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 LRRC7 57554 broad.mit.edu 37 1 70503805 70503805 + Silent SNP A A T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:70503805A>T ENST00000310961.5 + 22 2617 c.2199A>T c.(2197-2199)ccA>ccT p.P733P LRRC7_ENST00000415775.2_Silent_p.P12P|LRRC7_ENST00000035383.5_Silent_p.P728P Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 728 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GGATTGCACCATCTTTCCCAC 0.512000 31 71 0 0 0.000409698 0 0 INTS5 80789 broad.mit.edu 37 11 62416686 62416686 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:62416686G>A ENST00000330574.2 - 2 918 c.866C>T c.(865-867)cCc>cTc p.P289L NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 289 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 GGCAATCTTGGGCACCCGTTT 0.597000 13 15 0 0 0.000219431 0 0 GRTP1 79774 broad.mit.edu 37 13 113999219 113999219 + Missense_Mutation SNP G G T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr13:113999219G>T ENST00000375430.4 - 5 567 c.521C>A c.(520-522)tCt>tAt p.S174Y GRTP1_ENST00000326039.3_Missense_Mutation_p.S96Y|GRTP1_ENST00000375431.4_Missense_Mutation_p.S174Y Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 174 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) CAGCCAAAAAGATTCTTCTTC 0.353000 24 21 7.01153e-11 7.73467e-10 0.000184323 1 0 PLVAP 83483 broad.mit.edu 37 19 17476311 17476311 + Silent SNP C C T rs150210307 TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:17476311C>T ENST00000252590.4 - 3 1024 c.963G>A c.(961-963)gcG>gcA p.A321A NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 321 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCTTCTGTTTCGCCTCCTGAC 0.667000 15 18 0 0 0.000219431 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480554 140480554 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:140480554G>A ENST00000231130.2 + 1 321 c.321G>A c.(319-321)caG>caA p.Q107Q AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 107 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACATTTTCAGATATTACTGC 0.418000 32 40 0 0 0.000279167 0 0 ZNF563 147837 broad.mit.edu 37 19 12429881 12429881 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:12429881G>A ENST00000293725.5 - 4 1163 c.958C>T c.(958-960)Cat>Tat p.H320Y NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CTTCCAAGATGATGAAATGTT 0.438000 19 54 0 0 0.000958276 0 0 OR14A16 284532 broad.mit.edu 37 1 247978742 247978742 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:247978742G>A ENST00000357627.1 - 1 289 c.290C>T c.(289-291)tCc>tTc p.S97F NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 AAAGACCTGGGAAACACAGCC 0.453000 10 28 0 0 0.000673444 0 0 SHANK2 22941 broad.mit.edu 37 11 70336347 70336347 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:70336347G>A ENST00000409530.1 - 8 817 c.818C>T c.(817-819)cCc>cTc p.P273L SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.P264L|SHANK2_ENST00000449833.2_Intron|SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000409161.1_Intron|SHANK2_ENST00000357171.3_Missense_Mutation_p.P274L Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 0 PDZ. 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) AAAGCCCAGGGGCAACTTCTG 0.602000 10 16 0 0 0.000442599 0 0 CPED1 79974 broad.mit.edu 37 7 120780953 120780953 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:120780953C>T ENST00000310396.5 + 15 2239 c.1772C>T c.(1771-1773)cCa>cTa p.P591L CPED1_ENST00000450913.2_Missense_Mutation_p.P591L|CPED1_ENST00000423795.1_Missense_Mutation_p.P371L NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GACTTTCATCCAAAGATCAAA 0.378000 12 35 0 0 0.000978159 0 0 POMGNT2 84892 broad.mit.edu 37 3 43122216 43122216 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:43122216G>A ENST00000344697.2 - 2 1053 c.708C>T c.(706-708)ctC>ctT p.L236L GTDC2_ENST00000441964.1_Silent_p.L236L NM_032806.4 NP_116195.2 TGATCTTGGAGAGGCCCACAA 0.602000 22 33 0 0 0.000375601 0 0 R3HDM2 22864 broad.mit.edu 37 12 57660609 57660609 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:57660609G>A ENST00000402412.1 - 19 2426 c.2036C>T c.(2035-2037)tCt>tTt p.S679F RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S360F|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S665F|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S392F|R3HDM2_ENST00000393811.2_Missense_Mutation_p.S392F|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S699F|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S665F Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 665 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AAACCCTACAGAAGGGCTGGG 0.567000 6 7 0 0 8.12818e-05 0 0 CPAMD8 27151 broad.mit.edu 37 19 17119350 17119350 + Missense_Mutation SNP A A C TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:17119350A>C ENST00000443236.1 - 7 696 c.665T>G c.(664-666)aTg>aGg p.M222R CPAMD8_ENST00000388925.4_Missense_Mutation_p.M175R NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 175 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 CCACTCTATCATCCGAGAGCC 0.527000 8 17 0 0 0.000978159 0 0 GLI4 2738 broad.mit.edu 37 8 144351607 144351607 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:144351607C>T ENST00000340042.1 + 2 126 c.41C>T c.(40-42)cCg>cTg p.P14L GLI4_ENST00000517468.1_Missense_Mutation_p.P14L|GLI4_ENST00000344692.3_Missense_Mutation_p.P14L|ZFP41_ENST00000522452.1_Intron|GLI4_ENST00000523522.1_Missense_Mutation_p.P14L|GLI4_ENST00000521682.1_Missense_Mutation_p.P14L NM_138465.3 NP_612474.1 P10075 GLI4_HUMAN GLI family zinc finger 4 14 nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CCTTCTGTCCCGTCCCCTGTC 0.592000 22 46 0 0 0.000295444 0 0 AHNAK 79026 broad.mit.edu 37 11 62294090 62294090 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:62294090G>A ENST00000378024.4 - 5 8073 c.7799C>T c.(7798-7800)tCt>tTt p.S2600F AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2600 nervous system development nucleus protein binding p.S2600Y(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTGGGCAGAGAAACATCCAC 0.507000 36 92 0 0 0.00111076 0 0 CDH8 1006 broad.mit.edu 37 16 61858917 61858917 + Splice_Site SNP C C T rs148693252 byFrequency TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr16:61858917C>T ENST00000577390.1 - 5 1788 c.835_splice c.e5+1 p.Q278_splice CDH8_ENST00000299345.6_Splice_Site_p.Q278_splice|CDH8_ENST00000584337.1_Splice_Site_p.Q278_splice|CDH8_ENST00000577730.1_Splice_Site_p.Q278_splice NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 278 Cadherin 3. 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) TTAACTTACTCTGTGCAAATT 0.373000 8 16 0 0 0.000673444 0 0 SLC7A14 57709 broad.mit.edu 37 3 170218993 170218993 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:170218993G>A ENST00000231706.4 - 3 761 c.446C>T c.(445-447)gCc>gTc p.A149V CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 149 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) ACTGGCTCCGGCCGCAGTGCC 0.557000 12 13 0 0 0.000978159 0 0 TNC 3371 broad.mit.edu 37 9 117827167 117827167 + Silent SNP C C A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr9:117827167C>A ENST00000350763.4 - 11 3657 c.3246G>T c.(3244-3246)gtG>gtT p.V1082V TNC_ENST00000340094.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Silent_p.V1082V|TNC_ENST00000346706.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000423613.2_Silent_p.V1082V NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1082 Fibronectin type-III 6. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CAACCTCAGTCACGGTGAGGT 0.512000 10 34 3.07112e-06 3.32531e-05 0.000978159 1 0 TRAV21 28662 broad.mit.edu 37 14 22521085 22521085 + RNA SNP G G A rs147548996 by1000genomes TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:22521085G>A ENST00000390449.3 + 0 113 CCCAGAAGGAGAAAACTTGGT 0.478000 9 36 0 0 0.000673444 0 0 NLRP3 114548 broad.mit.edu 37 1 247587438 247587438 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:247587438G>A ENST00000366497.2 + 4 1473 c.693G>A c.(691-693)ggG>ggA p.G231G NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.G231G|NLRP3_ENST00000391828.3_Silent_p.G231G|NLRP3_ENST00000336119.3_Silent_p.G231G|NLRP3_ENST00000366496.2_Silent_p.G231G|NLRP3_ENST00000391827.2_Silent_p.G231G NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 231 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CAGGGATTGGGAAAACAATCC 0.542000 9 20 0 0 0.000274275 0 0 CHRNA3 1136 broad.mit.edu 37 15 78889060 78889060 + Nonsense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:78889060C>T ENST00000326828.5 - 6 1788 c.1404G>A c.(1402-1404)tgG>tgA p.W468* CHRNA3_ENST00000348639.3_Intron NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 468 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CAACATACTTCCAATCATCTT 0.388000 63 28 0 0 0.000781405 0 0 ANK1 286 broad.mit.edu 37 8 41543692 41543692 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:41543692G>A ENST00000396942.1 - 36 4451 c.4368C>T c.(4366-4368)atC>atT p.I1456I ANK1_ENST00000347528.4_Silent_p.I1456I|ANK1_ENST00000396945.1_Silent_p.I1456I|ANK1_ENST00000289734.7_Silent_p.I1456I|ANK1_ENST00000352337.4_Silent_p.I1456I|ANK1_ENST00000265709.8_Silent_p.I1497I|ANK1_ENST00000379758.2_Silent_p.I1456I P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1456 55 kDa regulatory domain.|Death. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.I1497I(1)|p.I1456I(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGCCTTCACGGATGACCCAGA 0.527000 20 22 0 0 0.000295444 0 0 OR8B4 283162 broad.mit.edu 37 11 124294282 124294282 + Missense_Mutation SNP C C G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:124294282C>G ENST00000356130.3 - 1 507 c.486G>C c.(484-486)atG>atC p.M162I NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TCAGTCGCAGCATGCTTCCAG 0.542000 5 3 0 0 8.12818e-05 0 0 XPO7 23039 broad.mit.edu 37 8 21861515 21861515 + Silent SNP A A G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:21861515A>G ENST00000434536.1 + 27 3273 c.3171A>G c.(3169-3171)cgA>cgG p.R1057R XPO7_ENST00000252512.9_Silent_p.R1048R|XPO7_ENST00000433566.4_Silent_p.R1049R Q9UIA9 XPO7_HUMAN exportin 7 1048 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) GCATCGAGCGAAATCTTCTTA 0.438000 7 18 0 0 0.000157383 0 0 BTNL8 79908 broad.mit.edu 37 5 180377475 180377475 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:180377475C>T ENST00000340184.4 + 8 1640 c.1434C>T c.(1432-1434)atC>atT p.I478I BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Silent_p.I294I|BTNL8_ENST00000505126.1_Silent_p.I271I|BTNL8_ENST00000400707.3_Silent_p.I353I|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Silent_p.I362I NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 478 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) CCTCTGCAATCCCAGAGACAA 0.512000 30 14 0 0 0.000491102 0 0 PAPD7 11044 broad.mit.edu 37 5 6748698 6748698 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:6748698C>T ENST00000230859.6 + 8 960 c.831C>T c.(829-831)gcC>gcT p.A277A NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 277 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 ACAGAGACGCCGAAAGGTAAT 0.522000 33 82 0 0 0.000953801 0 0 PEX5L 51555 broad.mit.edu 37 3 179605529 179605529 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:179605529G>A ENST00000467460.1 - 4 572 c.242C>T c.(241-243)tCc>tTc p.S81F PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.S57F|PEX5L_ENST00000485199.1_Missense_Mutation_p.S46F|PEX5L_ENST00000464614.1_Missense_Mutation_p.S38F|PEX5L_ENST00000392649.3_Missense_Mutation_p.S38F|PEX5L_ENST00000263962.8_Missense_Mutation_p.S79F|PEX5L_ENST00000476138.1_Missense_Mutation_p.S38F|PEX5L_ENST00000472994.1_Missense_Mutation_p.S22F|PEX5L_ENST00000468741.1_5'UTR NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 81 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GTCATCGATGGAGGGACTCAG 0.443000 46 113 0 0 0.000781405 0 0 MRPL1 65008 broad.mit.edu 37 4 78808386 78808386 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr4:78808386G>A ENST00000315567.8 + 5 828 c.499G>A c.(499-501)Gtc>Atc p.V167I MRPL1_ENST00000506674.1_3'UTR NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 167 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 TGCATCAGAGGTCAAAATAGC 0.323000 7 18 0 0 8.12818e-05 0 0 FMNL2 114793 broad.mit.edu 37 2 153399257 153399257 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:153399257G>A ENST00000288670.9 + 3 573 c.206G>A c.(205-207)cGa>cAa p.R69Q NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 69 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 CTGCAGGAACGATTCCAGGTG 0.418000 10 34 0 0 0.000978159 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884573 228884573 + Missense_Mutation SNP C C T rs148914025 TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:228884573C>T ENST00000392056.3 - 7 1043 c.997G>A c.(997-999)Gaa>Aaa p.E333K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E333K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 333 cytoplasm protein binding p.E333K(1) 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) TGTGATTTTTCCATTTGACCT 0.428000 16 47 0 0 0.000308642 0 0 BRF1 2972 broad.mit.edu 37 14 105693013 105693013 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:105693013G>A ENST00000546474.1 - 8 15832 c.873C>T c.(871-873)ccC>ccT p.P291P BRF1_ENST00000551787.1_Silent_p.P87P|BRF1_ENST00000446501.2_Silent_p.P53P|BRF1_ENST00000392557.4_Silent_p.P87P|BRF1_ENST00000379932.4_Silent_p.P87P|BRF1_ENST00000379937.2_Silent_p.P264P|BRF1_ENST00000440513.3_Silent_p.P176P|BRF1_ENST00000327359.3_Silent_p.P176P NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 291 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) TGTACGAGGGGGGGTCGCACT 0.582000 10 24 0 0 0.000442599 0 0 HPCA 3208 broad.mit.edu 37 1 33354742 33354742 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:33354742C>T ENST00000373467.3 + 2 345 c.243C>T c.(241-243)gaC>gaT p.D81D HPCA_ENST00000480118.1_3'UTR NM_002143.2 NP_002134.2 P84074 HPCA_HUMAN hippocalcin 81 EF-hand 2. actin binding|calcium ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) GCACCATAGACTTTCGGGAGT 0.567000 29 46 0 0 0.000491102 0 0 PI4KA 5297 broad.mit.edu 37 22 21159290 21159290 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr22:21159290G>A ENST00000255882.6 - 11 1418 c.1332C>T c.(1330-1332)ctC>ctT p.L444L PI4KA_ENST00000572273.1_Silent_p.L386L NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 386 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCCACACCATGAGGTCCACAC 0.577000 20 29 0 0 0.000878237 0 0 BAGE2 85319 broad.mit.edu 37 21 11039003 11039003 + RNA SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr21:11039003G>A ENST00000470054.1 - 0 1200 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) TCCTTGGTATGAAACATCTTT 0.393000 10 222 0 0 0.000442599 0 0 BFSP1 631 broad.mit.edu 37 20 17495447 17495447 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:17495447G>A ENST00000377873.3 - 3 492 c.453C>T c.(451-453)gcC>gcT p.A151A BFSP1_ENST00000536626.1_Silent_p.A12A|BFSP1_ENST00000377868.2_Silent_p.A26A|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000544874.1_Silent_p.A12A NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 151 Coil 1B.|Rod. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 TATGCAGCAAGGCTTCATCAG 0.522000 15 60 0 0 0.000422831 0 0 DNAH7 56171 broad.mit.edu 37 2 196619217 196619217 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:196619217G>A ENST00000312428.6 - 63 11708 c.11608C>T c.(11608-11610)Cct>Tct p.P3870S DNAH7_ENST00000409063.1_Missense_Mutation_p.P353S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3870 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAGACTGGAGGAGGACCAACC 0.453000 9 11 0 0 0.000978159 0 0 EPHB2 2048 broad.mit.edu 37 1 23235526 23235526 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:23235526C>T ENST00000400191.3 + 13 2382 c.2364C>T c.(2362-2364)atC>atT p.I788I EPHB2_ENST00000374627.1_Silent_p.I783I|EPHB2_ENST00000374630.3_Silent_p.I788I|EPHB2_ENST00000374632.3_Silent_p.I789I NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 788 Protein kinase. I -> F (in Ref. 5; AAA74244). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GCGGAAAGATCCCCATCCGCT 0.592000 9 14 0 0 0.000274275 0 0 STMN2 11075 broad.mit.edu 37 8 80553691 80553691 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:80553691C>T ENST00000220876.7 + 3 576 c.194C>T c.(193-195)tCa>tTa p.S65L STMN2_ENST00000518111.1_Missense_Mutation_p.S65L|STMN2_ENST00000518491.1_Missense_Mutation_p.S54L NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 65 Regulatory/phosphorylation domain (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) TCTCCTATCTCAGAAGCCCCA 0.458000 17 31 0 0 0.000566183 0 0 CACNA1D 776 broad.mit.edu 37 3 53694300 53694300 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:53694300C>T ENST00000288139.3 + 5 882 c.764C>T c.(763-765)cCc>cTc p.P255L CACNA1D_ENST00000350061.5_Missense_Mutation_p.P255L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P255L NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 255 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) TCAGGAGTGCCCAGTAAGCAC 0.517000 11 21 0 0 0.00010058 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C A rs121913500 TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:209113112C>A ENST00000415913.1 - 4 776 c.395G>T c.(394-396)cGt>cTt p.R132L IDH1_ENST00000446179.1_Missense_Mutation_p.R132L|IDH1_ENST00000345146.2_Missense_Mutation_p.R132L O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 16 22 9.16793e-09 1.00504e-07 0.000566183 1 0 MEGF11 84465 broad.mit.edu 37 15 66263027 66263027 + Splice_Site SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:66263027C>T ENST00000409699.2 - 8 935 c.762_splice c.e8-1 p.G255_splice MEGF11_ENST00000360698.4_Splice_Site_p.G255_splice|MEGF11_ENST00000288745.3_Splice_Site_p.G180_splice|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000395625.2_Splice_Site_p.G180_splice|MEGF11_ENST00000422354.1_Splice_Site_p.G255_splice A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 255 EGF-like 4. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 CACACTGCTCCCTAAAAGAAA 0.582000 14 7 0 0 0.000566183 0 0 RYR3 6263 broad.mit.edu 37 15 34153323 34153323 + Silent SNP A A G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:34153323A>G ENST00000389232.4 + 102 14479 c.14409A>G c.(14407-14409)acA>acG p.T4803T RP11-3D4.2_ENST00000560268.1_RNA|RYR3_ENST00000415757.3_Silent_p.T4798T NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4803 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.T4802T(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACTTTGACACAACCCCTCATG 0.383000 13 10 0 0 0.000219431 0 0 CCDC74B 91409 broad.mit.edu 37 2 130897892 130897892 + Nonsense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:130897892G>A ENST00000392984.3 - 4 1785 c.1042C>T c.(1042-1044)Cag>Tag p.Q348* CCDC74B_ENST00000310463.6_Nonsense_Mutation_p.Q246*|CCDC74B_ENST00000409943.3_Nonsense_Mutation_p.Q180* Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 246 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) CCCTGGTGCTGGCTGTTCCCC 0.612000 28 45 0 0 0.000409698 0 0 OR1I1 126370 broad.mit.edu 37 19 15198755 15198755 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:15198755G>A ENST00000209540.2 + 1 965 c.879G>A c.(877-879)cgG>cgA p.R293R NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 ACAGCATACGGAACAAGGATA 0.542000 14 35 0 0 0.000422831 0 0 MUC3A 4584 broad.mit.edu 37 7 100551777 100551777 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:100551777C>T ENST00000319509.7 + 1 528 c.528C>T c.(526-528)atC>atT p.I176I mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TGAGCACGATCGTGTCAACAT 0.473000 89 290 0 0 0.000781405 0 0 OR1M1 125963 broad.mit.edu 37 19 9204819 9204819 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:9204819C>T ENST00000429566.3 + 1 965 c.899C>T c.(898-900)gCt>gTt p.A300V NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CTGAAAGGGGCTCTCAGGAAG 0.512000 6 22 0 0 8.12818e-05 0 0 CFAP54 144535 broad.mit.edu 37 12 97043713 97043713 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:97043713G>A ENST00000524981.3 + 2 88 c.88G>A c.(88-90)Gaa>Aaa p.E30K Q6ZTY8 CL063_HUMAN 4 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AATGAGTGATGAAAATATGTC 0.318000 16 31 0 0 0.000132079 0 0 CNTN5 53942 broad.mit.edu 37 11 99941237 99941237 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:99941237G>A ENST00000524871.1 + 11 1534 c.1244G>A c.(1243-1245)gGa>gAa p.G415E CNTN5_ENST00000527185.1_Missense_Mutation_p.G415E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G341E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G415E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G415E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 415 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAGGCTACTGGAAAACCCAGA 0.473000 8 14 0 0 0.000274275 0 0 ELP5 23587 broad.mit.edu 37 17 7156241 7156241 + Nonsense_Mutation SNP G G T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:7156241G>T ENST00000574993.1 + 3 377 c.160G>T c.(160-162)Gag>Tag p.E54* ELP5_ENST00000356683.2_Nonsense_Mutation_p.E54*|ELP5_ENST00000354429.2_Nonsense_Mutation_p.E54*|ELP5_ENST00000574255.1_Nonsense_Mutation_p.E54*|ELP5_ENST00000396628.2_Nonsense_Mutation_p.E54*|ELP5_ENST00000396627.2_Nonsense_Mutation_p.E54*|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000573657.1_Nonsense_Mutation_p.E54* elongator acetyltransferase complex subunit 5 CCTTAGTGGGGAGCAAGTGCA 0.507000 6 83 0.000274275 0.0029516 0.000274275 1 0 SPTB 6710 broad.mit.edu 37 14 65252635 65252635 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:65252635G>A ENST00000389722.3 - 16 3649 c.3596C>T c.(3595-3597)tCc>tTc p.S1199F SPTB_ENST00000556626.1_Missense_Mutation_p.S1199F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1199F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1199F|SPTB_ENST00000389721.5_Missense_Mutation_p.S1199F NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1199 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.S1199C(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AGCTTCCAGGGAGTCTGGGGG 0.532000 11 63 0 0 0.000219431 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123476185 123476185 + Splice_Site SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:123476185C>T ENST00000529750.1 + 9 1220 c.894_splice c.e9+1 p.S298_splice GRAMD1B_ENST00000322282.7_Splice_Site_p.S298_splice|GRAMD1B_ENST00000456860.2_Splice_Site_p.S305_splice NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 298 integral to membrane p.S298*(2) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GCCCCCGTCTCGGTATGGGCA 0.562000 13 48 0 0 0.000422831 0 0 PRRC2A 7916 broad.mit.edu 37 6 31604379 31604379 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:31604379C>T ENST00000376033.2 + 27 6162 c.5928C>T c.(5926-5928)gcC>gcT p.A1976A PRRC2A_ENST00000376007.4_Silent_p.A1976A NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1976 3 X 50 AA type C repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GGGCTCCTGCCCAGCAGGTAT 0.522000 22 111 0 0 0.000229342 0 0 GLUD2 2747 broad.mit.edu 37 X 120182576 120182576 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chrX:120182576G>A ENST00000328078.1 + 1 1115 c.1038G>A c.(1036-1038)aaG>aaA p.K346K NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 346 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) TTGACCCAAAGGAACTGGAAG 0.448000 20 65 0 0 0.000229342 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37433940 37433940 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:37433940G>A ENST00000374660.1 + 8 1342 c.1243G>A c.(1243-1245)Gaa>Aaa p.E415K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E415K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E415K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 471 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTTCCCATCAGAATCCAAACA 0.254000 11 58 0 0 0.000219431 0 0 IGSF10 285313 broad.mit.edu 37 3 151163919 151163919 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:151163919G>A ENST00000282466.3 - 4 3849 c.3850C>T c.(3850-3852)Cca>Tca p.P1284S 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 1284 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) TTCTTTGTTGGAAGACTTCCA 0.428000 31 54 0 0 0.000409698 0 0 WDR49 151790 broad.mit.edu 37 3 167245717 167245717 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:167245717G>A ENST00000308378.3 - 11 1744 c.1439C>T c.(1438-1440)tCc>tTc p.S480F WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.S305F|WDR49_ENST00000453925.2_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 480 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CATCTCTAAGGAACTTATTCG 0.448000 19 34 0 0 0.00074312 0 0 FAT3 120114 broad.mit.edu 37 11 92087287 92087287 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:92087287C>T ENST00000298047.6 + 1 2026 c.2009C>T c.(2008-2010)tCa>tTa p.S670L FAT3_ENST00000409404.2_Missense_Mutation_p.S670L|FAT3_ENST00000525166.1_Missense_Mutation_p.S520L|FAT3_ENST00000541502.1_Missense_Mutation_p.S670L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 670 Cadherin 6. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTAACATTTCAGTCCTACAT 0.403000 TCGA Ovarian(4;0.039) 133 264 0 0 0.000781405 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800682 185800682 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:185800682C>T ENST00000302277.6 + 4 1153 c.559C>T c.(559-561)Cca>Tca p.P187S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 187 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGCTGAAGATCCAGAAAGTGC 0.363000 6 22 0 0 8.12818e-05 0 0 LRRC30 339291 broad.mit.edu 37 18 7231222 7231222 + Missense_Mutation SNP C C A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr18:7231222C>A ENST00000383467.2 + 1 100 c.86C>A c.(85-87)cCg>cAg p.P29Q NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 29 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 AAGTTTTCTCCGTGGGACGAT 0.612000 20 20 8.34094e-07 9.08723e-06 0.000132079 1 0 PRKCH 5583 broad.mit.edu 37 14 61789030 61789030 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:61789030G>A ENST00000332981.5 + 1 596 c.211G>A c.(211-213)Gag>Aag p.E71K RP11-902B17.1_ENST00000500036.2_RNA NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 71 C2. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GTACAACGAGGAGTTTTGCGC 0.632000 10 13 0 0 0.00010058 0 0 PTPN6 5777 broad.mit.edu 37 12 7063977 7063977 + Silent SNP T T C TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:7063977T>C ENST00000456013.1 + 4 578 c.336T>C c.(334-336)caT>caC p.H112H PTPN6_ENST00000399448.1_Silent_p.H114H|PTPN6_ENST00000318974.9_Silent_p.H112H|PTPN6_ENST00000447931.2_Silent_p.H73H NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 112 SH2 2. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 GGTGGTACCATGGCCACATGT 0.622000 12 19 0 0 0.000151284 0 0 OR2M3 127062 broad.mit.edu 37 1 248366886 248366886 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:248366886G>A ENST00000456743.1 + 1 555 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGGTCTCGGGAAATAGCCCA 0.418000 51 88 0 0 0.000781405 0 0 ALK 238 broad.mit.edu 37 2 29432682 29432682 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:29432682C>T ENST00000389048.3 - 25 4712 c.3806G>A c.(3805-3807)gGa>gAa p.G1269E ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1269 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCCGAAGTCTCCAATCTTGGC 0.542000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 24 34 0 0 0.000184323 0 0 CCDC66 285331 broad.mit.edu 37 3 56605266 56605266 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:56605266C>T ENST00000394672.3 + 7 942 c.872C>T c.(871-873)cCt>cTt p.P291L CCDC66_ENST00000326595.7_Missense_Mutation_p.P257L|CCDC66_ENST00000436465.2_Missense_Mutation_p.P291L NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 291 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TGGAATGATCCTTGGAAAAAA 0.264000 26 51 0 0 0.000878237 0 0 TRIM27 5987 broad.mit.edu 37 6 28872083 28872083 + Missense_Mutation SNP C C A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:28872083C>A ENST00000377199.3 - 8 1662 c.1306G>T c.(1306-1308)Gtg>Ttg p.V436L TRIM27_ENST00000377194.3_Intron NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 436 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 AAAATCCCCACCCGCTGGAGC 0.532000 T RET papillary thyroid 97 27 9.99625e-28 1.10619e-26 0.000781405 1 0 TTN 7273 broad.mit.edu 37 2 179597846 179597846 + Nonsense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:179597846G>A ENST00000589042.1 - 55 16281 c.16057C>T c.(16057-16059)Cga>Tga p.R5353* TTN_ENST00000591111.1_Nonsense_Mutation_p.R5036*|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R4109*|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5036 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) GCAATGTCTCGATCTGTGTGT 0.443000 9 10 0 0 0.000274275 0 0 SPTB 6710 broad.mit.edu 37 14 65252634 65252634 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:65252634G>A ENST00000389722.3 - 16 3650 c.3597C>T c.(3595-3597)tcC>tcT p.S1199S SPTB_ENST00000556626.1_Silent_p.S1199S|SPTB_ENST00000542895.1_Silent_p.S1199S|SPTB_ENST00000389720.3_Silent_p.S1199S|SPTB_ENST00000389721.5_Silent_p.S1199S NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1199 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CAGCTTCCAGGGAGTCTGGGG 0.532000 10 62 0 0 0.000151284 0 0 CD109 135228 broad.mit.edu 37 6 74472164 74472164 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:74472164C>T ENST00000437994.2 + 8 1247 c.816C>T c.(814-816)tcC>tcT p.S272S CD109_ENST00000287097.5_Silent_p.S272S|CD109_ENST00000422508.2_Silent_p.S195S NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 272 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TACCTTTATCCTTTTGGGGAA 0.289000 5 70 0 0 3.59834e-05 0 0 EPHA1 2041 broad.mit.edu 37 7 143092274 143092274 + Splice_Site SNP T T A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:143092274T>A ENST00000275815.3 - 13 2171 c.2083_splice c.e13-1 p.R695_splice NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 695 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) TGATCGGCTTTCCTGAGACAC 0.557000 38 45 0 0 0.00111076 0 0 HERC2P9 440248 broad.mit.edu 37 15 28900554 28900554 + RNA SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:28900554C>T ENST00000528584.1 + 0 150 NR_036443.1 CTCTGACGTGCCGTTACTCAG 0.572000 6 25 0 0 3.59834e-05 0 0 LRCH4 4034 broad.mit.edu 37 7 100179429 100179429 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:100179429C>T ENST00000310300.6 - 4 621 c.569G>A c.(568-570)cGg>cAg p.R190Q LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 190 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTGGTTCCTCCGGACATTGAG 0.577000 11 33 0 0 0.000151284 0 0 BRPF3 27154 broad.mit.edu 37 6 36169209 36169209 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:36169209C>T ENST00000357641.6 + 2 1363 c.1110C>T c.(1108-1110)ctC>ctT p.L370L BRPF3_ENST00000534694.1_Silent_p.L370L|BRPF3_ENST00000534400.1_Silent_p.L370L|BRPF3_ENST00000443324.2_Silent_p.L370L|BRPF3_ENST00000339717.7_Silent_p.L370L|BRPF3_ENST00000543502.1_Silent_p.L370L NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 370 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 AAACCAGCCTCAATGGCACCA 0.572000 33 10 0 0 0.000692331 0 0 OAS3 4940 broad.mit.edu 37 12 113386841 113386841 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:113386841C>T ENST00000228928.7 + 6 1384 c.1205C>T c.(1204-1206)cCg>cTg p.P402L RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 402 Linker. 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 CCCTCTGTGCCGGGAATGGCC 0.622000 4 18 0 0 3.59834e-05 0 0 HSPA12B 116835 broad.mit.edu 37 20 3728871 3728871 + Missense_Mutation SNP T T C TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:3728871T>C ENST00000254963.2 + 8 828 c.683T>C c.(682-684)cTa>cCa p.L228P HSPA12B_ENST00000542646.1_Missense_Mutation_p.L62P NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 228 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 CAGGCTGGACTAGTGTCCCGA 0.657000 13 33 0 0 0.000422831 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995730 57995730 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:57995730G>A ENST00000316770.2 - 1 660 c.618C>T c.(616-618)gtC>gtT p.V206V NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 206 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) GGATGCTCACGACATAGAGGA 0.627000 6 25 0 0 3.59834e-05 0 0 TJP3 27134 broad.mit.edu 37 19 3746033 3746033 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:3746033C>T ENST00000541714.2 + 16 2426 c.1964C>T c.(1963-1965)cCc>cTc p.P655L TJP3_ENST00000587686.1_Missense_Mutation_p.P674L|TJP3_ENST00000589378.1_Missense_Mutation_p.P664L|TJP3_ENST00000262968.9_Missense_Mutation_p.P688L|TJP3_ENST00000382008.3_Missense_Mutation_p.P669L|TJP3_ENST00000539908.2_Missense_Mutation_p.P619L NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 669 Guanylate kinase-like. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) ACCGACAGCCCCTCCAAGATC 0.592000 4 5 0 0 0.000602214 0 0 SPINK13 153218 broad.mit.edu 37 5 147653930 147653930 + Missense_Mutation SNP T T A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:147653930T>A ENST00000512953.1 + 4 622 c.91T>A c.(91-93)Ttc>Atc p.F31I SPINK13_ENST00000398450.4_Missense_Mutation_p.F31I|SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA Q1W4C9 ISK13_HUMAN serine peptidase inhibitor, Kazal type 13 (putative) 31 extracellular region serine-type endopeptidase inhibitor activity breast(2)|lung(3) 5 TAAACGTGACTTCACTAGGTG 0.343000 45 96 0 0 0.000781405 0 0 LLGL2 3993 broad.mit.edu 37 17 73559526 73559526 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:73559526C>T ENST00000392550.3 + 8 925 c.808C>T c.(808-810)Cgc>Tgc p.R270C LLGL2_ENST00000577200.1_Missense_Mutation_p.R270C|LLGL2_ENST00000578363.1_Missense_Mutation_p.R270C|LLGL2_ENST00000375227.4_Missense_Mutation_p.R270C|LLGL2_ENST00000167462.5_Missense_Mutation_p.R270C NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 270 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AGAGCCCCTCCGCAGCCTCGT 0.652000 10 21 0 0 0.00010058 0 0 ADAM12 8038 broad.mit.edu 37 10 127760116 127760116 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:127760116G>A ENST00000368679.4 - 12 1571 c.1262C>T c.(1261-1263)tCt>tTt p.S421F ADAM12_ENST00000368676.4_Missense_Mutation_p.S421F NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 421 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GCCCCCGAAAGACTCCCTGAC 0.532000 33 46 0 0 0.000491102 0 0 RPL36AL 6166 broad.mit.edu 37 14 50085802 50085802 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:50085802G>A ENST00000298289.6 - 2 180 c.21C>T c.(19-21)acC>acT p.T7T NM_001001.4 NP_000992.1 Q969Q0 RL36L_HUMAN ribosomal protein L36a-like 7 translation ribosome structural constituent of ribosome all_epithelial(31;0.0021)|Breast(41;0.0124) AGGTTCTTCGGGTTTTAGGTA 0.413000 10 53 0 0 0.000673444 0 0 EEF1A2 1917 broad.mit.edu 37 20 62121960 62121960 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:62121960C>T ENST00000217182.3 - 6 1066 c.901G>A c.(901-903)Gaa>Aaa p.E301K EEF1A2_ENST00000298049.7_Missense_Mutation_p.E301K NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 301 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GGCAGAGCTTCGCTCAGAGCC 0.622000 22 28 0 0 0.000375601 0 0 EPHB1 2047 broad.mit.edu 37 3 134670598 134670598 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:134670598G>A ENST00000398015.3 + 3 879 c.509G>A c.(508-510)cGg>cAg p.R170Q EPHB1_ENST00000488154.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 170 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.R170L(4) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CCTCTTACTCGGAATGGTTTT 0.463000 55 108 0 0 0.000781405 0 0 DNM3 26052 broad.mit.edu 37 1 172100389 172100389 + Silent SNP C C G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:172100389C>G ENST00000358155.4 + 14 1796 c.1620C>G c.(1618-1620)gtC>gtG p.V540V DNM3_ENST00000520906.1_Silent_p.V540V|DNM3_ENST00000367731.1_Silent_p.V540V|DNM3_ENST00000355305.5_Silent_p.V550V|DNM3_ENST00000367733.2_Silent_p.V540V NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 550 PH. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 ACTGGTTCGTCCTTACTGCGG 0.423000 9 24 0 0 0.000673444 0 0 KIAA1737 85457 broad.mit.edu 37 14 77579932 77579932 + Silent SNP G G T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:77579932G>T ENST00000361786.2 + 4 788 c.471G>T c.(469-471)ctG>ctT p.L157L RP11-463C8.4_ENST00000557752.1_Intron NM_033426.2 NP_219494.2 Q9C0C6 K1737_HUMAN KIAA1737 157 endometrium(2)|lung(4)|prostate(3) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) TGCCCATTCTGAATTCTTACA 0.478000 17 27 2.94398e-08 3.21735e-07 0.000958276 1 0 ZMYM3 9203 broad.mit.edu 37 X 70469396 70469396 + Missense_Mutation SNP G G A rs138633030 TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chrX:70469396G>A ENST00000373998.1 - 7 2082 c.1385C>T c.(1384-1386)aCc>aTc p.T462I ZMYM3_ENST00000314425.5_Missense_Mutation_p.T462I|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T464I|ZMYM3_ENST00000373981.1_Missense_Mutation_p.T462I|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.T464I|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.T464I|ZMYM3_ENST00000353904.2_Missense_Mutation_p.T462I NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 462 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) AGGACTCCCGGTCTTGGTGTA 0.577000 4 4 0 0 0.00024832 0 0 WDR49 151790 broad.mit.edu 37 3 167246922 167246922 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:167246922G>A ENST00000308378.3 - 10 1573 c.1268C>T c.(1267-1269)tCg>tTg p.S423L WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.S248L|WDR49_ENST00000453925.2_Missense_Mutation_p.S487L NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 423 p.S423W(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CATAATAATCGATCCAACTCC 0.363000 23 26 0 0 0.000586117 0 0 NEDD4L 23327 broad.mit.edu 37 18 55996240 55996240 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr18:55996240G>A ENST00000456986.1 + 10 931 c.331G>A c.(331-333)Gag>Aag p.E111K NEDD4L_ENST00000456173.2_Missense_Mutation_p.E111K|NEDD4L_ENST00000586263.1_Missense_Mutation_p.E224K|NEDD4L_ENST00000256832.7_Missense_Mutation_p.E111K|NEDD4L_ENST00000400345.3_Missense_Mutation_p.E232K|NEDD4L_ENST00000382850.4_Missense_Mutation_p.E232K|NEDD4L_ENST00000431212.2_Missense_Mutation_p.E111K|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.E232K|NEDD4L_ENST00000435432.2_Missense_Mutation_p.E111K|NEDD4L_ENST00000357895.5_Missense_Mutation_p.E224K|NEDD4L_ENST00000256830.9_Missense_Mutation_p.E232K NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 232 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 CGTGTCCTCGGAGTCGGACAA 0.587000 8 16 0 0 0.000442599 0 0 DMTN 2039 broad.mit.edu 37 8 21938900 21938900 + Missense_Mutation SNP A A T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:21938900A>T ENST00000358242.3 + 16 1637 c.1144A>T c.(1144-1146)Atg>Ttg p.M382L DMTN_ENST00000517600.1_Missense_Mutation_p.M342L|DMTN_ENST00000523782.2_Missense_Mutation_p.M335L|DMTN_ENST00000265800.5_Missense_Mutation_p.M382L|DMTN_ENST00000415253.1_Missense_Mutation_p.M360L|DMTN_ENST00000523266.1_Missense_Mutation_p.M382L|DMTN_ENST00000432128.1_Missense_Mutation_p.M382L|DMTN_ENST00000381470.3_Missense_Mutation_p.M360L|DMTN_ENST00000443491.2_Missense_Mutation_p.M335L|DMTN_ENST00000519907.1_Missense_Mutation_p.M360L dematin actin binding protein GGTATTTGCCATGTCCCCTGA 0.602000 29 41 0 0 0.000491102 0 0 FAM110C 642273 broad.mit.edu 37 2 41615 41615 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:41615G>A ENST00000327669.4 - 2 958 c.959C>T c.(958-960)tCc>tTc p.S320F FAM110C_ENST00000460464.1_5'UTR NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 320 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) TCATCATCGGGAAGGTTTGCT 0.408000 19 32 0 0 0.000132079 0 0 NLRP13 126204 broad.mit.edu 37 19 56423937 56423937 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:56423937C>T ENST00000588751.1 - 5 1270 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K NLRP13_ENST00000342929.3_Missense_Mutation_p.E416K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 416 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AAGAGAGTTTCGTTTTTTCTT 0.463000 6 20 0 0 3.59834e-05 0 0 ITIH2 3698 broad.mit.edu 37 10 7745421 7745421 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:7745421C>T ENST00000358415.4 + 1 190 c.24C>T c.(22-24)ttC>ttT p.F8F ITIH2_ENST00000379587.4_Silent_p.F8F|ITIH2_ENST00000480387.1_3'UTR NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 8 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CGTGCTTTTTCATCTGCTTCT 0.428000 15 59 0 0 0.000566183 0 0 ANGPT4 51378 broad.mit.edu 37 20 858863 858863 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:858863G>A ENST00000381922.3 - 7 1263 c.1161C>T c.(1159-1161)ggC>ggT p.G387G ANGPT4_ENST00000546022.1_Silent_p.G387G NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 387 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 AGGCCTCGTGGCCTTCCCAGT 0.622000 7 15 0 0 8.12818e-05 0 0 STAG1 10274 broad.mit.edu 37 3 136196211 136196211 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:136196211C>T ENST00000383202.2 - 10 1202 c.946G>A c.(946-948)Gga>Aga p.G316R STAG1_ENST00000434713.2_Missense_Mutation_p.G90R|STAG1_ENST00000236698.5_Missense_Mutation_p.G316R NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 316 SCD. cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 ATCCATACTCCAATTTCTTCA 0.343000 21 40 0 0 0.000229342 0 0 NLRP1 22861 broad.mit.edu 37 17 5461774 5461774 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:5461774C>T ENST00000345221.3 - 4 2796 c.2242G>A c.(2242-2244)Gac>Aac p.D748N NLRP1_ENST00000269280.4_Missense_Mutation_p.D748N|NLRP1_ENST00000577119.1_Missense_Mutation_p.D748N|NLRP1_ENST00000354411.3_Missense_Mutation_p.D748N|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.D748N|NLRP1_ENST00000572272.1_Missense_Mutation_p.D748N NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 748 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) AGCTCCATGTCTGTTTCTACA 0.502000 25 55 0 0 0.000279167 0 0 GPLD1 2822 broad.mit.edu 37 6 24448238 24448238 + Nonsense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:24448238C>T ENST00000230036.1 - 17 1655 c.1545G>A c.(1543-1545)tgG>tgA p.W515* NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 515 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CCAAGAGAGTCCAGCCCAAGT 0.512000 10 96 0 0 0.000219431 0 0 PEX5L 51555 broad.mit.edu 37 3 179605528 179605528 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:179605528G>A ENST00000467460.1 - 4 573 c.243C>T c.(241-243)tcC>tcT p.S81S PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.S57S|PEX5L_ENST00000485199.1_Silent_p.S46S|PEX5L_ENST00000464614.1_Silent_p.S38S|PEX5L_ENST00000392649.3_Silent_p.S38S|PEX5L_ENST00000263962.8_Silent_p.S79S|PEX5L_ENST00000476138.1_Silent_p.S38S|PEX5L_ENST00000472994.1_Silent_p.S22S|PEX5L_ENST00000468741.1_5'UTR NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 81 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) AGTCATCGATGGAGGGACTCA 0.443000 46 117 0 0 0.000781405 0 0 TAOK3 51347 broad.mit.edu 37 12 118650786 118650786 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:118650786C>T ENST00000392533.3 - 11 1242 c.752G>A c.(751-753)aGg>aAg p.R251K TAOK3_ENST00000419821.2_Missense_Mutation_p.R251K NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 251 Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACAAATCTCCTAAAGGAGTC 0.363000 10 22 0 0 0.000673444 0 0 TRAV26-2 28656 broad.mit.edu 37 14 22671127 22671127 + RNA SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:22671127G>A ENST00000390460.1 + 0 192 CAGAGTACGTGATTCATGGTC 0.478000 8 26 0 0 0.000157383 0 0 CCDC178 374864 broad.mit.edu 37 18 30950152 30950152 + Splice_Site SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr18:30950152C>T ENST00000383096.3 - 6 392 c.208_splice c.e6-1 p.G70_splice CCDC178_ENST00000403303.1_Splice_Site_p.G70_splice|CCDC178_ENST00000402325.1_Splice_Site_p.G70_splice|CCDC178_ENST00000579916.1_Splice_Site_p.G70_splice|CCDC178_ENST00000583930.1_Splice_Site_p.G70_splice|CCDC178_ENST00000579947.1_Splice_Site_p.G70_splice|CCDC178_ENST00000406524.2_Splice_Site_p.G70_splice|CCDC178_ENST00000300227.8_Splice_Site_p.G70_splice coiled-coil domain containing 178 CTTTATTCACCCCTAAAGAGA 0.343000 7 9 0 0 8.12818e-05 0 0 SGK2 10110 broad.mit.edu 37 20 42196349 42196349 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:42196349G>A ENST00000373100.1 + 5 591 c.131G>A c.(130-132)gGg>gAg p.G44E SGK2_ENST00000423407.3_Missense_Mutation_p.G44E|SGK2_ENST00000341458.4_Missense_Mutation_p.G104E|SGK2_ENST00000373092.3_Missense_Mutation_p.G44E|SGK2_ENST00000426287.1_Missense_Mutation_p.G70E|SGK2_ENST00000373077.1_Missense_Mutation_p.G44E Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 104 intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ATCGGCAAAGGGAACTACGGG 0.552000 15 27 0 0 0.000566183 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515317 140515317 + Missense_Mutation SNP C C G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:140515317C>G ENST00000231134.5 + 1 518 c.301C>G c.(301-303)Ccc>Gcc p.P101A NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 101 Cadherin 1. 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) GGCGACAGAACCCTGTATATT 0.433000 8 55 0 0 0.000274275 0 0 CYP2C8 1558 broad.mit.edu 37 10 96798747 96798747 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:96798747C>T ENST00000371270.3 - 8 1292 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K CYP2C8_ENST00000535898.1_Missense_Mutation_p.E298K NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 400 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) TTAGGAAATTCTTTGTCATCA 0.383000 19 22 0 0 0.000132079 0 0 ABCB5 340273 broad.mit.edu 37 7 20721180 20721180 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:20721180G>A ENST00000404938.2 + 15 2412 c.1760G>A c.(1759-1761)cGa>cAa p.R587Q ABCB5_ENST00000258738.6_Missense_Mutation_p.R142Q NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 142 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.R142Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TCTACTATTCGAAGTGCAGAT 0.403000 9 24 0 0 0.000442599 0 0 CR2 1380 broad.mit.edu 37 1 207640158 207640158 + Missense_Mutation SNP T T G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:207640158T>G ENST00000367057.3 + 2 535 c.346T>G c.(346-348)Ttt>Gtt p.F116V CR2_ENST00000367059.3_Missense_Mutation_p.F116V|CR2_ENST00000367058.3_Missense_Mutation_p.F116V|CR2_ENST00000458541.2_Missense_Mutation_p.F116V NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 116 Sushi 2. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TTCTGTGACATTTGCCTGTAA 0.428000 8 28 0 0 0.000274275 0 0 LDLRAD4 753 broad.mit.edu 37 18 13645128 13645128 + Silent SNP C C A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr18:13645128C>A ENST00000361205.4 + 7 1061 c.393C>A c.(391-393)atC>atA p.I131I LDLRAD4_ENST00000399848.3_Silent_p.I113I|LDLRAD4_ENST00000585931.1_Silent_p.I54I|LDLRAD4_ENST00000359446.5_Silent_p.I131I|LDLRAD4_ENST00000587757.1_Silent_p.I94I|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000586765.1_Silent_p.I76I|LDLRAD4_ENST00000592991.1_Silent_p.I33I NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 CCTTCCAGATCATGCATGCCC 0.537000 11 48 7.03913e-09 7.74084e-08 0.00010058 1 0 KMT2D 8085 broad.mit.edu 37 12 49445809 49445809 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:49445809G>A ENST00000301067.7 - 10 1656 c.1657C>T c.(1657-1659)Cct>Tct p.P553S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGGACAAAGGAGATTCTTCA 0.597000 26 46 0 0 0.000227799 0 0 USP34 9736 broad.mit.edu 37 2 61512070 61512070 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:61512070C>T ENST00000398571.2 - 35 4848 c.4772G>A c.(4771-4773)gGa>gAa p.G1591E NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1591 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CAAACTGGTTCCTTGGACAAG 0.308000 4 21 0 0 0.000602214 0 0 KIF13A 63971 broad.mit.edu 37 6 17764934 17764934 + Missense_Mutation SNP G G T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:17764934G>T ENST00000378814.5 - 37 4680 c.4681C>A c.(4681-4683)Ctg>Atg p.L1561M KIF13A_ENST00000378843.2_Missense_Mutation_p.L1561M|KIF13A_ENST00000259711.6_Missense_Mutation_p.L1609M|KIF13A_ENST00000378826.2_Missense_Mutation_p.L1574M|KIF13A_ENST00000378816.5_Missense_Mutation_p.L1574M NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1609 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) ATGTCAGACAGGGTGGCATTG 0.547000 4 23 0.000602214 0.00646095 0.000602214 1 0 PIK3C2B 5287 broad.mit.edu 37 1 204438517 204438517 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:204438517G>A ENST00000367187.3 - 3 970 c.414C>T c.(412-414)gtC>gtT p.V138V PIK3C2B_ENST00000424712.2_Silent_p.V138V NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 138 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGGACGAAGAGACTCCCCCAT 0.577000 10 18 0 0 0.000442599 0 0 PCDH15 65217 broad.mit.edu 37 10 55973787 55973787 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:55973787C>T ENST00000373965.2 - 10 1401 c.1007G>A c.(1006-1008)cGa>cAa p.R336Q PCDH15_ENST00000395438.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R299Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R314Q|PCDH15_ENST00000373957.3_Missense_Mutation_p.R314Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R336Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R336Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R341Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R336Q NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 336 Cadherin 3. 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) ATGGAAAAATCGTGGGTAATC 0.368000 HNSCC(58;0.16) 14 26 0 0 0.000219431 0 0 E2F8 79733 broad.mit.edu 37 11 19247016 19247016 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:19247016G>A ENST00000527884.1 - 12 2405 c.2173C>T c.(2173-2175)Ccc>Tcc p.P725S RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.P725S NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 725 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTCTGGATGGGAACAGGGTGG 0.552000 10 35 0 0 0.000673444 0 0 CPED1 79974 broad.mit.edu 37 7 120935554 120935554 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:120935554C>T ENST00000310396.5 + 23 3396 c.2929C>T c.(2929-2931)Cat>Tat p.H977Y NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 ATCAAGAAATCATATCATGGG 0.328000 11 29 0 0 0.000673444 0 0 CADM2 253559 broad.mit.edu 37 3 86010738 86010738 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:86010738G>A ENST00000383699.3 + 8 1538 c.911G>A c.(910-912)cGa>cAa p.R304Q CADM2_ENST00000407528.2_Missense_Mutation_p.R295Q|CADM2_ENST00000405615.2_Missense_Mutation_p.R297Q NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 295 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GGTACATATCGATGTGAAGCC 0.413000 19 52 0 0 0.000958276 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342622 94342622 + Missense_Mutation SNP T T G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:94342622T>G ENST00000436063.2 - 2 926 c.869A>C c.(868-870)aAa>aCa p.K290T DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TTTTGTTTCTTTAAGAGATTC 0.333000 11 28 0 0 0.000673444 0 0 MIER2 54531 broad.mit.edu 37 19 326549 326549 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:326549G>A ENST00000264819.4 - 6 553 c.543C>T c.(541-543)tcC>tcT p.S181S NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.S181S(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCGGTGTCGGAGGAGGCAG 0.592000 24 43 0 0 0.000878237 0 0 NBEAL1 65065 broad.mit.edu 37 2 203906494 203906494 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:203906494C>T ENST00000449802.1 + 3 391 c.58C>T c.(58-60)Cca>Tca p.P20S NBEAL1_ENST00000478884.1_3'UTR NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 20 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCAGAAAGATCCAGATTACCT 0.338000 51 255 0 0 0.000781405 0 0 GPR61 83873 broad.mit.edu 37 1 110085718 110085718 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:110085718C>T ENST00000527748.1 + 2 757 c.74C>T c.(73-75)cCc>cTc p.P25L RP5-1160K1.8_ENST00000526411.1_RNA NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 25 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) ACCCCAGGTCCCTCTACTGCC 0.612000 14 16 0 0 0.000308642 0 0 ITIH1 3697 broad.mit.edu 37 3 52812490 52812490 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:52812490C>T ENST00000273283.2 + 3 297 c.273C>T c.(271-273)atC>atT p.I91I ITIH1_ENST00000542827.1_Silent_p.I91I NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 91 VIT. 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) ACCTGGAAATCCCCAAGACAG 0.547000 16 36 0 0 0.000566183 0 0 XIRP2 129446 broad.mit.edu 37 2 168103996 168103996 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:168103996C>T ENST00000409195.1 + 9 6183 c.6094C>T c.(6094-6096)Cgt>Tgt p.R2032C XIRP2_ENST00000295237.9_Missense_Mutation_p.R2032C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1810C NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1857 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 TGTCATAGATCGTGAACAAAA 0.388000 7 23 0 0 8.12818e-05 0 0 ERCC1 2067 broad.mit.edu 37 19 45924637 45924637 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:45924637G>A ENST00000300853.3 - 3 711 c.120C>T c.(118-120)ttC>ttT p.F40F ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000591636.1_Silent_p.F40F|ERCC1_ENST00000589165.1_Silent_p.F40F|ERCC1_ENST00000340192.7_Silent_p.F40F|ERCC1_ENST00000013807.5_Silent_p.F40F NM_001983.3 NP_001974.1 P07992 ERCC1_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) 40 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1) 15 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) GTGTAGATCGGAATAAGGGCT 0.602000 Nucleotide excision repair (NER) 18 19 0 0 0.000566183 0 0 ABCA8 10351 broad.mit.edu 37 17 66917522 66917522 + Splice_Site SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:66917522C>T ENST00000269080.2 - 12 1750 c.e12+1 ABCA8_ENST00000586539.1_Splice_Site|ABCA8_ENST00000430352.2_Splice_Site NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CTAGTTTGTACCTTTGGTGGG 0.378000 15 28 0 0 0.000219431 0 0 GPR98 84059 broad.mit.edu 37 5 90074263 90074263 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:90074263C>T ENST00000405460.2 + 63 12782 c.12686C>T c.(12685-12687)cCc>cTc p.P4229L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4229 Calx-beta 28. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GATGACATTCCCGAGGAAAAA 0.438000 4 10 0 0 0.000602214 0 0 PLXND1 23129 broad.mit.edu 37 3 129302425 129302425 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:129302425G>A ENST00000393239.1 - 8 2404 c.2226C>T c.(2224-2226)gcC>gcT p.A742A PLXND1_ENST00000324093.4_Silent_p.A742A Q9Y4D7 PLXD1_HUMAN plexin D1 742 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GGTTTGGTGAGGCCTCGCACC 0.542000 4 17 0 0 0.000602214 0 0 KCNV1 27012 broad.mit.edu 37 8 110980770 110980770 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:110980770G>A ENST00000524391.1 - 4 2082 c.1050C>T c.(1048-1050)ctC>ctT p.L350L KCNV1_ENST00000297404.1_Silent_p.L350L Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 350 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) ATAGAAATAGGAGCAGTAGGC 0.458000 12 24 0 0 0.000151284 0 0 USH2A 7399 broad.mit.edu 37 1 215848794 215848794 + Silent SNP G G T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:215848794G>T ENST00000366943.2 - 63 12845 c.12459C>A c.(12457-12459)gcC>gcA p.A4153A USH2A_ENST00000307340.3_Silent_p.A4153A O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4153 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) AGTCTGGAGGGGCTTCATCTG 0.557000 HNSCC(13;0.011) 12 27 3.07112e-06 3.32531e-05 0.000978159 1 0 AHNAK 79026 broad.mit.edu 37 11 62284753 62284753 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:62284753G>A ENST00000378024.4 - 5 17410 c.17136C>T c.(17134-17136)atC>atT p.I5712I AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5712 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGGCATTTTGATCTTGGACT 0.473000 32 51 0 0 0.000692331 0 0 ZDHHC19 131540 broad.mit.edu 37 3 195936284 195936284 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:195936284C>T ENST00000296326.3 - 3 450 c.371G>A c.(370-372)cGg>cAg p.R124Q ZDHHC19_ENST00000488508.1_5'UTR NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 124 integral to membrane acyltransferase activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) GTGGTAAGTCCGGGGCGGGCG 0.657000 3 2 0 0 6.4e-05 0 0 SBNO2 22904 broad.mit.edu 37 19 1119085 1119085 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:1119085G>A ENST00000361757.3 - 14 1689 c.1452C>T c.(1450-1452)tcC>tcT p.S484S SBNO2_ENST00000587024.1_Silent_p.S484S|SBNO2_ENST00000438103.2_Silent_p.S427S NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 484 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGACGCCGGAGAAGCTGA 0.682000 3 4 0 0 0.00024832 0 0 DNAH8 1769 broad.mit.edu 37 6 38834641 38834641 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:38834641C>T ENST00000359357.3 + 45 6285 c.6031C>T c.(6031-6033)Ctt>Ttt p.L2011F DNAH8_ENST00000441566.1_Intron|DNAH8_ENST00000449981.2_Missense_Mutation_p.L2228F 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 TGAAGAGCAACTTACTAAACA 0.323000 37 7 0 0 0.000814825 0 0 MACF1 23499 broad.mit.edu 37 1 39788666 39788666 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:39788666C>T ENST00000564288.1 + 33 4999 c.4222C>T c.(4222-4224)Ctg>Ttg p.L1408L MACF1_ENST00000361689.2_Silent_p.L1413L|MACF1_ENST00000545844.1_Silent_p.L1413L|MACF1_ENST00000539005.1_Silent_p.L1413L|MACF1_ENST00000372915.3_Silent_p.L1413L|MACF1_ENST00000317713.7_Silent_p.L1413L|MACF1_ENST00000567887.1_Silent_p.L1445L|MACF1_ENST00000476350.1_3'UTR Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1413 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACTCCGGCGTCTGGAGGAGGA 0.483000 27 53 0 0 0.000878237 0 0 RTEL1 51750 broad.mit.edu 37 20 62326551 62326551 + Missense_Mutation SNP T T C TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:62326551T>C ENST00000318100.4 + 33 4303 c.3476T>C c.(3475-3477)cTt>cCt p.L1159P RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.L1159P|RTEL1_ENST00000360203.5_Missense_Mutation_p.L1159P|RTEL1_ENST00000508582.2_Missense_Mutation_p.L1183P|RTEL1_ENST00000370018.3_Missense_Mutation_p.L1159P|RTEL1_ENST00000370003.1_Missense_Mutation_p.L404P Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 1159 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CCTCCTGTGCTTACCCACAGG 0.697000 5 14 0 0 0.000602214 0 0 SUOX 6821 broad.mit.edu 37 12 56397658 56397658 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:56397658C>T ENST00000394109.3 + 3 1209 c.485C>T c.(484-486)cCt>cTt p.P162L SUOX_ENST00000356124.4_Missense_Mutation_p.P162L|SUOX_ENST00000266971.3_Missense_Mutation_p.P162L|SUOX_ENST00000548274.1_Missense_Mutation_p.P162L|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000394115.2_Missense_Mutation_p.P162L P51687 SUOX_HUMAN sulfite oxidase 162 mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) GAGCTGAATCCTGAAGACAAG 0.567000 16 28 0 0 0.000958276 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588661 140588661 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:140588661C>T ENST00000239450.2 + 1 371 c.182C>T c.(181-183)tCg>tTg p.S61L PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 61 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCTGTCTTCGCGGGGGGCT 0.507000 28 69 0 0 0.000409698 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174275 207174275 + Nonsense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:207174275C>T ENST00000374423.3 + 5 5409 c.5023C>T c.(5023-5025)Cga>Tga p.R1675* NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1675 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 CACTTCTCATCGAACGACTCA 0.408000 25 22 0 0 0.000878237 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266125 41266125 + Missense_Mutation SNP C C T rs121913413 TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:41266125C>T ENST00000349496.5 + 3 402 c.122C>T c.(121-123)aCc>aTc p.T41I CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41I|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41I|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34I NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 41 T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.T41I(74)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41N(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A39_T42del(1)|p.A20_S111del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGTGCCACTACCACAGCTCCT 0.507000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 12 25 0 0 0.00010058 0 0 RFX6 222546 broad.mit.edu 37 6 117203570 117203570 + Missense_Mutation SNP T T C TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:117203570T>C ENST00000332958.2 + 4 561 c.545T>C c.(544-546)cTt>cCt p.L182P NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 182 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 ACAAGGCGGCTTGGAACAAGA 0.393000 5 7 0 0 8.12818e-05 0 0 CCDC147 159686 broad.mit.edu 37 10 106152112 106152112 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:106152112C>T ENST00000369704.3 + 10 1621 c.1487C>T c.(1486-1488)tCa>tTa p.S496L NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 496 S -> T (in dbSNP:rs11192036). NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GCTGTGAGATCAGACAGAAAT 0.299000 20 30 0 0 0.000295444 0 0 ECD 11319 broad.mit.edu 37 10 74916361 74916361 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:74916361G>A ENST00000372979.4 - 4 582 c.376C>T c.(376-378)Cct>Tct p.P126S ECD_ENST00000454759.1_Missense_Mutation_p.P126S|ECD_ENST00000430082.1_Missense_Mutation_p.P126S NM_007265.2 NP_009196.1 O95905 SGT1_HUMAN ecdysoneless homolog (Drosophila) 126 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(51;0.0119) AGCCATTTAGGGAGAAAGTCA 0.338000 35 65 0 0 0.000509022 0 0 MALT1 10892 broad.mit.edu 37 18 56376661 56376661 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr18:56376661C>T ENST00000348428.3 + 5 959 c.701C>T c.(700-702)aCt>aTt p.T234I RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.T234I NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 234 Ig-like C2-type 2. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 GTTGAACCAACTTCCCAAAAG 0.358000 T BIRC3 MALT 18 38 0 0 0.000229342 0 0 FRMD4B 23150 broad.mit.edu 37 3 69245538 69245538 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:69245538G>A ENST00000542259.1 - 15 1391 c.940C>T c.(940-942)Cct>Tct p.P314S FRMD4B_ENST00000478263.1_Missense_Mutation_p.P20S|FRMD4B_ENST00000398540.3_Missense_Mutation_p.P368S Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 368 FERM. cytoplasm|cytoskeleton binding p.P314S(1) NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) CTGGCTGAAGGAATTTTTGCC 0.363000 28 43 0 0 0.000184323 0 0 LETM1 3954 broad.mit.edu 37 4 1843299 1843299 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr4:1843299G>A ENST00000302787.2 - 3 665 c.369C>T c.(367-369)tcC>tcT p.S123S NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 123 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) AGGACTTGAGGGACTTCTCTA 0.612000 8 24 0 0 0.000157383 0 0 SPZ1 84654 broad.mit.edu 37 5 79616184 79616184 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:79616184C>T ENST00000296739.4 + 1 395 c.150C>T c.(148-150)ctC>ctT p.L50L NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) GGGGCTCTCTCCCTTTCCTAA 0.388000 36 73 0 0 0.000228196 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073094 15073094 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:15073094C>T ENST00000598504.1 - 8 2014 c.655G>A c.(655-657)Gag>Aag p.E219K SLC1A6_ENST00000600144.1_Missense_Mutation_p.E219K|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E219K|SLC1A6_ENST00000430939.2_Missense_Mutation_p.E155K|SLC1A6_ENST00000544886.2_Missense_Mutation_p.E219K NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 219 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GCACCCGGCTCAGACCCGTTC 0.552000 27 69 0 0 0.000339439 0 0 GPR6 2830 broad.mit.edu 37 6 110300536 110300536 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:110300536C>T ENST00000414000.2 + 3 505 c.266C>T c.(265-267)cCg>cTg p.P89L GPR6_ENST00000275169.3_Missense_Mutation_p.P74L P46095 GPR6_HUMAN G protein-coupled receptor 6 74 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GCGGTGAATCCGTGGGACGTG 0.692000 11 31 0 0 0.000151284 0 0 STMN2 11075 broad.mit.edu 37 8 80553689 80553689 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:80553689C>T ENST00000220876.7 + 3 574 c.192C>T c.(190-192)atC>atT p.I64I STMN2_ENST00000518111.1_Silent_p.I64I|STMN2_ENST00000518491.1_Silent_p.I53I NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 64 Regulatory/phosphorylation domain (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) CATCTCCTATCTCAGAAGCCC 0.458000 15 32 0 0 0.000308642 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964028 7964028 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:7964028G>A ENST00000306708.6 + 3 722 c.621G>A c.(619-621)ctG>ctA p.L207L AC010336.1_ENST00000539278.1_3'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 207 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 AGAAAGTGCTGGCGGAACCGG 0.622000 4 24 0 0 0.00024832 0 0 MYH7 4625 broad.mit.edu 37 14 23893208 23893208 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:23893208C>T ENST00000355349.3 - 23 2992 c.2830G>A c.(2830-2832)Gaa>Aaa p.E944K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 944 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) CACTCATCTTCCAGCTTGCGC 0.517000 22 45 0 0 0.000295444 0 0 BRF1 2972 broad.mit.edu 37 14 105693012 105693012 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:105693012G>A ENST00000546474.1 - 8 15833 c.874C>T c.(874-876)Ccc>Tcc p.P292S BRF1_ENST00000551787.1_Missense_Mutation_p.P88S|BRF1_ENST00000446501.2_Missense_Mutation_p.P54S|BRF1_ENST00000392557.4_Missense_Mutation_p.P88S|BRF1_ENST00000379932.4_Missense_Mutation_p.P88S|BRF1_ENST00000379937.2_Missense_Mutation_p.P265S|BRF1_ENST00000440513.3_Missense_Mutation_p.P177S|BRF1_ENST00000327359.3_Missense_Mutation_p.P177S NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 292 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GTGTACGAGGGGGGGTCGCAC 0.582000 10 23 0 0 0.000442599 0 0 AKR1A1 10327 broad.mit.edu 37 1 46034238 46034238 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:46034238C>T ENST00000372070.3 + 7 1381 c.634C>T c.(634-636)Cct>Tct p.P212S AKR1A1_ENST00000351829.4_Missense_Mutation_p.P212S NM_001202413.1|NM_001202414.1|NM_006066.3 NP_001189342.1|NP_001189343.1|NP_006057.1 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 (aldehyde reductase) 212 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding lung(3)|prostate(1)|urinary_tract(1) 5 Acute lymphoblastic leukemia(166;0.155) TGCTTATAGCCCTTTGGGCTC 0.537000 12 18 0 0 0.00010058 0 0 PTPRN2 5799 broad.mit.edu 37 7 157931072 157931072 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:157931072C>T ENST00000389413.3 - 7 1149 c.1046G>A c.(1045-1047)cGa>cAa p.R349Q PTPRN2_ENST00000389418.4_Missense_Mutation_p.R349Q|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R332Q|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R311Q|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R372Q NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 349 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGGGCTGCCTCGAGCTACTCC 0.672000 11 33 0 0 0.000673444 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69095234 69095234 + Splice_Site SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr4:69095234C>T ENST00000332644.5 - 8 848 c.686_splice c.e8-1 p.K229_splice NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 229 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 AATTATTTTTCCTAGAGGACA 0.323000 7 19 0 0 8.12818e-05 0 0 PCDH15 65217 broad.mit.edu 37 10 55591154 55591154 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:55591154C>T ENST00000373965.2 - 31 4538 c.4144G>A c.(4144-4146)Ggg>Agg p.G1382R PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1375R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R|PCDH15_ENST00000395446.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1375 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) AACAAGGCCCCTTCTGTGTAT 0.493000 HNSCC(58;0.16) 8 42 0 0 0.000442599 0 0 CABP4 57010 broad.mit.edu 37 11 67223182 67223182 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:67223182C>T ENST00000325656.5 + 1 365 c.288C>T c.(286-288)tcC>tcT p.S96S CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR NM_145200.3 NP_660201.1 P57796 CABP4_HUMAN calcium binding protein 4 96 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CTCGCCAGTCCCACCGACATC 0.682000 3 11 0 0 0.00024832 0 0 COL5A1 1289 broad.mit.edu 37 9 137717717 137717717 + Silent SNP G G A rs148006741 TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr9:137717717G>A ENST00000371817.3 + 63 5448 c.5034G>A c.(5032-5034)tcG>tcA p.S1678S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1678 Fibrillar collagen NC1. 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) CCGGGGGGTCGACATGCGTCT 0.592000 7 20 0 0 0.000274275 0 0 MUC4 4585 broad.mit.edu 37 3 195481174 195481174 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:195481174C>T ENST00000463781.3 - 19 15697 c.15238G>A c.(15238-15240)Gag>Aag p.E5080K MUC4_ENST00000349607.4_Missense_Mutation_p.E793K|MUC4_ENST00000346145.4_Missense_Mutation_p.E844K|MUC4_ENST00000475231.1_Missense_Mutation_p.E5028K NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1837 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AAGCACGGCTCCTCACAGGCA 0.692000 11 29 0 0 0.000978159 0 0 OR4X2 119764 broad.mit.edu 37 11 48267238 48267238 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:48267238G>A ENST00000302329.3 + 1 631 c.583G>A c.(583-585)Gga>Aga p.G195R NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGTTGCCAATGGAGGCACCCT 0.498000 42 75 0 0 0.000437636 0 0 CSMD2 114784 broad.mit.edu 37 1 34191090 34191090 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:34191090C>T ENST00000373381.4 - 17 2731 c.2555G>A c.(2554-2556)cGg>cAg p.R852Q NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 812 CUB 5. integral to membrane|plasma membrane protein binding p.R812Q(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGAGTAAGTCCGCCCATCGCG 0.502000 16 23 0 0 0.00074312 0 0 PKP3 11187 broad.mit.edu 37 11 397006 397006 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:397006G>A ENST00000331563.2 + 3 581 c.505G>A c.(505-507)Ggg>Agg p.G169R NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 169 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGAGCGCGGTGGGGTTGGGAG 0.721000 4 17 0 0 0.000602214 0 0 DST 667 broad.mit.edu 37 6 56391321 56391321 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:56391321G>A ENST00000370754.5 - 69 17873 c.17874C>T c.(17872-17874)tcC>tcT p.S5958S DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.S5780S|DST_ENST00000361203.3_Silent_p.S5669S|DST_ENST00000421834.2_Silent_p.S3692S|DST_ENST00000370788.2_Silent_p.S3583S|DST_ENST00000446842.2_Silent_p.S5454S|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.S3366S Q03001 DYST_HUMAN dystonin 5778 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) CTTCATTAAGGGAGTCCAGTA 0.418000 31 243 0 0 0.00111076 0 0 HGF 3082 broad.mit.edu 37 7 81388076 81388076 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:81388076G>A ENST00000222390.5 - 3 525 c.299C>T c.(298-300)cCc>cTc p.P100L HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Missense_Mutation_p.P100L|HGF_ENST00000457544.2_Missense_Mutation_p.P100L|HGF_ENST00000354224.6_Missense_Mutation_p.P100L|HGF_ENST00000453411.1_Missense_Mutation_p.P100L|HGF_ENST00000423064.2_Missense_Mutation_p.P100L NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 100 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GCTATTGAAGGGGAACCAGAG 0.318000 40 61 0 0 0.000509022 0 0 DENND5A 23258 broad.mit.edu 37 11 9225804 9225804 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:9225804G>A ENST00000328194.3 - 4 672 c.352C>T c.(352-354)Cat>Tat p.H118Y DENND5A_ENST00000530044.1_Missense_Mutation_p.H118Y NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 118 UDENN. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ATAAAGGCATGGAATTGGGGC 0.493000 11 29 0 0 0.000978159 0 0 ANKRD42 338699 broad.mit.edu 37 11 82922398 82922398 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:82922398G>A ENST00000393389.3 + 5 1444 c.512G>A c.(511-513)cGg>cAg p.R171Q ANKRD42_ENST00000526731.1_Missense_Mutation_p.R171Q|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R171Q|ANKRD42_ENST00000393392.2_Missense_Mutation_p.R143Q|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R170Q|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R171Q|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R58Q Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 143 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TTTCATGGGCGGCTTGGCTGC 0.408000 30 40 0 0 0.000279167 0 0 C7orf62 219557 broad.mit.edu 37 7 88423705 88423705 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:88423705G>A ENST00000297203.2 - 2 737 c.552C>T c.(550-552)taC>taT p.Y184Y ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 184 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 TCTGGCAAAGGTAGAGTGACA 0.423000 32 85 0 0 0.000339439 0 0 LYZL6 57151 broad.mit.edu 37 17 34263770 34263770 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:34263770C>T ENST00000585556.1 - 4 700 c.366G>A c.(364-366)ggG>ggA p.G122G LYZL6_ENST00000293274.4_Silent_p.G122G|LYZL6_ENST00000394523.3_Silent_p.G122G O75951 LYZL6_HUMAN lysozyme-like 6 122 cell wall macromolecule catabolic process extracellular region lysozyme activity breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 12 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGTTGTTCATCCCCCGTGCTC 0.572000 29 46 0 0 0.00058488 0 0 AFF1 4299 broad.mit.edu 37 4 88052237 88052237 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr4:88052237G>A ENST00000307808.6 + 16 3366 c.2946G>A c.(2944-2946)acG>acA p.T982T AFF1_ENST00000544085.1_Silent_p.T620T|AFF1_ENST00000395146.4_Silent_p.T989T NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 982 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TCCTGCAGACGGACAGGGTTG 0.458000 25 29 0 0 0.000227799 0 0 DIDO1 11083 broad.mit.edu 37 20 61542327 61542327 + Missense_Mutation SNP A A G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:61542327A>G ENST00000266070.4 - 3 963 c.638T>C c.(637-639)cTg>cCg p.L213P DIDO1_ENST00000395335.2_Missense_Mutation_p.L213P|DIDO1_ENST00000370371.4_Missense_Mutation_p.L213P|DIDO1_ENST00000266071.5_Missense_Mutation_p.L213P|DIDO1_ENST00000370366.1_Missense_Mutation_p.L213P|DIDO1_ENST00000370368.1_Missense_Mutation_p.L213P|DIDO1_ENST00000395343.1_Missense_Mutation_p.L213P|DIDO1_ENST00000395340.1_Missense_Mutation_p.L213P|DIDO1_ENST00000354665.4_Missense_Mutation_p.L213P NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 213 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTACTGGGCAGGACGCCCTC 0.632000 12 29 0 0 0.000151284 0 0 CELSR2 1952 broad.mit.edu 37 1 109812152 109812152 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:109812152C>T ENST00000271332.3 + 21 6980 c.6919C>T c.(6919-6921)Cgc>Tgc p.R2307C NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2307 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGTGCAGTTCCGCCTGCTGGA 0.612000 92 186 0 0 0.000781405 0 0 CSMD1 64478 broad.mit.edu 37 8 3000081 3000081 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:3000081G>A ENST00000520002.1 - 42 6705 c.6150C>T c.(6148-6150)ctC>ctT p.L2050L CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Silent_p.L2049L|CSMD1_ENST00000539096.1_Silent_p.L2049L|CSMD1_ENST00000400186.3_Silent_p.L2050L|CSMD1_ENST00000602557.1_Silent_p.L2050L|CSMD1_ENST00000542608.1_Silent_p.L2049L|CSMD1_ENST00000602723.1_Silent_p.L2050L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2050 CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGGCCGCGGGGAGATCCGTGC 0.463000 34 46 0 0 0.00058488 0 0 ACSM4 341392 broad.mit.edu 37 12 7479638 7479638 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:7479638G>A ENST00000399422.4 + 12 1651 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 535 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 ATTAACTCTTGAACTTCAGGA 0.378000 7 13 0 0 0.000157383 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296553 28296553 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr21:28296553C>T ENST00000284987.5 - 8 2733 c.2612G>A c.(2611-2613)gGa>gAa p.G871E AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 871 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 AGTGTGTGATCCCACTTTATT 0.522000 25 45 0 0 0.000878237 0 0 DES 1674 broad.mit.edu 37 2 220286118 220286118 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:220286118C>T ENST00000373960.3 + 6 1166 c.1080C>T c.(1078-1080)gcC>gcT p.A360A NM_001927.3 NP_001918.3 P17661 DESM_HUMAN desmin 360 Coil 2B.|Rod. A -> P (in MFM1; heterozygous with Ile- 391 gives a severe childhood-onset; unable to form a filamentous network; abolishes binding to MTM1).|Missing (in MFM1). cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) CCAGTGAGGCCAGTGGCTACC 0.597000 12 22 0 0 0.000978159 0 0 DXO 1797 broad.mit.edu 37 6 31937781 31937781 + Missense_Mutation SNP C C A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:31937781C>A ENST00000375349.3 - 7 1475 c.1064G>T c.(1063-1065)tGg>tTg p.W355L DOM3Z_ENST00000375356.3_Missense_Mutation_p.W355L|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_Missense_Mutation_p.W355L O77932 DOM3Z_HUMAN 355 identical protein binding|metal ion binding|nucleotide binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 GCCAGGCTCCCAAGAGAAGAG 0.587000 9 501 0.000274275 0.0029516 0.000274275 1 0 PAPSS2 9060 broad.mit.edu 37 10 89472847 89472847 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:89472847G>A ENST00000361175.4 + 3 530 c.161G>A c.(160-162)gGa>gAa p.G54E PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Missense_Mutation_p.G54E|PAPSS2_ENST00000427144.2_Missense_Mutation_p.G58E NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 54 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) TCTGGTGCTGGAAAAACAACG 0.428000 40 55 0 0 0.000781405 0 0 KLHL13 90293 broad.mit.edu 37 X 117043528 117043528 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chrX:117043528C>T ENST00000371876.1 - 4 3370 c.949G>A c.(949-951)Gag>Aag p.E317K KLHL13_ENST00000371882.1_Missense_Mutation_p.E317K|KLHL13_ENST00000469946.1_Missense_Mutation_p.E317K|KLHL13_ENST00000539496.1_Missense_Mutation_p.E371K|KLHL13_ENST00000371878.1_Missense_Mutation_p.E317K|KLHL13_ENST00000262820.3_Missense_Mutation_p.E368K|KLHL13_ENST00000545703.1_Missense_Mutation_p.E326K|KLHL13_ENST00000541812.1_Missense_Mutation_p.E352K|KLHL13_ENST00000540167.1_Missense_Mutation_p.E352K Q9P2N7 KLH13_HUMAN kelch-like family member 13 368 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GATTTCCACTCATGGGCCTTT 0.493000 19 19 0 0 0.000229342 0 0 DDX43 55510 broad.mit.edu 37 6 74111671 74111671 + Missense_Mutation SNP A A G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:74111671A>G ENST00000370336.4 + 4 684 c.526A>G c.(526-528)Att>Gtt p.I176V DDX43_ENST00000539829.1_Missense_Mutation_p.I176V NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 176 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TTGGGATCAAATTAGAGAGGA 0.373000 95 39 0 0 0.000781405 0 0 CLCNKA 1187 broad.mit.edu 37 1 16356500 16356500 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:16356500C>T ENST00000375692.1 + 15 1466 c.1338C>T c.(1336-1338)gtC>gtT p.V446V CLCNKA_ENST00000331433.4_Silent_p.V446V|CLCNKA_ENST00000420078.1_Silent_p.V446V|CLCNKA_ENST00000439316.2_Silent_p.V403V|CLCNKA_ENST00000464764.1_3'UTR P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 446 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) CTCTTGCCGTCGCCTTCCCTG 0.672000 16 13 0 0 0.000229342 0 0 AKAP13 11214 broad.mit.edu 37 15 86283477 86283477 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:86283477C>T ENST00000394518.2 + 34 7677 c.7582C>T c.(7582-7584)Ctc>Ttc p.L2528F AKAP13_ENST00000361243.2_Missense_Mutation_p.L2532F|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.L773F NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2528 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CGTTGTTCATCTCTACGAGCT 0.473000 72 30 0 0 0.000781405 0 0 CACNA1A 773 broad.mit.edu 37 19 13397745 13397745 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:13397745G>A ENST00000360228.5 - 20 3124 c.3125C>T c.(3124-3126)cCc>cTc p.P1042L CACNA1A_ENST00000573710.2_Missense_Mutation_p.P1043L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1043 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.P1043H(3) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGACAGGTTGGGGCCCGACAC 0.552000 14 20 0 0 0.000422831 0 0 USP32 84669 broad.mit.edu 37 17 58329766 58329766 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:58329766G>A ENST00000300896.4 - 11 1306 c.1112C>T c.(1111-1113)cCg>cTg p.P371L USP32_ENST00000592339.1_Missense_Mutation_p.P41L|USP32_ENST00000393003.3_Missense_Mutation_p.P371L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 371 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TTCTTCTTCCGGAGTAGCTGG 0.323000 13 18 0 0 0.000308642 0 0 KIF2B 84643 broad.mit.edu 37 17 51900848 51900848 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:51900848G>A ENST00000268919.4 + 1 610 c.454G>A c.(454-456)Gaa>Aaa p.E152K NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 152 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTGCCTCTGGGAAATCCAGAA 0.562000 24 39 0 0 0.000586117 0 0 LRRC3 81543 broad.mit.edu 37 21 45877008 45877008 + Missense_Mutation SNP A A G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr21:45877008A>G ENST00000291592.4 + 2 798 c.481A>G c.(481-483)Aag>Gag p.K161E NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 161 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) GTGGGAGCTGAAGCTGGACCC 0.647000 7 18 0 0 8.12818e-05 0 0 CATSPER4 378807 broad.mit.edu 37 1 26526463 26526463 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:26526463C>T ENST00000456354.2 + 7 968 c.901C>T c.(901-903)Ctg>Ttg p.L301L NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 301 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) TGGCATCAACCTGTTCGTCAT 0.512000 9 17 0 0 0.000673444 0 0 HEATR5B 54497 broad.mit.edu 37 2 37283665 37283665 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:37283665G>A ENST00000233099.5 - 16 2412 c.2317C>T c.(2317-2319)Ccc>Tcc p.P773S HEATR5B_ENST00000354531.2_Missense_Mutation_p.P773S NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 773 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) AGAGGGAGGGGACCAGGTACT 0.478000 12 40 0 0 0.000151284 0 0 ACSL1 2180 broad.mit.edu 37 4 185698108 185698108 + Silent SNP A A G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr4:185698108A>G ENST00000515030.1 - 6 832 c.507T>C c.(505-507)gcT>gcC p.A169A ACSL1_ENST00000513317.1_Silent_p.A169A|ACSL1_ENST00000281455.2_Silent_p.A169A|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000504900.1_Silent_p.A169A|ACSL1_ENST00000507295.1_Silent_p.A135A|ACSL1_ENST00000504342.1_Silent_p.A169A|ACSL1_ENST00000454703.2_5'UTR P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 169 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCATCGAATAAGCAAAGCATC 0.393000 11 17 0 0 0.000151284 0 0 INO80 54617 broad.mit.edu 37 15 41371979 41371979 + Nonsense_Mutation SNP C C A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:41371979C>A ENST00000361937.3 - 9 1475 c.1051G>T c.(1051-1053)Gag>Tag p.E351* INO80_ENST00000401393.3_Nonsense_Mutation_p.E351* Q9ULG1 INO80_HUMAN INO80 complex subunit 351 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity p.E351*(2) NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TCTACTTTCTCATATTTCTTC 0.532000 11 454 0.000673444 0.00720319 0.000673444 1 0 SHROOM3 57619 broad.mit.edu 37 4 77660429 77660429 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr4:77660429C>T ENST00000296043.6 + 5 2056 c.1103C>T c.(1102-1104)tCc>tTc p.S368F NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 368 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGCCCCAGTTCCTTGGAGACT 0.607000 14 23 0 0 0.000566183 0 0 SERPING1 710 broad.mit.edu 37 11 57369545 57369545 + Missense_Mutation SNP C C G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:57369545C>G ENST00000403558.1 + 3 1056 c.690C>G c.(688-690)atC>atG p.I230M SERPING1_ENST00000340687.6_Missense_Mutation_p.I196M|SERPING1_ENST00000278407.4_Missense_Mutation_p.I196M|SERPING1_ENST00000378323.4_Missense_Mutation_p.I201M|SERPING1_ENST00000378324.2_Missense_Mutation_p.I144M|SERPING1_ENST00000531605.1_3'UTR NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 196 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 TGGAGAGCATCCTCTCTTACC 0.552000 7 18 0 0 0.000157383 0 0 NOTCH4 4855 broad.mit.edu 37 6 32168976 32168976 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:32168976C>T ENST00000375023.3 - 22 4195 c.4057G>A c.(4057-4059)Gga>Aga p.G1353R NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1353 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TCCCGAGTTCCTCCTAGCTTT 0.602000 22 316 0 0 0.000295444 0 0 NAA25 80018 broad.mit.edu 37 12 112481497 112481497 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:112481497G>A ENST00000261745.4 - 18 2430 c.2182C>T c.(2182-2184)Cgt>Tgt p.R728C NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 728 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 AGGAGCAAACGAAGAATATCA 0.468000 14 61 0 0 0.000219431 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986550 11986550 + RNA SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:11986550C>T ENST00000434078.2 + 0 608 NR_027425.1 GCAGGTATTTCCCATATTCTG 0.552000 12 16 0 0 0.000151284 0 0 SPAG17 200162 broad.mit.edu 37 1 118584660 118584660 + Nonsense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:118584660C>T ENST00000336338.5 - 21 2885 c.2820G>A c.(2818-2820)tgG>tgA p.W940* NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 940 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GCTCTTCTTTCCATGCCTGTA 0.338000 36 56 0 0 0.000692331 0 0 SLC2A11 66035 broad.mit.edu 37 22 24226868 24226868 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr22:24226868C>T ENST00000345044.6 + 12 1591 c.1323C>T c.(1321-1323)ttC>ttT p.F441F SLC2A11_ENST00000398356.2_Silent_p.F448F|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000316185.8_Silent_p.F444F Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 441 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 ATGTCCCTTTCCTTGGTGTCT 0.512000 35 60 0 0 0.000692331 0 0 DNAH3 55567 broad.mit.edu 37 16 20946803 20946803 + Nonsense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr16:20946803C>T ENST00000261383.3 - 61 11863 c.11864G>A c.(11863-11865)tGg>tAg p.W3955* DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3955 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.W3955L(2) 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) CTTGTCAATCCATTCCTGGAG 0.383000 6 20 0 0 3.59834e-05 0 0 ZNF560 147741 broad.mit.edu 37 19 9578233 9578233 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:9578233C>T ENST00000301480.4 - 10 1603 c.1390G>A c.(1390-1392)Gaa>Aaa p.E464K NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 464 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 TTCCCATATTCCTTATGCTCA 0.403000 45 193 0 0 0.000781405 0 0 ZDHHC11 79844 broad.mit.edu 37 5 837498 837498 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:837498C>T ENST00000283441.8 - 6 1265 c.882G>A c.(880-882)atG>atA p.M294I ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.M294I NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 294 integral to membrane acyltransferase activity|zinc ion binding p.M294I(2) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CTCCTTTGTCCATTTGCACGT 0.483000 31 56 0 0 0.000409698 0 0 RGPD4 285190 broad.mit.edu 37 2 108487716 108487716 + Nonsense_Mutation SNP A A T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:108487716A>T ENST00000408999.3 + 20 3333 c.3256A>T c.(3256-3258)Aaa>Taa p.K1086* RGPD4_ENST00000354986.4_Nonsense_Mutation_p.K1086* NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1086 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GGGGAACTTAAAAATTCTCAA 0.393000 69 207 0 0 0.000781405 0 0 DIDO1 11083 broad.mit.edu 37 20 61512461 61512461 + Missense_Mutation SNP G G A rs140993487 by1000genomes TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:61512461G>A ENST00000266070.4 - 16 5172 c.4847C>T c.(4846-4848)tCt>tTt p.S1616F DIDO1_ENST00000395343.1_Missense_Mutation_p.S1616F NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1616 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCAGGGGGAAGAGGCTGGCTC 0.711000 6 9 0 0 8.12818e-05 0 0 CYP19A1 1588 broad.mit.edu 37 15 51519994 51519994 + Nonsense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:51519994G>A ENST00000396402.1 - 4 586 c.433C>T c.(433-435)Cga>Tga p.R145* RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Nonsense_Mutation_p.R145*|CYP19A1_ENST00000557858.1_Nonsense_Mutation_p.R145*|CYP19A1_ENST00000260433.2_Nonsense_Mutation_p.R145*|CYP19A1_ENST00000396404.4_Nonsense_Mutation_p.R145*|CYP19A1_ENST00000405913.3_Nonsense_Mutation_p.R145* NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 145 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) AAGAAGGGTCGAGTTGTTTTC 0.363000 68 34 0 0 0.000781405 0 0 SLC6A2 6530 broad.mit.edu 37 16 55732385 55732385 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr16:55732385G>A ENST00000379906.2 + 10 1649 c.1394G>A c.(1393-1395)gGa>gAa p.G465E SLC6A2_ENST00000561820.1_Missense_Mutation_p.G465E|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G465E|SLC6A2_ENST00000219833.8_Missense_Mutation_p.G465E|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G360E|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G465E|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G420E NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 465 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TGCCAGGGTGGAATTTACGTC 0.527000 20 13 0 0 0.000175454 0 0 YBX3 8531 broad.mit.edu 37 12 10865878 10865878 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:10865878G>A ENST00000228251.4 - 5 705 c.505C>T c.(505-507)Cgt>Tgt p.R169C YBX3_ENST00000279550.7_Missense_Mutation_p.R169C NM_003651.4 NP_003642.3 Y box binding protein 3 GCAGCGTAACGACTCCCTTCC 0.502000 17 64 0 0 0.000422831 0 0 ANKMY1 51281 broad.mit.edu 37 2 241452226 241452226 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:241452226G>A ENST00000391987.1 - 10 2237 c.1871C>T c.(1870-1872)cCc>cTc p.P624L ANKMY1_ENST00000373318.2_Missense_Mutation_p.P483L|ANKMY1_ENST00000403283.1_Missense_Mutation_p.P562L|ANKMY1_ENST00000361678.4_Missense_Mutation_p.P483L|ANKMY1_ENST00000406958.1_Missense_Mutation_p.P385L|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P624L|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P713L|ANKMY1_ENST00000373320.4_Missense_Mutation_p.P394L Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 624 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) CACCTTGCCGGGCTTGTAAGT 0.612000 5 6 0 0 0.000157383 0 0 PPARG 5468 broad.mit.edu 37 3 12393094 12393094 + Translation_Start_Site SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:12393094G>A ENST00000287820.6 + 1 124 c.3G>A c.(1-3)atG>atA p.M1I PPARG_ENST00000397010.2_Intron|PPARG_ENST00000397026.2_Intron|PPARG_ENST00000309576.6_Intron|PPARG_ENST00000397015.2_Intron|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Intron|PPARG_ENST00000397000.1_Intron NM_015869.4 NP_056953.2 P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 1 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) ATGCTGTTATGGGTGAAACTC 0.393000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 93 198 0 0 0.000781405 0 0 SCN10A 6336 broad.mit.edu 37 3 38748782 38748782 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:38748782G>A ENST00000449082.2 - 25 4373 c.4374C>T c.(4372-4374)atC>atT p.I1458I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1458 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) GGGGCCGTGGGATGGGCTTCT 0.557000 30 70 0 0 0.000814825 0 0 TNRC6A 27327 broad.mit.edu 37 16 24817563 24817563 + Missense_Mutation SNP A A G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr16:24817563A>G ENST00000395799.3 + 16 4417 c.4288A>G c.(4288-4290)Aga>Gga p.R1430G CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1381G NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1430 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GCAGAGTCAGAGAAGCGTGCC 0.502000 11 28 0 0 0.00010058 0 0 TSEN54 283989 broad.mit.edu 37 17 73517849 73517849 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:73517849C>T ENST00000333213.6 + 8 723 c.687C>T c.(685-687)tcC>tcT p.S229S NM_207346.2 NP_997229.2 Q7Z6J9 SEN54_HUMAN TSEN54 tRNA splicing endonuclease subunit 229 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2) 13 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGGCAGCCTCCAGCCCACCTC 0.622000 5 9 0 0 8.12818e-05 0 0 CD163 9332 broad.mit.edu 37 12 7640276 7640276 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:7640276G>A ENST00000396620.3 - 7 1913 c.1828C>T c.(1828-1830)Ctt>Ttt p.L610F CD163_ENST00000541972.1_Intron|CD163_ENST00000359156.4_Intron|CD163_ENST00000432237.2_Intron Q86VB7 C163A_HUMAN CD163 molecule 579 SRCR 6. 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 TATCCTGGAAGGAGACAGGGC 0.488000 9 42 0 0 0.000442599 0 0 LEPR 3953 broad.mit.edu 37 1 66064414 66064414 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:66064414G>A ENST00000349533.6 + 8 1106 c.921G>A c.(919-921)caG>caA p.Q307Q LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.Q307Q|LEPR_ENST00000371060.3_Silent_p.Q307Q|LEPR_ENST00000344610.8_Silent_p.Q307Q|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Silent_p.Q307Q NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 307 Fibronectin type-III 1. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATGAGGTTCAGGTGAGGGGCA 0.443000 15 34 0 0 0.000308642 0 0 A1CF 29974 broad.mit.edu 37 10 52610476 52610476 + Missense_Mutation SNP T T G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:52610476T>G ENST00000395489.2 - 5 423 c.27A>C c.(25-27)aaA>aaC p.K9N A1CF_ENST00000373995.3_Missense_Mutation_p.K24N|A1CF_ENST00000374001.1_Intron|A1CF_ENST00000282641.2_Intron|A1CF_ENST00000373997.3_Intron|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373993.1_Intron NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 0 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TATTTCCTTTTTTGAGGCCAG 0.438000 16 68 0 0 0.00074312 0 0 AP4B1 10717 broad.mit.edu 37 1 114442652 114442652 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:114442652G>A ENST00000369569.1 - 5 1268 c.988C>T c.(988-990)Cta>Tta p.L330L AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.L162L|AP4B1_ENST00000369566.3_Silent_p.L237L|AP4B1_ENST00000256658.4_Silent_p.L330L NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 330 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTTTCTGTAGTTTGATGTAG 0.483000 83 144 0 0 0.000781405 0 0 BTK 695 broad.mit.edu 37 X 100615596 100615596 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chrX:100615596C>T ENST00000308731.7 - 8 899 c.736G>A c.(736-738)Gaa>Aaa p.E246K BTK_ENST00000372880.1_Missense_Mutation_p.E246K NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 246 SH3. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AAGTTGCTTTCCTCCAAGATA 0.473000 Agammaglobulinemia, X-linked 34 23 0 0 0.00058488 0 0 MMP14 4323 broad.mit.edu 37 14 23311622 23311622 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:23311622C>T ENST00000311852.6 + 4 645 c.384C>T c.(382-384)atC>atT p.I128I MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 128 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) ACCTCAGCATCCAGAATTACA 0.612000 6 5 0 0 3.59834e-05 0 0 GRIA4 2893 broad.mit.edu 37 11 105782607 105782607 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:105782607G>A ENST00000393125.2 + 11 1765 c.1275G>A c.(1273-1275)ctG>ctA p.L425L GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000393127.2_Intron|GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000428631.2_Silent_p.L425L|GRIA4_ENST00000282499.5_Intron NM_001077244.1 NP_001070712.1 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 0 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TTCAGCCTCTGATGAAGAATC 0.328000 21 24 0 0 0.000295444 0 0 MORC1 27136 broad.mit.edu 37 3 108677833 108677833 + Missense_Mutation SNP A A C TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:108677833A>C ENST00000232603.5 - 28 3016 c.2934T>G c.(2932-2934)aaT>aaG p.N978K MORC1_ENST00000483760.1_Missense_Mutation_p.N957K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 978 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 aagtcttttcatttttttcta 0.259000 9 13 0 0 0.000274275 0 0 HGF 3082 broad.mit.edu 37 7 81381436 81381436 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:81381436C>T ENST00000423064.2 - 5 758 c.625G>A c.(625-627)Ggt>Agt p.G209S HGF_ENST00000444829.2_Splice_Site_p.V209_splice|HGF_ENST00000457544.2_Splice_Site_p.V204_splice|HGF_ENST00000453411.1_Splice_Site_p.V204_splice|HGF_ENST00000222390.5_Splice_Site_p.V209_splice NM_001010934.1 NP_001010934.1 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 0 epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GTTTATTTACCTTCTGAACAC 0.443000 6 36 0 0 0.000157383 0 0 NTSR1 4923 broad.mit.edu 37 20 61386080 61386080 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:61386080C>T ENST00000370501.3 + 2 1129 c.758C>T c.(757-759)tCg>tTg p.S253L NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 253 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) GTGGTCATCTCGGTCCTGAAC 0.607000 23 73 0 0 0.000375601 0 0 RRP36 88745 broad.mit.edu 37 6 42996894 42996894 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:42996894G>A ENST00000244496.5 + 7 718 c.708G>A c.(706-708)gaG>gaA p.E236E NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 236 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 AGAAATTGGAGAACTTCTTGA 0.478000 180 51 0 0 0.000781405 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43968180 43968180 + Silent SNP C C T rs113125573 TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:43968180C>T ENST00000282406.4 + 21 3329 c.3219C>T c.(3217-3219)tcC>tcT p.S1073S NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1073 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ATGCAGATTCCAGGTGTGCAG 0.488000 20 52 0 0 0.000229342 0 0 COL4A5 1287 broad.mit.edu 37 X 107783035 107783035 + Splice_Site SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chrX:107783035G>A ENST00000328300.6 + 2 385 c.141_splice c.e2+1 p.K47_splice COL4A5_ENST00000361603.2_Splice_Site_p.K47_splice NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 47 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AAGGGGAAAAGGTGAGGTCTT 0.333000 Alport syndrome with Diffuse Leiomyomatosis 23 27 0 0 0.000878237 0 0 GRM7 2917 broad.mit.edu 37 3 7188320 7188320 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:7188320G>A ENST00000486284.1 + 2 975 c.701G>A c.(700-702)gGt>gAt p.G234D GRM7_ENST00000357716.4_Missense_Mutation_p.G234D|GRM7_ENST00000403881.1_Missense_Mutation_p.G234D|GRM7_ENST00000389336.4_Missense_Mutation_p.G234D|GRM7_ENST00000402647.2_Missense_Mutation_p.G234D NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 234 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) GGAGAGAAAGGTGTGGAGTCC 0.498000 11 32 0 0 0.000151284 0 0 TRRAP 8295 broad.mit.edu 37 7 98581893 98581893 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:98581893C>T ENST00000359863.4 + 60 9421 c.9212C>T c.(9211-9213)cCt>cTt p.P3071L TRRAP_ENST00000446306.3_Missense_Mutation_p.P3042L|TRRAP_ENST00000355540.3_Missense_Mutation_p.P3042L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3071 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCAACTGTTCCTATCGTGGAT 0.478000 28 63 0 0 0.000184323 0 0 SH2B1 25970 broad.mit.edu 37 16 28878039 28878039 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr16:28878039C>T ENST00000337120.5 + 1 3915 c.624C>T c.(622-624)acC>acT p.T208T SH2B1_ENST00000359285.5_Silent_p.T208T|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Silent_p.T208T|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Silent_p.T208T NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 208 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 GGGCTGGGACCGTTGGTAGGG 0.637000 9 16 0 0 0.000274275 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143447 61143447 + RNA SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:61143447C>T ENST00000475015.1 - 0 891 C20orf166-AS1_ENST00000412495.1_RNA GGACCCTCACCTTGACTGTGT 0.657000 14 23 0 0 0.000151284 0 0 ZEB2 9839 broad.mit.edu 37 2 145147101 145147101 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:145147101G>A ENST00000558170.2 - 10 4746 c.3562C>T c.(3562-3564)Cac>Tac p.H1188Y ZEB2_ENST00000409487.3_Missense_Mutation_p.H1188Y|ZEB2_ENST00000303660.4_Missense_Mutation_p.H1188Y|ZEB2_ENST00000539609.3_Missense_Mutation_p.H1164Y NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1188 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TCCATGGAGTGATCTCCAGTC 0.438000 71 90 0 0 0.000781405 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69009419 69009419 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:69009419G>A ENST00000295381.3 + 3 735 c.316G>A c.(316-318)Gaa>Aaa p.E106K ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E99K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E106K|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E99K|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E99K|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.E80K|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E106K NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 106 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 AAACCCAGAAGAAGCTGGGAA 0.443000 19 57 0 0 0.000295444 0 0 CCDC63 160762 broad.mit.edu 37 12 111311717 111311717 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:111311717C>T ENST00000308208.5 + 5 683 c.441C>T c.(439-441)ccC>ccT p.P147P CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Silent_p.P107P|CCDC63_ENST00000552694.1_Silent_p.P68P NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 147 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 CCAATAACCCCCGGAAACTGC 0.418000 48 76 0 0 0.000781405 0 0 LIPA 3988 broad.mit.edu 37 10 90986655 90986655 + Missense_Mutation SNP T T A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:90986655T>A ENST00000336233.5 - 5 857 c.535A>T c.(535-537)Ata>Tta p.I179L LIPA_ENST00000371837.1_Missense_Mutation_p.I123L|LIPA_ENST00000456827.1_Missense_Mutation_p.I179L P38571 LICH_HUMAN lipase A, lysosomal acid, cholesterol esterase 179 lipid catabolic process lysosome lipase activity|sterol esterase activity endometrium(1)|large_intestine(2)|lung(3) 6 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) TACATACCTATAGTGGTGCCT 0.313000 18 22 0 0 0.000958276 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22866942 22866942 + Missense_Mutation SNP T T A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:22866942T>A ENST00000283645.4 + 18 2589 c.2459T>A c.(2458-2460)aTt>aAt p.I820N TUBGCP5_ENST00000453949.2_Missense_Mutation_p.I820N NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 820 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TGTCAAAAAATTTATAATCAA 0.303000 10 82 0 0 0.000673444 0 0 BTNL8 79908 broad.mit.edu 37 5 180377476 180377476 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:180377476C>T ENST00000340184.4 + 8 1641 c.1435C>T c.(1435-1437)Cca>Tca p.P479S BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.P295S|BTNL8_ENST00000505126.1_Missense_Mutation_p.P272S|BTNL8_ENST00000400707.3_Missense_Mutation_p.P354S|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.P363S NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 479 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) CTCTGCAATCCCAGAGACAAG 0.512000 30 14 0 0 0.000491102 0 0 DAK 26007 broad.mit.edu 37 11 61113373 61113373 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:61113373G>A ENST00000394900.3 + 17 1759 c.1530G>A c.(1528-1530)aaG>aaA p.K510K NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 510 DhaL. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 AAGCCTGGAAGAGCCCAGGAG 0.617000 17 27 0 0 0.000958276 0 0 LAMB4 22798 broad.mit.edu 37 7 107708485 107708485 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:107708485C>T ENST00000388781.3 - 19 2505 c.2422G>A c.(2422-2424)Gat>Aat p.D808N LAMB4_ENST00000205386.4_Missense_Mutation_p.D808N|LAMB4_ENST00000388780.3_Missense_Mutation_p.D808N NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 808 Laminin EGF-like 6. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGCCCCAAATCATAGCTTCCA 0.552000 49 154 0 0 0.000781405 0 0 CEP250 11190 broad.mit.edu 37 20 34091513 34091513 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:34091513C>T ENST00000397527.1 + 30 6036 c.5316C>T c.(5314-5316)ctC>ctT p.L1772L CEP250_ENST00000342580.4_Silent_p.L1716L NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1772 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CCAGCCTCCTCCTGTCCCAGC 0.572000 19 36 0 0 0.00074312 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883978 228883978 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:228883978C>T ENST00000392056.3 - 7 1638 c.1592G>A c.(1591-1593)gGg>gAg p.G531E SPHKAP_ENST00000344657.5_Missense_Mutation_p.G531E NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 531 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) ACCACTGCTCCCTGGGGGAAA 0.512000 9 27 0 0 0.000274275 0 0 GMDS 2762 broad.mit.edu 37 6 1961196 1961196 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:1961196G>A ENST00000380815.4 - 5 619 c.350C>T c.(349-351)tCc>tTc p.S117F GMDS_ENST00000530927.1_Missense_Mutation_p.S87F NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 117 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) GAGGTCAAAGGAAATCTGGAA 0.468000 23 8 0 0 0.000229342 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310803 75310803 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:75310803C>T ENST00000361900.6 + 7 647 c.440C>T c.(439-441)tCg>tTg p.S147L SCAMP5_ENST00000568081.1_Missense_Mutation_p.S80L|SCAMP5_ENST00000562212.1_Missense_Mutation_p.S155L|SCAMP5_ENST00000545456.1_Missense_Mutation_p.S76L|SCAMP5_ENST00000425597.3_Missense_Mutation_p.S147L NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 147 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 AACATTGGCTCGGCGGTGGTG 0.582000 51 219 0 0 0.000781405 0 0 AUP1 550 broad.mit.edu 37 2 74754932 74754932 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:74754932G>A ENST00000377526.3 - 8 1081 c.772C>T c.(772-774)Cgg>Tgg p.R258W NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 324 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 GGAGTGAGCCGTGTCCCTGTC 0.532000 38 61 0 0 0.000270559 0 0 IPO5 3843 broad.mit.edu 37 13 98658579 98658579 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr13:98658579G>A ENST00000261574.5 + 17 1927 c.1747G>A c.(1747-1749)Ggt>Agt p.G583S IPO5_ENST00000539640.1_Missense_Mutation_p.G440S|IPO5_ENST00000490680.1_Missense_Mutation_p.G565S|IPO5_ENST00000493492.2_3'UTR NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 565 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 TAGCCTCATTGGTCTGGCTGT 0.353000 5 7 0 0 0.000602214 0 0 GRINA 2907 broad.mit.edu 37 8 145065397 145065397 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:145065397C>T ENST00000313269.5 + 2 284 c.6C>T c.(4-6)tcC>tcT p.S2S GRINA_ENST00000395068.4_Silent_p.S2S NM_000837.1 NP_000828.1 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 2 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 9 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGCCATGTCCCATGAAAAGA 0.617000 15 34 0 0 0.00074312 0 0 PLIN4 729359 broad.mit.edu 37 19 4513645 4513645 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:4513645C>T ENST00000301286.3 - 3 284 c.285G>A c.(283-285)ggG>ggA p.G95G NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 95 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CGCTGGCCACCCCGGAGGACA 0.627000 3 3 0 0 6.4e-05 0 0 RYR1 6261 broad.mit.edu 37 19 39023320 39023320 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:39023320C>T ENST00000355481.4 + 77 11319 c.11188C>T c.(11188-11190)Ctg>Ttg p.L3730L RYR1_ENST00000360985.3_Silent_p.L3735L|RYR1_ENST00000359596.3_Silent_p.L3735L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3735 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGCTGCCACCTGGAGGAGGG 0.617000 9 29 0 0 0.000978159 0 0 PRLR 5618 broad.mit.edu 37 5 35084616 35084616 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:35084616C>T ENST00000382002.5 - 5 755 c.329G>A c.(328-330)gGa>gAa p.G110E PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.G110E|PRLR_ENST00000513753.1_Missense_Mutation_p.G110E|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.G39E|PRLR_ENST00000348262.3_Missense_Mutation_p.G110E|PRLR_ENST00000310101.5_Missense_Mutation_p.G110E|PRLR_ENST00000231423.3_Missense_Mutation_p.G110E NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 110 Fibronectin type-III 1. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GAAACTGCTTCCCATCTGGTT 0.468000 41 79 0 0 0.000781405 0 0 MAP2K1 5604 broad.mit.edu 37 15 66727455 66727455 + Missense_Mutation SNP G G T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:66727455G>T ENST00000307102.5 + 2 702 c.171G>T c.(169-171)aaG>aaT p.K57N NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 57 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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 cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K57N(3) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 TTACCCAGAAGCAGAAGGTGG 0.542000 129 81 2.27795e-59 2.52874e-58 0.000781405 1 0 C2orf40 84417 broad.mit.edu 37 2 106694260 106694260 + Nonsense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:106694260C>T ENST00000409944.1 + 5 448 c.217C>T c.(217-219)Cga>Tga p.R73* C2orf40_ENST00000238044.3_Nonsense_Mutation_p.R109* Q9H1Z8 AUGN_HUMAN chromosome 2 open reading frame 40 109 extracellular region|transport vesicle p.R109R(1) lung(7)|urinary_tract(1) 8 TAACAGAGATCGAAATGGACA 0.453000 22 29 0 0 0.000878237 0 0 BCL9 607 broad.mit.edu 37 1 147094242 147094242 + Missense_Mutation SNP T T A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:147094242T>A ENST00000234739.3 + 9 3813 c.3073T>A c.(3073-3075)Tac>Aac p.Y1025N NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1025 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CACCCCGTTATACCATGATGC 0.483000 T """IGH@, IGL@""" B-ALL 27 64 0 0 0.000720815 0 0 GCN1L1 10985 broad.mit.edu 37 12 120595818 120595818 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:120595818G>A ENST00000300648.6 - 26 2934 c.2922C>T c.(2920-2922)tcC>tcT p.S974S NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 974 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGCTGGCGCGGACAAGGGCG 0.582000 16 32 0 0 0.000422831 0 0 FLG2 388698 broad.mit.edu 37 1 152327138 152327138 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:152327138C>T ENST00000388718.5 - 3 3196 c.3124G>A c.(3124-3126)Gga>Aga p.G1042R FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1042 Ser-rich. calcium ion binding|structural molecule activity p.G1042*(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCTGATCCATGTTGTCCA 0.488000 61 126 0 0 0.000781405 0 0 FXR2 9513 broad.mit.edu 37 17 7496150 7496150 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:7496150C>T ENST00000250113.7 - 14 1925 c.1591G>A c.(1591-1593)Gtt>Att p.V531I NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 531 cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) TCTGAATCAACCGGGGGCTCT 0.612000 18 30 0 0 0.000175454 0 0 ZDBF2 57683 broad.mit.edu 37 2 207146584 207146584 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:207146584G>A ENST00000374423.3 + 3 397 c.11G>A c.(10-12)aGa>aAa p.R4K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 4 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 ATGCAGAAAAGACAAGGATAT 0.338000 12 29 0 0 0.000566183 0 0 ERGIC1 57222 broad.mit.edu 37 5 172362241 172362241 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:172362241C>T ENST00000393784.3 + 9 832 c.693C>T c.(691-693)ttC>ttT p.F231F NM_001031711.2 NP_001026881.1 Q969X5 ERGI1_HUMAN endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 231 ER to Golgi vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2) 9 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAATCTGGTTCCGCTACGACC 0.582000 9 28 0 0 0.000673444 0 0 NFIX 4784 broad.mit.edu 37 19 13136080 13136080 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:13136080C>T ENST00000358552.3 + 1 270 c.270C>T c.(268-270)ttC>ttT p.F90F NFIX_ENST00000592199.1_Silent_p.F91F|NFIX_ENST00000360105.4_Silent_p.F94F|NFIX_ENST00000588228.1_Silent_p.F44F|NFIX_ENST00000397661.2_Silent_p.F91F|NFIX_ENST00000585575.1_Silent_p.F83F|NFIX_ENST00000587260.1_Silent_p.F90F|NFIX_ENST00000587760.1_Silent_p.F83F Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 91 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) GCGAGGACTTCGTGCTGACCA 0.652000 10 19 0 0 0.000978159 0 0 FXR2 9513 broad.mit.edu 37 17 7496151 7496151 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:7496151C>T ENST00000250113.7 - 14 1924 c.1590G>A c.(1588-1590)ccG>ccA p.P530P NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 530 cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) CTGAATCAACCGGGGGCTCTG 0.617000 19 31 0 0 0.000229342 0 0 MPP7 143098 broad.mit.edu 37 10 28420578 28420578 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:28420578C>T ENST00000337532.5 - 7 634 c.358G>A c.(358-360)Gac>Aac p.D120N MPP7_ENST00000445954.2_5'UTR|MPP7_ENST00000375732.1_Missense_Mutation_p.D120N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.D120N|MPP7_ENST00000540098.1_Missense_Mutation_p.D120N NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 120 L27 2. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AACACTGGGTCGTAATTCTTC 0.358000 33 24 0 0 0.000953801 0 0 CHD8 57680 broad.mit.edu 37 14 21861911 21861911 + Nonsense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:21861911G>A ENST00000399982.2 - 31 6107 c.6043C>T c.(6043-6045)Cag>Tag p.Q2015* CHD8_ENST00000557364.1_Nonsense_Mutation_p.Q2015*|CHD8_ENST00000430710.3_Nonsense_Mutation_p.Q1736* NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2015 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CTGGGGACCTGGGTAGCTGTC 0.582000 7 6 0 0 0.000157383 0 0 ITGAD 3681 broad.mit.edu 37 16 31425822 31425822 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr16:31425822C>T ENST00000389202.2 + 17 2096 c.2047C>T c.(2047-2049)Ctg>Ttg p.L683L NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 683 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CCCAGGTCGTCTGACTTCTCG 0.473000 69 142 0 0 0.000781405 0 0 FER1L6 654463 broad.mit.edu 37 8 125076649 125076649 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr8:125076649C>T ENST00000522917.1 + 26 3596 c.3390C>T c.(3388-3390)ccC>ccT p.P1130P FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.P1130P NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1130 integral to membrane p.P1130P(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCCAGGATCCCCCAGCAGATC 0.572000 41 75 0 0 0.000781405 0 0 ITIH1 3697 broad.mit.edu 37 3 52812491 52812491 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:52812491C>T ENST00000273283.2 + 3 298 c.274C>T c.(274-276)Ccc>Tcc p.P92S ITIH1_ENST00000542827.1_Missense_Mutation_p.P92S NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 92 VIT. 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) CCTGGAAATCCCCAAGACAGC 0.552000 14 36 0 0 0.000308642 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874255 24874255 + Nonsense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:24874255G>A ENST00000396432.2 - 26 5449 c.4963C>T c.(4963-4965)Cga>Tga p.R1655* NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1654 Interaction with CTNNA1. 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 AGTTTTCCTCGGAAAAGCCTC 0.502000 4 37 0 0 0.000157383 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769433 140769433 + Missense_Mutation SNP T T C TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:140769433T>C ENST00000519479.1 + 1 1982 c.1982T>C c.(1981-1983)gTc>gCc p.V661A PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCACCTGGTCTTCGCCGAC 0.657000 8 46 0 0 0.000274275 0 0 CACNA1D 776 broad.mit.edu 37 3 53694301 53694301 + Splice_Site SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:53694301C>T ENST00000288139.3 + 5 883 c.766_splice c.e5+1 p.P255_splice CACNA1D_ENST00000350061.5_Splice_Site_p.P255_splice|CACNA1D_ENST00000422281.2_Splice_Site_p.P255_splice NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 255 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) CAGGAGTGCCCAGTAAGCACT 0.512000 10 20 0 0 0.000978159 0 0 SLC4A10 57282 broad.mit.edu 37 2 162719562 162719562 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:162719562G>A ENST00000375514.5 + 7 1076 c.789G>A c.(787-789)atG>atA p.M263I SLC4A10_ENST00000446997.1_Missense_Mutation_p.M252I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.M252I|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.M252I|SLC4A10_ENST00000415876.2_Missense_Mutation_p.M252I|SLC4A10_ENST00000535165.1_Missense_Mutation_p.M252I NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 252 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CAAATTCCATGGACAAAAATG 0.338000 4 18 0 0 0.00024832 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602710 96602710 + Missense_Mutation SNP G G A rs144036596 byFrequency TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:96602710G>A ENST00000371321.3 + 7 1160 c.1078G>A c.(1078-1080)Gac>Aac p.D360N CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 360 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GAGATACATCGACCTCATCCC 0.537000 24 32 0 0 0.000586117 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85518179 85518179 + Nonsense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr12:85518179C>T ENST00000393217.2 + 17 3950 c.3889C>T c.(3889-3891)Cag>Tag p.Q1297* NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1297 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ATTAGTATGTCAGAAGAGAGA 0.408000 51 115 0 0 0.000781405 0 0 CUL9 23113 broad.mit.edu 37 6 43181465 43181465 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:43181465C>T ENST00000252050.4 + 29 5587 c.5503C>T c.(5503-5505)Cat>Tat p.H1835Y CUL9_ENST00000354495.3_Missense_Mutation_p.H1725Y|CUL9_ENST00000372647.2_Intron|CUL9_ENST00000502937.1_3'UTR NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1835 Missing (in Ref. 3; CAH18696). ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GCTGCGGCTTCATGAGCCTGG 0.612000 13 90 0 0 0.000308642 0 0 MOV10L1 54456 broad.mit.edu 37 22 50582642 50582642 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr22:50582642C>T ENST00000262794.5 + 18 2558 c.2475C>T c.(2473-2475)gtC>gtT p.V825V MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.V825V|MOV10L1_ENST00000545383.1_Silent_p.V825V|MOV10L1_ENST00000540615.1_Silent_p.V805V NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 825 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) CCACCATGGTCCGGGTGAACG 0.617000 12 23 0 0 0.000978159 0 0 CPLX4 339302 broad.mit.edu 37 18 56985686 56985686 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr18:56985686G>A ENST00000299721.3 - 1 195 c.9C>T c.(7-9)ttC>ttT p.F3F CPLX4_ENST00000587244.1_Silent_p.F3F NM_181654.3 NP_857637.1 Q7Z7G2 CPLX4_HUMAN complexin 4 3 exocytosis|neurotransmitter transport cell junction|synapse syntaxin binding autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 16 Colorectal(73;0.175) TTTTCATAAGGAAAGCCATTT 0.363000 17 20 0 0 0.000422831 0 0 FGFR4 2264 broad.mit.edu 37 5 176517623 176517623 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:176517623C>T ENST00000292408.4 + 3 569 c.324C>T c.(322-324)atC>atT p.I108I FGFR4_ENST00000292410.3_Silent_p.I108I|FGFR4_ENST00000393637.1_Silent_p.I108I|FGFR4_ENST00000502906.1_Silent_p.I108I|FGFR4_ENST00000393648.2_Silent_p.I108I NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 108 Ig-like C2-type 1. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) 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) Palifermin(DB00039) GCTCCATGATCGTCCTGCAGA 0.597000 TSP Lung(9;0.080) 7 16 0 0 8.12818e-05 0 0 OR51I1 390063 broad.mit.edu 37 11 5462628 5462628 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:5462628G>A ENST00000380211.1 - 1 116 c.117C>T c.(115-117)atC>atT p.I39I AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTACAATGGAGATCATGTAGA 0.522000 10 37 0 0 0.000673444 0 0 RAD54L2 23132 broad.mit.edu 37 3 51679118 51679118 + Missense_Mutation SNP T T G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:51679118T>G ENST00000409535.1 + 16 2654 c.2529T>G c.(2527-2529)gaT>gaG p.D843E RAD54L2_ENST00000296477.3_Missense_Mutation_p.D537E NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 843 Helicase C-terminal. nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CTTGCCATGATGCCCAGGCAG 0.483000 15 48 0 0 0.000566183 0 0 CSHL1 1444 broad.mit.edu 37 17 61987583 61987583 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr17:61987583G>A ENST00000450719.3 - 3 365 c.128C>T c.(127-129)tCg>tTg p.S43L CSHL1_ENST00000309894.5_Missense_Mutation_p.S137L|CSHL1_ENST00000259003.10_Missense_Mutation_p.S75L|CSHL1_ENST00000346606.6_Missense_Mutation_p.S43L|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000561003.1_Missense_Mutation_p.S54L|CSHL1_ENST00000438387.2_Missense_Mutation_p.S54L|CSHL1_ENST00000392824.4_3'UTR Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 137 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 ATCGCTGTCCGAGGTGTCATA 0.582000 14 20 0 0 0.000958276 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600066 3600066 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:3600066G>A ENST00000375190.4 - 2 960 c.567C>T c.(565-567)gcC>gcT p.A189A TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000411851.3_Silent_p.A189A|TBXA2R_ENST00000589966.1_Intron NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 189 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) CCCCGGACTCGGCGCCCAGCG 0.711000 5 16 0 0 0.000274275 0 0 AGBL1 123624 broad.mit.edu 37 15 87089299 87089299 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:87089299G>A ENST00000441037.2 + 19 2709 c.2614G>A c.(2614-2616)Gaa>Aaa p.E872K AGBL1_ENST00000421325.2_Missense_Mutation_p.E872K|AGBL1_ENST00000389298.3_Missense_Mutation_p.E603K NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 872 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 TAGCATCAAGGAAACCTTGTG 0.468000 11 62 0 0 0.00010058 0 0 MUC2 4583 broad.mit.edu 37 11 1094763 1094763 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:1094763C>T ENST00000441003.2 + 31 5878 c.5851C>T c.(5851-5853)Cca>Tca p.P1951S MUC2_ENST00000333592.6_Missense_Mutation_p.P239S|MUC2_ENST00000361558.6_Missense_Mutation_p.P89S NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1982 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AACGCCGACCCCACTCTCCAC 0.637000 39 50 0 0 0.000437636 0 0 SCN7A 6332 broad.mit.edu 37 2 167262185 167262185 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:167262185G>A ENST00000409855.1 - 25 5080 c.4954C>T c.(4954-4956)Cat>Tat p.H1652Y NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1652 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 TCTATCATATGAATATCTGAT 0.363000 62 100 0 0 0.000781405 0 0 ERO1L 30001 broad.mit.edu 37 14 53150624 53150624 + Splice_Site SNP A A G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr14:53150624A>G ENST00000395686.3 - 2 339 c.114_splice c.e2-1 p.V39_splice NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 39 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) GTAACCACTAACCTGTTACAA 0.358000 6 39 0 0 3.59834e-05 0 0 FAM135A 57579 broad.mit.edu 37 6 71235824 71235824 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr6:71235824C>T ENST00000418814.2 + 15 3651 c.3037C>T c.(3037-3039)Cct>Tct p.P1013S FAM135A_ENST00000457062.2_Missense_Mutation_p.P800S|FAM135A_ENST00000505769.1_Missense_Mutation_p.P593S|FAM135A_ENST00000361499.3_Missense_Mutation_p.P817S|FAM135A_ENST00000505868.1_Missense_Mutation_p.P1013S|FAM135A_ENST00000370479.3_Missense_Mutation_p.P800S NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 1013 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TTCAGAAATCCCTACAGTTGA 0.338000 59 22 0 0 0.000781405 0 0 TMC3 342125 broad.mit.edu 37 15 81625167 81625167 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:81625167G>A ENST00000558726.1 - 22 3034 c.2899C>T c.(2899-2901)Ctc>Ttc p.L967F RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.L966F|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 966 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 GCCCGACGGAGGTCTATCAGG 0.587000 4 22 0 0 0.000602214 0 0 C2orf53 339779 broad.mit.edu 37 2 27360866 27360866 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:27360866G>A ENST00000335524.3 - 3 857 c.332C>T c.(331-333)tCc>tTc p.S111F NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 111 Pro-rich. cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ggagggagaggatgcacgtgg 0.562000 4 3 0 0 0.00024832 0 0 MRPL1 65008 broad.mit.edu 37 4 78808385 78808385 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr4:78808385G>A ENST00000315567.8 + 5 827 c.498G>A c.(496-498)gaG>gaA p.E166E MRPL1_ENST00000506674.1_3'UTR NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 166 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 ATGCATCAGAGGTCAAAATAG 0.328000 7 18 0 0 8.12818e-05 0 0 GYG2 8908 broad.mit.edu 37 X 2772069 2772069 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chrX:2772069C>T ENST00000381163.3 + 5 573 c.291C>T c.(289-291)atC>atT p.I97I GYG2_ENST00000542787.1_Silent_p.I97I|GYG2_ENST00000338623.5_Silent_p.I97I|GYG2_ENST00000398806.3_Silent_p.I66I|GYG2_ENST00000381161.1_3'UTR NM_001079855.1|NM_001184702.1|NM_003918.2 NP_001073324.1|NP_001171631.1|NP_003909.2 O15488 GLYG2_HUMAN glycogenin 2 97 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 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) TGAATCTAATCGATAGTGCCG 0.502000 18 15 0 0 0.000175454 0 0 IDE 3416 broad.mit.edu 37 10 94220977 94220977 + Missense_Mutation SNP T T A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr10:94220977T>A ENST00000265986.6 - 22 2850 c.2794A>T c.(2794-2796)Acc>Tcc p.T932S IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.T377S NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 932 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTTCCTTGGTAAGTGTCTTT 0.323000 46 207 0 0 0.000781405 0 0 DISC1 27185 broad.mit.edu 37 1 231830537 231830537 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:231830537C>T ENST00000439617.2 + 2 1086 c.1033C>T c.(1033-1035)Cgg>Tgg p.R345W DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.R345W|DISC1_ENST00000535983.1_Missense_Mutation_p.R345W|DISC1_ENST00000317586.4_Missense_Mutation_p.R345W|DISC1_ENST00000539444.1_Missense_Mutation_p.R345W|DISC1_ENST00000366633.3_Missense_Mutation_p.R345W|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.R345W|DISC1_ENST00000602281.1_Missense_Mutation_p.R345W NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 345 Interaction with TRAF3IP1. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GCTGAGAAACCGGAGGCAGAT 0.612000 5 13 0 0 0.000602214 0 0 BDP1 55814 broad.mit.edu 37 5 70805913 70805913 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:70805913C>T ENST00000358731.4 + 17 3257 c.2994C>T c.(2992-2994)ggC>ggT p.G998G 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 998 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) GGGAAAATGGCCCAGAGGAGG 0.463000 17 32 0 0 0.000958276 0 0 CFTR 1080 broad.mit.edu 37 7 117227832 117227832 + Missense_Mutation SNP G G A rs113993959 byFrequency TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr7:117227832G>A ENST00000003084.6 + 12 1756 c.1624G>A c.(1624-1626)Gga>Aga p.G542R CFTR_ENST00000454343.1_Missense_Mutation_p.G481R NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 542 ABC transporter 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) TATAGTTCTTGGAGAAGGTGG 0.358000 Cystic Fibrosis 17 23 0 0 0.000958276 0 0 TRAF1 7185 broad.mit.edu 37 9 123673690 123673690 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr9:123673690G>A ENST00000373887.3 - 6 3252 c.807C>T c.(805-807)ttC>ttT p.F269F TRAF1_ENST00000540010.1_Silent_p.F269F|TRAF1_ENST00000546084.1_Silent_p.F147F NM_005658.4 NP_005649.1 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 269 MATH. apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 TCTTCCACAGGAAAGTGCCAT 0.622000 8 6 0 0 0.000157383 0 0 TMC5 79838 broad.mit.edu 37 16 19485576 19485576 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr16:19485576G>A ENST00000396229.2 + 12 2817 c.2068G>A c.(2068-2070)Gaa>Aaa p.E690K TMC5_ENST00000564959.1_Missense_Mutation_p.E373K|TMC5_ENST00000561503.1_Missense_Mutation_p.E331K|TMC5_ENST00000542583.2_Missense_Mutation_p.E690K|TMC5_ENST00000541464.1_Missense_Mutation_p.E638K|TMC5_ENST00000219821.5_Missense_Mutation_p.E444K|TMC5_ENST00000381414.4_Missense_Mutation_p.E690K NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 690 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCCACGGCACGAAGTCTACGT 0.527000 24 47 0 0 0.000375601 0 0 TICRR 90381 broad.mit.edu 37 15 90138635 90138635 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:90138635C>T ENST00000268138.7 + 7 1798 c.1693C>T c.(1693-1695)Cgt>Tgt p.R565C TICRR_ENST00000560985.1_Missense_Mutation_p.R564C TOPBP1-interacting checkpoint and replication regulator AGGGGTCCCTCGTACTCCAGT 0.438000 10 80 0 0 0.00010058 0 0 COL3A1 1281 broad.mit.edu 37 2 189868749 189868749 + Silent SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:189868749G>A ENST00000304636.3 + 39 2873 c.2703G>A c.(2701-2703)aaG>aaA p.K901K COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 901 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTCCAGGCAAGGATGGGCCCC 0.502000 12 2 0 0 0.000978159 0 0 BTBD2 55643 broad.mit.edu 37 19 1997393 1997393 + Silent SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:1997393C>T ENST00000255608.4 - 2 493 c.477G>A c.(475-477)acG>acA p.T159T BTBD2_ENST00000590646.1_5'UTR NM_017797.3 NP_060267.2 Q9BX70 BTBD2_HUMAN BTB (POZ) domain containing 2 159 BTB. cytoplasmic mRNA processing body protein binding endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCAATCTCCGTGGATGTTG 0.622000 28 49 0 0 0.00106085 0 0 TDGF1 6997 broad.mit.edu 37 3 46620758 46620758 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:46620758G>A ENST00000296145.5 + 3 858 c.125G>A c.(124-126)gGa>gAa p.G42E TDGF1_ENST00000542931.1_Missense_Mutation_p.G26E|LRRC2_ENST00000296144.3_Intron NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 42 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CCATCTCGGGGATACCTGGCC 0.517000 15 31 0 0 0.000308642 0 0 AHNAK 79026 broad.mit.edu 37 11 62291166 62291166 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:62291166G>A ENST00000378024.4 - 5 10997 c.10723C>T c.(10723-10725)Cca>Tca p.P3575S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3575 nervous system development nucleus protein binding p.P3575S(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCAACCTCTGGCCCTTTCAGA 0.468000 56 101 0 0 0.000781405 0 0 DRD2 1813 broad.mit.edu 37 11 113283545 113283545 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr11:113283545C>T ENST00000362072.3 - 7 1215 c.871G>A c.(871-873)Gag>Aag p.E291K DRD2_ENST00000346454.3_Missense_Mutation_p.E262K|DRD2_ENST00000542968.1_Missense_Mutation_p.E291K|DRD2_ENST00000538967.1_Missense_Mutation_p.E293K|DRD2_ENST00000355319.2_Missense_Mutation_p.E293K|DRD2_ENST00000544518.1_Missense_Mutation_p.E290K NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 291 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CGGGTCCTCTCGGGTGGGCTG 0.677000 9 38 0 0 0.000673444 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143446 61143446 + RNA SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr20:61143446C>T ENST00000475015.1 - 0 892 C20orf166-AS1_ENST00000412495.1_RNA GGGACCCTCACCTTGACTGTG 0.662000 14 23 0 0 0.000151284 0 0 RYR2 6262 broad.mit.edu 37 1 237868530 237868530 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:237868530G>A ENST00000366574.2 + 67 9784 c.9467G>A c.(9466-9468)gGa>gAa p.G3156E RYR2_ENST00000542537.1_Missense_Mutation_p.G3140E|RYR2_ENST00000360064.6_Missense_Mutation_p.G3154E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3156 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTGCATTAGGAGAATGTCTA 0.348000 4 23 0 0 0.000602214 0 0 HERC2 8924 broad.mit.edu 37 15 28386959 28386959 + Missense_Mutation SNP T T G TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:28386959T>G ENST00000261609.7 - 77 11842 c.11734A>C c.(11734-11736)Agc>Cgc p.S3912R NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3912 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATGTTTTCGCTGTCTGCCATT 0.328000 45 248 0 0 0.000781405 0 0 MAP3K2 10746 broad.mit.edu 37 2 128081558 128081558 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:128081558G>A ENST00000409947.1 - 11 1040 c.758C>T c.(757-759)cCt>cTt p.P253L MAP3K2_ENST00000344908.5_Missense_Mutation_p.P253L Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 253 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) CTCAAAGATAGGGTTATCATA 0.259000 7 11 0 0 8.12818e-05 0 0 TBC1D5 9779 broad.mit.edu 37 3 17202654 17202654 + Missense_Mutation SNP G G A TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr3:17202654G>A ENST00000253692.7 - 22 3853 c.2189C>T c.(2188-2190)tCc>tTc p.S730F TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S752F|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S730F NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 730 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GCCGGAGAAGGAGCCCCTGGC 0.572000 10 22 0 0 0.000442599 0 0 RUSC1 23623 broad.mit.edu 37 1 155295247 155295247 + Frame_Shift_Del DEL C C - TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr1:155295247delC ENST00000368352.5 + 5 1825 c.1674delC c.(1672-1674)agfs p.S558fs RUSC1_ENST00000368347.4_Frame_Shift_Del_p.S148fs|RUSC1_ENST00000368349.4_Frame_Shift_Del_p.S89fs|RUSC1_ENST00000368354.3_Frame_Shift_Del_p.S558fs|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Frame_Shift_Del_p.S89fs NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 558 RUN. cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) GCAGGAGCAGCCCCTGGAGCG 0.721 OREG0013860 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- LOC150776 150776 broad.mit.edu 37 2 132266282 132266282 + RNA DEL G G - rs74537446 TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr2:132266282delG ENST00000438378.2 + 0 1234 NR_026922.1 GCTGGATGGTGGGAAGCAGAA 0.547 2 4 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 3 3 --- --- --- --- FMN1 342184 broad.mit.edu 37 15 33359256 33359256 + Frame_Shift_Del DEL A A - rs34563484 TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr15:33359256delA ENST00000334528.9 - 1 829 c.830delT c.(829-831)tcfs p.F277fs FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Frame_Shift_Del_p.F277fs NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 400 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) AAGCCCACTGAAAAAAGCTGG 0.468 58 44 --- --- --- --- SNRNP70 6625 broad.mit.edu 37 19 49611383 49611384 + Frame_Shift_Del DEL GG GG - TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa448bd-3234-4b4d-918f-0c157c847512 334de3b8-4b3a-4e80-8d9f-4d81b1143139 g.chr19:49611383_49611384delGG ENST00000221448.5 + 10 1166_1167 c.970_971delGG c.(970-972)gfs p.G324fs SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.G333fs NM_003089.4 NP_003080.2 P08621 RU17_HUMAN small nuclear ribonucleoprotein 70kDa (U1) 333 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 TGGGCCTCCAGGGGAGCTCGGG 0.762 2 4 --- --- --- ---