCCTCTGCAGACCCA 0.617000 8 88 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128182008 128182008 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:128182008G>A ENST00000469083.1 - 2 2638 c.81C>T c.(79-81)gcC>gcT p.A27A DNAJB8_ENST00000319153.3_Silent_p.A27A Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 27 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) GCCAACGAAGGGCCAGCTTGC 0.577000 32 245 0 0 1 0 0 IKZF4 64375 broad.mit.edu 37 12 56428411 56428411 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:56428411G>A ENST00000262032.5 + 12 1421 c.1054G>A c.(1054-1056)Ggc>Agc p.G352S RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.G352S|IKZF4_ENST00000431367.2_Missense_Mutation_p.G250S|IKZF4_ENST00000547791.1_Missense_Mutation_p.G307S Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 352 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GAACTCGGGTGGCTATGAAAA 0.567000 19 159 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088237 9088237 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:9088237G>A ENST00000397910.4 - 1 3781 c.3578C>T c.(3577-3579)cCc>cTc p.P1193L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1193 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 AGGTAAGTTGGGCATGTTCCA 0.473000 41 180 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234113039 234113039 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:234113039C>T ENST00000359570.5 + 28 3207 c.3207C>T c.(3205-3207)ccC>ccT p.1069_1069insP INPP5D_ENST00000455936.2_Missense_Mutation_p.833_833insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.833_833insP Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 0 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGCCCGCGCCCCGGCTGCGCT 0.726000 4 33 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47746065 47746065 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:47746065G>A ENST00000360380.3 - 13 2428 c.2065C>T c.(2065-2067)Cct>Tct p.P689S STIL_ENST00000243182.6_Missense_Mutation_p.P689S|STIL_ENST00000371877.3_Missense_Mutation_p.P689S|STIL_ENST00000337817.5_Missense_Mutation_p.P689S|STIL_ENST00000396221.2_Missense_Mutation_p.P689S Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 689 PIN1-binding (By similarity). 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) ATATGTGAAGGCGGTCTTGCC 0.483000 71 94 0 0 1 0 0 TFF1 7031 broad.mit.edu 37 21 43786558 43786558 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:43786558G>A ENST00000291527.2 - 1 145 c.47C>T c.(46-48)tCc>tTc p.S16F NM_003225.2 NP_003216.1 P04155 TFF1_HUMAN trefoil factor 1 16 carbohydrate metabolic process|response to estradiol stimulus growth factor activity cervix(1)|lung(1) 2 GGCCAGCATGGACACCAGGAC 0.662000 5 42 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687133 158687133 + Missense_Mutation SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:158687133T>A ENST00000368146.1 - 1 820 c.821A>T c.(820-822)tAc>tTc p.Y274F OR6K3_ENST00000368145.1_Missense_Mutation_p.Y258F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) GAAACGCAAGTACATGAGTGA 0.458000 89 82 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 399219 399219 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:399219G>A ENST00000432829.2 + 26 3306 c.2990G>A c.(2989-2991)cGg>cAg p.R997Q DOCK8_ENST00000382331.1_Missense_Mutation_p.R367Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1065Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.R965Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.R532Q NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1065 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CTCATGGATCGGGGCTTTGTG 0.478000 12 73 0 0 1 0 0 FAM199X 139231 broad.mit.edu 37 X 103431143 103431143 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:103431143G>A ENST00000493442.1 + 4 736 c.570G>A c.(568-570)gtG>gtA p.V190V FAM199X_ENST00000299906.5_3'UTR NM_207318.3 NP_997201.1 Q6PEV8 F199X_HUMAN family with sequence similarity 199, X-linked 190 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 TCACATAGGTGGAATATATTG 0.343000 16 75 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115346520 115346520 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:115346520G>A ENST00000357872.4 + 14 2300 c.2176G>A c.(2176-2178)Gtc>Atc p.V726I NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 726 proteolysis integral to membrane metallopeptidase activity|zinc ion binding ATGGCATACAGTCTTGGTAAA 0.303000 3 23 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53581619 53581619 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:53581619C>T ENST00000342160.3 - 60 8926 c.8469G>A c.(8467-8469)atG>atA p.M2823I HUWE1_ENST00000262854.6_Missense_Mutation_p.M2823I Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2823 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GGGATAACTCCATCTGAGTTG 0.488000 14 71 0 0 1 0 0 ZNF776 284309 broad.mit.edu 37 19 58265022 58265022 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:58265022C>T ENST00000317178.5 + 3 787 c.524C>T c.(523-525)tCc>tTc p.S175F NM_173632.3 NP_775903.3 zinc finger protein 776 cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) GACTTTTTGTCCAGCTTGAGA 0.398000 36 82 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20622698 20622698 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:20622698G>A ENST00000525748.1 + 2 300 c.27G>A c.(25-27)atG>atA p.M9I NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 9 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) CCAAGGAAATGAATAAACTGC 0.567000 6 10 0 0 1 0 0 MYL1 4632 broad.mit.edu 37 2 211163268 211163268 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:211163268G>A ENST00000352451.3 - 3 327 c.180C>T c.(178-180)ctC>ctT p.L60L MYL1_ENST00000341685.4_Silent_p.L16L|MYL1_ENST00000496436.1_5'UTR NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 60 EF-hand 1. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) TGTCAAACAGGAGAAATGCCT 0.423000 24 77 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541374 55541374 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:55541374G>A ENST00000361760.1 + 1 461 c.461G>A c.(460-462)gGg>gAg p.G154E NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TATACATGGGGGATAGTGTGC 0.403000 42 199 0 0 1 0 0 MRPL44 65080 broad.mit.edu 37 2 224822295 224822295 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:224822295C>T ENST00000258383.3 + 1 175 c.106C>T c.(106-108)Cgc>Tgc p.R36C NM_022915.3 NP_075066.1 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 36 RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) GAAGGGATTCCGCGCCGCCTT 0.682000 19 46 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68216503 68216503 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:68216503C>T ENST00000294304.7 + 23 4919 c.4813C>T c.(4813-4815)Ccg>Tcg p.P1605S LRP5_ENST00000529481.1_3'UTR NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1605 Pro-rich. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCATCTCTTCCCGCCCCCTCC 0.622000 8 60 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823896 70823896 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:70823896G>A ENST00000373695.1 + 7 1306 c.769G>A c.(769-771)Gac>Aac p.D257N ACRC_ENST00000373696.3_Missense_Mutation_p.D257N Q96QF7 ACRC_HUMAN acidic repeat containing 257 Asp/Ser-rich. nucleus p.D257N(1) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) AGCTCCCGACGACAGCAGTGA 0.557000 12 228 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55032689 55032689 + Missense_Mutation SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:55032689T>C ENST00000417545.2 + 2 444 c.358T>C c.(358-360)Tgt>Cgt p.C120R NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 104 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GAAGATGTTCTGTGAAGTGGA 0.537000 17 97 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87040235 87040235 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:87040235G>A ENST00000370563.3 + 10 1522 c.1480G>A c.(1480-1482)Gga>Aga p.G494R RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 494 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CGAAAGTAAGGGATTAACACT 0.358000 37 45 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112520 248112520 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:248112520C>T ENST00000357191.3 + 1 361 c.361C>T c.(361-363)Cgt>Tgt p.R121C OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R121C(2)|p.R121S(1) 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) GGCCTATGATCGTTACATTGC 0.443000 66 197 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752448 62752448 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:62752448G>A ENST00000331425.6 - 0 987 NR_003952.1 GTCTAGTAAGGTTTGAGGACC 0.443000 8 47 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44945382 44945382 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:44945382C>T ENST00000296125.4 + 9 1046 c.978C>T c.(976-978)ttC>ttT p.F326F NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 326 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.F326L(1) NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GCAGGAATTTCCATGTGTGGA 0.592000 41 166 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122756609 122756609 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:122756609C>T ENST00000245838.8 - 30 3816 c.3785_splice c.e30+1 p.S1262_splice THOC2_ENST00000491737.1_Splice_Site_p.S1147_splice|THOC2_ENST00000355725.4_Splice_Site_p.S1262_splice NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1262 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GTGTTCCTACCTGTTAGAGCC 0.383000 10 46 0 0 1 0 0 YTHDC1 91746 broad.mit.edu 37 4 69185919 69185919 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:69185919G>A ENST00000344157.4 - 12 1941 c.1606C>T c.(1606-1608)Cga>Tga p.R536* YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.R518*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.R536* NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 536 Arg-rich. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 TCTTCTGGTCGACGCCTACAC 0.363000 14 51 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20598128 20598128 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:20598128C>T ENST00000504154.1 + 32 3663 c.3411C>T c.(3409-3411)atC>atT p.I1137I SLIT2_ENST00000273739.5_Silent_p.I1150I|SLIT2_ENST00000503837.1_Silent_p.I1133I|SLIT2_ENST00000503823.1_Silent_p.I1129I NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1137 EGF-like 6. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTCAGTGTATCGTCAGAATAA 0.408000 17 88 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81657121 81657121 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:81657121G>A ENST00000550584.2 - 30 3899 c.3604C>T c.(3604-3606)Cct>Tct p.P1202S PPFIA2_ENST00000407050.4_Missense_Mutation_p.P1101S|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P1202S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P1187S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P1196S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P1097S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P1190S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P1049S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P738S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P1181S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P388S NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 1101 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TCACGAGGAGGAAACTGCCTT 0.438000 19 44 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42490331 42490331 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:42490331G>A ENST00000545399.1 - 5 600 c.447C>T c.(445-447)ttC>ttT p.F149F ATP1A3_ENST00000543770.1_Silent_p.F147F|ATP1A3_ENST00000602133.1_Silent_p.F106F|ATP1A3_ENST00000302102.5_Silent_p.F136F NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 136 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GGTAGTAGGAGAAGCAGCCAG 0.612000 28 78 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 994623 994623 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:994623C>T ENST00000537687.1 + 19 6076 c.5433C>T c.(5431-5433)tcC>tcT p.S1811S WNK1_ENST00000535572.1_Silent_p.S1304S|WNK1_ENST00000530271.2_Silent_p.S2049S|WNK1_ENST00000340908.4_Silent_p.S1144S|WNK1_ENST00000315939.6_Silent_p.S1551S NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1551 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTTCCTCTTCCTCTCCTGGAG 0.478000 79 550 0 0 1 0 0 ZNF790 388536 broad.mit.edu 37 19 37309706 37309706 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:37309706C>T ENST00000356725.4 - 5 1660 c.1540G>A c.(1540-1542)Gcc>Acc p.A514T CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CAGAGAAAGGCTTTTCCACAT 0.403000 39 104 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18688115 18688115 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:18688115C>T ENST00000406451.3 + 11 1417 c.1267C>T c.(1267-1269)Ccc>Tcc p.P423S HDAC9_ENST00000441542.2_Missense_Mutation_p.P426S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P410S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P346S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P423S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P382S|HDAC9_ENST00000456174.2_Missense_Mutation_p.P395S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P421S|HDAC9_ENST00000405010.3_Missense_Mutation_p.P423S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P379S NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 423 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TCCTCAGTCTCCCTTGGCAAC 0.448000 39 96 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155505313 155505313 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:155505313G>A ENST00000302053.3 - 6 2642 c.2564C>T c.(2563-2565)gCt>gTt p.A855V NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 855 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CATGCGAACAGCCCTGAGGGA 0.478000 21 165 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27772685 27772685 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:27772685C>T ENST00000333743.6 + 8 1226 c.972C>T c.(970-972)ttC>ttT p.F324F RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 324 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CCGTGTGCTTCCTGTTTGTCT 0.557000 7 52 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10355450 10355450 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:10355450C>T ENST00000255381.2 - 27 3656 c.3546G>A c.(3544-3546)ctG>ctA p.L1182L CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1182 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGGACTCTTCCAGGTCCCTGC 0.577000 31 208 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167675200 167675200 + Missense_Mutation SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:167675200T>A ENST00000519204.1 + 26 7011 c.6893T>A c.(6892-6894)cTg>cAg p.L2298Q TENM2_ENST00000518659.1_Missense_Mutation_p.L2419Q|TENM2_ENST00000520394.1_Missense_Mutation_p.L2180Q|TENM2_ENST00000403607.2_Missense_Mutation_p.L2243Q|TENM2_ENST00000545108.1_Missense_Mutation_p.L2418Q teneurin transmembrane protein 2 TATGACCCCCTGACCAAGCTG 0.532000 22 99 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32845063 32845063 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:32845063C>T ENST00000311921.3 + 2 1519 c.1327C>T c.(1327-1329)Cgt>Tgt p.R443C ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.R443C|ZNF507_ENST00000544431.1_Missense_Mutation_p.R443C NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TGATGTTTATCGTGCTGATAA 0.448000 23 151 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53077734 53077734 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:53077734C>T ENST00000276480.7 - 12 1939 c.1256G>A c.(1255-1257)gGa>gAa p.G419E NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 419 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ATGACCCCTTCCTGTGCATCC 0.408000 35 205 0 0 1 0 0 F11R 50848 broad.mit.edu 37 1 160970470 160970470 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:160970470C>T ENST00000368026.6 - 4 613 c.339G>A c.(337-339)gaG>gaA p.E113E F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 113 Ig-like V-type 1. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) TGCCGCCTTCCTCAGAGACCA 0.532000 52 70 0 0 1 0 0 MMP26 56547 broad.mit.edu 37 11 5010961 5010961 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:5010961C>T ENST00000380390.1 + 3 399 c.183C>T c.(181-183)ttC>ttT p.F61F MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Silent_p.F61F Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 61 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) TGCAACAATTCCATCGGAATG 0.522000 5 35 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141590103 141590103 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:141590103C>T ENST00000442267.2 - 9 1630 c.1556G>A c.(1555-1557)aGc>aAc p.S519N NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 519 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CCCACGCATGCTCTCCGGGAT 0.607000 9 43 0 0 1 0 0 BSPRY 54836 broad.mit.edu 37 9 116116603 116116603 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:116116603G>A ENST00000374183.4 + 2 324 c.285G>A c.(283-285)aaG>aaA p.K95K BSPRY_ENST00000462085.1_3'UTR NM_017688.2 NP_060158.2 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 95 calcium ion transport cytoplasm|membrane zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TGCCGGGGAAGAATCAAAGAG 0.522000 6 45 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572699 38572699 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:38572699C>T ENST00000222345.6 + 3 1003 c.494C>T c.(493-495)cCc>cTc p.P165L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 165 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCCTTCCTCCCCCTTCGGCAC 0.716000 21 70 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45017003 45017003 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:45017003C>T ENST00000454753.1 - 0 1715 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) CTGTTGTTTTCCTTGAGGGCC 0.527000 OREG0025538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 15 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909164 123909164 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:123909164G>A ENST00000330487.5 - 1 553 c.545C>T c.(544-546)cCc>cTc p.P182L NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 182 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) TTTCAGGATGGGCGGTGCGTC 0.537000 51 417 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89869877 89869877 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:89869877G>A ENST00000268124.5 - 9 2011 c.1678C>T c.(1678-1680)Ccc>Tcc p.P560S POLG_ENST00000442287.2_Missense_Mutation_p.P560S NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 560 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) GGCCGCTTGGGCAGGAGCTCT 0.622000 DNA polymerases (catalytic subunits) 33 62 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71077943 71077943 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:71077943C>T ENST00000283228.2 - 10 1913 c.1461G>A c.(1459-1461)gtG>gtA p.V487V PTPRR_ENST00000440835.2_Silent_p.V242V|PTPRR_ENST00000342084.4_Silent_p.V375V|PTPRR_ENST00000378778.1_Silent_p.V281V|PTPRR_ENST00000549308.1_Silent_p.V242V NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 487 Tyrosine-protein phosphatase. in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TCATAACAATCACAGGGCTGT 0.423000 23 77 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378521 114378521 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:114378521G>A ENST00000312719.5 - 5 2129 c.941C>T c.(940-942)cCa>cTa p.P314L RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.P314L Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 314 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GTCCACCTCTGGATGAATGCG 0.413000 26 117 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129833587 129833587 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:129833587G>A ENST00000421865.2 + 63 8986 c.8937G>A c.(8935-8937)ggG>ggA p.G2979G NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2979 Laminin G-like 5. 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) TTCTTCTGGGGATCAGTAGTC 0.363000 22 135 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52534395 52534395 + Silent SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:52534395T>A ENST00000261839.7 - 20 2567 c.2406A>T c.(2404-2406)gcA>gcT p.A802A MYO5C_ENST00000443683.2_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 802 IQ 2. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TTAAGGCCACTGCAGTAATAG 0.478000 51 366 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151155688 151155688 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:151155688C>T ENST00000282466.3 - 6 6660 c.6661G>A c.(6661-6663)Gat>Aat p.D2221N IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2221 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGGTGTCATCCCCACTGGGA 0.423000 58 178 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110980706 110980706 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:110980706G>A ENST00000524391.1 - 4 2146 c.1114C>T c.(1114-1116)Cct>Tct p.P372S KCNV1_ENST00000297404.1_Missense_Mutation_p.P372S Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 372 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GTTGTGTCAGGAATGCTTTGC 0.478000 28 85 0 0 1 0 0 FGF6 2251 broad.mit.edu 37 12 4554514 4554514 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:4554514C>T ENST00000228837.2 - 1 266 c.223G>A c.(223-225)Gaa>Aaa p.E75K NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 75 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) TAGCCACTTTCCCAGTTCACC 0.657000 13 132 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021839 132021839 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:132021839G>A ENST00000356920.5 + 15 2905 c.2811G>A c.(2809-2811)gaG>gaA p.E937E POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 937 Actin-like. ATP binding CCTCCCTAGAGAAGAGCTACG 0.617000 42 239 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145093099 145093099 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:145093099C>T ENST00000367545.3 + 58 8552 c.8552C>T c.(8551-8553)tCc>tTc p.S2851F UTRN_ENST00000367526.4_Missense_Mutation_p.S406F NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2851 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTCTTTCAATCCCTTGGTAAG 0.269000 12 99 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541229 178541229 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:178541229G>A ENST00000251582.7 - 22 3376 c.3275C>T c.(3274-3276)tCc>tTc p.S1092F NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1092 PLAC. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CAGGTTACAGGACTTGCAGCA 0.542000 13 40 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56418155 56418155 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:56418155G>A ENST00000370754.5 - 61 15341 c.15342C>T c.(15340-15342)acC>acT p.T5114T DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.T4936T|DST_ENST00000421834.2_Silent_p.T2848T|DST_ENST00000446842.2_Silent_p.T4610T|DST_ENST00000361203.3_Silent_p.T4934T|DST_ENST00000244364.6_Silent_p.T2522T|DST_ENST00000370788.2_Silent_p.T2848T Q03001 DYST_HUMAN dystonin 4934 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATCCCAATTGGTTTTAATTG 0.333000 18 121 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898966 36898966 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:36898966G>A ENST00000301807.6 - 12 2362 c.465C>T c.(463-465)ttC>ttT p.F155F TRANK1_ENST00000429976.2_Silent_p.F705F|TRANK1_ENST00000428977.2_Silent_p.F155F NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 705 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 AGTCCTCTGGGAAAGACGGAT 0.562000 28 55 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15734858 15734858 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:15734858G>A ENST00000441682.2 + 0 1130 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CTGCCGGCAGGAGGTGCAAGA 0.582000 20 61 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188223985 188223985 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:188223985G>A ENST00000409998.1 - 12 1577 c.796C>T c.(796-798)Cct>Tct p.P266S CALCRL_ENST00000392370.3_Missense_Mutation_p.P266S|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.P266S Q16602 CALRL_HUMAN calcitonin receptor-like 266 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) ATACAAGCAGGAATCAGTGGA 0.234000 6 24 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7303236 7303236 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:7303236C>T ENST00000537408.1 + 14 2916 c.2378C>T c.(2377-2379)tCc>tTc p.S793F CLSTN3_ENST00000266546.6_Missense_Mutation_p.S781F Q9BQT9 CSTN3_HUMAN calsyntenin 3 781 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TTCCGGCTTTCCTGCTCGGAA 0.557000 34 109 0 0 1 0 0 OR2K2 26248 broad.mit.edu 37 9 114090353 114090353 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:114090353C>T ENST00000374428.1 - 1 447 c.448G>A c.(448-450)Gac>Aac p.D150N OR2K2_ENST00000302681.1_Missense_Mutation_p.D121N Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 ACATAACGGTCATATGCCATC 0.527000 25 65 0 0 1 0 0 FIS1 51024 broad.mit.edu 37 7 100883103 100883103 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:100883103G>A ENST00000223136.4 - 5 523 c.443C>T c.(442-444)tCc>tTc p.S148F FIS1_ENST00000482199.1_5'UTR|FIS1_ENST00000474120.1_3'UTR|FIS1_ENST00000442303.1_3'UTR NM_016068.2 NP_057152.2 Q9Y3D6 FIS1_HUMAN fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) 148 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) TTTGGACTTGGACACAGCAAG 0.647000 4 11 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113387 94113387 + Silent SNP G G A rs141761818 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:94113387G>A ENST00000243673.2 - 4 1371 c.1200C>T c.(1198-1200)ctC>ctT p.L400L GPR83_ENST00000539203.2_Silent_p.L358L NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 400 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGGTGGGCAGGAGGTTATTGG 0.582000 44 43 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14765861 14765861 + Silent SNP C C T rs143842724 by1000genomes TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:14765861C>T ENST00000253673.5 - 6 610 c.510G>A c.(508-510)tcG>tcA p.S170S EMR3_ENST00000443157.2_Intron|EMR3_ENST00000599900.1_Intron|EMR3_ENST00000344373.4_Silent_p.S118S NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 170 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 CTAGAACTTTCGATTCCACAT 0.413000 25 100 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123344339 123344339 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:123344339C>T ENST00000253083.4 + 24 2552 c.2427C>T c.(2425-2427)cgC>cgT p.R809R NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 809 I/LWEQ. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) ACCAGGCACGCCACGCCAGCT 0.677000 40 47 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55216099 55216099 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:55216099G>A ENST00000340465.2 + 5 505 c.419G>A c.(418-420)gGg>gAg p.G140E NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 140 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GCATGTGTAGGGGATGTGGTC 0.473000 37 263 0 0 1 0 0 MAP4K2 5871 broad.mit.edu 37 11 64568397 64568397 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:64568397G>A ENST00000294066.2 - 9 728 c.637C>T c.(637-639)Cct>Tct p.P213S MAP4K2_ENST00000377350.3_Missense_Mutation_p.P213S|MAP4K2_ENST00000468062.1_5'UTR NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 213 Protein kinase. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 TGGAACAGAGGGGGCTGCAGC 0.647000 14 80 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106737219 106737219 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:106737219G>A ENST00000369701.3 + 4 1149 c.922G>A c.(922-924)Gac>Aac p.D308N NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 308 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAAGCAAGAGGACTGGGTGCT 0.458000 15 48 0 0 1 0 0 STEAP4 79689 broad.mit.edu 37 7 87913500 87913500 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:87913500C>T ENST00000380079.4 - 2 186 c.85G>A c.(85-87)Gat>Aat p.D29N STEAP4_ENST00000301959.5_Missense_Mutation_p.D29N|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.D29N|AC003991.3_ENST00000595121.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 29 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CTTCCAAAATCACCAGTTCCA 0.393000 42 85 0 0 1 0 0 PPOX 5498 broad.mit.edu 37 1 161138933 161138933 + Missense_Mutation SNP C C G rs12735723 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:161138933C>G ENST00000367999.4 + 7 1033 c.767C>G c.(766-768)cCg>cGg p.P256R PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.P256R|PPOX_ENST00000535223.1_Intron NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 256 P -> R (in dbSNP:rs12735723). heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGAGGCCAGCCGGTCTGTGGG 0.577000 6 99 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121746665 121746665 + Missense_Mutation SNP G G A rs150597008 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:121746665G>A ENST00000452319.1 + 14 3235 c.3175G>A c.(3175-3177)Gac>Aac p.D1059N GLI2_ENST00000361492.4_Missense_Mutation_p.D1059N|GLI2_ENST00000314490.11_Missense_Mutation_p.D731N P10070 GLI2_HUMAN GLI family zinc finger 2 1059 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCCGGAGGACGACCTGGTGCT 0.706000 24 61 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3684069 3684069 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:3684069G>A ENST00000344754.4 - 5 1002 c.1003C>T c.(1003-1005)Ccc>Tcc p.P335S SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P335S NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 335 Ig-like C2-type 3. 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 TCCAGGATGGGACCTGCTGGG 0.607000 16 85 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28736023 28736023 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:28736023G>A ENST00000257197.3 - 4 715 c.454C>T c.(454-456)Cca>Tca p.P152S RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P152S NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 152 Cadherin 1. 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) ACGTGTTGTGGAAATGGACCC 0.398000 18 62 0 0 1 0 0 RPAP2 79871 broad.mit.edu 37 1 92798971 92798971 + Silent SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:92798971A>T ENST00000370343.3 + 9 1588 c.1479A>T c.(1477-1479)atA>atT p.I493I NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 493 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) TTCCACTGATAGACTCAAGTT 0.328000 16 78 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52815970 52815970 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:52815970C>T ENST00000273283.2 + 7 726 c.702C>T c.(700-702)ttC>ttT p.F234F ITIH1_ENST00000542827.1_Silent_p.F234F|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Silent_p.F92F|ITIH1_ENST00000487686.1_3'UTR NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 234 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) ATGTGCTGTTCCGTCCCACCG 0.517000 18 135 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147744025 147744025 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:147744025A>G ENST00000370460.2 + 3 1256 c.777A>G c.(775-777)ttA>ttG p.L259L AFF2_ENST00000342251.3_Silent_p.L255L|AFF2_ENST00000370457.5_Silent_p.L255L|AFF2_ENST00000370458.1_Silent_p.L255L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 259 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CCTCTTTATTAGCTCCTAGCA 0.488000 38 287 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102256891 102256891 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:102256891C>T ENST00000370345.3 - 17 2234 c.e17+1 NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) AGAAGGGGTACCTGCAGAGCC 0.597000 9 44 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48797304 48797304 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:48797304C>T ENST00000316623.5 - 16 2333 c.1878G>A c.(1876-1878)ggG>ggA p.G626G NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 626 EGF-like 10; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGACGCAACGCCCATTCATGC 0.453000 37 121 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206305378 206305378 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:206305378C>T ENST00000406610.2 + 20 3233 c.3026C>T c.(3025-3027)cCa>cTa p.P1009L PARD3B_ENST00000358768.2_Missense_Mutation_p.P947L|PARD3B_ENST00000351153.1_Missense_Mutation_p.P940L|PARD3B_ENST00000349953.3_Intron NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 1009 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCATACCATCCACTGGTTCCA 0.433000 19 36 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41742068 41742068 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:41742068G>A ENST00000352645.4 + 14 1778 c.1521G>A c.(1519-1521)gaG>gaA p.E507E ZC3H7B_ENST00000351589.4_Silent_p.E507E NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 523 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACCATCAGGAGGAGATCGACG 0.607000 57 208 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15884894 15884894 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:15884894C>T ENST00000285670.2 - 5 658 c.483_splice c.e5-1 p.D162_splice SAMSN1_ENST00000400566.1_Splice_Site_p.D94_splice|SAMSN1_ENST00000400564.1_Intron NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 94 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCTTCCTCATCCTTCAGAAAA 0.413000 15 139 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26312962 26312962 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:26312962C>T ENST00000265944.5 + 9 909 c.743C>T c.(742-744)cCa>cTa p.P248L MYO3A_ENST00000543632.1_Missense_Mutation_p.P248L NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 248 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AATCCACCCCCAAAACTAAGG 0.388000 23 103 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718274 103718274 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:103718274C>T ENST00000245312.3 - 1 922 c.326G>A c.(325-327)gGa>gAa p.G109E NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 109 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GGAGGCAGTTCCTCCAGGGCA 0.507000 15 155 0 0 1 0 0 APEH 327 broad.mit.edu 37 3 49714371 49714371 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:49714371C>T ENST00000296456.5 + 10 1313 c.913C>T c.(913-915)Ccc>Tcc p.P305S APEH_ENST00000438011.1_Missense_Mutation_p.P305S NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 305 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGTCTCTTCTCCCCGGCTGAG 0.587000 51 104 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238053265 238053265 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:238053265G>A ENST00000366570.4 - 3 460 c.302C>T c.(301-303)tCc>tTc p.S101F RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 101 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) GATGTAGTGGGAGTCCTGGAG 0.557000 89 196 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7188302 7188302 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:7188302G>A ENST00000486284.1 + 2 957 c.683G>A c.(682-684)gGa>gAa p.G228E GRM7_ENST00000357716.4_Missense_Mutation_p.G228E|GRM7_ENST00000403881.1_Missense_Mutation_p.G228E|GRM7_ENST00000389336.4_Missense_Mutation_p.G228E|GRM7_ENST00000402647.2_Missense_Mutation_p.G228E NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 228 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GCATCGGAAGGAAGTTATGGA 0.512000 11 79 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72596868 72596868 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:72596868G>A ENST00000264839.7 + 1 142 c.142G>A c.(142-144)Gaa>Aaa p.E48K RIMS1_ENST00000491071.2_Missense_Mutation_p.E48K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E48K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E48K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E48K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E48K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E48K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E48K Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 48 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GGAAGAGGAGGAAAAAGAAGA 0.597000 3 9 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60638743 60638743 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:60638743C>T ENST00000278853.5 + 6 1068 c.1068C>T c.(1066-1068)atC>atT p.I356I NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 356 ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCATCCACATCCAAAAGGGGC 0.612000 15 42 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115454118 115454118 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:115454118G>A ENST00000369522.3 + 18 1684 c.1444G>A c.(1444-1446)Gaa>Aaa p.E482K SYCP1_ENST00000369518.1_Missense_Mutation_p.E482K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 482 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACATGATTTGGAAATACAGTT 0.299000 15 19 0 0 1 0 0 CECR1 51816 broad.mit.edu 37 22 17688074 17688074 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:17688074G>A ENST00000399839.1 - 3 699 c.429C>T c.(427-429)atC>atT p.I143I CECR1_ENST00000449907.2_Silent_p.I101I|CECR1_ENST00000399837.2_Silent_p.I143I|CECR1_ENST00000262607.3_Silent_p.I143I Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 143 PRB domain. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) TGAACTGCATGATCCCCCTTG 0.527000 18 130 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110970087 110970087 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:110970087C>T ENST00000394780.3 + 16 1792 c.1780C>T c.(1780-1782)Cga>Tga p.R594* ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Nonsense_Mutation_p.R490* NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 594 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CAAGAAAATTCGAGGGAAAGA 0.433000 43 226 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44589982 44589982 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:44589982C>T ENST00000421176.3 + 5 567 c.351C>T c.(349-351)tcC>tcT p.S117S ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) CTCAAGACTCCATAAGTAGCT 0.478000 11 69 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38813385 38813385 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:38813385C>T ENST00000359357.3 + 34 4484 c.4230C>T c.(4228-4230)atC>atT p.I1410I DNAH8_ENST00000449981.2_Silent_p.I1627I|DNAH8_ENST00000441566.1_Silent_p.I1410I dynein, axonemal, heavy chain 8 p.I1410I(2) 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 AGAAGGATATCGAAGCCAAGC 0.383000 14 91 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113384616 113384616 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:113384616C>T ENST00000228928.7 + 4 884 c.705C>T c.(703-705)ttC>ttT p.F235F RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 235 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 TGACCATCTTCGCCTGGGAGC 0.587000 14 17 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60638744 60638744 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:60638744C>T ENST00000278853.5 + 6 1069 c.1069C>T c.(1069-1071)Caa>Taa p.Q357* NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 357 ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CATCCACATCCAAAAGGGGCC 0.612000 15 44 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 183975448 183975448 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:183975448C>T ENST00000402825.3 + 2 384 c.384C>T c.(382-384)ctC>ctT p.L128L ECE2_ENST00000324557.4_Silent_p.L128L|EIF2B5_ENST00000444495.1_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 128 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATGTGGTGCTCGAGAAGGGCA 0.612000 36 57 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728174 20728174 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:20728174G>A ENST00000427401.4 - 4 929 c.835C>T c.(835-837)Cat>Tat p.H279Y NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 279 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TCTCCAGTATGAATTATCTTA 0.413000 10 65 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869643 151869643 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:151869643G>A ENST00000329342.5 + 3 558 c.333G>A c.(331-333)agG>agA p.R111R NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 111 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CACTCAGTAGGAAGGTGGCCA 0.547000 31 204 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887475 23887475 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:23887475C>T ENST00000355349.3 - 30 4275 c.4113G>A c.(4111-4113)tgG>tgA p.W1371* NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1371 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ACTTGGTCCTCCACTGGGCCA 0.627000 14 133 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160721145 160721145 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:160721145G>A ENST00000274547.2 - 11 1699 c.1482C>T c.(1480-1482)ttC>ttT p.F494F GABRB2_ENST00000520240.1_Silent_p.F456F|GABRB2_ENST00000517547.1_Silent_p.F296F|GABRB2_ENST00000393959.1_Silent_p.F494F|GABRB2_ENST00000353437.6_Silent_p.F456F|GABRB2_ENST00000517901.1_Silent_p.F393F NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 494 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCACTGGGAAGAATATGCGGG 0.468000 15 89 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70071218 70071218 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:70071218G>A ENST00000370598.1 + 29 4874 c.4053G>A c.(4051-4053)atG>atA p.M1351I BAI3_ENST00000546190.1_Missense_Mutation_p.M315I|BAI3_ENST00000238918.8_Missense_Mutation_p.M557I NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1351 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AATTCAATATGAATCCCCCTG 0.428000 29 138 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22281076 22281076 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:22281076C>T ENST00000324559.8 + 15 1736 c.1419C>T c.(1417-1419)gtC>gtT p.V473V NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 473 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGTCTCTTGTCGTCACCAGTA 0.383000 6 90 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7848075 7848075 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:7848075G>A ENST00000329913.3 - 1 297 c.250C>T c.(250-252)Cgc>Tgc p.R84C NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 84 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGGAGAAAGCGAAGTACATTC 0.483000 13 101 0 0 1 0 0 SMARCD3 6604 broad.mit.edu 37 7 150939005 150939005 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:150939005G>A ENST00000392811.2 - 8 1170 c.696C>T c.(694-696)gaC>gaT p.D232D SMARCD3_ENST00000262188.8_Silent_p.D245D|SMARCD3_ENST00000356800.2_Silent_p.D232D NM_003078.3 NP_003069.2 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 245 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCACACTCAGGTCCCCAGGCC 0.637000 19 13 0 0 1 0 0 MDH2 4191 broad.mit.edu 37 7 75693664 75693664 + Missense_Mutation SNP C C T rs146302743 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:75693664C>T ENST00000315758.5 + 7 735 c.641C>T c.(640-642)cCc>cTc p.P214L MDH2_ENST00000432020.2_Missense_Mutation_p.P172L|MDH2_ENST00000443006.1_Missense_Mutation_p.P107L NM_005918.2 NP_005909.2 P40926 MDHM_HUMAN malate dehydrogenase 2, NAD (mitochondrial) 214 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane binding|L-malate dehydrogenase activity p.P214L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) CAGTGCACCCCCAAGGTGGAC 0.637000 10 30 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577428 9577428 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:9577428C>T ENST00000301480.4 - 10 2408 c.2195G>A c.(2194-2196)cGa>cAa p.R732Q NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 732 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R732Q(1) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 AGTGTGAATTCGCACATGATT 0.398000 29 110 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61891073 61891073 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:61891073A>T ENST00000577390.1 - 4 1571 c.617T>A c.(616-618)gTt>gAt p.V206D CDH8_ENST00000577730.1_Missense_Mutation_p.V206D|CDH8_ENST00000584337.1_Missense_Mutation_p.V206D|CDH8_ENST00000299345.6_Missense_Mutation_p.V206D NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 206 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TATACTATAAACCAACTTTGC 0.378000 26 81 0 0 1 0 0 OSBP 5007 broad.mit.edu 37 11 59368785 59368785 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:59368785G>A ENST00000263847.1 - 5 1574 c.1095C>T c.(1093-1095)atC>atT p.I365I NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 365 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GCATGGTGATGATCTCAGGTG 0.398000 5 76 0 0 1 0 0 FBXO36 130888 broad.mit.edu 37 2 230861559 230861559 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:230861559G>A ENST00000373652.3 + 4 626 c.205G>A c.(205-207)Gat>Aat p.D69N FBXO36_ENST00000409992.1_Missense_Mutation_p.D80N|FBXO36_ENST00000283946.3_Missense_Mutation_p.D100N Q8NEA4 FBX36_HUMAN F-box protein 36 100 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 7 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) GCTCTCAGACGATTTGCTCCT 0.358000 25 209 0 0 1 0 0 FAM122C 159091 broad.mit.edu 37 X 133948838 133948838 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:133948838A>T ENST00000414371.2 + 4 429 c.256A>T c.(256-258)Att>Ttt p.I86F FAM122C_ENST00000370784.4_Missense_Mutation_p.I50F|FAM122C_ENST00000370785.3_Missense_Mutation_p.I50F|FAM122C_ENST00000445123.1_5'UTR NM_001170780.1|NM_001170784.1 NP_001164251.1|NP_001164255.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C 50 endometrium(2)|kidney(1)|lung(2) 5 Acute lymphoblastic leukemia(192;0.000127) CATGTTAAGAATTAGGACAAA 0.328000 15 177 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2613201 2613201 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:2613201G>A ENST00000397461.1 + 3 398 c.14G>A c.(13-15)tGg>tAg p.W5* CNTN4_ENST00000418658.1_Nonsense_Mutation_p.W5*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.W5* NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 5 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AGGTTGCCATGGGAACTGCTG 0.368000 20 53 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45188718 45188718 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:45188718C>T ENST00000279027.4 - 13 1770 c.1752G>A c.(1750-1752)tcG>tcA p.S584S SLC13A3_ENST00000396360.1_Silent_p.S502S|SLC13A3_ENST00000495082.1_Silent_p.S537S|SLC13A3_ENST00000472148.1_Silent_p.S502S|SLC13A3_ENST00000435032.1_Silent_p.S169S|SLC13A3_ENST00000413164.2_Silent_p.S534S|SLC13A3_ENST00000290317.5_Silent_p.S537S NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 584 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) TGACATTGACCGAGTACATAT 0.562000 24 139 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98453599 98453599 + Nonsense_Mutation SNP C C A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:98453599C>A ENST00000186436.5 - 8 973 c.745G>T c.(745-747)Gga>Tga p.G249* TMEM131_ENST00000425805.2_Nonsense_Mutation_p.G200* NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 249 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 AGGTCTCCTCCACTAGAGTAC 0.443000 21 74 2.39556e-15 2.41888e-15 1 1 0 RBM12 10137 broad.mit.edu 37 20 34242240 34242240 + Missense_Mutation SNP C C G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:34242240C>G ENST00000374114.3 - 3 1268 c.1005G>C c.(1003-1005)ttG>ttC p.L335F RBM12_ENST00000359646.1_Missense_Mutation_p.L335F|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.L335F|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 335 RRM 1. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CATGATCTTTCAACAAATGCA 0.393000 46 155 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166895983 166895983 + Missense_Mutation SNP G G T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:166895983G>T ENST00000423058.2 - 14 2556 c.2539C>A c.(2539-2541)Ctt>Att p.L847I AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.L847I|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L836I|SCN1A_ENST00000409050.1_Missense_Mutation_p.L819I NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 847 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCGAGTCCAAGTTCTACCAGG 0.348000 8 63 0.0477658 0.0477658 1 1 0 SPATA20 64847 broad.mit.edu 37 17 48627463 48627463 + Missense_Mutation SNP A A C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:48627463A>C ENST00000006658.6 + 8 1100 c.980A>C c.(979-981)gAc>gCc p.D327A SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.D267A|SPATA20_ENST00000356488.4_Missense_Mutation_p.D311A NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 311 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) GGCATCCGGGACCATGTGGGG 0.632000 17 199 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74394735 74394735 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:74394735G>A ENST00000429810.2 - 0 230 TCCAACAATCGACAGCAACCA 0.507000 5 36 0 0 1 0 0 SIX5 147912 broad.mit.edu 37 19 46269029 46269029 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:46269029G>A ENST00000317578.6 - 3 2331 c.1950C>T c.(1948-1950)ccC>ccT p.P650P SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA NM_175875.4 NP_787071.2 Q8N196 SIX5_HUMAN SIX homeobox 5 650 cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235) CCTCTGGTGGGGGCGCCGGGA 0.677000 14 72 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52668785 52668785 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:52668785G>A ENST00000356770.4 - 10 1040 c.1038C>T c.(1036-1038)tcC>tcT p.S346S PBRM1_ENST00000409114.3_Silent_p.S378S|PBRM1_ENST00000409057.1_Silent_p.S378S|PBRM1_ENST00000394830.3_Silent_p.S378S|PBRM1_ENST00000337303.4_Silent_p.S378S|PBRM1_ENST00000410007.1_Silent_p.S378S|PBRM1_ENST00000296302.7_Silent_p.S378S|PBRM1_ENST00000409767.1_Silent_p.S378S Q86U86 PB1_HUMAN polybromo 1 378 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CATCCATAAAGGAAGTGATGC 0.393000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 57 119 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93956557 93956557 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:93956557C>T ENST00000369303.4 - 15 2863 c.2679G>A c.(2677-2679)atG>atA p.M893I NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 893 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GGTTTCGAATCATTTTGTCTA 0.413000 11 94 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66280068 66280068 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:66280068G>A ENST00000273854.3 - 7 2221 c.1621C>T c.(1621-1623)Cga>Tga p.R541* EPHA5_ENST00000511294.1_Nonsense_Mutation_p.R541*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.R541*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.R377* NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 541 Fibronectin type-III 2. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GTACGTGCTCGAATTTGGAAG 0.433000 TSP Lung(17;0.13) 76 111 0 0 1 0 0 SLC35F6 54978 broad.mit.edu 37 2 26997180 26997180 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:26997180C>T ENST00000344420.5 + 2 201 c.139C>T c.(139-141)Ccc>Tcc p.P47S SLC35F6_ENST00000416475.2_Missense_Mutation_p.S21F|SLC35F6_ENST00000482746.1_Intron|CENPA_ENST00000475662.1_Intron NM_017877.3 NP_060347.2 solute carrier family 35, member F6 CTTCCAGCATCCCTTCCTCCA 0.622000 29 81 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75407149 75407149 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:75407149G>A ENST00000297784.5 + 17 1987 c.1447G>A c.(1447-1449)Gaa>Aaa p.E483K TMC1_ENST00000340019.3_Missense_Mutation_p.E483K|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.E483K NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 483 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TACCCTTTGGGAAGCCAATAT 0.413000 37 226 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113357440 113357440 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:113357440G>A ENST00000445409.2 + 6 1444 c.1187G>A c.(1186-1188)aGa>aAa p.R396K OAS1_ENST00000202917.5_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Intron NM_001032409.1 NP_001027581.1 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 0 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 ttgatccagagaggacaaagc 0.502000 12 13 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180374721 180374721 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:180374721C>T ENST00000231229.4 + 4 1117 c.883C>T c.(883-885)Cta>Tta p.L295L BTNL8_ENST00000508408.1_Silent_p.L295L|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000533815.2_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 152 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCTCTTCTTCTAGTCCTAGC 0.512000 52 246 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179306737 179306737 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:179306737G>A ENST00000356834.3 - 8 1344 c.1307C>T c.(1306-1308)cCc>cTc p.P436L TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P436L NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 436 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTGCTGAGGGGAGAGGCTGG 0.622000 8 64 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753599 13753599 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:13753599G>A ENST00000265104.4 - 63 10719 c.10615C>T c.(10615-10617)Cgt>Tgt p.R3539C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3539 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) AGAAGATCACGAAACTCTTGG 0.378000 Kartagener syndrome 24 108 0 0 1 0 0 HSPA13 6782 broad.mit.edu 37 21 15746238 15746238 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:15746238G>A ENST00000285667.3 - 5 1183 c.1116C>T c.(1114-1116)acC>acT p.T372T HSPA13_ENST00000544452.1_Silent_p.T164T NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 372 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 CTTCATTAAGGGTATCAAAGA 0.403000 52 155 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7639241 7639241 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:7639241G>A ENST00000359156.4 - 10 2514 c.2312C>T c.(2311-2313)tCt>tTt p.S771F CD163_ENST00000432237.2_Missense_Mutation_p.S771F|CD163_ENST00000396620.3_Missense_Mutation_p.S804F|CD163_ENST00000541972.1_Missense_Mutation_p.S759F NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 771 SRCR 7. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AAAATGAGCAGAACCAGTGGC 0.562000 39 297 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105153631 105153631 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:105153631G>A ENST00000428173.2 + 13 2304 c.2001G>A c.(1999-2001)atG>atA p.M667I NRK_ENST00000243300.9_Missense_Mutation_p.M666I Q7Z2Y5 NRK_HUMAN Nik related kinase 666 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 AAACCCTGATGGAAAATCTGT 0.433000 HNSCC(51;0.14) 3 17 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718780 42718780 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:42718780G>A ENST00000230882.4 + 10 1361 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E369K|GHR_ENST00000537449.1_Missense_Mutation_p.E204K NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 391 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CAGCTGTTGTGAACCTGACAT 0.473000 26 140 0 0 1 0 0 MED17 9440 broad.mit.edu 37 11 93528228 93528228 + Splice_Site SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:93528228T>A ENST00000251871.3 + 6 1299 c.e6+2 MED17_ENST00000533367.1_Intron NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCTTTCCGAGTAAGAGCAGCC 0.433000 17 269 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160797600 160797600 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:160797600C>T ENST00000263285.5 + 10 1992 c.1962C>T c.(1960-1962)ttC>ttT p.F654F LY9_ENST00000368040.1_Silent_p.F269F|LY9_ENST00000368035.1_Silent_p.F269F|LY9_ENST00000341032.4_Silent_p.F520F|LY9_ENST00000368041.2_Silent_p.F525F NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 654 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ATGAAAATTTCACCTGAAAGG 0.493000 93 138 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26219548 26219548 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:26219548G>A ENST00000335473.7 + 13 2848 c.2598G>A c.(2596-2598)ctG>ctA p.L866L MYO18B_ENST00000536101.1_Silent_p.L866L|MYO18B_ENST00000407587.2_Silent_p.L866L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 866 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ATGAGGAGCTGAACACGGCCA 0.567000 34 243 0 0 1 0 0 IGLL1 3543 broad.mit.edu 37 22 23915730 23915730 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:23915730G>A ENST00000330377.2 - 3 482 c.365C>T c.(364-366)tCc>tTc p.S122F IGLL1_ENST00000249053.3_Silent_p.V83V NM_020070.3 NP_064455.1 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 122 C region (By similarity to lambda light- chain).|Ig-like C1-type. immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 CTCCTCAGAGGACGGCGGGAA 0.592000 14 64 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879265 144879265 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:144879265G>A ENST00000369359.4 - 30 4631 c.4593C>T c.(4591-4593)ccC>ccT p.P1531P PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.P1395P|PDE4DIP_ENST00000369356.4_Silent_p.P1395P|PDE4DIP_ENST00000313382.9_Silent_p.P1351P|PDE4DIP_ENST00000530740.1_Silent_p.P1531P Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1395 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCAGCTTCCAGGGTCTTTCCA 0.537000 T PDGFRB MPD 93 188 0 0 1 0 0 KLF3 51274 broad.mit.edu 37 4 38698843 38698843 + Missense_Mutation SNP G G C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:38698843G>C ENST00000261438.5 + 6 1302 c.997G>C c.(997-999)Gac>Cac p.D333H NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 333 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 CTCCCGTTCTGACCATCTTGC 0.527000 35 137 0 0 1 0 0 IPPK 64768 broad.mit.edu 37 9 95414916 95414916 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:95414916G>A ENST00000287996.3 - 4 507 c.231C>T c.(229-231)gtC>gtT p.V77V NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 77 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 GTAGCTGAACGACCTCCTGTA 0.363000 22 106 0 0 1 0 0 OTUD7A 161725 broad.mit.edu 37 15 31779421 31779421 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:31779421C>T ENST00000382902.1 - 10 1439 c.1347G>A c.(1345-1347)tgG>tgA p.W449* OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.W442* Q8TE49 OTU7A_HUMAN OTU domain containing 7A 442 Catalytic (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GGATCCGGATCCACGTCACGT 0.572000 18 49 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54337720 54337720 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:54337720C>T ENST00000354646.2 - 3 980 c.542G>A c.(541-543)cGa>cAa p.R181Q WNK3_ENST00000375159.2_Missense_Mutation_p.R181Q|WNK3_ENST00000375169.3_Missense_Mutation_p.R181Q NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 181 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GGTTAACTTTCGGTCCTGAAA 0.378000 6 58 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2616640 2616640 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:2616640A>T ENST00000358864.1 + 18 2390 c.2375A>T c.(2374-2376)aAa>aTa p.K792I NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 792 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 CTGAGGAAGAAAATCCAAGTG 0.458000 10 66 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35823599 35823599 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:35823599C>T ENST00000085219.5 + 3 250 c.184C>T c.(184-186)Cct>Tct p.P62S CD22_ENST00000595419.1_3'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.P62S|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.P62S|CD22_ENST00000594250.1_Missense_Mutation_p.P62S|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.P62S NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 62 Ig-like V-type. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) GTTCCACAATCCTGAGTATAA 0.517000 16 89 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43119047 43119047 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:43119047G>A ENST00000428554.2 + 22 3217 c.2073_splice c.e22-1 p.E692_splice CCDC30_ENST00000342022.4_Splice_Site_p.E692_splice|CCDC30_ENST00000340612.4_Splice_Site_p.E692_splice|CCDC30_ENST00000390640.4_Splice_Site_p.E481_splice|CCDC30_ENST00000507855.1_Splice_Site_p.E481_splice Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 692 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 TTCCTTTTAGGAAACAACAAT 0.294000 48 36 0 0 1 0 0 LOC101928663 101928663 broad.mit.edu 37 6 25261443 25261443 + RNA SNP G G C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:25261443G>C ENST00000413898.2 - 0 196 GGCCAGAACCGTCATCTTCCA 0.398000 6 9 0 0 1 0 0 IGHV3-33 28434 broad.mit.edu 37 14 106815992 106815992 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:106815992C>T ENST00000390615.2 - 0 160 CCACGCCTCCCCCAGACTCCA 0.557000 12 104 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4043500 4043500 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:4043500C>T ENST00000294016.3 - 4 2434 c.1896G>A c.(1894-1896)tcG>tcA p.S632S ADCY9_ENST00000571889.1_5'UTR NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 632 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TGATTCCGCACGAAGGGCAGG 0.552000 7 76 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107360981 107360981 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:107360981G>A ENST00000374779.2 - 1 807 c.714C>T c.(712-714)tcC>tcT p.S238S NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AGCAGGTAGAGGAAGGTTTGC 0.413000 25 137 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117964916 117964916 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:117964916C>T ENST00000425217.1 - 13 1778 c.1724G>A c.(1723-1725)gGa>gAa p.G575E KSR2_ENST00000302438.5_Missense_Mutation_p.G301E|KSR2_ENST00000339824.5_Missense_Mutation_p.G604E|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 604 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TAATGGATTTCCTTCCAAGCT 0.443000 25 189 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179429924 179429924 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:179429924G>A ENST00000589042.1 - 326 81159 c.80935C>T c.(80935-80937)Cca>Tca p.P26979S TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24411S|TTN_ENST00000591111.1_Missense_Mutation_p.P25338S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18039S|TTN_ENST00000460472.2_Missense_Mutation_p.P17914S|TTN_ENST00000342175.6_Missense_Mutation_p.P18106S|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25338 Fibronectin type-III 96. 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) AACCGAACTGGGCCAACTGGA 0.438000 45 99 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112761501 112761501 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:112761501G>A ENST00000295408.4 + 13 2064 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K MERTK_ENST00000421804.2_Missense_Mutation_p.E603K|MERTK_ENST00000409780.1_Missense_Mutation_p.E427K Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 603 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GTCTGTAATGGAAGGAAATCT 0.473000 16 124 0 0 1 0 0 MAP3K3 4215 broad.mit.edu 37 17 61766969 61766969 + Missense_Mutation SNP C C G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:61766969C>G ENST00000361357.3 + 12 1348 c.1030C>G c.(1030-1032)Cgc>Ggc p.R344G MAP3K3_ENST00000584573.1_Missense_Mutation_p.R340G|MAP3K3_ENST00000579585.1_Missense_Mutation_p.R344G|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R309G|MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000361733.3_Missense_Mutation_p.R313G NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 313 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 GCCCTCCAGCCGCTCCCTGAG 0.597000 4 19 0 0 1 0 0 ZBTB25 7597 broad.mit.edu 37 14 64954158 64954158 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:64954158G>A ENST00000394715.1 - 6 1492 c.791C>T c.(790-792)tCc>tTc p.S264F ZBTB25_ENST00000261683.2_Missense_Mutation_p.S264F|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron P24278 ZBT25_HUMAN zinc finger and BTB domain containing 25 264 cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 10 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) GAATGGCAGGGATCCAGACAC 0.473000 24 161 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41158845 41158845 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:41158845G>A ENST00000263413.3 - 13 2163 c.1899C>T c.(1897-1899)gtC>gtT p.V633V C6_ENST00000337836.5_Silent_p.V633V NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 633 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CAGGAAGATCGACCTCTTTCA 0.403000 21 49 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60687762 60687762 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:60687762C>T ENST00000335712.6 - 4 2512 c.2285G>A c.(2284-2286)aGa>aAa p.R762K BCL11A_ENST00000358510.4_Missense_Mutation_p.R728K|BCL11A_ENST00000538214.1_Missense_Mutation_p.R728K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 762 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CGTGTGGCTTCTCCTGTGGAC 0.557000 T IGH@ B-CLL 43 144 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106695 55106695 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:55106695A>G ENST00000453777.1 + 5 659 c.489A>G c.(487-489)gaA>gaG p.E163E LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Silent_p.E163E|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 163 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GAGAAGATGAACACCCACAAT 0.587000 67 173 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216260106 216260106 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:216260106G>A ENST00000366943.2 - 24 5328 c.4942C>T c.(4942-4944)Ctg>Ttg p.L1648L RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Silent_p.L1648L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1648 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGCCCTCCCAGAAAGACTCCT 0.433000 HNSCC(13;0.011) 26 37 0 0 1 0 0 MSMB 4477 broad.mit.edu 37 10 51555754 51555754 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:51555754G>A ENST00000358559.2 + 2 114 c.27G>A c.(25-27)gtG>gtA p.V9V MSMB_ENST00000298239.6_Silent_p.V9V|MSMB_ENST00000474170.1_3'UTR NM_002443.3 NP_002434.1 P08118 MSMB_HUMAN microseminoprotein, beta- 9 extracellular space|nucleus lung(4)|ovary(2)|prostate(1) 7 GCAGCGTTGTGATCTTTGCCA 0.433000 11 36 0 0 1 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27887074 27887074 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:27887074C>T ENST00000326019.6 + 1 737 c.455C>T c.(454-456)cCc>cTc p.P152L NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 152 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) GCCCGGGCTCCCCCCTACCAA 0.652000 16 93 0 0 1 0 0 PRSS3 5646 broad.mit.edu 37 9 33799159 33799159 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:33799159C>T ENST00000361005.5 + 5 896 c.896C>T c.(895-897)aCc>aTc p.T299I PRSS3_ENST00000342836.4_Missense_Mutation_p.T256I|PRSS3_ENST00000379405.3_Missense_Mutation_p.T242I|PRSS3_ENST00000429677.3_Missense_Mutation_p.T235I|PRSS3_ENST00000495682.1_3'UTR|RP11-133O22.6_ENST00000454429.2_RNA NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 299 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) ATTAAGGACACCATCGCTGCC 0.562000 15 131 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141528506 141528506 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:141528506C>T ENST00000389484.3 - 34 6541 c.5570G>A c.(5569-5571)aGg>aAg p.R1857K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1857 EGF-like 4. 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) CATACAAGTCCTTGTAGTTTC 0.373000 TSP Lung(27;0.18) 17 119 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16266988 16266988 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb 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 20 270 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49958140 49958140 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:49958140C>T ENST00000376056.2 - 5 1347 c.1197G>A c.(1195-1197)aaG>aaA p.K399K AKAP4_ENST00000376064.3_Silent_p.K399K|AKAP4_ENST00000358526.2_Silent_p.K408K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 408 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) ACAGATTTCTCTTGACAGCTG 0.453000 14 107 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76893038 76893038 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:76893038G>A ENST00000409709.3 + 24 3218 c.2946G>A c.(2944-2946)ctG>ctA p.L982L MYO7A_ENST00000409893.1_Silent_p.L982L|MYO7A_ENST00000458637.2_Silent_p.L982L|MYO7A_ENST00000409619.2_Silent_p.L971L NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 982 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGGAGGACCTGGATGCAGCCC 0.602000 10 138 0 0 1 0 0 SLC35F5 80255 broad.mit.edu 37 2 114483038 114483038 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:114483038G>A ENST00000245680.2 - 12 1580 c.1167C>T c.(1165-1167)ttC>ttT p.F389F SLC35F5_ENST00000470204.2_5'UTR NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 389 transport integral to membrane p.F389F(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 TGGGAAACTCGAAGTCCTCAA 0.358000 29 58 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147889486 147889486 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:147889486G>A ENST00000360693.3 - 6 747 c.609C>T c.(607-609)atC>atT p.I203I HTR4_ENST00000354217.2_Silent_p.I203I|HTR4_ENST00000517929.1_Silent_p.I203I|HTR4_ENST00000521735.1_Silent_p.I203I|HTR4_ENST00000520514.1_Silent_p.I203I|HTR4_ENST00000314512.6_Silent_p.I203I|HTR4_ENST00000362016.2_Silent_p.I217I|HTR4_ENST00000521530.1_Silent_p.I203I|HTR4_ENST00000377888.3_Silent_p.I203I NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 203 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GGAGAAATGGGATGTAGAAGG 0.507000 10 37 0 0 1 0 0 CISH 1154 broad.mit.edu 37 3 50645558 50645558 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:50645558G>A ENST00000443053.2 - 4 535 c.308C>T c.(307-309)tCc>tTc p.S103F CISH_ENST00000348721.3_Missense_Mutation_p.S86F NM_013324.5 NP_037456.5 Q9NSE2 CISH_HUMAN cytokine inducible SH2-containing protein 86 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth intracellular breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GGCCGTAATGGAACCCCAATA 0.567000 15 48 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140783203 140783203 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:140783203C>T ENST00000573521.1 + 1 684 c.684C>T c.(682-684)atC>atT p.I228I PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGCGCATCCATGTGACAG 0.607000 10 60 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203807618 203807618 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:203807618C>T ENST00000320443.8 + 4 1277 c.234C>T c.(232-234)ttC>ttT p.F78F WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_Silent_p.F66F|CARF_ENST00000444724.1_Silent_p.F78F|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000438828.2_Silent_p.F78F|CARF_ENST00000434998.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000545253.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000402905.2_Silent_p.F78F calcium responsive transcription factor CAGAGCAATTCCATCTAGTGG 0.413000 25 127 0 0 1 0 0 RNF121 55298 broad.mit.edu 37 11 71671826 71671826 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:71671826C>T ENST00000361756.3 + 3 493 c.132C>T c.(130-132)caC>caT p.H44H RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Silent_p.H12H|RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000530137.1_Silent_p.H12H|RNF121_ENST00000393713.3_Silent_p.H12H NM_018320.4 NP_060790.2 Q9H920 RN121_HUMAN ring finger protein 121 44 integral to membrane zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1) 13 ATGCCAAGCACCGTGGCCATG 0.562000 10 116 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95604090 95604090 + Missense_Mutation SNP G G A rs149396482 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:95604090G>A ENST00000343958.4 - 2 1193 c.970C>T c.(970-972)Cgt>Tgt p.R324C FGD6_ENST00000549499.1_Missense_Mutation_p.R324C|FGD6_ENST00000546711.1_Missense_Mutation_p.R324C NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 324 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.R324C(1) breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CGTAACAGACGAGCAGTTCGT 0.413000 46 154 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123908863 123908863 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:123908863G>A ENST00000330487.5 - 1 854 c.846C>T c.(844-846)ttC>ttT p.F282F NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 282 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) CAACAGGGTTGAAAAGAGGAG 0.488000 10 101 0 0 1 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66131214 66131214 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:66131214C>T ENST00000590019.1 - 0 298 AGCTCCTCTTCGGGGATCTTG 0.577000 3 17 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70387354 70387354 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:70387354C>T ENST00000374051.3 + 6 1669 c.1347C>T c.(1345-1347)acC>acT p.T449T NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.T429T|NLGN3_ENST00000358741.3_Silent_p.T469T NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 469 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) ACCCTGAGACCCGCCGTAAAA 0.562000 20 46 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102335094 102335094 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:102335094C>T ENST00000425644.1 - 11 1048 c.50G>A c.(49-51)aGa>aAa p.R17K NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000395065.3_Silent_p.K326K Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 0 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TTGGTAACCTCTTGTGGGCTT 0.547000 132 243 0 0 1 0 0 FGGY 55277 broad.mit.edu 37 1 60073552 60073552 + Missense_Mutation SNP T T A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:60073552T>A ENST00000371218.4 + 9 1165 c.981T>A c.(979-981)aaT>aaA p.N327K FGGY_ENST00000371212.1_Missense_Mutation_p.N239K|FGGY_ENST00000371210.1_Missense_Mutation_p.N28K|FGGY_ENST00000303721.7_Missense_Mutation_p.N327K|FGGY_ENST00000474476.1_3'UTR NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 327 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCTGGCTGAATGAAGGTGGTC 0.423000 32 45 0 0 1 0 0 ZNF248 57209 broad.mit.edu 37 10 38120853 38120853 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:38120853G>A ENST00000395867.3 - 6 1980 c.1430C>T c.(1429-1431)tCa>tTa p.S477L ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.S477L|ZNF248_ENST00000374648.3_Intron|AL135791.1_ENST00000583461.1_RNA NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S477*(1) NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 AGTGAGGGCTGATCTGTGGCA 0.438000 27 111 0 0 1 0 0 LY6G6F 259215 broad.mit.edu 37 6 31678170 31678170 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:31678170G>A ENST00000375832.4 + 5 866 c.844G>A c.(844-846)Gag>Aag p.E282K XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron NM_001003693.1 NP_001003693.1 Q5SQ64 LY66F_HUMAN lymphocyte antigen 6 complex, locus G6F 282 integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4) 12 CCAGGTCTATGAGAACATCCA 0.527000 58 378 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129817091 129817091 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:129817091G>A ENST00000358825.5 - 5 700 c.469C>T c.(469-471)Ctg>Ttg p.L157L PRDM10_ENST00000360871.3_Silent_p.L157L|PRDM10_ENST00000526082.1_Silent_p.L71L|PRDM10_ENST00000423662.2_Silent_p.L71L|PRDM10_ENST00000528746.1_Silent_p.L131L|PRDM10_ENST00000304538.6_Silent_p.L71L NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CAGTCATCCAGATCCGTGTCC 0.597000 65 45 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189706738 189706738 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:189706738G>A ENST00000319332.5 - 4 1110 c.913C>T c.(913-915)Ctt>Ttt p.L305F LEPREL1_ENST00000427335.2_Missense_Mutation_p.L124F NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 305 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGCAGAGGAAGAAAATTCTCG 0.493000 46 138 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149357204 149357204 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:149357204G>A ENST00000355292.3 - 2 1171 c.809C>T c.(808-810)tCc>tTc p.S270F NR3C2_ENST00000358102.3_Missense_Mutation_p.S270F|NR3C2_ENST00000511528.1_Missense_Mutation_p.S270F|NR3C2_ENST00000512865.1_Missense_Mutation_p.S270F|NR3C2_ENST00000344721.4_Missense_Mutation_p.S270F|NR3C2_ENST00000342437.4_Missense_Mutation_p.S270F P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 270 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GGAAATTGAGGATTTCATGCT 0.488000 18 107 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16359691 16359691 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:16359691C>T ENST00000375692.1 + 20 2081 c.1953C>T c.(1951-1953)aaC>aaT p.N651N CLCNKA_ENST00000420078.1_Silent_p.N651N|CLCNKA_ENST00000439316.2_Silent_p.N609N|CLCNKA_ENST00000331433.4_Silent_p.N652N|CLCNKA_ENST00000464764.1_3'UTR P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 652 CBS 2. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) AGCTGTTGAACCTTCAGTCCC 0.617000 OREG0013132 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 96 141 0 0 1 0 0 PURG 29942 broad.mit.edu 37 8 30889509 30889509 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:30889509C>T ENST00000475541.1 - 1 1722 c.790G>A c.(790-792)Ggg>Agg p.G264R PURG_ENST00000339382.2_Missense_Mutation_p.G264R NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 264 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) AAAGAAGTCCCCTCTGGGAGT 0.458000 20 79 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49427309 49427309 + Missense_Mutation SNP G G C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:49427309G>C ENST00000301067.7 - 39 11178 c.11179C>G c.(11179-11181)Cgt>Ggt p.R3727G NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGCTGCATACGTTGCTGCTGC 0.587000 7 46 0 0 1 0 0 TTC26 79989 broad.mit.edu 37 7 138824642 138824642 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:138824642G>A ENST00000464848.1 + 4 321 c.241G>A c.(241-243)Gaa>Aaa p.E81K TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000495038.1_Missense_Mutation_p.E81K|TTC26_ENST00000474035.2_Missense_Mutation_p.E81K|TTC26_ENST00000343187.4_Missense_Mutation_p.E50K|TTC26_ENST00000478836.2_Missense_Mutation_p.E81K|TTC26_ENST00000430935.1_Missense_Mutation_p.E81K A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 81 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 TCAGGAATACGAAAATGCTAC 0.383000 7 72 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70953166 70953166 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:70953166G>A ENST00000334414.6 - 18 4715 c.4671C>T c.(4669-4671)tcC>tcT p.S1557S PTPRB_ENST00000451516.2_Silent_p.S1249S|PTPRB_ENST00000551525.1_Silent_p.S1556S|PTPRB_ENST00000550857.1_Silent_p.S1249S|PTPRB_ENST00000261266.5_Silent_p.S1339S|PTPRB_ENST00000538708.1_Silent_p.S1249S|PTPRB_ENST00000550358.1_Silent_p.S1469S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1339 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AAGTTTTCCAGGAATCACCAC 0.403000 77 205 0 0 1 0 0 TRAV8-1 28685 broad.mit.edu 37 14 22265555 22265555 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:22265555C>T ENST00000390430.2 + 0 97 AGGAGAATTTCCAAAGAGACG 0.502000 5 10 0 0 1 0 0 ADSSL1 122622 broad.mit.edu 37 14 105205679 105205679 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:105205679G>A ENST00000332972.5 + 4 661 c.502G>A c.(502-504)Gag>Aag p.E168K ADSSL1_ENST00000330877.2_Missense_Mutation_p.E125K NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 125 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GAAGGACTGGGAGAAGAGGCT 0.642000 4 12 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40948140 40948140 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:40948140G>A ENST00000246914.5 + 17 3452 c.e17-1 NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 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) TGCATCCTCAGGCACTTGTCA 0.547000 14 95 0 0 1 0 0 TADA2A 6871 broad.mit.edu 37 17 35827577 35827577 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:35827577G>A ENST00000394395.2 + 12 1016 c.843G>A c.(841-843)agG>agA p.R281R TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Silent_p.R281R NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 281 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 AACTCCGAAGGGAAATCAAGA 0.383000 13 34 0 0 1 0 0 MAOB 4129 broad.mit.edu 37 X 43655067 43655067 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:43655067C>T ENST00000378069.4 - 7 834 c.687G>A c.(685-687)gtG>gtA p.V229V MAOB_ENST00000538942.1_Silent_p.V213V|MAOB_ENST00000536181.1_Silent_p.V213V NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 229 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TCTCCAGCTTCACTCGGTCTC 0.468000 48 89 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127686 117127686 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:117127686C>T ENST00000310357.3 - 3 1203 c.1182G>A c.(1180-1182)agG>agA p.R394R GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.R394R NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 394 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) TGACGAAGTTCCTTTCTATAG 0.443000 12 84 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94881389 94881389 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:94881389C>T ENST00000289495.5 + 10 2762 c.2546C>T c.(2545-2547)aCc>aTc p.T849I PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T871I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T849I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T849I|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T849I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T849I NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 849 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AAAGGGGATACCATGGAGAAC 0.393000 HNSCC(28;0.073) 13 117 0 0 1 0 0 CTBP1-AS2 92070 broad.mit.edu 37 4 1244582 1244582 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:1244582C>T ENST00000581398.1 + 0 536 CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA NR_033339.1 GGAGAGACTTCTGGGGAGGAA 0.567000 16 55 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128384852 128384852 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:128384852C>T ENST00000389524.4 + 32 4402 c.4349C>T c.(4348-4350)tCt>tTt p.S1450F MYO7B_ENST00000409816.2_Missense_Mutation_p.S1450F|MYO7B_ENST00000428314.1_Missense_Mutation_p.S1450F|MYO7B_ENST00000409090.1_Missense_Mutation_p.S303F Q6PIF6 MYO7B_HUMAN myosin VIIB 1450 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CTGGAACTCTCTTTCCCAGAG 0.597000 9 25 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165673 172165673 + Silent SNP G G A rs4988509 byFrequency TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:172165673G>A ENST00000241256.2 - 1 573 c.531C>T c.(529-531)ccC>ccT p.P177P GHSR_ENST00000427970.1_Silent_p.P177P NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 177 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GCACGAAGATGGGCCCGGCGC 0.657000 31 53 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87241983 87241983 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:87241983G>A ENST00000297524.3 - 1 627 c.524C>T c.(523-525)tCc>tTc p.S175F SLC7A13_ENST00000419776.2_Missense_Mutation_p.S175F|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 175 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TCCAGTTAGGGAAATGAAGCT 0.408000 37 129 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62189579 62189579 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:62189579G>A ENST00000474889.1 + 12 2487 c.2110G>A c.(2110-2112)Ggg>Agg p.G704R PTPRG_ENST00000295874.10_Missense_Mutation_p.G704R NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 704 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TATGTCCCGCGGGGACCGATT 0.542000 25 105 0 0 1 0 0 TTC29 83894 broad.mit.edu 37 4 147796027 147796027 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:147796027C>T ENST00000513335.1 - 8 917 c.718G>A c.(718-720)Ggg>Agg p.G240R TTC29_ENST00000325106.4_Missense_Mutation_p.G214R|TTC29_ENST00000398886.4_Missense_Mutation_p.G240R Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 214 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) CATATCCGCCCCTGTGTCAAT 0.458000 7 54 0 0 1 0 0 LRRC58 116064 broad.mit.edu 37 3 120053969 120053969 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:120053969G>A ENST00000295628.3 - 3 742 c.647C>T c.(646-648)tCc>tTc p.S216F NM_001099678.1 NP_001093148.1 Q96CX6 LRC58_HUMAN leucine rich repeat containing 58 216 large_intestine(2)|lung(5) 7 GBM - Glioblastoma multiforme(114;0.147) AAGACTTAGGGAACGAAGTGA 0.343000 17 61 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31147108 31147108 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:31147108G>A ENST00000349752.5 - 13 1896 c.1257C>T c.(1255-1257)atC>atT p.I419I GALNT14_ENST00000406653.1_Silent_p.I399I|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000420311.2_Silent_p.I384I|GALNT14_ENST00000356174.3_Silent_p.I386I|GALNT14_ENST00000324589.5_Silent_p.I424I NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 419 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.I419I(1) cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TGCCCTTCTGGATGGAGGACT 0.537000 42 129 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94248555 94248555 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:94248555G>A ENST00000515393.1 - 9 1476 c.1477C>T c.(1477-1479)Ccc>Tcc p.P493S MCTP1_ENST00000505208.1_Missense_Mutation_p.P272S|MCTP1_ENST00000312216.8_Missense_Mutation_p.P272S|MCTP1_ENST00000505078.1_Missense_Mutation_p.P9S|MCTP1_ENST00000429576.2_Missense_Mutation_p.P226S NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 493 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TTCACGTAGGGATCGCTCAAC 0.463000 26 122 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372180 126372180 + Missense_Mutation SNP A A C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:126372180A>C ENST00000394329.3 + 9 10022 c.10009A>C c.(10009-10011)Att>Ctt p.I3337L FAT4_ENST00000335110.5_Missense_Mutation_p.I1635L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3337 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACACTATTTGATTTTTGGTAA 0.398000 80 121 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126237690 126237690 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:126237690G>A ENST00000394329.3 + 1 137 c.124G>A c.(124-126)Ggg>Agg p.G42R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 42 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGGGTCCACGGGGCCGAGCC 0.627000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 133 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230231587 230231587 + Splice_Site SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:230231587A>G ENST00000341772.4 - 12 2237 c.e12+1 NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CCCACAGCCAACCTGGCATGC 0.527000 26 90 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36293156 36293156 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:36293156G>A ENST00000301175.3 - 10 1380 c.1363C>T c.(1363-1365)Ctg>Ttg p.L455L NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 455 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTCCCATCCAGAGGAATGCCC 0.542000 21 127 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31383009 31383009 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:31383009C>T ENST00000268296.4 + 17 2185 c.2064C>T c.(2062-2064)ccC>ccT p.P688P ITGAX_ENST00000562522.1_Silent_p.P688P NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 688 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 GCCTGAGTCCCCGTGCCACCT 0.617000 9 69 0 0 1 0 0 FGF10 2255 broad.mit.edu 37 5 44305142 44305142 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:44305142C>T ENST00000264664.4 - 3 696 c.582G>A c.(580-582)agG>agA p.R194R NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 194 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGGTGTTTTTCCTTCGTGTTT 0.438000 30 171 0 0 1 0 0 FAM210B 116151 broad.mit.edu 37 20 54940142 54940142 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:54940142G>A ENST00000371384.3 + 2 277 c.e2-1 NM_080821.2 NP_543011.2 Q96KR6 CT108_HUMAN family with sequence similarity 210, member B integral to membrane TTTGTACACAGGACCCCAGCC 0.498000 16 37 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228505789 228505789 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:228505789C>T ENST00000570156.2 + 64 16991 c.16917C>T c.(16915-16917)atC>atT p.I5639I OBSCN_ENST00000366707.4_Silent_p.I2316I|OBSCN_ENST00000422127.1_Silent_p.I4682I|OBSCN_ENST00000366709.4_Silent_p.I1801I|OBSCN_ENST00000284548.11_Silent_p.I4682I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4682 SH3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGCTGGTGATCAAGGGCTTCA 0.642000 45 44 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216246510 216246510 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:216246510C>T ENST00000366943.2 - 28 6091 c.5705G>A c.(5704-5706)gGa>gAa p.G1902E RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1902E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1902 Fibronectin type-III 5. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGAGTCATTTCCCCTGCAGTT 0.488000 HNSCC(13;0.011) 34 38 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76350260 76350260 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:76350260G>A ENST00000476707.1 + 1 184 c.45G>A c.(43-45)acG>acA p.T15T CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000469589.1_Intron|CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000478060.1_Intron Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 0 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TTGATTCCACGAAAGCCTCAG 0.428000 3 16 0 0 1 0 0 TAS1R3 83756 broad.mit.edu 37 1 1266825 1266825 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:1266825G>A ENST00000339381.5 + 1 132 c.100G>A c.(100-102)Gac>Aac p.D34N NM_152228.1 NP_689414.1 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 34 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) GATGAAGGGGGACTACGTGCT 0.692000 11 33 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55035750 55035750 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:55035750C>T ENST00000330807.5 - 11 1764 c.1627G>A c.(1627-1629)Gtg>Atg p.V543M ALAS2_ENST00000335854.4_Missense_Mutation_p.V506M|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.V530M NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 543 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GGCAGCCCCACCGCAGTCCAA 0.542000 6 10 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76640843 76640843 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:76640843G>A ENST00000369950.3 - 15 2259 c.2070C>T c.(2068-2070)ttC>ttT p.F690F IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 690 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CGCAGGCCAGGAACTTGCAGG 0.512000 4 30 0 0 1 0 0 NEU1 4758 broad.mit.edu 37 6 31827643 31827643 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:31827643G>A ENST00000375631.4 - 6 1230 c.1101C>T c.(1099-1101)ccC>ccT p.P367P NM_000434.3 NP_000425.1 Q99519 NEUR1_HUMAN sialidase 1 (lysosomal sialidase) 367 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) AATAGCCACTGGGGCCTGGCC 0.592000 48 109 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31919251 31919251 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:31919251G>A ENST00000456570.1 + 28 3650 c.e28+1 CFB_ENST00000477310.1_Splice_Site|CFB_ENST00000556679.1_Splice_Site|CFB_ENST00000425368.2_Splice_Site P00751 CFAB_HUMAN complement factor B 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 ACTTGCAGAGGTGAGAGAATG 0.532000 64 223 0 0 1 0 0 NANOG 79923 broad.mit.edu 37 12 7945676 7945676 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:7945676G>A ENST00000229307.4 + 2 501 c.282G>A c.(280-282)aaG>aaA p.K94K NANOG_ENST00000526286.1_Silent_p.K94K NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 94 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) TCCCGGTCAAGAAACAGAAGA 0.473000 38 61 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130095498 130095498 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:130095498G>A ENST00000265379.6 + 3 980 c.486G>A c.(484-486)gtG>gtA p.V162V COL6A5_ENST00000432398.2_Silent_p.V162V A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 162 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AAGACGGGGTGAAAATTATCT 0.507000 9 34 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48744926 48744926 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:48744926G>A ENST00000285238.8 + 12 1523 c.1443G>A c.(1441-1443)atG>atA p.M481I ABCC3_ENST00000427699.1_Missense_Mutation_p.M481I NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 481 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TAAAGCAAATGAAATTGAAGG 0.552000 14 50 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130410923 130410923 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:130410923G>A ENST00000370904.1 - 20 3481 c.2571C>T c.(2569-2571)ctC>ctT p.L857L IGSF1_ENST00000370903.3_Silent_p.L871L|IGSF1_ENST00000370910.1_Silent_p.L857L|IGSF1_ENST00000361420.3_Silent_p.L866L|IGSF1_ENST00000467244.1_5'UTR Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 866 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 CTGTCACCACGAGCTCCACAG 0.527000 61 186 0 0 1 0 0 TARSL2 123283 broad.mit.edu 37 15 102201934 102201934 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:102201934C>T ENST00000335968.3 - 16 2269 c.2053G>A c.(2053-2055)Gaa>Aaa p.E685K TARSL2_ENST00000559492.1_5'UTR NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 685 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCATAGTTTTCTGAAAGAATG 0.294000 11 66 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35630155 35630155 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:35630155G>A ENST00000400445.3 + 7 1515 c.981G>A c.(979-981)atG>atA p.M327I NBEA_ENST00000379939.2_Missense_Mutation_p.M327I|NBEA_ENST00000310336.4_Missense_Mutation_p.M327I|NBEA_ENST00000540320.1_Missense_Mutation_p.M327I NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 327 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) aGTGGTACATGATCAGCATTG 0.313000 14 53 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123768261 123768261 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:123768261A>T ENST00000223642.1 - 20 2527 c.2498T>A c.(2497-2499)gTt>gAt p.V833D C5_ENST00000466280.1_5'UTR NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 833 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) TCCTCGTACAACAGAATATGG 0.388000 26 54 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57573152 57573152 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:57573152C>T ENST00000243077.3 + 29 5245 c.4779C>T c.(4777-4779)atC>atT p.I1593I NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1593 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGATGGAGATCCGAGGTGTGG 0.567000 11 44 0 0 1 0 0 GATA1 2623 broad.mit.edu 37 X 48649519 48649519 + Translation_Start_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:48649519G>A ENST00000376670.3 + 2 114 c.3G>A c.(1-3)atG>atA p.M1I GATA1_ENST00000376665.3_Start_Codon_SNP_p.M1I NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 1 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.M1fs(8)|p.M1I(6)|p.M1N(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 GAGGCTCCATGGAGTTCCCTG 0.587000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 8 13 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563223 55563223 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:55563223C>T ENST00000335605.1 + 1 192 c.192C>T c.(190-192)ttC>ttT p.F64F NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGTACTTTTTCCTTAGTCACC 0.368000 34 76 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825495 4825495 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:4825495G>A ENST00000380382.1 - 1 352 c.353C>T c.(352-354)gCt>gTt p.A118V MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A39V|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AACAGCCACAGCATACGTGGC 0.512000 10 49 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41559889 41559889 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:41559889G>A ENST00000400454.1 - 13 3056 c.2579C>T c.(2578-2580)tCt>tTt p.S860F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 860 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AAAGAAACCAGAATCTTCTCT 0.403000 12 63 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32463992 32463992 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:32463992C>T ENST00000266088.4 + 4 601 c.351C>T c.(349-351)gtC>gtT p.V117V SLC5A1_ENST00000543737.1_5'UTR NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 117 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 GGCTGTTTGTCCCCATCTATA 0.488000 66 192 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152815720 152815720 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:152815720G>A ENST00000370186.1 + 10 2083 c.1757G>A c.(1756-1758)gGg>gAg p.G586E ATP2B3_ENST00000349466.2_Missense_Mutation_p.G600E|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G600E|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G586E|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G600E|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G586E Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 600 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTCAGCAAGGGGGCCTCAGAG 0.547000 44 68 0 0 1 0 0 MPPED2 744 broad.mit.edu 37 11 30516869 30516869 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:30516869C>T ENST00000448418.2 - 4 870 c.510G>A c.(508-510)aaG>aaA p.K170K MPPED2_ENST00000358117.5_Silent_p.K170K NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 170 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 TCCTGAATCCCTTCACTGTTA 0.408000 16 69 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57337129 57337129 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:57337129C>T ENST00000374900.4 + 3 499 c.379C>T c.(379-381)Cct>Tct p.P127S NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 127 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 CCTTGGGGTTCCTTTGACAGT 0.408000 HNSCC(52;0.14) 24 54 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153039545 153039545 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:153039545G>A ENST00000538966.1 + 21 3851 c.3580G>A c.(3580-3582)Gat>Aat p.D1194N PLXNB3_ENST00000361971.5_Missense_Mutation_p.D1171N|PLXNB3_ENST00000538282.1_Missense_Mutation_p.D781N|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D824N NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1171 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCATGTCCTGGATGTGGAGGT 0.711000 6 27 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126781188 126781188 + Missense_Mutation SNP G G A rs138372925 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:126781188G>A ENST00000274473.6 + 21 2798 c.2531G>A c.(2530-2532)cGa>cAa p.R844Q MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.R844Q NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 844 Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AGCTTAAGCCGAACCAGTACT 0.438000 16 95 0 0 1 0 0 LOC401127 401127 broad.mit.edu 37 4 39482601 39482601 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:39482601C>T ENST00000513652.1 + 0 608 TCACTCCGATCCAGTCTCGGC 0.488000 12 49 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193096512 193096512 + Translation_Start_Site SNP C C T rs143752942 by1000genomes TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:193096512C>T ENST00000342358.4 - 1 120 c.3G>A c.(1-3)atG>atA p.M1I NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 1 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) TGTTCTCTTCCATCTGAACTC 0.463000 40 151 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007900 6007900 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:6007900G>A ENST00000332249.4 - 1 315 c.261C>T c.(259-261)atC>atT p.I87I NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAACCAGGTCGATGGCAGCTA 0.522000 10 24 0 0 1 0 0 RRAD 6236 broad.mit.edu 37 16 66956020 66956020 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:66956020G>A ENST00000299759.6 - 5 1136 c.886C>T c.(886-888)Cgc>Tgc p.R296C RRAD_ENST00000420652.1_Missense_Mutation_p.R296C P55042 RAD_HUMAN Ras-related associated with diabetes 296 Calmodulin-binding. small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) GATTTGGCGCGAAAGGCCATC 0.627000 10 41 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94046614 94046614 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr14:94046614G>A ENST00000553484.1 + 19 2707 c.2553G>A c.(2551-2553)aaG>aaA p.K851K UNC79_ENST00000393151.2_Silent_p.K851K|UNC79_ENST00000256339.4_Silent_p.K674K|UNC79_ENST00000555664.1_Silent_p.K851K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 851 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 CCTGCCAGAAGGACGAAAAAG 0.458000 33 80 0 0 1 0 0 DYRK4 8798 broad.mit.edu 37 12 4700407 4700407 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:4700407G>A ENST00000540757.2 + 3 221 c.61G>A c.(61-63)Gat>Aat p.D21N DYRK4_ENST00000543431.1_Missense_Mutation_p.D21N|DYRK4_ENST00000010132.5_Missense_Mutation_p.D21N NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 21 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) TAAAACCCAGGATCCCAAGGC 0.517000 10 63 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167298170 167298170 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:167298170G>A ENST00000409855.1 - 14 2019 c.1893C>T c.(1891-1893)gtC>gtT p.V631V NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 631 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ACAACAACAGGACCAAGTCTT 0.393000 26 74 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110497534 110497534 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:110497534G>A ENST00000324068.1 - 3 430 c.263C>T c.(262-264)tCc>tTc p.S88F CAPN6_ENST00000541758.1_5'UTR NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 88 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 AGCCAAACAGGAAAATGCAGA 0.463000 47 123 0 0 1 0 0 SAP130 79595 broad.mit.edu 37 2 128775435 128775435 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:128775435G>A ENST00000357702.5 - 3 376 c.245C>T c.(244-246)tCc>tTc p.S82F SAP130_ENST00000259234.6_Missense_Mutation_p.S56F|SAP130_ENST00000259235.3_Missense_Mutation_p.S82F NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 82 Poly-Ser. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) GGAGCTGCTGGAACTCATGTG 0.512000 33 84 0 0 1 0 0 PKM 5315 broad.mit.edu 37 15 72502751 72502751 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:72502751G>A ENST00000319622.6 - 4 771 c.315C>T c.(313-315)taC>taT p.Y105Y PKM_ENST00000449901.2_Silent_p.Y90Y|PKM_ENST00000389093.3_Silent_p.Y105Y|PKM_ENST00000335181.5_Silent_p.Y105Y|PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Silent_p.Y105Y|PKM_ENST00000565154.1_Silent_p.Y105Y|PKM_ENST00000565184.1_Silent_p.Y105Y NM_001206796.1|NM_182470.2|NM_182471.2 NP_001193725.1|NP_872270.1|NP_872271.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 CAACGGGCCGGTAGAGGATGG 0.557000 38 107 0 0 1 0 0 HMX2 3167 broad.mit.edu 37 10 124908153 124908153 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:124908153C>T ENST00000339992.3 + 1 516 c.259C>T c.(259-261)Cct>Tct p.P87S NM_005519.1 NP_005510.1 A2RU54 HMX2_HUMAN H6 family homeobox 2 87 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(4)|prostate(1) 7 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) CATCCCTTTTCCTTGCCTGGG 0.716000 10 37 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95680245 95680245 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:95680245C>T ENST00000433389.2 + 10 1190 c.1000C>T c.(1000-1002)Cct>Tct p.P334S ESRP1_ENST00000423620.2_Missense_Mutation_p.P334S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P334S|ESRP1_ENST00000358397.5_Missense_Mutation_p.P334S NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 334 RRM 2. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 GCGGGGGCTCCCTTTCACGGC 0.507000 11 78 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269396 150269396 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:150269396G>A ENST00000255945.2 + 3 413 c.238G>A c.(238-240)Gaa>Aaa p.E80K GIMAP4_ENST00000461940.1_Missense_Mutation_p.E94K|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 80 GTP binding p.E80*(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAGGAAACAGAACTTGTCGT 0.488000 14 95 0 0 1 0 0 ZNF883 169834 broad.mit.edu 37 9 115760000 115760000 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:115760000G>A ENST00000427548.1 - 0 1813 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TACACTGGTAGGATTTTTCCT 0.398000 8 84 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148583260 148583260 + Splice_Site SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:148583260G>A ENST00000296046.3 + 2 121 c.68_splice c.e2-1 p.R23_splice RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 23 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTCCACAAAGGGAGAAGGTGT 0.398000 41 67 0 0 1 0 0 LRCH2 57631 broad.mit.edu 37 X 114357450 114357450 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:114357450G>A ENST00000317135.8 - 19 2003 c.1973C>T c.(1972-1974)tCc>tTc p.S658F LRCH2_ENST00000538422.1_Missense_Mutation_p.S641F NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 658 CH. breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 TTTTAACCTGGATTCAAGATT 0.328000 5 35 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130095241 130095241 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:130095241G>A ENST00000265379.6 + 3 723 c.229G>A c.(229-231)Gag>Aag p.E77K COL6A5_ENST00000432398.2_Missense_Mutation_p.E77K A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 77 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GTACAGCGACGAGTTTCACAG 0.483000 18 41 0 0 1 0 0 CD14 929 broad.mit.edu 37 5 140012422 140012422 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:140012422G>A ENST00000302014.6 - 2 776 c.147C>T c.(145-147)ttC>ttT p.F49F CD14_ENST00000401743.2_Silent_p.F49F NM_000591.3 NP_000582.1 P08571 CD14_HUMAN CD14 molecule 49 apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACACACTGGAAGGCTTCGG 0.597000 10 57 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113764226 113764226 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:113764226G>A ENST00000259211.6 + 3 587 c.176G>A c.(175-177)aGa>aAa p.R59K NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 59 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 GAGAAAGACAGAGGGAACCCC 0.527000 96 292 0 0 1 0 0 ACOT9 23597 broad.mit.edu 37 X 23722059 23722059 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:23722059G>A ENST00000379303.5 - 16 1427 c.1299C>T c.(1297-1299)tcC>tcT p.S433S ACOT9_ENST00000336430.7_Silent_p.S424S|ACOT9_ENST00000379295.1_Silent_p.S364S NM_001037171.1 NP_001032248.1 Q9Y305 ACOT9_HUMAN acyl-CoA thioesterase 9 424 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1) 15 GGCCACTCATGGAGTTGAAAT 0.453000 19 54 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146513 70146513 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:70146513G>A ENST00000335568.5 + 1 297 c.295G>A c.(295-297)Gac>Aac p.D99N UGT2B28_ENST00000511240.1_Missense_Mutation_p.D99N NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 99 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GAGATGGTCAGACATTCAAAA 0.323000 23 160 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70417713 70417713 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:70417713C>T ENST00000327305.6 - 9 1782 c.1125G>A c.(1123-1125)agG>agA p.R375R NETO1_ENST00000299430.2_Silent_p.R374R|NETO1_ENST00000583169.1_Silent_p.R375R NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 375 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AGTCTGATTTCCTTTGGACAT 0.453000 25 87 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102284087 102284087 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:102284087C>T ENST00000438793.3 + 8 1051 c.581C>T c.(580-582)cCt>cTt p.P194L PAM_ENST00000274392.9_Missense_Mutation_p.P97L|PAM_ENST00000455264.2_Missense_Mutation_p.P194L|PAM_ENST00000304400.7_Missense_Mutation_p.P194L|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000348126.2_Missense_Mutation_p.P194L|PAM_ENST00000346918.2_Missense_Mutation_p.P194L NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 194 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TGCAGACAGCCTTTAATTGCT 0.313000 16 64 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174649 207174649 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:207174649G>A ENST00000374423.3 + 5 5783 c.5397G>A c.(5395-5397)agG>agA p.R1799R NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1799 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATTCTGTAAGGAACCTGAAAA 0.408000 18 47 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48286079 48286079 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:48286079C>T ENST00000320048.1 + 1 667 c.667C>T c.(667-669)Ctg>Ttg p.L223L NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 CCTGCACTTCCTGAGAAGCCA 0.527000 12 89 0 0 1 0 0 PCIF1 63935 broad.mit.edu 37 20 44573541 44573541 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:44573541C>T ENST00000372409.3 + 11 1404 c.1040C>T c.(1039-1041)cCc>cTc p.P347L NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 347 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 CAGTGTGGCCCCCACGTCTCG 0.607000 4 47 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121929400 121929400 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:121929400G>A ENST00000265922.3 - 8 2709 c.2248C>T c.(2248-2250)Ctc>Ttc p.L750F DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 750 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GACTGTTTGAGGATCTCCGTG 0.502000 75 146 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41906287 41906287 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:41906287G>A ENST00000396930.3 - 3 752 c.209C>T c.(208-210)tCc>tTc p.S70F KAT6A_ENST00000485568.1_Missense_Mutation_p.S70F|KAT6A_ENST00000406337.1_Missense_Mutation_p.S70F|KAT6A_ENST00000265713.2_Missense_Mutation_p.S70F NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 70 Required for activation of RUNX1-1.|Required for nuclear localization. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ATCTTTATAGGAATTGAGTCC 0.353000 52 178 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818734 159818734 + RNA SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:159818734G>A ENST00000497452.1 - 0 517 AGGAGGGAACGAAGTCACCGA 0.507000 52 169 0 0 1 0 0 RIBC1 158787 broad.mit.edu 37 X 53455434 53455434 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:53455434G>A ENST00000457095.1 + 5 607 c.403G>A c.(403-405)Ggt>Agt p.G135S RIBC1_ENST00000490702.1_3'UTR|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Missense_Mutation_p.G135S NM_144968.2 NP_659405.1 Q8N443 RIBC1_HUMAN RIB43A domain with coiled-coils 1 135 lung(2) 2 TACCTATCCTGGTCCAGCCAG 0.522000 5 26 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10367885 10367885 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:10367885C>T ENST00000255381.2 - 7 662 c.552G>A c.(550-552)ggG>ggA p.G184G CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 184 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCACAGTCTTCCCTGCACCAG 0.428000 21 63 0 0 1 0 0 PLSCR4 57088 broad.mit.edu 37 3 145912223 145912223 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:145912223C>T ENST00000354952.2 - 9 1205 c.965G>A c.(964-966)aGa>aAa p.R322K PLSCR4_ENST00000493382.1_Missense_Mutation_p.R322K|PLSCR4_ENST00000383083.2_Missense_Mutation_p.R232K|PLSCR4_ENST00000433593.2_Missense_Mutation_p.R217K|PLSCR4_ENST00000446574.2_Missense_Mutation_p.R322K NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 322 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 TGGTGGAGATCTTTCAAAATA 0.328000 37 62 0 0 1 0 0 MYOZ2 51778 broad.mit.edu 37 4 120072035 120072035 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:120072035G>A ENST00000307128.5 + 3 298 c.85G>A c.(85-87)Ggc>Agc p.G29S NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 29 protein phosphatase 2B binding endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 AGATGTTGATGGCATGGACCT 0.373000 60 90 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40030179 40030179 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:40030179C>T ENST00000372857.3 - 10 2161 c.1369G>A c.(1369-1371)Ggg>Agg p.G457R PABPC4_ENST00000372856.3_Missense_Mutation_p.G457R|PABPC4_ENST00000372858.3_Missense_Mutation_p.G457R|PABPC4_ENST00000372862.3_Missense_Mutation_p.G457R NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 457 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GGACGAGGCCCAGACTGGCGT 0.542000 115 64 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41414358 41414358 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr21:41414358G>A ENST00000400454.1 - 32 6103 c.5626C>T c.(5626-5628)Ccc>Tcc p.P1876S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1876 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGAGGTTTGGGGGGAGATGCA 0.567000 11 114 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88522583 88522583 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:88522583C>T ENST00000317501.3 - 15 1993 c.1832G>A c.(1831-1833)gGc>gAc p.G611D NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.G611D|NTRK3_ENST00000542733.2_Intron NM_001007156.2 NP_001007157.1 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 0 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TTTTTAAAAGCCATGACGTCC 0.438000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 44 119 0 0 1 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43585437 43585437 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:43585437C>T ENST00000409746.5 - 6 486 c.415G>A c.(415-417)Gat>Aat p.D139N PSTPIP2_ENST00000589328.1_Missense_Mutation_p.D139N|PSTPIP2_ENST00000588801.1_5'UTR NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 139 membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 TGACTCACATCCATGGTTTTC 0.313000 3 8 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149528364 149528364 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:149528364C>T ENST00000258484.6 + 9 1268 c.1234C>T c.(1234-1236)Cgt>Tgt p.R412C NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 412 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) TTTGCAGCCTCGTTTGGACCA 0.358000 24 40 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542483 12542483 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr19:12542483G>A ENST00000301547.5 - 4 700 c.503C>T c.(502-504)cCa>cTa p.P168L CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 168 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 ACAATCATATGGTTTCTTTCC 0.428000 27 157 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145628356 145628356 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:145628356C>T ENST00000296575.3 + 6 1756 c.1101C>T c.(1099-1101)atC>atT p.I367I NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 367 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TTTTGTACATCATTCTTGGTG 0.433000 15 101 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98453600 98453600 + Silent SNP A A G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:98453600A>G ENST00000186436.5 - 8 972 c.744T>C c.(742-744)agT>agC p.S248S TMEM131_ENST00000425805.2_Silent_p.S199S NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 248 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GGTCTCCTCCACTAGAGTACA 0.443000 21 72 0 0 1 0 0 EN2 2020 broad.mit.edu 37 7 155255165 155255165 + Missense_Mutation SNP A A T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:155255165A>T ENST00000297375.4 + 2 1034 c.785A>T c.(784-786)gAg>gTg p.E262V NM_001427.3 NP_001418.2 P19622 HME2_HUMAN engrailed homeobox 2 262 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCAAGGCCGAGTTCCAGACC 0.592000 18 190 0 0 1 0 0 OR1B1 347169 broad.mit.edu 37 9 125391277 125391277 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr9:125391277G>A ENST00000304833.3 - 1 575 c.538C>T c.(538-540)Ctt>Ttt p.L180F RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 AAGTGAGGAAGGTTAACGTTG 0.527000 11 37 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14958785 14958785 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:14958785C>T ENST00000285046.5 + 12 3545 c.3435C>T c.(3433-3435)ccC>ccT p.P1145P FGD5_ENST00000543601.1_Silent_p.P904P|FGD5_ENST00000476851.1_3'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1145 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 ACACCTATCCCCAGAAGGATG 0.567000 4 33 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168108332 168108332 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:168108332G>A ENST00000409195.1 + 9 10519 c.10430G>A c.(10429-10431)aGa>aAa p.R3477K XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3477K|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3255K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3302 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 AAAGAAGTAAGAAAAAATTTT 0.433000 15 102 0 0 1 0 0 RSPH10B2 728194 broad.mit.edu 37 7 6820506 6820506 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:6820506C>T ENST00000403107.1 + 13 1983 c.1596C>T c.(1594-1596)gcC>gcT p.A532A RSPH10B2_ENST00000433859.2_Silent_p.A532A|RSPH10B2_ENST00000297186.3_Silent_p.A532A|RSPH10B2_ENST00000359718.3_Intron|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000404077.1_Silent_p.A532A radial spoke head 10 homolog B2 (Chlamydomonas) breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2) 15 GTCCAAATGCCTGCCAGATAA 0.393000 9 175 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57983038 57983038 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr11:57983038C>T ENST00000309433.6 + 1 822 c.822C>T c.(820-822)ttC>ttT p.F274F NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TGTACTTTTTCCCCTCCTCCA 0.473000 18 109 0 0 1 0 0 SSX3 10214 broad.mit.edu 37 X 48206994 48206994 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:48206994C>T ENST00000298396.2 - 7 564 c.512G>A c.(511-513)aGa>aAa p.R171K SSX3_ENST00000376895.1_Missense_Mutation_p.R83K NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CAGCTGCTTTCTCTCACGCAG 0.507000 164 383 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94259666 94259666 + Splice_Site SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr5:94259666C>T ENST00000515393.1 - 7 1272 c.e7+1 MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000429576.2_Intron NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TTAGACATTACCCTCCAAAAG 0.303000 4 30 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109535458 109535458 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:109535458C>T ENST00000356711.2 + 13 1537 c.1411C>T c.(1411-1413)Cct>Tct p.P471S MYO16_ENST00000251041.5_Missense_Mutation_p.P471S|MYO16_ENST00000357550.2_Missense_Mutation_p.P471S NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 471 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTCGCTGCCTCCTCACCTCTT 0.562000 36 248 0 0 1 0 0 FRMD5 84978 broad.mit.edu 37 15 44198084 44198084 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:44198084G>A ENST00000417257.1 - 6 669 c.493C>T c.(493-495)Cct>Tct p.P165S FRMD5_ENST00000402883.1_Missense_Mutation_p.P165S|FRMD5_ENST00000484674.1_Missense_Mutation_p.P76S NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 165 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) GAATGTTTAGGGAAAAACTGG 0.458000 16 117 0 0 1 0 0 PPBP 5473 broad.mit.edu 37 4 74853792 74853792 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:74853792G>A ENST00000296028.3 - 1 122 c.29C>T c.(28-30)tCc>tTc p.S10F NM_002704.3 NP_002695.1 P02775 CXCL7_HUMAN pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 10 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2) 10 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) ACTGTTACAGGAAGGGGTGGT 0.522000 8 116 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110845216 110845216 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr13:110845216G>A ENST00000375820.4 - 23 1547 c.1426C>T c.(1426-1428)Cgg>Tgg p.R476W COL4A1_ENST00000543140.1_Missense_Mutation_p.R476W NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 476 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.R476R(1)|p.R470W(1)|p.R476W(1)|p.R470R(1) 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) GGAGGCCCCCGATATCCGTCT 0.498000 32 98 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158450041 158450041 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:158450041G>A ENST00000355585.4 + 3 543 c.468G>A c.(466-468)tgG>tgA p.W156* SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.W156*|SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.W156*|SYNJ2_ENST00000449859.2_Nonsense_Mutation_p.W105* NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 156 SAC. 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) GCTCTGAATGGGGGAACTCCT 0.617000 27 67 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995253 140995253 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:140995253C>T ENST00000285879.4 + 4 2349 c.2063C>T c.(2062-2064)tCc>tTc p.S688F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 688 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGGGAGGATTCCCTGTCTCCT 0.572000 HNSCC(15;0.026) 56 113 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50882378 50882378 + Missense_Mutation SNP C C T rs150413435 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr22:50882378C>T ENST00000359139.3 + 22 2979 c.2585C>T c.(2584-2586)cCc>cTc p.P862L PPP6R2_ENST00000216061.5_Missense_Mutation_p.P895L|PPP6R2_ENST00000395741.3_Missense_Mutation_p.P862L|PPP6R2_ENST00000395744.3_Missense_Mutation_p.P861L NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 895 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GTGGCTGTGCCCCCCGAGGCT 0.667000 6 10 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213921627 213921627 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:213921627C>T ENST00000457361.1 - 4 504 c.336G>A c.(334-336)ctG>ctA p.L112L IKZF2_ENST00000413091.3_Silent_p.L112L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000434687.1_Silent_p.L112L|IKZF2_ENST00000342002.2_Silent_p.L118L NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CGTCACATTTCAGTTTACCAT 0.493000 28 85 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102183030 102183030 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:102183030G>A ENST00000306176.1 + 7 844 c.744G>A c.(742-744)atG>atA p.M248I ZPLD1_ENST00000491959.1_Missense_Mutation_p.M232I|ZPLD1_ENST00000466937.1_Missense_Mutation_p.M232I NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 232 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ATGTTTTAATGGATTATTGCT 0.318000 18 75 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6549450 6549450 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr10:6549450C>T ENST00000263125.5 - 4 426 c.327G>A c.(325-327)ctG>ctA p.L109L PRKCQ_ENST00000539722.1_Intron|PRKCQ_ENST00000397176.2_Silent_p.L109L NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 109 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CTTGAGGTTTCAGCTCTAACT 0.468000 94 171 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49321428 49321428 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:49321428G>A ENST00000351842.4 - 18 2399 c.2391C>T c.(2389-2391)ttC>ttT p.F797F USP4_ENST00000265560.4_Silent_p.F844F NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 844 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) ACCTGATTGGGAATTCTACGA 0.458000 19 166 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891977 18891977 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr12:18891977G>A ENST00000317658.3 + 1 933 c.775G>A c.(775-777)Gat>Aat p.D259N NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 259 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding p.D259Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TCTACGAAGGGATCTTCCAGT 0.413000 45 65 0 0 1 0 0 TMEM71 137835 broad.mit.edu 37 8 133764175 133764175 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:133764175G>A ENST00000356838.3 - 4 312 c.170C>T c.(169-171)tCc>tTc p.S57F TMEM71_ENST00000523829.1_Missense_Mutation_p.S57F|TMEM71_ENST00000377901.4_Missense_Mutation_p.S57F|TMEM71_ENST00000517538.1_5'UTR NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 57 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GGTATAGTGGGAGCCTGTCAG 0.463000 21 79 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118215319 118215319 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:118215319C>T ENST00000402510.2 - 14 5102 c.5103G>A c.(5101-5103)tgG>tgA p.W1701* NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1701 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CCATGTGGCTCCATGCTTTGG 0.413000 31 207 0 0 1 0 0 AQP8 343 broad.mit.edu 37 16 25228650 25228650 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:25228650C>T ENST00000219660.5 + 2 269 c.144C>T c.(142-144)ttC>ttT p.F48F AQP8_ENST00000566125.1_Silent_p.F42F NM_001169.2 NP_001160.2 O94778 AQP8_HUMAN aquaporin 8 48 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) CTGCTCTCTTCATCTTCATCG 0.632000 54 239 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48797305 48797305 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:48797305C>T ENST00000316623.5 - 16 2332 c.1877G>A c.(1876-1878)gGg>gAg p.G626E NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 626 EGF-like 10; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GACGCAACGCCCATTCATGCA 0.448000 36 121 0 0 1 0 0 HIST1H4C 8364 broad.mit.edu 37 6 26104230 26104230 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:26104230C>T ENST00000377803.2 + 1 127 c.55C>T c.(55-57)Cat>Tat p.H19Y NM_003542.3 NP_003533.1 P62805 H4_HUMAN histone cluster 1, H4c 19 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 TGCTAAGCGCCATCGTAAGGT 0.532000 15 105 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47163476 47163476 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:47163476G>A ENST00000409792.3 - 3 2692 c.2650C>T c.(2650-2652)Cag>Tag p.Q884* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 884 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GGAAGACTCTGAAGAGATGAA 0.398000 """N, F, S, Mis""" clear cell renal carcinoma 32 125 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56471862 56471862 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr6:56471862G>A ENST00000370754.5 - 39 7464 c.7465C>T c.(7465-7467)Cac>Tac p.H2489Y DST_ENST00000312431.6_Missense_Mutation_p.H2311Y|DST_ENST00000370769.4_Missense_Mutation_p.H2311Y|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.H1985Y|DST_ENST00000361203.3_Missense_Mutation_p.H2311Y|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron Q03001 DYST_HUMAN dystonin 2311 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTATCATTGTGATATTGTACT 0.358000 29 46 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20489461 20489461 + RNA SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr15:20489461C>T ENST00000555186.1 + 0 449 NR_038836.1 AACACAACTTCATTCCTAAAG 0.428000 11 223 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138169325 138169325 + Nonsense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr2:138169325C>T ENST00000409968.1 + 14 3020 c.2842C>T c.(2842-2844)Cga>Tga p.R948* THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R917*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R948* thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGAGCCTCACCGAGGACTGCG 0.483000 35 138 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324854 150324854 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:150324854C>T ENST00000328902.5 - 3 1048 c.832G>A c.(832-834)Gaa>Aaa p.E278K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 278 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCTCAGATTCCTTCTGGATC 0.572000 19 130 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76455871 76455871 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:76455871G>A ENST00000389840.5 - 60 9730 c.9606C>T c.(9604-9606)gcC>gcT p.A3202A DNAH17_ENST00000585328.1_Silent_p.A3211A|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CTCACTTGAAGGCCTTCAGGC 0.602000 26 65 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86048139 86048139 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:86048139C>T ENST00000414626.2 + 13 3099 c.2210C>T c.(2209-2211)tCa>tTa p.S737L LRRCC1_ENST00000360375.3_Missense_Mutation_p.S757L Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 757 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 GCCAAGGAATCACTAATATTT 0.353000 14 93 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60765904 60765904 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:60765904G>A ENST00000303375.5 + 22 3506 c.3104G>A c.(3103-3105)tGg>tAg p.W1035* MRC2_ENST00000446119.2_5'UTR NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1035 C-type lectin 6. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 TTTGACCTTTGGATTGGCCTC 0.567000 31 177 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148523568 148523568 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:148523568G>A ENST00000320356.2 - 8 1006 c.885C>T c.(883-885)ttC>ttT p.F295F EZH2_ENST00000541220.1_Silent_p.F286F|EZH2_ENST00000476773.1_Silent_p.F286F|EZH2_ENST00000478654.1_Silent_p.F286F|EZH2_ENST00000460911.1_Silent_p.F295F|EZH2_ENST00000483967.1_Silent_p.F286F|EZH2_ENST00000350995.2_Silent_p.F256F|EZH2_ENST00000536783.1_Silent_p.F186F NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 295 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TACGATGTAGGAAGCAGTCAT 0.353000 Mis DLBCL 18 47 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21985247 21985247 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr8:21985247G>A ENST00000381418.4 - 3 2188 c.708C>T c.(706-708)caC>caT p.H236H HR_ENST00000312841.8_Silent_p.H236H NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 236 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CTCTCTGCAGGTGCCCACCAG 0.602000 66 180 0 0 1 0 0 MBP 4155 broad.mit.edu 37 18 74728995 74728995 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr18:74728995G>A ENST00000397860.3 - 4 583 c.369C>T c.(367-369)gaC>gaT p.D123D MBP_ENST00000578193.1_5'UTR|MBP_ENST00000397875.3_5'UTR|MBP_ENST00000382582.3_5'UTR|MBP_ENST00000359645.3_5'UTR|MBP_ENST00000397863.1_Silent_p.D123D|MBP_ENST00000526111.1_5'UTR|MBP_ENST00000355994.2_Silent_p.D123D|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000580402.1_Silent_p.D123D|MBP_ENST00000528160.1_5'UTR|MBP_ENST00000397869.3_5'UTR|MBP_ENST00000579129.1_Silent_p.D123D|MBP_ENST00000354542.4_5'UTR|MBP_ENST00000527041.1_5'UTR|MBP_ENST00000397866.4_5'UTR|MBP_ENST00000397865.5_5'UTR NM_001025100.1 NP_001020271.1 P02686 MBP_HUMAN myelin basic protein 123 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) TGGCTGCACTGTCTTCTTGGA 0.592000 13 67 0 0 1 0 0 NXPH1 30010 broad.mit.edu 37 7 8790844 8790844 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:8790844C>T ENST00000405863.1 + 3 1172 c.261C>T c.(259-261)ctC>ctT p.L87L NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 87 II. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) AGCAAGACCTCTGGGACTGGC 0.488000 9 83 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115998159 115998159 + Nonsense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr4:115998159G>A ENST00000264363.2 - 2 712 c.34C>T c.(34-36)Cga>Tga p.R12* NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 12 R -> Q (in dbSNP:rs35181627). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATCAATGTTCGAAAACTTCTC 0.343000 9 23 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51486939 51486939 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chrX:51486939C>T ENST00000340438.4 + 1 459 c.217C>T c.(217-219)Ctg>Ttg p.L73L NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 73 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) GCCGTCCTTCCTGCGGGGCCC 0.667000 5 32 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1688587 1688588 + Frame_Shift_Ins INS - - C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:1688587_1688588insC ENST00000344463.4 - 6 958_959 c.737_738insG c.(736-738)ggcfs p.G246fs NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000342348.5_Intron O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CTCCATGTGCACCCCAGGCCCC 0.634 3 6 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 7 144 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 6 --- --- --- --- DNAJB8 165721 broad.mit.edu 37 3 128181788 128181788 + Frame_Shift_Del DEL G G - TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr3:128181788delG ENST00000469083.1 - 2 2858 c.301delC c.(301-303)ggfs p.R101fs DNAJB8_ENST00000319153.3_Frame_Shift_Del_p.R101fs Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 101 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) AAAAACTCCCGGAAGATGTCC 0.632 30 135 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140453134 140453136 + In_Frame_Del DEL TCA TCA - rs121913377 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr7:140453134_140453136delTCA ENST00000288602.6 - 15 1859_1861 c.1799_1801delTGA c.(1798-1803)gaa>g p.VK600del 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.K601E(40)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600V(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) CATCGAGATTTCACTGTAGCTAG 0.374 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 79 94 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372914 74372914 + RNA DEL G G - rs67181940 TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr16:74372914delG ENST00000429810.2 - 0 1404 AACGTAGtttgtttttttttt 0.433 3 6 --- --- --- --- SNORD3A 780851 broad.mit.edu 37 17 19091424 19091425 + RNA INS - - T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr17:19091424_19091425insT ENST00000365494.1 + 0 96_97 gagaggtagcgttttctcctga 0.490 9 763 --- --- --- --- NFATC2 4773 broad.mit.edu 37 20 50092010 50092010 + Frame_Shift_Del DEL T T - TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe40eec7-bcd2-4fcb-9c98-ef11596cab32 34579f1f-989c-4c25-b854-1d4f3948defb g.chr20:50092010delT ENST00000371564.3 - 4 1739 c.1520delA c.(1519-1521)acfs p.N508fs NFATC2_ENST00000414705.1_Frame_Shift_Del_p.N488fs|NFATC2_ENST00000396009.3_Frame_Shift_Del_p.N508fs NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 508 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCTCATGTTGTTTTTGGGCTC 0.572 9 239 --- --- --- ---