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 EPB41L2 2037 broad.mit.edu 37 6 131201289 131201289 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:131201289A>G ENST00000337057.3 - 13 2072 c.1891T>C c.(1891-1893)Ttg>Ctg p.L631L EPB41L2_ENST00000368128.2_Silent_p.L631L|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Silent_p.L30L|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Silent_p.L30L NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 631 Spectrin--actin-binding. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CAAACCTCCAACATTAAATTG 0.428000 8 27 0 0 0.004482 0 0 CDCA5 113130 broad.mit.edu 37 11 64846868 64846868 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:64846868G>A ENST00000275517.3 - 5 807 c.635C>T c.(634-636)cCc>cTc p.P212L CDCA5_ENST00000404147.3_Missense_Mutation_p.P212L NM_080668.3 NP_542399.1 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 212 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CTGTTTCTCGGGTGGTGGGGA 0.572000 14 50 0 0 0.004007 0 0 NRXN2 9379 broad.mit.edu 37 11 64421181 64421181 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:64421181G>A ENST00000265459.6 - 12 2864 c.2403C>T c.(2401-2403)gtC>gtT p.V801V NRXN2_ENST00000377559.3_Intron|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Silent_p.V801V|NRXN2_ENST00000409571.1_Silent_p.V794V NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 801 Laminin G-like 4. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GTGCGCAGCCGACGCGCAGGC 0.572000 4 16 0 0 0.001984 0 0 XIRP2 129446 broad.mit.edu 37 2 168102837 168102837 + Silent SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:168102837T>C ENST00000409195.1 + 9 5024 c.4935T>C c.(4933-4935)acT>acC p.T1645T XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T1645T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T1423T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1470 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 ACAGATCAACTGAATTTCATG 0.323000 13 37 0 0 0.001855 0 0 CTRC 11330 broad.mit.edu 37 1 15772186 15772186 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:15772186C>T ENST00000375949.4 + 7 760 c.734C>T c.(733-735)aCc>aTc p.T245I CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 245 Peptidase S1. proteolysis serine-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGCTGCAACACCCGCAAGAAG 0.642000 35 75 0 0 0.006999 0 0 KDM5B 10765 broad.mit.edu 37 1 202722118 202722118 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:202722118G>A ENST00000367265.3 - 12 2780 c.1616C>T c.(1615-1617)cCa>cTa p.P539L KDM5B_ENST00000367264.2_Missense_Mutation_p.P575L NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 539 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 AAAGAGTTCTGGAGCTAGTTT 0.453000 8 64 0 0 0.004482 0 0 OR6C74 254783 broad.mit.edu 37 12 55641320 55641320 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:55641320G>A ENST00000343870.4 + 1 339 c.249G>A c.(247-249)atG>atA p.M83I NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTGTTAGTATGGCAACAGGTG 0.388000 62 163 0 0 0.003610 0 0 TPM4 7171 broad.mit.edu 37 19 16178477 16178477 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:16178477A>G ENST00000538887.1 + 1 130 c.43A>G c.(43-45)Aag>Gag p.K15E TPM4_ENST00000344824.6_Missense_Mutation_p.K15E P67936 TPM4_HUMAN tropomyosin 4 140 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) breast(1)|large_intestine(3) 4 GAAGTTGGACAAGGAGAATGC 0.667000 T ALK ALCL 13 46 0 0 0.004007 0 0 KCNA5 3741 broad.mit.edu 37 12 5154633 5154633 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:5154633C>T ENST00000252321.3 + 1 1549 c.1320C>T c.(1318-1320)ttC>ttT p.F440F NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 440 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TCATCTTCTTCCTCTTCATCG 0.587000 11 32 0 0 0.003163 0 0 SLC27A6 28965 broad.mit.edu 37 5 128365326 128365326 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:128365326G>A ENST00000262462.4 + 9 2619 c.1609G>A c.(1609-1611)Gat>Aat p.D537N SLC27A6_ENST00000395266.1_Missense_Mutation_p.D537N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.D537N Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 537 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TACATCTTTAGATTTGGAAAA 0.299000 18 34 0 0 0.008871 0 0 RELN 5649 broad.mit.edu 37 7 103126644 103126644 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:103126644C>T ENST00000424685.2 - 61 10142 c.9983_splice c.e61+1 p.S3328_splice RELN_ENST00000343529.5_Splice_Site_p.S3328_splice|RELN_ENST00000428762.1_Splice_Site_p.S3328_splice|RELN_ENST00000473945.1_5'UTR|CTB-107G13.1_ENST00000422488.1_RNA P78509 RELN_HUMAN reelin 3328 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GTTTGGGTACCTTGCTCGAGT 0.488000 69 24 0 0 0.003610 0 0 GCN1L1 10985 broad.mit.edu 37 12 120580452 120580452 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:120580452G>A ENST00000300648.6 - 44 5700 c.5688C>T c.(5686-5688)acC>acT p.T1896T NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1896 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) CCACCAGCTGGGTGTCTGAGC 0.622000 19 47 0 0 0.003330 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630921 74630921 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:74630921G>A ENST00000358632.4 - 8 1646 c.951C>T c.(949-951)ttC>ttT p.F317F CYP11A1_ENST00000268053.6_Silent_p.F475F|CYP11A1_ENST00000419019.2_Silent_p.F317F NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 475 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CATTGATGAGGAAGATGGTCA 0.567000 89 61 0 0 0.003610 0 0 FAM193B 54540 broad.mit.edu 37 5 176958472 176958472 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:176958472G>A ENST00000443375.2 - 7 2545 c.987C>T c.(985-987)ctC>ctT p.L329L FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000329540.5_5'UTR Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 425 kidney(1)|large_intestine(3) 4 GCCTCGAGCGGAGCTTCTCCC 0.697000 10 8 0 0 0.001855 0 0 OR5D16 390144 broad.mit.edu 37 11 55606440 55606440 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:55606440G>A ENST00000378396.1 + 1 213 c.213G>A c.(211-213)gtG>gtA p.V71V NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TCTCCTTTGTGGATTTCTGCT 0.413000 48 93 0 0 0.003610 0 0 LGR6 59352 broad.mit.edu 37 1 202279388 202279388 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:202279388G>A ENST00000367278.3 + 16 1559 c.1470G>A c.(1468-1470)aaG>aaA p.K490K LGR6_ENST00000255432.7_Silent_p.K438K|LGR6_ENST00000439764.2_Silent_p.K351K NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 490 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GCTTCTTCAAGGCCTCTGGGC 0.582000 26 115 0 0 0.006320 0 0 MYH7 4625 broad.mit.edu 37 14 23896993 23896993 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:23896993G>A ENST00000355349.3 - 16 1851 c.1689C>T c.(1687-1689)ttC>ttT p.F563F NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 563 Myosin head-like. 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) GTGGCTTCTGGAAGTTGGCGG 0.542000 23 62 0 0 0.002299 0 0 PEBP1 5037 broad.mit.edu 37 12 118582456 118582456 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:118582456C>T ENST00000261313.2 + 4 764 c.412C>T c.(412-414)Ctc>Ttc p.L138F PEBP1_ENST00000542939.1_3'UTR NM_002567.2 NP_002558.1 P30086 PEBP1_HUMAN phosphatidylethanolamine binding protein 1 138 ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGAGCCCATCCTCAGCAACCG 0.587000 9 15 0 0 0.004482 0 0 MMP10 4319 broad.mit.edu 37 11 102650443 102650443 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:102650443C>A ENST00000279441.4 - 2 175 c.139G>T c.(139-141)Gat>Tat p.D47Y NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 47 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TGTTTCACATCCTTTTCGAGG 0.353000 11 38 2.27111e-07 2.61765e-07 0.001368 1 0 ZNF432 9668 broad.mit.edu 37 19 52537010 52537010 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:52537010A>T ENST00000594154.1 - 5 2134 c.1922T>A c.(1921-1923)aTt>aAt p.I641N ZNF432_ENST00000221315.5_Missense_Mutation_p.I641N O94892 ZN432_HUMAN zinc finger protein 432 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) CTGATGTACAATGAGATTTCT 0.403000 41 123 0 0 0.002522 0 0 PRKAG2 51422 broad.mit.edu 37 7 151262925 151262925 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:151262925T>C ENST00000287878.4 - 12 1784 c.1280A>G c.(1279-1281)gAg>gGg p.E427G PRKAG2_ENST00000433631.2_Missense_Mutation_p.E302G|PRKAG2_ENST00000492843.1_Missense_Mutation_p.E303G|PRKAG2_ENST00000418337.2_Missense_Mutation_p.E186G|PRKAG2_ENST00000392801.2_Missense_Mutation_p.E383G NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit 427 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) TATTCCAAGCTCATCCAGGTT 0.438000 19 165 0 0 0.001882 0 0 NLRP14 338323 broad.mit.edu 37 11 7065201 7065201 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:7065201C>T ENST00000299481.4 + 4 2290 c.1944C>T c.(1942-1944)ctC>ctT p.L648L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 648 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AAACAAGCCTCCCAACTAACA 0.473000 23 58 0 0 0.003954 0 0 SH2D7 646892 broad.mit.edu 37 15 78390783 78390783 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:78390783G>A ENST00000328828.5 + 4 490 c.490G>A c.(490-492)Gac>Aac p.D164N SH2D7_ENST00000409568.2_Missense_Mutation_p.D28N NM_001101404.1 NP_001094874.1 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 164 endometrium(2)|kidney(2)|lung(3) 7 GACCATCGTGGACCCAGAAAA 0.617000 57 38 0 0 0.003610 0 0 NOL10 79954 broad.mit.edu 37 2 10712246 10712246 + Missense_Mutation SNP G G A rs142436125 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:10712246G>A ENST00000345985.3 - 20 1978 c.1868C>T c.(1867-1869)tCg>tTg p.S623L NOL10_ENST00000538384.1_Missense_Mutation_p.S647L|NOL10_ENST00000542668.1_Missense_Mutation_p.S623L|NOL10_ENST00000381685.5_Missense_Mutation_p.S673L NM_001261394.1 NP_001248323.1 Q9BSC4 NOL10_HUMAN nucleolar protein 10 673 nucleolus Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) GTGTCCGGCCGAACGACGGAG 0.483000 70 171 0 0 0.003610 0 0 ZNF112 7665 broad.mit.edu 37 19 44831861 44831861 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:44831861G>A ENST00000354340.4 - 4 2500 c.2449C>T c.(2449-2451)Cat>Tat p.H817Y ZNF112_ENST00000536500.1_Missense_Mutation_p.H840Y|ZNF112_ENST00000337401.4_Missense_Mutation_p.H823Y NM_013380.3 NP_037512.3 zinc finger protein 112 ACTCTGTGATGGGCTTGAAGA 0.473000 37 114 0 0 0.006230 0 0 LMO7 4008 broad.mit.edu 37 13 76382250 76382250 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:76382250C>T ENST00000357063.3 + 11 3247 c.1987C>T c.(1987-1989)Ccc>Tcc p.P663S LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.P378S|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.P378S|LMO7_ENST00000377534.3_Missense_Mutation_p.P663S Q8WWI1 LMO7_HUMAN LIM domain 7 663 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CACCCCTGGCCCCTGCAGTGA 0.532000 6 32 0 0 0.001168 0 0 PCDH15 65217 broad.mit.edu 37 10 55582354 55582354 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:55582354G>A ENST00000361849.3 - 34 5532 c.5138C>T c.(5137-5139)tCa>tTa p.S1713L PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1711L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1708L|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1688L|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1642L|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1671L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1711 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) CCTAGAGAGTGAAGAATGTAA 0.398000 HNSCC(58;0.16) 10 17 0 0 0.006214 0 0 PRR23B 389151 broad.mit.edu 37 3 138739050 138739050 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:138739050C>T ENST00000329447.5 - 1 718 c.454G>A c.(454-456)Gaa>Aaa p.E152K MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 152 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TAGGCCTCTTCCTGGGCGGCG 0.647000 22 51 0 0 0.002299 0 0 SCN5A 6331 broad.mit.edu 37 3 38622442 38622442 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38622442C>T ENST00000413689.1 - 17 3401 c.3208G>A c.(3208-3210)Gag>Aag p.E1070K SCN5A_ENST00000333535.4_Missense_Mutation_p.E1070K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1070K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1070K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1070K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1070 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GACTCCTCCTCCGTGCCCAGG 0.627000 11 42 0 0 0.000978 0 0 ABAT 18 broad.mit.edu 37 16 8862722 8862722 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:8862722C>T ENST00000396600.2 + 11 1646 c.708C>T c.(706-708)atC>atT p.I236I ABAT_ENST00000567812.1_Silent_p.I251I|ABAT_ENST00000569156.1_Silent_p.I236I|ABAT_ENST00000425191.2_Silent_p.I236I|ABAT_ENST00000268251.8_Silent_p.I236I NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 236 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TTCACAAGATCGACATCCCTT 0.532000 76 94 0 0 0.003610 0 0 CPED1 79974 broad.mit.edu 37 7 120935629 120935629 + Missense_Mutation SNP C C T rs147434701 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:120935629C>T ENST00000310396.5 + 23 3471 c.3004C>T c.(3004-3006)Cat>Tat p.H1002Y NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 ATCGCCATATCATGTCAGAGG 0.378000 69 29 0 0 0.003610 0 0 RTTN 25914 broad.mit.edu 37 18 67692058 67692058 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:67692058G>A ENST00000255674.6 - 44 6136 c.5850C>T c.(5848-5850)gtC>gtT p.V1950V RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1950 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GCAAGACAGGGACAAGGTGAG 0.378000 18 30 0 0 0.007413 0 0 PRPF6 24148 broad.mit.edu 37 20 62658990 62658990 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:62658990T>G ENST00000535781.1 + 16 2231 c.2120T>G c.(2119-2121)cTt>cGt p.L707R ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 747 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) CCCCTGTGGCTTTTGCTCTCT 0.542000 18 183 0 0 0.007413 0 0 PTPN6 5777 broad.mit.edu 37 12 7064084 7064084 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:7064084C>T ENST00000456013.1 + 4 685 c.443C>T c.(442-444)tCt>tTt p.S148F PTPN6_ENST00000447931.2_Missense_Mutation_p.S109F|PTPN6_ENST00000399448.1_Missense_Mutation_p.S150F|PTPN6_ENST00000318974.9_Missense_Mutation_p.S148F NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 148 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 TTCGTGCTTTCTGTGCTCAGT 0.657000 24 67 0 0 0.004656 0 0 PRIM1 5557 broad.mit.edu 37 12 57132269 57132269 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:57132269C>T ENST00000338193.6 - 11 1129 c.1093G>A c.(1093-1095)Gag>Aag p.E365K NM_000946.2 NP_000937.1 P49642 PRI1_HUMAN primase, DNA, polypeptide 1 (49kDa) 365 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm DNA primase activity|metal ion binding kidney(1)|lung(6)|prostate(1) 8 TCTTTTTCCTCTTCATTAGTG 0.358000 4 6 0 0 0.000602 0 0 SLC7A9 11136 broad.mit.edu 37 19 33324075 33324075 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:33324075C>T ENST00000023064.4 - 12 1570 c.1379G>A c.(1378-1380)gGa>gAa p.G460E SLC7A9_ENST00000590341.1_Missense_Mutation_p.G460E|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G460E NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 460 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) CTGAGCCCATCCAAACTTGTA 0.507000 30 74 0 0 0.008361 0 0 AGBL4 84871 broad.mit.edu 37 1 49332876 49332876 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:49332876C>T ENST00000371839.1 - 6 737 c.621G>A c.(619-621)acG>acA p.T207T AGBL4_ENST00000371836.1_Silent_p.T207T|AGBL4_ENST00000371838.1_Silent_p.T207T NM_032785.3 NP_116174.3 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 207 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) GGCTGGTTATCGTCAGGAGGT 0.488000 9 30 0 0 0.008291 0 0 MYH13 8735 broad.mit.edu 37 17 10253951 10253951 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10253951C>T ENST00000418404.3 - 11 1229 c.1066G>A c.(1066-1068)Gga>Aga p.G356R MYH13_ENST00000570743.1_Missense_Mutation_p.G356R|MYH13_ENST00000252172.4_Missense_Mutation_p.G356R Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 356 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ATCACGGCTCCCGTCAGTTTG 0.512000 11 67 0 0 0.000978 0 0 VWA3B 200403 broad.mit.edu 37 2 98853161 98853161 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:98853161G>A ENST00000477737.1 + 19 2845 c.2641G>A c.(2641-2643)Gac>Aac p.D881N NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 881 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TCCCGTCCTGGACAAGCATGT 0.488000 58 146 0 0 0.003610 0 0 RTN1 6252 broad.mit.edu 37 14 60193935 60193935 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:60193935C>T ENST00000267484.5 - 3 1802 c.1467G>A c.(1465-1467)ccG>ccA p.P489P NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 489 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TGGGCTTCATCGGGGGTGAGT 0.721000 3 6 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9049121 9049121 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9049121C>T ENST00000397910.4 - 5 32713 c.32510G>A c.(32509-32511)tGg>tAg p.W10837* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10839 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGTTGTCCAGGGAACTGT 0.473000 39 95 0 0 0.004878 0 0 PDC 5132 broad.mit.edu 37 1 186415681 186415681 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:186415681T>A ENST00000391997.2 - 3 177 c.90A>T c.(88-90)agA>agT p.R30S PDC_ENST00000497198.1_5'UTR|PDC_ENST00000340129.5_Missense_Mutation_p.R30S NM_002597.4 NP_002588.3 P20941 PHOS_HUMAN phosducin 30 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) ATTTAAACTTTCTCCAATCAT 0.333000 12 45 0 0 0.002450 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20527462 20527462 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:20527462C>T ENST00000202677.6 - 24 3313 c.3171G>A c.(3169-3171)acG>acA p.T1057T NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1057 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GCCTTATGATCGTATTTAAGA 0.443000 5 31 0 0 0.000602 0 0 MYH8 4626 broad.mit.edu 37 17 10297626 10297626 + Silent SNP C C T rs140525529 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10297626C>T ENST00000403437.2 - 35 5200 c.5106G>A c.(5104-5106)agG>agA p.R1702R CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1702 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.R1702R(1) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGGCGATTTTCCTGCTTCTCT 0.567000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 28 45 0 0 0.009535 0 0 ENAM 10117 broad.mit.edu 37 4 71509241 71509241 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:71509241C>T ENST00000396073.3 + 9 2379 c.2098C>T c.(2098-2100)Ctt>Ttt p.L700F ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 700 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AAAGGAATATCTTCCCTATTC 0.388000 10 45 0 0 0.008291 0 0 COL4A1 1282 broad.mit.edu 37 13 110831369 110831369 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:110831369G>A ENST00000375820.4 - 31 2480 c.2359C>T c.(2359-2361)Cct>Tct p.P787S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 787 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGCAATCCAGGAGGTCCCGGT 0.622000 4 16 0 0 0.000602 0 0 UGT2B7 7364 broad.mit.edu 37 4 69964396 69964396 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:69964396C>T ENST00000305231.7 + 2 906 c.860C>T c.(859-861)cCc>cTc p.P287L UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.P287L NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 287 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCTGCCAAACCCCTGCCTAAG 0.373000 18 134 0 0 0.008871 0 0 IQCH 64799 broad.mit.edu 37 15 67664767 67664767 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:67664767C>T ENST00000335894.4 + 9 1138 c.1072C>T c.(1072-1074)Ctt>Ttt p.L358F IQCH_ENST00000360277.4_Missense_Mutation_p.L110F|IQCH_ENST00000546225.1_Missense_Mutation_p.L106F|IQCH_ENST00000358767.3_Missense_Mutation_p.L185F NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 358 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) GCTGATAAATCTTCCAGGGCA 0.468000 30 141 0 0 0.008361 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209294 71209294 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:71209294C>T ENST00000554752.2 - 6 1340 c.1341G>A c.(1339-1341)tgG>tgA p.W447* MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.W447*|MAP3K9_ENST00000554146.1_Nonsense_Mutation_p.W184*|MAP3K9_ENST00000553414.1_Nonsense_Mutation_p.W141*|MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.W447* P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 447 Leucine-zipper 1. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCTCCTCCTCCCAGGTGCGAA 0.637000 11 17 0 0 0.001368 0 0 CCDC73 493860 broad.mit.edu 37 11 32636355 32636355 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:32636355C>T ENST00000335185.5 - 16 1552 c.1509G>A c.(1507-1509)tcG>tcA p.S503S NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 503 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) CCGTAACATTCGAGGTTTGTC 0.323000 22 60 0 0 0.001882 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887392 12887392 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:12887392G>A ENST00000535591.1 - 3 660 c.465C>T c.(463-465)atC>atT p.I155I NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 155 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGATGCTTCTGATATTGCGGA 0.468000 105 261 0 0 0.003610 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955718 18955718 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:18955718C>T ENST00000302797.3 - 1 838 c.614G>A c.(613-615)gGa>gAa p.G205E MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 205 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CTTCCGGGATCCACAGAGAAT 0.512000 11 37 0 0 0.001368 0 0 LOC286059 286059 broad.mit.edu 37 8 22938908 22938908 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:22938908G>A ENST00000501897.1 + 0 412 NR_038873.1 ATCCCTTCAGGAAACCAGAGC 0.478000 6 16 0 0 0.001984 0 0 PLCH1 23007 broad.mit.edu 37 3 155222400 155222400 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:155222400C>T ENST00000460012.1 - 13 1915 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K PLCH1_ENST00000494598.1_Missense_Mutation_p.E538K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E520K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E538K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E520K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E538K Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 538 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTTCCACTTTCCTTTACATCT 0.343000 20 45 0 0 0.002299 0 0 GRID1 2894 broad.mit.edu 37 10 87966200 87966200 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:87966200G>A ENST00000327946.7 - 3 526 c.441C>T c.(439-441)gtC>gtT p.V147V NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 147 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CATTGAGGCGGACGGGTGGTC 0.622000 Multiple Myeloma(13;0.14) 20 20 0 0 0.010504 0 0 IQGAP3 128239 broad.mit.edu 37 1 156509322 156509322 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:156509322G>A ENST00000361170.2 - 25 2910 c.2900C>T c.(2899-2901)cCc>cTc p.P967L NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 967 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGGTAGATGGGCTGAGTCTG 0.507000 15 37 0 0 0.003163 0 0 LZTS3 9762 broad.mit.edu 37 20 3147713 3147713 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:3147713G>A ENST00000329152.3 - 1 1494 c.97C>T c.(97-99)Ccc>Tcc p.P33S LZTS3_ENST00000337576.5_Missense_Mutation_p.P33S|LZTS3_ENST00000360342.3_Missense_Mutation_p.P33S NM_014731.2 NP_055546.1 GCCAGGCGGGGGTCCGGGGGT 0.711000 4 11 0 0 0.001168 0 0 AIFM2 84883 broad.mit.edu 37 10 71874039 71874039 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:71874039G>A ENST00000307864.1 - 9 1230 c.1017C>T c.(1015-1017)ggC>ggT p.G339G AIFM2_ENST00000373248.1_Silent_p.G339G NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 339 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 CACTGATTTGGCCCACACCGT 0.577000 22 15 0 0 0.001882 0 0 DNAH17 8632 broad.mit.edu 37 17 76498999 76498999 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:76498999C>T ENST00000389840.5 - 32 5163 c.5039G>A c.(5038-5040)aGg>aAg p.R1680K DNAH17_ENST00000585328.1_Missense_Mutation_p.R1681K|DNAH17-AS1_ENST00000598378.1_3'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCACTGCTCCCTCGGCTTCTC 0.627000 4 29 0 0 0.000602 0 0 NLRP5 126206 broad.mit.edu 37 19 56539225 56539225 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:56539225G>A ENST00000390649.3 + 7 1626 c.1626G>A c.(1624-1626)agG>agA p.R542R NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 542 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGTGGAATAGGAAGTCAGTGT 0.562000 8 27 0 0 0.004482 0 0 TMEM205 374882 broad.mit.edu 37 19 11453736 11453736 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:11453736G>A ENST00000354882.5 - 3 751 c.325C>T c.(325-327)Cgc>Tgc p.R109C TMEM205_ENST00000588560.1_Missense_Mutation_p.R109C|TMEM205_ENST00000447337.1_Missense_Mutation_p.R109C|TMEM205_ENST00000593256.2_Missense_Mutation_p.R109C|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000587948.1_Missense_Mutation_p.R109C|TMEM205_ENST00000586956.1_Missense_Mutation_p.R109C|TMEM205_ENST00000586590.1_Missense_Mutation_p.R109C|TMEM205_ENST00000586218.1_Missense_Mutation_p.R48C|TMEM205_ENST00000589555.1_Missense_Mutation_p.R109C Q6UW68 TM205_HUMAN transmembrane protein 205 109 integral to membrane endometrium(1)|lung(1) 2 GCTGTGGTGCGGGGTTCCAGC 0.657000 22 59 0 0 0.003954 0 0 NUTM1 256646 broad.mit.edu 37 15 34649616 34649616 + Missense_Mutation SNP G G A rs138691157 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:34649616G>A ENST00000537011.1 + 8 3789 c.3407G>A c.(3406-3408)cGa>cAa p.R1136Q NUTM1_ENST00000438749.3_Missense_Mutation_p.R1126Q|NUTM1_ENST00000333756.4_Missense_Mutation_p.R1108Q NUT midline carcinoma, family member 1 GGAGTAGTTCGACCCTCACAG 0.587000 16 51 0 0 0.007413 0 0 BRCA2 675 broad.mit.edu 37 13 32929059 32929059 + Silent SNP C C T rs80359636 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:32929059C>T ENST00000544455.1 + 14 7296 c.7069C>T c.(7069-7071)Ctg>Ttg p.L2357L BRCA2_ENST00000380152.3_Silent_p.L2357L NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2357 Interaction with FANCD2. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCAAGAATTTCTGTCTAAATC 0.343000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 19 22 0 0 0.008871 0 0 SCN2A 6326 broad.mit.edu 37 2 166243496 166243496 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:166243496G>A ENST00000357398.3 + 26 5082 c.4792G>A c.(4792-4794)Gat>Aat p.D1598N SCN2A_ENST00000375437.2_Missense_Mutation_p.D1598N|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1598N|SCN2A_ENST00000375427.2_Missense_Mutation_p.D1598N Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1598 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GAATATTTTTGATTTTGTGGT 0.338000 20 67 0 0 0.002299 0 0 WNK1 65125 broad.mit.edu 37 12 988837 988837 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:988837C>T ENST00000315939.6 + 11 3115 c.2472C>T c.(2470-2472)ttC>ttT p.F824F WNK1_ENST00000530271.2_Silent_p.F1322F|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Silent_p.F417F NM_018979.3 NP_061852.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 824 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTGCTCATTTCCTTCCAGTGG 0.542000 26 78 0 0 0.004656 0 0 BTNL3 10917 broad.mit.edu 37 5 180432655 180432655 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:180432655T>G ENST00000342868.6 + 8 1368 c.1184T>G c.(1183-1185)tTt>tGt p.F395C NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 395 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 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;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) AATCCCCATTTTATCAGCCTC 0.488000 10 42 0 0 0.000978 0 0 UBA6 55236 broad.mit.edu 37 4 68547871 68547871 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:68547871G>A ENST00000322244.4 - 3 254 c.195C>T c.(193-195)ttC>ttT p.F65F UBA6_ENST00000420827.2_Silent_p.F65F NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 65 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TCCCACTTAAGAAAACATGGG 0.348000 16 44 0 0 0.007413 0 0 DNAH7 56171 broad.mit.edu 37 2 196891640 196891640 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:196891640C>T ENST00000312428.6 - 7 611 c.511G>A c.(511-513)Gga>Aga p.G171R DNAH7_ENST00000410072.1_Missense_Mutation_p.G171R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 171 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GTATCAATTCCATGGTGAATA 0.333000 11 30 0 0 0.001855 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76569505 76569505 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:76569505T>A ENST00000307431.8 + 19 3201 c.2816T>A c.(2815-2817)aTg>aAg p.M939K CNTNAP4_ENST00000476707.1_Missense_Mutation_p.M943K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.M891K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.M867K|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 940 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TTGAATGGGATGACCCTGGAT 0.517000 25 29 0 0 0.006320 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188286 140188286 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140188286C>T ENST00000530339.1 + 1 1514 c.1514C>T c.(1513-1515)tCg>tTg p.S505L PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S505L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S505L NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCGCTGTCGAGCTACGTT 0.657000 23 42 0 0 0.002299 0 0 OR7C2 26658 broad.mit.edu 37 19 15053166 15053166 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:15053166A>T ENST00000248072.3 + 1 866 c.866A>T c.(865-867)tAc>tTc p.Y289F NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) CCCTTCATCTACAGCCTGAGG 0.537000 26 73 0 0 0.003954 0 0 PRKG2 5593 broad.mit.edu 37 4 82070042 82070042 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:82070042G>A ENST00000395578.1 - 9 1266 c.1150C>T c.(1150-1152)Cga>Tga p.R384* PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Nonsense_Mutation_p.R384*|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.R384* Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 384 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 ACTCACTCTCGATCTATAACC 0.418000 27 138 0 0 0.006320 0 0 ZNF688 146542 broad.mit.edu 37 16 30583484 30583484 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:30583484G>A ENST00000395219.1 - 1 244 c.113C>T c.(112-114)tCg>tTg p.S38L ZNF688_ENST00000223459.6_5'UTR NM_001024683.1 NP_001019854.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 GATTGGCGACGATCCCGGAAG 0.592000 26 30 0 0 0.008361 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237111 30237111 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:30237111G>A ENST00000378988.4 + 2 515 c.414G>A c.(412-414)ctG>ctA p.L138L NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 138 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 GAGAAATGCTGAAAATTGTTG 0.458000 6 6 0 0 0.001168 0 0 NPY 4852 broad.mit.edu 37 7 24329192 24329192 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:24329192G>A ENST00000407573.1 + 4 553 c.263G>A c.(262-264)aGa>aAa p.R88K NPY_ENST00000242152.2_Missense_Mutation_p.R88K|NPY_ENST00000405982.1_Missense_Mutation_p.R88K P01303 NPY_HUMAN neuropeptide Y 88 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 AATGTTCCCAGAACTCGGTAT 0.488000 14 46 0 0 0.004007 0 0 OR1J2 26740 broad.mit.edu 37 9 125273643 125273643 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:125273643C>T ENST00000335302.5 + 1 563 c.563C>T c.(562-564)tCc>tTc p.S188F NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CTCAAGCTGTCCTGCTCAGAT 0.522000 29 39 0 0 0.006320 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20569971 20569971 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:20569971C>T ENST00000202677.6 - 18 2522 c.2380G>A c.(2380-2382)Gag>Aag p.E794K NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 794 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGCTGAGGCTCTGAAGAACTC 0.393000 6 10 0 0 0.001168 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125530564 125530564 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:125530564C>T ENST00000431078.1 + 17 3083 c.2719C>T c.(2719-2721)Cga>Tga p.R907* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 907 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GGGCCATTTTCGACTGCAGCT 0.537000 46 107 0 0 0.003610 0 0 BCL9L 283149 broad.mit.edu 37 11 118770888 118770888 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:118770888G>A ENST00000334801.3 - 7 4108 c.3144C>T c.(3142-3144)ggC>ggT p.G1048G BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1048 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TGCTCCGGGGGCCGCTAGGCG 0.627000 21 32 0 0 0.001882 0 0 TMEM205 374882 broad.mit.edu 37 19 11453737 11453737 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:11453737G>A ENST00000354882.5 - 3 750 c.324C>T c.(322-324)ccC>ccT p.P108P TMEM205_ENST00000588560.1_Silent_p.P108P|TMEM205_ENST00000447337.1_Silent_p.P108P|TMEM205_ENST00000593256.2_Silent_p.P108P|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000587948.1_Silent_p.P108P|TMEM205_ENST00000586956.1_Silent_p.P108P|TMEM205_ENST00000586590.1_Silent_p.P108P|TMEM205_ENST00000586218.1_Silent_p.P47P|TMEM205_ENST00000589555.1_Silent_p.P108P Q6UW68 TM205_HUMAN transmembrane protein 205 108 integral to membrane endometrium(1)|lung(1) 2 CTGTGGTGCGGGGTTCCAGCC 0.657000 22 59 0 0 0.003954 0 0 EXTL1 2134 broad.mit.edu 37 1 26361663 26361663 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:26361663G>A ENST00000374280.3 + 11 2723 c.1856G>A c.(1855-1857)gGg>gAg p.G619E NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 619 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TAGGCGCCTGGGGGCCCGGGG 0.622000 37 61 0 0 0.002852 0 0 MS4A4E 643680 broad.mit.edu 37 11 59997402 59997402 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:59997402T>C ENST00000528394.1 - 1 126 c.127A>G c.(127-129)Aaa>Gaa p.K43E MS4A4E_ENST00000398986.2_Missense_Mutation_p.K43E|MS4A4E_ENST00000526086.1_Missense_Mutation_p.K43E|MS4A4E_ENST00000425663.1_Missense_Mutation_p.K43E|MS4A4E_ENST00000427611.2_Silent_p.G18G|MS4A4E_ENST00000398984.2_Missense_Mutation_p.K43E membrane-spanning 4-domains, subfamily A, member 4E ovary(1) 1 ACTTTGGGTTTCCTCTTGAAG 0.458000 7 13 0 0 0.001984 0 0 GCN1L1 10985 broad.mit.edu 37 12 120585060 120585060 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:120585060G>A ENST00000300648.6 - 38 4755 c.4743C>T c.(4741-4743)ctC>ctT p.L1581L NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1581 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) GGGCATCCAGGAGGACTGGAG 0.557000 35 28 0 0 0.003271 0 0 GJB4 127534 broad.mit.edu 37 1 35227176 35227176 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:35227176G>A ENST00000339480.1 + 2 691 c.321G>A c.(319-321)ctG>ctA p.L107L RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 107 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGCACCACCTGAAACACGGGC 0.642000 23 30 0 0 0.002299 0 0 CYP4F3 4051 broad.mit.edu 37 19 15760723 15760723 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:15760723G>A ENST00000221307.7 + 7 696 c.647_splice c.e7-1 p.E216_splice CYP4F3_ENST00000586182.1_Splice_Site_p.E216_splice|CYP4F3_ENST00000585846.1_Splice_Site_p.E216_splice|CYP4F3_ENST00000591058.1_Splice_Site_p.E216_splice NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 216 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TATCCTGCAGGAAGCCCAGTG 0.493000 52 126 0 0 0.003610 0 0 SQLE 6713 broad.mit.edu 37 8 126017848 126017848 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:126017848C>T ENST00000265896.5 + 3 1524 c.626C>T c.(625-627)cCt>cTt p.P209L SQLE_ENST00000523430.1_Missense_Mutation_p.P114L NM_003129.3 NP_003120.2 Q14534 ERG1_HUMAN squalene epoxidase 209 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) GTTCAGATTCCTTACCCTCTG 0.453000 40 76 0 0 0.007835 0 0 TTN 7273 broad.mit.edu 37 2 179473616 179473616 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179473616G>A ENST00000589042.1 - 274 52346 c.52122C>T c.(52120-52122)atC>atT p.I17374I TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.I8434I|TTN_ENST00000342992.6_Silent_p.I14806I|TTN_ENST00000460472.2_Silent_p.I8309I|TTN_ENST00000342175.6_Silent_p.I8501I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.I15733I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15733 Fibronectin type-III 26. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATACAAAGTTGATTGGTGGTC 0.383000 39 105 0 0 0.002522 0 0 GPN1 11321 broad.mit.edu 37 2 27858050 27858050 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:27858050C>T ENST00000264718.3 + 7 536 c.515C>T c.(514-516)tCg>tTg p.S172L GPN1_ENST00000424214.1_Missense_Mutation_p.S79L|GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L|GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000461249.1_3'UTR NM_007266.3 NP_009197.2 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 158 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|large_intestine(1)|lung(12) 14 ATGGACACATCGAGAAGTACC 0.448000 19 43 0 0 0.001882 0 0 MUC16 94025 broad.mit.edu 37 19 9074179 9074179 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9074179A>T ENST00000397910.4 - 3 13470 c.13267T>A c.(13267-13269)Ttt>Att p.F4423I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4425 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GATTGCATAAAATCTGGAGTC 0.498000 56 124 0 0 0.003610 0 0 ZFP64 55734 broad.mit.edu 37 20 50701142 50701142 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:50701142G>A ENST00000361387.2 - 9 1952 c.1892C>T c.(1891-1893)tCc>tTc p.S631F ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.S412F NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CTGCCCCACGGAGACCAGGGT 0.597000 32 41 0 0 0.004878 0 0 SLC35F4 341880 broad.mit.edu 37 14 58060704 58060704 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:58060704C>T ENST00000556826.1 - 2 478 c.242G>A c.(241-243)gGa>gAa p.G81E SLC35F4_ENST00000339762.6_Missense_Mutation_p.G117E|SLC35F4_ENST00000554729.1_5'UTR NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCTGAGGATCCTTGGTTTTG 0.468000 21 39 0 0 0.002780 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664489 169664489 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:169664489C>T ENST00000483289.2 - 0 2805 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 CATACTTTTTCCTCTGCAAGG 0.522000 15 36 0 0 0.003163 0 0 HMCN1 83872 broad.mit.edu 37 1 186086187 186086187 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:186086187G>A ENST00000271588.4 + 76 11852 c.11623G>A c.(11623-11625)Gaa>Aaa p.E3875K HMCN1_ENST00000367492.2_Missense_Mutation_p.E3875K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3875 Ig-like C2-type 37. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGCAACCTATGAATGTACTGT 0.403000 34 43 0 0 0.002836 0 0 DDC 1644 broad.mit.edu 37 7 50605573 50605573 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:50605573C>T ENST00000444124.2 - 4 620 c.420G>A c.(418-420)ggG>ggA p.G140G AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Silent_p.G140G|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Silent_p.G140G|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.G140G NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 140 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TCACTCCTCCCCCTTCTCCAG 0.552000 18 55 0 0 0.007413 0 0 MYH13 8735 broad.mit.edu 37 17 10233724 10233724 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10233724G>A ENST00000418404.3 - 20 2578 c.2415C>T c.(2413-2415)ttC>ttT p.F805F MYH13_ENST00000570743.1_Silent_p.F805F|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.F805F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 805 IQ. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCATCTTCTTGAACTCCACCC 0.552000 5 22 0 0 0.001168 0 0 KIF21B 23046 broad.mit.edu 37 1 200973910 200973910 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:200973910G>A ENST00000332129.2 - 6 1200 c.884C>T c.(883-885)tCc>tTc p.S295F KIF21B_ENST00000360529.5_Missense_Mutation_p.S295F|KIF21B_ENST00000461742.2_Missense_Mutation_p.S295F|KIF21B_ENST00000422435.2_Missense_Mutation_p.S295F NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 295 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ACAGTTGATGGAGATGCCCTC 0.607000 18 26 0 0 0.002299 0 0 PPM1H 57460 broad.mit.edu 37 12 63226043 63226043 + Nonsense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:63226043T>A ENST00000228705.6 - 2 562 c.262A>T c.(262-264)Aag>Tag p.K88* NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 88 phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) TGTGTGCTCTTCCCGGCATTG 0.542000 5 22 0 0 0.001168 0 0 GPRASP2 114928 broad.mit.edu 37 X 101972234 101972234 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:101972234C>T ENST00000543253.1 + 5 3356 c.2437C>T c.(2437-2439)Cgt>Tgt p.R813C GPRASP2_ENST00000535209.1_Missense_Mutation_p.R813C|GPRASP2_ENST00000332262.5_Missense_Mutation_p.R813C NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 TTCTGCATTTCGTGAATTTGA 0.358000 63 41 0 0 0.003610 0 0 TELO2 9894 broad.mit.edu 37 16 1557342 1557342 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:1557342C>T ENST00000262319.6 + 19 2541 c.2262C>T c.(2260-2262)ttC>ttT p.F754F NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 754 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) TGCTGGAATTCGTGTGGGCCC 0.672000 9 17 0 0 0.006214 0 0 GPR39 2863 broad.mit.edu 37 2 133402928 133402928 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:133402928G>A ENST00000329321.3 + 2 1580 c.1111G>A c.(1111-1113)Gag>Aag p.E371K GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 371 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CGCCAACCACGAGAAGCGCCT 0.667000 20 40 0 0 0.007413 0 0 VPREB1 7441 broad.mit.edu 37 22 22599436 22599436 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:22599436C>T ENST00000403807.3 + 2 264 c.125C>T c.(124-126)aCc>aTc p.T42I VPREB1_ENST00000302273.2_Missense_Mutation_p.T41I P12018 VPREB_HUMAN pre-B lymphocyte 1 42 Complementarity-determining-1.|Ig-like V-type. immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) CTCACCTGCACCCTGAGGAAC 0.597000 35 67 0 0 0.006230 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559045 1559045 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:1559045C>T ENST00000381605.4 - 2 436 c.372G>A c.(370-372)cgG>cgA p.R124R SIRPB1_ENST00000262929.5_Silent_p.R123R|RP4-576H24.4_ENST00000564763.1_Silent_p.R124R|SIRPB1_ENST00000381603.3_Silent_p.R124R NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 124 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGCTCCCTTTCCGGAACTTCA 0.547000 66 120 0 0 0.003610 0 0 PNPLA1 285848 broad.mit.edu 37 6 36274124 36274124 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:36274124G>A ENST00000394571.2 + 7 1440 c.1440G>A c.(1438-1440)gtG>gtA p.V480V PNPLA1_ENST00000312917.5_Silent_p.V394V|PNPLA1_ENST00000388715.3_Silent_p.V385V NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 480 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 TGGTTCATGTGAAGGAAACCG 0.493000 33 78 0 0 0.004878 0 0 VPS72 6944 broad.mit.edu 37 1 151150580 151150580 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:151150580G>A ENST00000354473.4 - 5 640 c.604C>T c.(604-606)Cat>Tat p.H202Y VPS72_ENST00000496809.1_5'UTR NM_001271087.1|NM_005997.1 NP_001258016.1|NP_005988.1 Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 202 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGCTTCTTATGAACCTGCTTC 0.493000 10 50 0 0 0.006214 0 0 DNAH5 1767 broad.mit.edu 37 5 13721305 13721305 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13721305A>C ENST00000265104.4 - 71 12187 c.12083T>G c.(12082-12084)gTt>gGt p.V4028G NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4028 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTCTAAAATAACACCTTCGGC 0.473000 Kartagener syndrome 24 47 0 0 0.005443 0 0 SLC6A5 9152 broad.mit.edu 37 11 20676294 20676294 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:20676294G>A ENST00000525748.1 + 16 2547 c.2274G>A c.(2272-2274)tgG>tgA p.W758* SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 758 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AGCCGGACTGGGGCCCATTCT 0.557000 41 78 0 0 0.002522 0 0 REG3G 130120 broad.mit.edu 37 2 79255393 79255393 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:79255393C>T ENST00000272324.5 + 6 703 c.519C>T c.(517-519)ttC>ttT p.F173F REG3G_ENST00000393897.2_Silent_p.F173F|REG3G_ENST00000409471.1_Silent_p.F127F NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 173 acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCTGCAAGTTCAAGGACTAGG 0.478000 20 54 0 0 0.001882 0 0 RLF 6018 broad.mit.edu 37 1 40705671 40705671 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:40705671C>T ENST00000372771.4 + 8 5324 c.5297C>T c.(5296-5298)cCt>cTt p.P1766L NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1766 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ACTTACAAACCTATGGGATTT 0.363000 21 35 0 0 0.010504 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37126554 37126554 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:37126554C>T ENST00000336755.5 + 2 331 c.225C>T c.(223-225)atC>atT p.I75I ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Silent_p.I74I NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 75 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) AGAAGCTAATCGTCCTTTCAG 0.408000 55 62 0 0 0.003610 0 0 ATP10B 23120 broad.mit.edu 37 5 160063277 160063277 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:160063277G>A ENST00000327245.5 - 11 1886 c.1040C>T c.(1039-1041)cCc>cTc p.P347L CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 347 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACATCGAAGGGAGGGTGTTC 0.512000 20 55 0 0 0.001882 0 0 DNAH3 55567 broad.mit.edu 37 16 20975497 20975497 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:20975497C>T ENST00000261383.3 - 53 9708 c.9709G>A c.(9709-9711)Gaa>Aaa p.E3237K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3237 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCTTCAATTTCCTTGAGATGC 0.468000 49 60 0 0 0.003610 0 0 YLPM1 56252 broad.mit.edu 37 14 75265512 75265512 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:75265512C>T ENST00000325680.7 + 5 3636 c.3512C>T c.(3511-3513)cCa>cTa p.P1171L YLPM1_ENST00000238571.3_Missense_Mutation_p.P976L|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 976 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCATTCAGACCAGAACCAGGA 0.542000 13 43 0 0 0.002450 0 0 CHRDL2 25884 broad.mit.edu 37 11 74424495 74424495 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:74424495G>A ENST00000376332.3 - 3 721 c.225C>T c.(223-225)caC>caT p.H75H CHRDL2_ENST00000263671.5_Silent_p.H75H|CHRDL2_ENST00000534159.1_5'UTR NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 75 VWFC 1. cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) CAGGCGGACAGTGGAGGCGGT 0.592000 18 40 0 0 0.010504 0 0 PTK2B 2185 broad.mit.edu 37 8 27278190 27278190 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:27278190C>T ENST00000397501.1 + 9 1208 c.400C>T c.(400-402)Cgc>Tgc p.R134C PTK2B_ENST00000346049.5_Missense_Mutation_p.R134C|PTK2B_ENST00000338238.4_Missense_Mutation_p.R134C|PTK2B_ENST00000420218.2_Missense_Mutation_p.R134C|PTK2B_ENST00000517339.1_Missense_Mutation_p.R134C|PTK2B_ENST00000544172.1_Missense_Mutation_p.R134C NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 134 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CCTTCAAATCCGCTACTTGCC 0.493000 32 75 0 0 0.006230 0 0 DERL1 79139 broad.mit.edu 37 8 124033698 124033698 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:124033698G>A ENST00000259512.4 - 6 795 c.495C>T c.(493-495)atC>atT p.I165I DERL1_ENST00000523036.1_Silent_p.I65I|DERL1_ENST00000419562.2_Silent_p.I65I|DERL1_ENST00000519018.1_Silent_p.I65I|DERL1_ENST00000405944.3_Silent_p.I165I|RP11-557C18.3_ENST00000521258.1_RNA NM_001134671.1|NM_024295.4 NP_001128143.1|NP_077271.1 Q9BUN8 DERL1_HUMAN derlin 1 165 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 8 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AGCCTCCGATGATATAGTTGA 0.363000 28 68 0 0 0.009535 0 0 EYA1 2138 broad.mit.edu 37 8 72127689 72127689 + Silent SNP C C T rs147434089 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:72127689C>T ENST00000340726.3 - 16 2169 c.1530G>A c.(1528-1530)gcG>gcA p.A510A EYA1_ENST00000388743.2_Silent_p.A509A|EYA1_ENST00000388742.4_Silent_p.A510A|EYA1_ENST00000388740.3_Silent_p.A477A|EYA1_ENST00000419131.1_Silent_p.A475A|EYA1_ENST00000303824.7_Silent_p.A504A|EYA1_ENST00000388741.2_Silent_p.A476A NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 510 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCAGGACTTTCGCCAATGCTG 0.338000 31 66 0 0 0.005524 0 0 NOS1 4842 broad.mit.edu 37 12 117768659 117768659 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:117768659C>T ENST00000317775.6 - 2 901 c.216G>A c.(214-216)ttG>ttA p.L72L NOS1_ENST00000338101.4_Silent_p.L72L|NOS1_ENST00000344089.3_Silent_p.L72L NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 72 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCAGGTCCACCAAGGGCCGGC 0.622000 21 12 0 0 0.008871 0 0 NMBR 4829 broad.mit.edu 37 6 142399727 142399727 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:142399727G>A ENST00000258042.1 - 2 876 c.736C>T c.(736-738)Ctt>Ttt p.L246F NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 246 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TCTCCAGGAAGATTGTGTGCG 0.353000 9 33 0 0 0.004482 0 0 CYP2B6 1555 broad.mit.edu 37 19 41515906 41515906 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:41515906C>T ENST00000324071.4 + 6 837 c.830C>T c.(829-831)tCc>tTc p.S277F CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 277 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CAGGAGAAATCCAACGCACAC 0.592000 24 40 0 0 0.004656 0 0 HEATR5B 54497 broad.mit.edu 37 2 37235782 37235782 + Silent SNP G G A rs139581322 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:37235782G>A ENST00000233099.5 - 28 4589 c.4494C>T c.(4492-4494)gcC>gcT p.A1498A HEATR5B_ENST00000354531.2_Silent_p.A1498A NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1498 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) TAGAAAATTCGGCTGGTAAAG 0.383000 15 46 0 0 0.003163 0 0 LEPREL4 10609 broad.mit.edu 37 17 39959569 39959569 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:39959569G>A ENST00000355468.3 - 8 1727 c.1261C>T c.(1261-1263)Ccg>Tcg p.P421S LEPREL4_ENST00000393928.1_Missense_Mutation_p.P421S Q92791 SC65_HUMAN leprecan-like 4 421 Asp/Glu-rich (acidic). synaptonemal complex assembly nucleolus|synaptonemal complex binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 TTGGCATCCGGCTCCTGCCAC 0.632000 12 36 0 0 0.003163 0 0 INO80B 83444 broad.mit.edu 37 2 74684951 74684951 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:74684951G>A ENST00000233331.7 + 5 1125 c.1031G>A c.(1030-1032)gGg>gAg p.G344E NM_031288.3 NP_112578.2 Q9C086 IN80B_HUMAN INO80 complex subunit B 344 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|nucleolus metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 13 ATGCGGCTGGGGGGGCCCGAG 0.662000 16 34 0 0 0.006122 0 0 DNAH7 56171 broad.mit.edu 37 2 196774764 196774764 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:196774764C>T ENST00000312428.6 - 25 4191 c.4091G>A c.(4090-4092)gGa>gAa p.G1364E NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1364 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAAGAATTTTCCCAAAGCCAA 0.358000 23 38 0 0 0.003330 0 0 GREB1 9687 broad.mit.edu 37 2 11706631 11706631 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:11706631G>A ENST00000381486.2 + 4 603 c.303G>A c.(301-303)ctG>ctA p.L101L GREB1_ENST00000234142.5_Silent_p.L101L|GREB1_ENST00000263834.5_Silent_p.L101L|GREB1_ENST00000381483.2_Silent_p.L101L|GREB1_ENST00000389825.3_5'UTR NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 101 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGAAGGACCTGCGCCTTGTCT 0.642000 23 43 0 0 0.003330 0 0 XIRP2 129446 broad.mit.edu 37 2 168099418 168099418 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:168099418C>T ENST00000409195.1 + 9 1605 c.1516C>T c.(1516-1518)Cat>Tat p.H506Y XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H506Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H284Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 331 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 TAAACACATCCATCCTGAGTT 0.368000 12 25 0 0 0.000978 0 0 ZNF552 79818 broad.mit.edu 37 19 58320092 58320092 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:58320092G>A ENST00000391701.1 - 3 709 c.540C>T c.(538-540)ctC>ctT p.L180L ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) ATCCTGACCTGAGCAAAAAGT 0.488000 40 96 0 0 0.006999 0 0 FGFBP1 9982 broad.mit.edu 37 4 15937826 15937826 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:15937826G>A ENST00000382333.1 - 3 724 c.430C>T c.(430-432)Cca>Tca p.P144S FGFBP1_ENST00000259988.2_Missense_Mutation_p.P144S NM_005130.4 NP_005121.1 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 144 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 CTGGATTCTGGAAAATCCTTT 0.463000 23 36 0 0 0.003330 0 0 PCDHA8 56140 broad.mit.edu 37 5 140220982 140220982 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140220982G>A ENST00000531613.1 + 1 76 c.76G>A c.(76-78)Gtg>Atg p.V26M PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V26M NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCTGGAAGGTGGGGAGCGG 0.607000 22 43 0 0 0.001882 0 0 CUX2 23316 broad.mit.edu 37 12 111785472 111785472 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:111785472G>A ENST00000261726.6 + 22 3958 c.3804G>A c.(3802-3804)caG>caA p.Q1268Q NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CTGAGGACCAGAAGCCAACCG 0.622000 18 22 0 0 0.004990 0 0 SPANXC 64663 broad.mit.edu 37 X 140335800 140335800 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:140335800C>T ENST00000358993.2 - 2 182 c.144G>A c.(142-144)tcG>tcA p.S48S NM_022661.2 NP_073152.1 Q9NY87 SPNXC_HUMAN SPANX family, member C 48 cytoplasm|nucleus large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) CTAGTATGGTCGAGGACTCAG 0.512000 65 58 0 0 0.003610 0 0 HOXB2 3212 broad.mit.edu 37 17 46620542 46620542 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:46620542C>T ENST00000330070.4 - 2 2126 c.959G>A c.(958-960)gGa>gAa p.G320E NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 320 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 GGAGAGGCCTCCGGATAGCTG 0.597000 42 61 0 0 0.002522 0 0 MUC6 4588 broad.mit.edu 37 11 1016670 1016670 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:1016670C>T ENST00000421673.2 - 31 6181 c.6131G>A c.(6130-6132)gGc>gAc p.G2044D NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2044 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGAACGGTGCCTGTTGGCGT 0.572000 38 583 0 0 0.005524 0 0 OR11L1 391189 broad.mit.edu 37 1 248004713 248004713 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:248004713C>T ENST00000355784.2 - 1 541 c.486G>A c.(484-486)atG>atA p.M162I NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M162I(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACCTGGAAATCATCAGGGAAG 0.557000 26 69 0 0 0.004656 0 0 ACAD11 84129 broad.mit.edu 37 3 132277877 132277877 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:132277877G>A ENST00000264990.6 - 20 3252 c.2281C>T c.(2281-2283)Ctt>Ttt p.L761F ACAD11_ENST00000545291.1_Missense_Mutation_p.L286F|ACAD11_ENST00000355458.3_Missense_Mutation_p.L657F NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 ATTGCTGAAAGATGAACTTCG 0.478000 23 43 0 0 0.006320 0 0 THEMIS 387357 broad.mit.edu 37 6 128134578 128134578 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:128134578C>T ENST00000368250.1 - 5 1469 c.971G>A c.(970-972)gGa>gAa p.G324E THEMIS_ENST00000368248.2_Missense_Mutation_p.G403E|THEMIS_ENST00000537166.1_Missense_Mutation_p.G368E|THEMIS_ENST00000543064.1_Missense_Mutation_p.G403E Q8N1K5 THMS1_HUMAN thymocyte selection associated 403 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TTTTTTTATTCCCTCACAGAG 0.468000 35 57 0 0 0.002445 0 0 PDE4A 5141 broad.mit.edu 37 19 10578097 10578097 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:10578097C>T ENST00000380702.2 + 16 2395 c.2395C>T c.(2395-2397)Ctc>Ttc p.L799F PDE4A_ENST00000293683.5_Missense_Mutation_p.L795F|PDE4A_ENST00000352831.6_Missense_Mutation_p.L821F|PDE4A_ENST00000592685.1_Missense_Mutation_p.L799F|PDE4A_ENST00000440014.2_Missense_Mutation_p.L760F|PDE4A_ENST00000344979.3_Missense_Mutation_p.L582F P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 821 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) AAGCCCCCTTCTCCCTGCTTG 0.662000 37 96 0 0 0.006230 0 0 ACVR2B 93 broad.mit.edu 37 3 38519999 38519999 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38519999T>A ENST00000352511.3 + 5 1128 c.656T>A c.(655-657)tTc>tAc p.F219Y NM_001106.3 NP_001097.2 Q13705 AVR2B_HUMAN activin A receptor, type IIB 219 Protein kinase. activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) GTCAAGATCTTCCCACTCCAG 0.577000 28 58 0 0 0.002096 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368957 86368957 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:86368957C>T ENST00000400286.2 - 2 2285 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 563 LRRCT 2. integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CAGAGAATTTCACTATTTAGG 0.433000 30 40 0 0 0.009535 0 0 PNP 4860 broad.mit.edu 37 14 20943275 20943275 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:20943275G>A ENST00000361505.5 + 5 662 c.516G>A c.(514-516)caG>caA p.Q172Q RP11-203M5.8_ENST00000554678.1_lincRNA NM_000270.3 NP_000261.2 P00491 PNPH_HUMAN purine nucleoside phosphorylase 172 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) CTATGAGGCAGAGGGCTCTCA 0.493000 23 61 0 0 0.003954 0 0 SRSF11 9295 broad.mit.edu 37 1 70715710 70715710 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:70715710C>T ENST00000370950.3 + 11 1180 c.1098C>T c.(1096-1098)tcC>tcT p.S366S SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Silent_p.S366S|SRSF11_ENST00000370951.1_Silent_p.S366S|SRSF11_ENST00000370949.1_Silent_p.S306S Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 366 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 GAAAATTGTCCCGCTCACCAT 0.373000 16 57 0 0 0.004007 0 0 OR4D9 390199 broad.mit.edu 37 11 59282987 59282987 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:59282987C>T ENST00000329328.3 + 1 602 c.602C>T c.(601-603)tCa>tTa p.S201L NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CTGATGATTTCAAATAATGGG 0.473000 18 83 0 0 0.004990 0 0 C8B 732 broad.mit.edu 37 1 57406640 57406640 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:57406640A>C ENST00000543257.1 - 10 1690 c.1124T>G c.(1123-1125)gTa>gGa p.V375G C8B_ENST00000371237.4_Missense_Mutation_p.V427G|C8B_ENST00000535057.1_Missense_Mutation_p.V365G NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 427 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 CCCTCCTCGTACCAGGACCAC 0.577000 14 27 0 0 0.004007 0 0 MYH1 4619 broad.mit.edu 37 17 10401102 10401102 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10401102C>T ENST00000226207.5 - 31 4408 c.4314G>A c.(4312-4314)agG>agA p.R1438R CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1438 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CAGCATTTGTCCTCTCAACAT 0.433000 22 42 0 0 0.001882 0 0 ITGA7 3679 broad.mit.edu 37 12 56096685 56096685 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:56096685G>A ENST00000257880.7 - 3 604 c.385C>T c.(385-387)Cgg>Tgg p.R129W ITGA7_ENST00000553804.1_Missense_Mutation_p.R129W|ITGA7_ENST00000347027.6_Missense_Mutation_p.R129W|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Missense_Mutation_p.R129W|ITGA7_ENST00000394230.2_Missense_Mutation_p.R129W|ITGA7_ENST00000257879.6_Missense_Mutation_p.R129W|ITGA7_ENST00000555728.1_Missense_Mutation_p.R129W Q13683 ITA7_HUMAN integrin, alpha 7 129 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity p.R129W(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CCCTGGCTCCGAACACTGACT 0.522000 18 58 0 0 0.007413 0 0 ZNF812 729648 broad.mit.edu 37 19 9801391 9801391 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9801391G>A ENST00000457674.2 - 5 1306 c.788C>T c.(787-789)tCc>tTc p.S263F ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AACATTAAAGGATGAGGAATT 0.348000 14 33 0 0 0.001855 0 0 CACNB1 782 broad.mit.edu 37 17 37331907 37331907 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:37331907G>A ENST00000394303.3 - 14 1543 c.1336C>T c.(1336-1338)Ccc>Tcc p.P446S RP5-906A24.2_ENST00000579256.1_RNA NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 446 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) GCAAGGTAGGGTCCCTGGTTA 0.602000 11 49 0 0 0.000978 0 0 HAUS1 115106 broad.mit.edu 37 18 43705713 43705713 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:43705713C>T ENST00000282058.6 + 8 822 c.742C>T c.(742-744)Ccg>Tcg p.P248S HAUS1_ENST00000585518.1_Missense_Mutation_p.S116F|HAUS1_ENST00000588704.1_3'UTR NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 248 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 TTTAAAGAATCCGTCTCTTGC 0.294000 8 10 0 0 0.004482 0 0 UNC13A 23025 broad.mit.edu 37 19 17735681 17735681 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:17735681G>A ENST00000428389.2 - 36 4417 c.4418C>T c.(4417-4419)aCc>aTc p.T1473I UNC13A_ENST00000519716.2_Missense_Mutation_p.T1385I|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1383I|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1385I|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1385I|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1385I Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1385 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TTTCTCCATGGTGTTCATAAC 0.602000 26 18 0 0 0.004656 0 0 ZNF513 130557 broad.mit.edu 37 2 27603104 27603104 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:27603104C>T ENST00000323703.6 - 2 265 c.67G>A c.(67-69)Gac>Aac p.D23N ZNF513_ENST00000407879.1_5'UTR NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 23 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCGAGGGAGTCTTCAGTATCC 0.577000 34 82 0 0 0.009718 0 0 XKR5 389610 broad.mit.edu 37 8 6682706 6682706 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:6682706G>A ENST00000518724.1 - 0 558 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TATCTGTGAAGTCTGAGGCTA 0.557000 18 42 0 0 0.003330 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610552 47610552 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:47610552G>A ENST00000371891.3 + 9 1163 c.1132G>A c.(1132-1134)Gag>Aag p.E378K CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.E280K|CYP4A22_ENST00000294337.3_Missense_Mutation_p.E378K|CYP4A22_ENST00000485117.1_3'UTR NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 378 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTGCATTAAGGAGGCACTGAG 0.582000 12 26 0 0 0.001368 0 0 RBBP4 5928 broad.mit.edu 37 1 33138435 33138435 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:33138435G>A ENST00000373493.5 + 11 1304 c.1145G>A c.(1144-1146)tGg>tAg p.W382* RBBP4_ENST00000458695.2_Nonsense_Mutation_p.W347*|RBBP4_ENST00000373485.1_Nonsense_Mutation_p.W382*|RBBP4_ENST00000414241.3_Nonsense_Mutation_p.W381*|RBBP4_ENST00000544435.1_Nonsense_Mutation_p.W130* NM_001135255.1|NM_005610.2 NP_001128727.1|NP_005601.1 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 382 cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) GATTTCTCCTGGAATCCCAAT 0.383000 15 34 0 0 0.008871 0 0 MYO5C 55930 broad.mit.edu 37 15 52517715 52517715 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:52517715G>A ENST00000261839.7 - 26 3383 c.3222C>T c.(3220-3222)ttC>ttT p.F1074F NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1074 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCTCTTTTTCGAACTCAGAGA 0.368000 10 72 0 0 0.006214 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883927 228883927 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:228883927G>A ENST00000392056.3 - 7 1689 c.1643C>T c.(1642-1644)tCc>tTc p.S548F SPHKAP_ENST00000344657.5_Missense_Mutation_p.S548F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 548 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) CTCATTGATGGAAGGTTCCTT 0.532000 27 81 0 0 0.004656 0 0 PARP4 143 broad.mit.edu 37 13 25016098 25016098 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:25016098A>C ENST00000381989.3 - 30 3657 c.3552T>G c.(3550-3552)aaT>aaG p.N1184K NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1184 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AAGGCGACTCATTCTCATCCT 0.403000 9 12 0 0 0.000978 0 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917186 89917186 + Silent SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:89917186G>T ENST00000548729.1 - 3 1434 c.1132C>A c.(1132-1134)Cgg>Agg p.R378R POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000413530.1_Silent_p.R209R|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Silent_p.R381R NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 TCTGCTGCCCGAGCAGTATTC 0.473000 24 31 5.35356e-11 6.18425e-11 0.002780 1 0 MRAP 56246 broad.mit.edu 37 21 33684140 33684140 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:33684140G>A ENST00000399784.2 + 5 539 c.352G>A c.(352-354)Ggc>Agc p.G118S MRAP_ENST00000303645.5_Missense_Mutation_p.G118S|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000399786.3_Intron|MRAP_ENST00000339944.4_Intron|MRAP_ENST00000497833.1_3'UTR NM_178817.3 NP_848932.1 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 118 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding endometrium(1)|large_intestine(2)|lung(3) 6 GAGCAGAACTGGCCCTGACCA 0.647000 10 23 0 0 0.008291 0 0 NWD1 284434 broad.mit.edu 37 19 16918651 16918651 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:16918651G>T ENST00000524140.2 + 18 4409 c.3991G>T c.(3991-3993)Gac>Tac p.D1331Y NWD1_ENST00000523826.1_Missense_Mutation_p.D1125Y|NWD1_ENST00000379808.3_Missense_Mutation_p.D1331Y|NWD1_ENST00000339803.6_Missense_Mutation_p.D1196Y|NWD1_ENST00000552788.1_Missense_Mutation_p.D1331Y|NWD1_ENST00000549814.1_Missense_Mutation_p.D1289Y NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1331 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CACCTCCGGGGACCCCTGCCC 0.607000 26 52 7.26314e-15 8.40267e-15 0.007291 1 0 PRB2 653247 broad.mit.edu 37 12 11546792 11546792 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:11546792G>A ENST00000389362.4 - 3 255 c.220C>T c.(220-222)Cct>Tct p.P74S PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTCCTGGAGGAGGTGGGGGA 0.602000 6 202 0 0 0.003080 0 0 HEATR5B 54497 broad.mit.edu 37 2 37230775 37230775 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:37230775G>A ENST00000233099.5 - 31 5055 c.4960C>T c.(4960-4962)Cca>Tca p.P1654S HEATR5B_ENST00000354531.2_Missense_Mutation_p.P1654S NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1654 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) ACAGATGATGGATTCCAGGTC 0.373000 11 29 0 0 0.008291 0 0 MS4A8 83661 broad.mit.edu 37 11 60468529 60468529 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:60468529C>T ENST00000300226.2 + 2 399 c.196C>T c.(196-198)Ctg>Ttg p.L66L NM_031457.1 NP_113645.1 membrane-spanning 4-domains, subfamily A, member 8 GCAGAAAGCTCTGAAAGAAGG 0.552000 15 26 0 0 0.003163 0 0 OR10A7 121364 broad.mit.edu 37 12 55615199 55615199 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:55615199C>T ENST00000326258.1 + 1 391 c.391C>T c.(391-393)Cat>Tat p.H131Y NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TAACCCTCTCCATTATTCAGT 0.458000 35 68 0 0 0.003755 0 0 MYLK 4638 broad.mit.edu 37 3 123456251 123456251 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:123456251G>A ENST00000360772.3 - 9 1106 c.728C>T c.(727-729)tCg>tTg p.S243L MYLK_ENST00000346322.5_Missense_Mutation_p.S243L|MYLK_ENST00000359169.1_Missense_Mutation_p.S243L|MYLK_ENST00000475616.1_Missense_Mutation_p.S243L|MYLK_ENST00000360304.3_Missense_Mutation_p.S243L Q15746 MYLK_HUMAN myosin light chain kinase 243 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGCTGACATCGAGGCCTTCCC 0.567000 28 71 0 0 0.007291 0 0 SLC35F1 222553 broad.mit.edu 37 6 118588184 118588184 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:118588184C>T ENST00000360388.4 + 4 705 c.504C>T c.(502-504)gtC>gtT p.V168V NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 168 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TGATCCCAGTCGTGATTTTGC 0.493000 93 215 0 0 0.003610 0 0 SPATA16 83893 broad.mit.edu 37 3 172835378 172835378 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:172835378C>T ENST00000351008.3 - 2 327 c.144G>A c.(142-144)aaG>aaA p.K48K NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 48 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CACAGTTTTTCTTAATCTCTT 0.383000 74 150 0 0 0.003610 0 0 RASSF4 83937 broad.mit.edu 37 10 45479559 45479559 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:45479559C>T ENST00000334940.6 + 5 532 c.398C>T c.(397-399)tCg>tTg p.S133L RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.4_Missense_Mutation_p.S124L|RASSF4_ENST00000374417.2_Intron Q9H2L5 RASF4_HUMAN Ras association (RalGDS/AF-6) domain family member 4 124 cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 ACAGACAGCTCGGGTAAGCGG 0.597000 3 5 0 0 0.009096 0 0 SEMA3E 9723 broad.mit.edu 37 7 83047717 83047717 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:83047717G>A ENST00000307792.3 - 5 1006 c.539C>T c.(538-540)tCc>tTc p.S180F SEMA3E_ENST00000427262.1_Missense_Mutation_p.S120F NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 180 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AATTAAAGTGGAGATGAAGGA 0.408000 16 6 0 0 0.004007 0 0 TRIML1 339976 broad.mit.edu 37 4 189063546 189063546 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:189063546G>A ENST00000332517.3 + 3 785 c.645G>A c.(643-645)gaG>gaA p.E215E RP11-366H4.3_ENST00000501322.2_RNA NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 215 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GGAACAATGAGATCAAACTGA 0.448000 22 31 0 0 0.002780 0 0 ZPBP 11055 broad.mit.edu 37 7 49977143 49977143 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:49977143C>T ENST00000046087.2 - 8 1106 c.1037G>A c.(1036-1038)gGa>gAa p.G346E ZPBP_ENST00000419417.1_Missense_Mutation_p.G345E|ZPBP_ENST00000491129.1_Intron NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 346 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) CGTTTTTGCTCCATACACCAG 0.333000 26 92 0 0 0.002445 0 0 LMLN 89782 broad.mit.edu 37 3 197723072 197723072 + Silent SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:197723072T>C ENST00000330198.4 + 10 1096 c.1074T>C c.(1072-1074)tgT>tgC p.C358C LMLN_ENST00000420910.2_Silent_p.C358C|LMLN_ENST00000482695.1_Silent_p.C306C|LMLN_ENST00000332636.5_Silent_p.C306C NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 358 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) ATTTTGATTGTCCAGTTCTAG 0.363000 14 33 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9062673 9062673 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9062673G>A ENST00000397910.4 - 3 24976 c.24773C>T c.(24772-24774)tCc>tTc p.S8258F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8260 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCCACAGAGGATTGACTAGG 0.502000 23 50 0 0 0.002780 0 0 FAM171A1 221061 broad.mit.edu 37 10 15254982 15254982 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:15254982C>T ENST00000378116.4 - 8 2611 c.2605G>A c.(2605-2607)Gga>Aga p.G869R NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 869 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TTGTCTTCTCCTTGGTCATCA 0.557000 53 124 0 0 0.003610 0 0 ERBB4 2066 broad.mit.edu 37 2 212495276 212495276 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:212495276G>A ENST00000342788.4 - 17 2300 c.1990C>T c.(1990-1992)Ctg>Ttg p.L664L ERBB4_ENST00000402597.1_Silent_p.L654L|ERBB4_ENST00000436443.1_Silent_p.L664L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 664 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACAATGACCAGAATGAAGAGC 0.393000 TSP Lung(8;0.080) 41 71 0 0 0.003214 0 0 RFPL3 10738 broad.mit.edu 37 22 32756276 32756276 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:32756276C>T ENST00000249007.4 + 2 616 c.411C>T c.(409-411)ttC>ttT p.F137F RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Silent_p.F108F|RFPL3_ENST00000397468.1_Silent_p.F108F NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 137 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 CCAACAACTTCCTCCTCATTT 0.517000 40 64 0 0 0.007835 0 0 CPN2 1370 broad.mit.edu 37 3 194063251 194063251 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:194063251A>G ENST00000323830.3 - 2 270 c.181T>C c.(181-183)Ttc>Ctc p.F61L CPN2_ENST00000429275.1_Missense_Mutation_p.F61L NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 61 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) AATGTGGTGAACGAGGTCTCC 0.532000 25 74 0 0 0.007291 0 0 TET3 200424 broad.mit.edu 37 2 74328497 74328497 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:74328497C>T ENST00000409262.3 + 9 4177 c.4177C>T c.(4177-4179)Ccc>Tcc p.P1393S NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1393 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTTGGCTGGGCCCAGCCTGAC 0.637000 16 40 0 0 0.004007 0 0 HTR3C 170572 broad.mit.edu 37 3 183773112 183773112 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:183773112C>T ENST00000318351.1 + 3 281 c.247C>T c.(247-249)Cag>Tag p.Q83* NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 83 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TGCACAGCTCCAGCTGCTGAC 0.408000 22 33 0 0 0.004656 0 0 AGBL4 84871 broad.mit.edu 37 1 49128876 49128876 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:49128876G>A ENST00000371839.1 - 7 788 c.672C>T c.(670-672)ttC>ttT p.F224F AGBL4_ENST00000334103.7_5'UTR|AGBL4_ENST00000371838.1_Silent_p.F224F NM_032785.3 NP_116174.3 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 224 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) GTCCTGTGATGAATACCACCT 0.493000 39 85 0 0 0.003214 0 0 HOXD10 3236 broad.mit.edu 37 2 176983951 176983951 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:176983951T>C ENST00000249501.4 + 2 1270 c.1015T>C c.(1015-1017)Ttt>Ctt p.F339L HOXD10_ENST00000490088.2_3'UTR NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 339 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CAACCTCACGTTTTCTTAggt 0.582000 22 23 0 0 0.010504 0 0 CFB 629 broad.mit.edu 37 6 31896606 31896606 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:31896606G>A ENST00000477310.1 + 3 383 c.354G>A c.(352-354)gaG>gaA p.E118E CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Silent_p.E118E|C2_ENST00000299367.5_Silent_p.E118E|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000452323.2_Intron P00751 CFAB_HUMAN complement factor B 132 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TCGAGTGTGAGGATGGCTTCA 0.577000 130 295 0 0 0.003610 0 0 AMPD3 272 broad.mit.edu 37 11 10506366 10506366 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:10506366G>A ENST00000444303.2 + 4 584 c.e4-1 AMPD3_ENST00000396554.3_Splice_Site NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CTGTTTTGCAGACTTCCACCC 0.582000 30 78 0 0 0.009535 0 0 COL4A5 1287 broad.mit.edu 37 X 107829883 107829883 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:107829883A>T ENST00000328300.6 + 19 1315 c.1071A>T c.(1069-1071)gaA>gaT p.E357D COL4A5_ENST00000361603.2_Missense_Mutation_p.E357D NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 357 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 CTATAGGAGAAAAAGGAAACA 0.423000 Alport syndrome with Diffuse Leiomyomatosis 47 33 0 0 0.003610 0 0 DNAH1 25981 broad.mit.edu 37 3 52398929 52398929 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:52398929C>T ENST00000420323.2 + 34 5673 c.5412C>T c.(5410-5412)atC>atT p.I1804I NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1804 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I1804I(2) cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCTCTGGCATCGTGTCCGACC 0.607000 27 65 0 0 0.005443 0 0 COX6C 1345 broad.mit.edu 37 8 100904221 100904221 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:100904221C>T ENST00000520468.2 - 2 483 c.29G>A c.(28-30)cGg>cAg p.R10Q COX6C_ENST00000524245.1_Missense_Mutation_p.R10Q|COX6C_ENST00000517682.2_Missense_Mutation_p.R10Q|COX6C_ENST00000297564.2_Missense_Mutation_p.R10Q|COX6C_ENST00000518171.1_Missense_Mutation_p.R10Q|COX6C_ENST00000522940.1_Missense_Mutation_p.R10Q|COX6C_ENST00000523016.1_Missense_Mutation_p.R10Q|COX6C_ENST00000520271.1_Missense_Mutation_p.R10Q NM_004374.3 NP_004365.1 P09669 COX6C_HUMAN cytochrome c oxidase subunit VIc 10 respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity HMGA2/COX6C(2) liver(1)|lung(2) 3 all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GCCACGCATCCGAGGTTTTGG 0.433000 T HMGA2 uterine leiomyoma 45 102 0 0 0.008740 0 0 NOS1AP 9722 broad.mit.edu 37 1 162336865 162336865 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:162336865G>A ENST00000493151.1 + 2 2611 c.244G>A c.(244-246)Gag>Aag p.E82K NOS1AP_ENST00000361897.5_Missense_Mutation_p.E377K|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E372K|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E63K|NOS1AP_ENST00000454693.1_3'UTR NM_001126060.1 NP_001119532.2 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 377 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) CAGCTTGCTGGAGATCACCTT 0.657000 34 123 0 0 0.006230 0 0 APOB 338 broad.mit.edu 37 2 21234846 21234846 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:21234846C>T ENST00000233242.1 - 26 5021 c.4894G>A c.(4894-4896)Ggc>Agc p.G1632S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1632 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGTCAGTGCCTAAGATGTCA 0.438000 218 394 0 0 0.003610 0 0 PEAK1 79834 broad.mit.edu 37 15 77473384 77473384 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:77473384G>A ENST00000560626.2 - 4 1360 c.885C>T c.(883-885)ccC>ccT p.P295P PEAK1_ENST00000558305.1_Silent_p.P295P|PEAK1_ENST00000312493.4_Silent_p.P295P Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 295 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TGTTTCGCAGGGGGATGGTAT 0.443000 26 123 0 0 0.006320 0 0 PDX1 3651 broad.mit.edu 37 13 28498687 28498687 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:28498687A>C ENST00000381033.4 + 2 820 c.701A>C c.(700-702)gAg>gCg p.E234A NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 234 detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) TCCGGCGAGGAGCTTCTGGCG 0.761000 17 58 0 0 0.006122 0 0 GPR18 2841 broad.mit.edu 37 13 99907871 99907871 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:99907871C>T ENST00000340807.3 - 3 812 c.256G>A c.(256-258)Gaa>Aaa p.E86K GPR18_ENST00000397473.2_Missense_Mutation_p.E86K|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.E86K|UBAC2_ENST00000403766.3_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 86 E -> A (in Ref. 1; AAB65819). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) AATGGCCATTCATCTTTTGCA 0.388000 14 39 0 0 0.004007 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725259 140725259 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140725259G>A ENST00000253812.6 + 1 1659 c.1659G>A c.(1657-1659)ctG>ctA p.L553L PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTCGTGCTGGACCAGAACG 0.622000 59 104 0 0 0.003610 0 0 PAAF1 80227 broad.mit.edu 37 11 73620606 73620606 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:73620606C>T ENST00000544909.1 + 5 955 c.698C>T c.(697-699)tCc>tTc p.S233F PAAF1_ENST00000536003.1_Missense_Mutation_p.S215F|PAAF1_ENST00000544552.1_Missense_Mutation_p.S215F|PAAF1_ENST00000541951.1_Missense_Mutation_p.S117F|PAAF1_ENST00000535604.1_Missense_Mutation_p.S117F|PAAF1_ENST00000376384.5_Missense_Mutation_p.S215F|PAAF1_ENST00000310571.3_Missense_Mutation_p.S232F Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 232 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) GCTGACAACTCCATAAACCTT 0.488000 38 46 0 0 0.009718 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570341 61570341 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:61570341T>A ENST00000457692.1 + 9 1383 c.1050T>A c.(1048-1050)ttT>ttA p.F350L SERPINB2_ENST00000299502.4_Missense_Mutation_p.F350L NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 350 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) ATGACCTGTTTCTTTCTGAAG 0.517000 14 54 0 0 0.002450 0 0 PPP3CB 5532 broad.mit.edu 37 10 75238270 75238270 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:75238270T>A ENST00000360663.5 - 3 509 c.398A>T c.(397-399)tAt>tTt p.Y133F PPP3CB_ENST00000545874.1_Missense_Mutation_p.Y47F|PPP3CB_ENST00000394822.2_Missense_Mutation_p.Y133F|PPP3CB_ENST00000394828.2_Missense_Mutation_p.Y133F|PPP3CB_ENST00000394829.2_Missense_Mutation_p.Y133F|PPP3CB_ENST00000342558.3_Missense_Mutation_p.Y133F P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta isozyme 133 Catalytic. breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) TATACTAAAATAACCTCTGTC 0.348000 22 43 0 0 0.002299 0 0 GPC5 2262 broad.mit.edu 37 13 92345554 92345554 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:92345554G>A ENST00000377067.3 + 3 811 c.439G>A c.(439-441)Gat>Aat p.D147N NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 147 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GTTCTTCACTGATGTGGGGCT 0.408000 20 74 0 0 0.010504 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687360 27687360 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:27687360G>A ENST00000438700.3 - 4 2284 c.2167C>T c.(2167-2169)Cct>Tct p.P723S NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 723 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 AAAAAATCAGGAATATTGTTC 0.299000 19 30 0 0 0.007413 0 0 RTN2 6253 broad.mit.edu 37 19 45997524 45997524 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:45997524C>T ENST00000245923.4 - 4 949 c.714G>A c.(712-714)gaG>gaA p.E238E PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Silent_p.E238E|RTN2_ENST00000590526.1_5'UTR NM_005619.4 NP_005610.1 O75298 RTN2_HUMAN reticulon 2 238 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) GCTTTTCTTCCTCTTCCAGCA 0.612000 26 53 0 0 0.006320 0 0 DNASE2 1777 broad.mit.edu 37 19 12991617 12991617 + Splice_Site SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:12991617C>A ENST00000222219.3 - 3 437 c.346_splice c.e3+1 p.K115_splice DNASE2_ENST00000538460.1_Splice_Site_p.K115_splice NM_001375.2 NP_001366.1 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal 115 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 AGGCCTCACCCTTCGTGTGCC 0.607000 48 114 1.10885e-35 1.28956e-35 0.003610 1 0 STK31 56164 broad.mit.edu 37 7 23854809 23854809 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:23854809C>T ENST00000354639.3 + 23 3202 c.2738C>T c.(2737-2739)cCc>cTc p.P913L STK31_ENST00000428484.1_Missense_Mutation_p.P913L|STK31_ENST00000355870.3_Missense_Mutation_p.P936L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Intron NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 936 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GATGGAATCCCCAAAGTGGAT 0.333000 14 37 0 0 0.004990 0 0 TM2D3 80213 broad.mit.edu 37 15 102185351 102185351 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:102185351G>A ENST00000561373.1 - 3 878 c.322C>T c.(322-324)Ccc>Tcc p.P108S TM2D3_ENST00000428002.2_Missense_Mutation_p.P147S|TM2D3_ENST00000333202.3_Missense_Mutation_p.P173S|TM2D3_ENST00000347970.3_Missense_Mutation_p.P147S|TM2D3_ENST00000559107.1_Missense_Mutation_p.P173S Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 173 integral to membrane central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGCATTTTGGGAAAAGTACGG 0.353000 25 11 0 0 0.004656 0 0 ABCC3 8714 broad.mit.edu 37 17 48765080 48765080 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:48765080G>A ENST00000285238.8 + 30 4544 c.4464G>A c.(4462-4464)atG>atA p.M1488I NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1488 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) ACACTATCATGGACTACACCA 0.562000 15 34 0 0 0.004007 0 0 WDR33 55339 broad.mit.edu 37 2 128476849 128476849 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:128476849G>A ENST00000322313.4 - 16 2908 c.2750C>T c.(2749-2751)cCc>cTc p.P917L NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 917 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CTGGTTGAAGGGGGCCCGGGG 0.512000 57 119 0 0 0.003610 0 0 OR6K6 128371 broad.mit.edu 37 1 158725526 158725526 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:158725526C>T ENST00000368144.2 + 1 1017 c.921C>T c.(919-921)atC>atT p.I307I NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CTTTTGTTATCCTTGCTCCCT 0.438000 17 59 0 0 0.004990 0 0 NLRP9 338321 broad.mit.edu 37 19 56244087 56244087 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:56244087G>A ENST00000332836.2 - 2 1137 c.1110C>T c.(1108-1110)tcC>tcT p.S370S NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 370 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TTGTTAAAAAGGATGCATATA 0.438000 28 77 0 0 0.005443 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146077636 146077636 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:146077636G>A ENST00000394413.3 - 3 810 c.240C>T c.(238-240)ttC>ttT p.F80F PPP2R2B_ENST00000504198.1_Silent_p.F86F|PPP2R2B_ENST00000394409.3_Silent_p.F138F|PPP2R2B_ENST00000394411.4_Silent_p.F80F|PPP2R2B_ENST00000394410.2_Silent_p.F69F|PPP2R2B_ENST00000336640.6_Silent_p.F83F|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Silent_p.F80F|PPP2R2B_ENST00000356826.3_Silent_p.F80F|PPP2R2B_ENST00000508545.2_Silent_p.F69F|PPP2R2B_ENST00000394414.1_Silent_p.F146F Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 80 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.F69F(1)|p.F80F(1)|p.F83F(1)|p.F138F(1) endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCAGGTAATCGAACTCGGGTT 0.383000 55 107 0 0 0.003610 0 0 LRRC37B 114659 broad.mit.edu 37 17 30358412 30358412 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:30358412T>A ENST00000327564.7 + 5 2053 c.1992T>A c.(1990-1992)aaT>aaA p.N664K LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000543378.2_Missense_Mutation_p.N555K|LRRC37B_ENST00000341671.7_Missense_Mutation_p.N637K|LRRC37B_ENST00000584368.1_Intron Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 637 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TGGGCTGCAATTTAATTACAA 0.343000 8 54 0 0 0.004482 0 0 UGT2B11 10720 broad.mit.edu 37 4 70080284 70080284 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:70080284C>T ENST00000446444.1 - 1 165 c.157G>A c.(157-159)Gtg>Atg p.V53M RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 53 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 AGTACAGTCACCTCATGACCT 0.413000 47 80 0 0 0.003610 0 0 TAF1L 138474 broad.mit.edu 37 9 32630810 32630810 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:32630810C>T ENST00000242310.4 - 1 4857 c.4768G>A c.(4768-4770)Gat>Aat p.D1590N NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1590 Bromo 2. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGGTTTACATCATCTAGAAAA 0.388000 17 35 0 0 0.006122 0 0 REEP1 65055 broad.mit.edu 37 2 86481850 86481850 + Silent SNP C C T rs141929755 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:86481850C>T ENST00000165698.5 - 4 413 c.270G>A c.(268-270)aaG>aaA p.K90K REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Intron|REEP1_ENST00000540790.1_Silent_p.K69K|REEP1_ENST00000538924.1_Silent_p.K97K|REEP1_ENST00000535845.1_Silent_p.K63K NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 90 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 GATGTACAAACTTCCTGTACA 0.388000 28 38 0 0 0.009535 0 0 LYPD4 147719 broad.mit.edu 37 19 42341250 42341250 + Silent SNP G G A rs148256898 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:42341250G>A ENST00000330743.3 - 5 1919 c.708C>T c.(706-708)gtC>gtT p.V236V LYPD4_ENST00000601246.1_Silent_p.V201V|LYPD4_ENST00000343055.4_Silent_p.V201V NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 236 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 GGCCTAAGACGACACCCCAAG 0.483000 24 51 0 0 0.002299 0 0 PLXND1 23129 broad.mit.edu 37 3 129281741 129281741 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:129281741C>G ENST00000393239.1 - 27 4892 c.4714G>C c.(4714-4716)Gtg>Ctg p.V1572L PLXND1_ENST00000324093.4_Missense_Mutation_p.V1572L Q9Y4D7 PLXD1_HUMAN plexin D1 1572 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 ATGGCCCGCACGCTCAGCGAG 0.592000 8 25 0 0 0.004482 0 0 TRIOBP 11078 broad.mit.edu 37 22 38130441 38130441 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:38130441C>T ENST00000406386.3 + 9 4353 c.4098C>T c.(4096-4098)acC>acT p.T1366T RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1366 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CAGAACTGACCCGGCGGAGCC 0.647000 16 37 0 0 0.010504 0 0 LAMA1 284217 broad.mit.edu 37 18 7036045 7036045 + Missense_Mutation SNP C C T rs143022454 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:7036045C>T ENST00000389658.3 - 13 1873 c.1780G>A c.(1780-1782)Gat>Aat p.D594N NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 594 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCGGAATATCGTAGGACACC 0.443000 5 34 0 0 0.000602 0 0 AKAP3 10566 broad.mit.edu 37 12 4736646 4736646 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:4736646G>A ENST00000545990.2 - 5 1946 c.1422C>T c.(1420-1422)ttC>ttT p.F474F AKAP3_ENST00000228850.1_Silent_p.F474F NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 474 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 CTGCATGCTGGAAACCTAGAG 0.463000 6 34 0 0 0.004482 0 0 KIAA1841 84542 broad.mit.edu 37 2 61304125 61304125 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:61304125C>T ENST00000402291.1 + 6 743 c.502C>T c.(502-504)Ctt>Ttt p.L168F KIAA1841_ENST00000356719.2_Missense_Mutation_p.L168F|KIAA1841_ENST00000295031.5_Missense_Mutation_p.L168F|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.L168F NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 168 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) CCCGCGAGATCTTTTGATATC 0.373000 28 69 0 0 0.006320 0 0 ASL 435 broad.mit.edu 37 7 65556996 65556996 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:65556996C>T ENST00000304874.9 + 15 1168 c.1066C>T c.(1066-1068)Cac>Tac p.H356Y ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.H356Y|ASL_ENST00000395331.3_Missense_Mutation_p.H336Y|ASL_ENST00000380839.4_Missense_Mutation_p.H330Y|AC068533.7_ENST00000450043.1_Missense_Mutation_p.S124L NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 356 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) CCCCCAGATTCACCAAGAGAA 0.632000 57 115 0 0 0.003610 0 0 OR52M1 119772 broad.mit.edu 37 11 4566547 4566547 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:4566547G>C ENST00000360213.1 + 1 127 c.127G>C c.(127-129)Ggg>Cgg p.G43R NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCTGTGGTGGGGAATGTGAC 0.562000 21 45 0 0 0.001882 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24466191 24466191 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:24466191C>T ENST00000382137.3 - 3 307 c.239G>A c.(238-240)gGa>gAa p.G80E C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.G80E|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.G80E|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G80E NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 80 Collagen-like 1. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 TTCAACTTTTCCATCTGCTCC 0.433000 26 60 0 0 0.004289 0 0 LAMA3 3909 broad.mit.edu 37 18 21479405 21479405 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:21479405G>A ENST00000313654.9 + 47 6231 c.5990G>A c.(5989-5991)aGg>aAg p.R1997K LAMA3_ENST00000269217.6_Missense_Mutation_p.R388K|LAMA3_ENST00000587184.1_Intron|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Intron NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1997 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTGATAAAAGGGAGTCGCAG 0.483000 11 18 0 0 0.001368 0 0 FIP1L1 81608 broad.mit.edu 37 4 54310258 54310258 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:54310258C>T ENST00000337488.6 + 15 1467 c.1273C>T c.(1273-1275)Cca>Tca p.P425S FIP1L1_ENST00000306932.6_Missense_Mutation_p.P351S|FIP1L1_ENST00000358575.5_Missense_Mutation_p.P419S|FIP1L1_ENST00000507166.1_Intron NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 425 mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) ACGTGCATTTCCATATGGCAA 0.308000 T PDGFRA idiopathic hypereosinophilic syndrome 15 30 0 0 0.004990 0 0 TECRL 253017 broad.mit.edu 37 4 65194272 65194272 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:65194272G>A ENST00000381210.3 - 3 399 c.289C>T c.(289-291)Cca>Tca p.P97S TECRL_ENST00000507440.1_Missense_Mutation_p.P97S NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 97 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TACCACTTTGGACCTATTCAA 0.323000 25 31 0 0 0.008361 0 0 NOX4 50507 broad.mit.edu 37 11 89088167 89088167 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:89088167C>T ENST00000535633.1 - 13 1418 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K NOX4_ENST00000534731.1_Missense_Mutation_p.E394K|NOX4_ENST00000528341.1_Missense_Mutation_p.E369K|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Missense_Mutation_p.E87K|NOX4_ENST00000542487.1_Missense_Mutation_p.E370K|NOX4_ENST00000532825.1_Missense_Mutation_p.E370K|NOX4_ENST00000424319.1_Missense_Mutation_p.E370K|NOX4_ENST00000263317.4_Missense_Mutation_p.E394K|NOX4_ENST00000531342.1_Missense_Mutation_p.E87K|NOX4_ENST00000527626.1_Missense_Mutation_p.E228K|NOX4_ENST00000343727.5_Missense_Mutation_p.E370K|NOX4_ENST00000413594.2_Missense_Mutation_p.E415K|NOX4_ENST00000527956.1_Missense_Mutation_p.E370K NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 394 FAD-binding FR-type.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) GGCAGAATTTCGGAGTCTTGA 0.378000 5 21 0 0 0.001168 0 0 NOP14 8602 broad.mit.edu 37 4 2955286 2955286 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:2955286G>A ENST00000416614.2 - 5 764 c.699C>T c.(697-699)tcC>tcT p.S233S NOP14_ENST00000398071.4_Silent_p.S233S|NOP14_ENST00000314262.6_Silent_p.S233S|NOP14_ENST00000502735.1_Silent_p.S233S|NOP14-AS1_ENST00000503709.1_RNA P78316 NOP14_HUMAN NOP14 nucleolar protein 233 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 GAGTTTTGTGGGACAGGAGAG 0.483000 75 117 0 0 0.003610 0 0 COL3A1 1281 broad.mit.edu 37 2 189867065 189867065 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:189867065C>T ENST00000304636.3 + 35 2603 c.2433C>T c.(2431-2433)ttC>ttT p.F811F COL3A1_ENST00000317840.5_Silent_p.F811F NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 811 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) CTGCTGGTTTCCCTGGTGCTC 0.438000 18 40 0 0 0.010504 0 0 ATP9A 10079 broad.mit.edu 37 20 50286538 50286538 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:50286538G>A ENST00000338821.5 - 13 1555 c.1291C>T c.(1291-1293)Cag>Tag p.Q431* ATP9A_ENST00000402822.1_Nonsense_Mutation_p.Q310*|ATP9A_ENST00000311637.5_Nonsense_Mutation_p.Q295* NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 431 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GGCTTTACCTGGGTGTAAATG 0.403000 43 78 0 0 0.003610 0 0 SLC4A5 57835 broad.mit.edu 37 2 74475491 74475491 + Silent SNP G G A rs148607545 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:74475491G>A ENST00000394019.2 - 18 2173 c.1776C>T c.(1774-1776)ttC>ttT p.F592F RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Silent_p.F592F|SLC4A5_ENST00000423644.1_Silent_p.F592F|SLC4A5_ENST00000377634.4_Silent_p.F592F|SLC4A5_ENST00000359484.4_Silent_p.F528F|SLC4A5_ENST00000358683.4_Silent_p.F528F|SLC4A5_ENST00000357822.5_Silent_p.F592F|SLC4A5_ENST00000346834.4_Silent_p.F592F NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 592 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity p.F592F(2) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGCTGAAGTCGAAGAGGAGCT 0.592000 36 61 0 0 0.004878 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837224 12837224 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:12837224C>T ENST00000357726.4 + 3 961 c.934C>T c.(934-936)Ctc>Ttc p.L312F NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 312 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTGAAGCATCTCTCTTGGTG 0.557000 51 105 0 0 0.003610 0 0 FAM83B 222584 broad.mit.edu 37 6 54805149 54805149 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:54805149T>A ENST00000306858.7 + 5 1496 c.1380T>A c.(1378-1380)aaT>aaA p.N460K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 460 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CAGACAGGAATTCAAATGTTC 0.453000 22 36 0 0 0.010504 0 0 GANC 2595 broad.mit.edu 37 15 42643552 42643552 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:42643552C>T ENST00000318010.8 + 23 2797 c.2557C>T c.(2557-2559)Ccc>Tcc p.P853S RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_5'UTR NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 853 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GGGTCATTATCCCAGCAAGTG 0.483000 16 32 0 0 0.006122 0 0 TPMT 7172 broad.mit.edu 37 6 18132364 18132364 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:18132364C>T ENST00000309983.4 - 8 710 c.625_splice c.e8+1 p.G209_splice NM_000367.2 NP_000358.1 P51580 TPMT_HUMAN thiopurine S-methyltransferase 209 xenobiotic metabolic process cytosol thiopurine S-methyltransferase activity large_intestine(2)|lung(1) 3 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.146) all cancers(50;0.06)|Epithelial(50;0.0654) Mercaptopurine(DB01033) ACAAACTTACCAAACAACCTT 0.388000 11 36 0 0 0.001368 0 0 RAG1 5896 broad.mit.edu 37 11 36595229 36595229 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:36595229G>A ENST00000299440.5 + 2 487 c.375G>A c.(373-375)agG>agA p.R125R NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 125 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) AGCACAACAGGAGATATCCAG 0.488000 Familial Hemophagocytic Lymphohistiocytosis 49 86 0 0 0.003610 0 0 HSPA8 3312 broad.mit.edu 37 11 122930831 122930831 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:122930831T>G ENST00000534624.1 - 4 833 c.557A>C c.(556-558)gAc>gCc p.D186A HSPA8_ENST00000526110.1_Missense_Mutation_p.D167A|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.D186A|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.D186A|HSPA8_ENST00000532636.1_Missense_Mutation_p.D186A NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 186 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TACCTTTTTGTCTAAGCCGTA 0.373000 23 36 0 0 0.002780 0 0 FLI1 2313 broad.mit.edu 37 11 128677124 128677124 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:128677124G>A ENST00000344954.6 + 7 1060 c.672G>A c.(670-672)cgG>cgA p.R224R FLI1_ENST00000534087.1_Silent_p.R224R|FLI1_ENST00000281428.8_Silent_p.R191R|FLI1_ENST00000525560.1_Silent_p.R64R|FLI1_ENST00000429175.2_Silent_p.R257R Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 257 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CAGAGCAACGGCCCCAGCCAG 0.512000 T EWSR1 Ewing sarcoma 5 12 0 0 0.001984 0 0 PGBD2 267002 broad.mit.edu 37 1 249211020 249211020 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:249211020C>T ENST00000539153.1 + 4 483 c.228C>T c.(226-228)gtC>gtT p.V76V PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Silent_p.V79V|PGBD2_ENST00000462488.1_Intron Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 79 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ATGCTTCAGTCCTGTGTGAGG 0.572000 22 25 0 0 0.001882 0 0 ZNF341 84905 broad.mit.edu 37 20 32349678 32349678 + Nonsense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:32349678G>T ENST00000375200.1 + 8 1404 c.1039G>T c.(1039-1041)Gag>Tag p.E347* ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E340* Q9BYN7 ZN341_HUMAN zinc finger protein 341 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CCACACCGGTGAGAAGCCCTT 0.577000 34 79 2.19358e-23 2.5463e-23 0.005524 1 0 NUP205 23165 broad.mit.edu 37 7 135286117 135286117 + Splice_Site SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:135286117G>T ENST00000285968.6 + 17 2400 c.e17-1 NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GTTCTATTTAGGAGAAGAAAT 0.363000 6 156 0.00198382 0.00227551 0.001984 1 0 DSCAM 1826 broad.mit.edu 37 21 41414561 41414561 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:41414561G>A ENST00000400454.1 - 32 5900 c.5423C>T c.(5422-5424)tCc>tTc p.S1808F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1808 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTAAGTGGAGGAGGCACTTTC 0.522000 19 37 0 0 0.008871 0 0 CLCN6 1185 broad.mit.edu 37 1 11897408 11897408 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:11897408C>T ENST00000346436.6 + 20 2199 c.2147C>T c.(2146-2148)cCc>cTc p.P716L CLCN6_ENST00000376496.3_Missense_Mutation_p.P716L|CLCN6_ENST00000376487.3_Missense_Mutation_p.P694L|CLCN6_ENST00000312413.6_3'UTR NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 716 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) AGATACACTCCCTACCCCAAC 0.582000 36 78 0 0 0.009718 0 0 NLRP8 126205 broad.mit.edu 37 19 56466711 56466711 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:56466711G>A ENST00000291971.3 + 3 1358 c.1287G>A c.(1285-1287)cgG>cgA p.R429R NLRP8_ENST00000590542.1_Silent_p.R429R NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 429 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGTTCGTCCGGTATATTTCTA 0.488000 31 67 0 0 0.003271 0 0 ZNF225 7768 broad.mit.edu 37 19 44622362 44622362 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:44622362G>A ENST00000592780.1 + 3 258 c.37G>A c.(37-39)Gtg>Atg p.V13M ZNF225_ENST00000262894.6_Missense_Mutation_p.V13M|ZNF225_ENST00000590612.1_Missense_Mutation_p.V13M Q9UK10 ZN225_HUMAN zinc finger protein 225 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) CTTCAAGGACGTGGCTGTGGT 0.542000 30 79 0 0 0.002096 0 0 PCNT 5116 broad.mit.edu 37 21 47819663 47819663 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:47819663C>T ENST00000359568.5 + 25 4851 c.4744C>T c.(4744-4746)Cag>Tag p.Q1582* PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1582 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GGCCCAGCTCCAGGAAGAAGT 0.473000 30 59 0 0 0.008361 0 0 AGTR1 185 broad.mit.edu 37 3 148459810 148459810 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:148459810C>T ENST00000542281.1 + 4 1434 c.988C>T c.(988-990)Ctt>Ttt p.L330F AGTR1_ENST00000402260.1_Missense_Mutation_p.L330F|AGTR1_ENST00000461609.1_Missense_Mutation_p.L330F|AGTR1_ENST00000349243.3_Missense_Mutation_p.L330F|AGTR1_ENST00000474935.1_Missense_Mutation_p.L330F|AGTR1_ENST00000475347.1_Missense_Mutation_p.L330F|AGTR1_ENST00000404754.2_Missense_Mutation_p.L330F|AGTR1_ENST00000497524.1_Missense_Mutation_p.L330F|AGTR1_ENST00000418473.2_Missense_Mutation_p.L330F NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 330 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CCACTCAAACCTTTCAACAAA 0.408000 15 24 0 0 0.003163 0 0 TXNDC2 84203 broad.mit.edu 37 18 9886722 9886722 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:9886722C>T ENST00000306084.6 + 2 445 c.246C>T c.(244-246)gcC>gcT p.A82A TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Silent_p.A15A|TXNDC2_ENST00000357775.4_Silent_p.A15A NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 82 cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AGTCTGATGCCTCACAGGAGG 0.567000 17 31 0 0 0.004007 0 0 APPL1 26060 broad.mit.edu 37 3 57291392 57291392 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:57291392G>C ENST00000288266.3 + 15 1513 c.1366G>C c.(1366-1368)Gac>Cac p.D456H NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 456 apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) AATACAGTTTGACATAATTTC 0.502000 25 69 0 0 0.003330 0 0 C6 729 broad.mit.edu 37 5 41143058 41143058 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:41143058C>T ENST00000263413.3 - 18 2938 c.2674G>A c.(2674-2676)Gga>Aga p.G892R C6_ENST00000337836.5_Missense_Mutation_p.G892R NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 892 C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGTTGGTTTCCACCCTTGAAG 0.443000 25 44 0 0 0.004656 0 0 OR2C1 4993 broad.mit.edu 37 16 3406744 3406744 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:3406744G>A ENST00000304936.2 + 1 856 c.804G>A c.(802-804)caG>caA p.Q268Q NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ACAGCAAACAGGACCAGGGCA 0.537000 27 29 0 0 0.009535 0 0 ZHX1 11244 broad.mit.edu 37 8 124267897 124267897 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:124267897A>C ENST00000395571.3 - 3 907 c.290T>G c.(289-291)gTg>gGg p.V97G ZHX1_ENST00000522655.1_Missense_Mutation_p.V97G|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_Missense_Mutation_p.V97G NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 97 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TGAATTTAGCACTACATTGGG 0.333000 22 65 0 0 0.001882 0 0 RFT1 91869 broad.mit.edu 37 3 53138009 53138009 + Silent SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:53138009A>C ENST00000296292.3 - 10 1123 c.1062T>G c.(1060-1062)gcT>gcG p.A354A RFT1_ENST00000394738.3_Silent_p.A315A NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 354 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) AGATATCCAGAGCCAGCTGAG 0.512000 17 46 0 0 0.007413 0 0 FGF16 8823 broad.mit.edu 37 X 76711794 76711794 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:76711794C>T ENST00000439435.1 + 2 131 c.131C>T c.(130-132)tCc>tTc p.S44F O43320 FGF16_HUMAN fibroblast growth factor 16 0 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity NS(1)|breast(1)|lung(2) 4 AATGTGTTTTCCGGGAACAGT 0.423000 36 37 0 0 0.007835 0 0 NYAP2 57624 broad.mit.edu 37 2 226446871 226446871 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:226446871C>T ENST00000272907.6 + 4 1151 c.738C>T c.(736-738)atC>atT p.I246I NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 246 CCGTGTACATCGAGATGGTGG 0.602000 34 126 0 0 0.002445 0 0 KANK4 163782 broad.mit.edu 37 1 62740257 62740257 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:62740257C>T ENST00000371153.4 - 3 897 c.519G>A c.(517-519)agG>agA p.R173R KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 173 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CCTCAGAAGCCCTGCTGTGCA 0.642000 12 27 0 0 0.001368 0 0 PSG6 5675 broad.mit.edu 37 19 43406599 43406599 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:43406599C>T ENST00000187910.2 - 6 1306 c.e6-1 PSG6_ENST00000402603.4_Splice_Site NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) tggcagggacctgattgacag 0.458000 35 180 0 0 0.006230 0 0 SCN5A 6331 broad.mit.edu 37 3 38648291 38648291 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38648291C>T ENST00000413689.1 - 9 1202 c.1009G>A c.(1009-1011)Gag>Aag p.E337K SCN5A_ENST00000333535.4_Missense_Mutation_p.E337K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E337K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E337K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E337K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E337K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E337K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E337K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E337K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E337K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 337 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.E337K(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGGTAGCCCTCCGGACATGTC 0.602000 21 62 0 0 0.003954 0 0 GDPD5 81544 broad.mit.edu 37 11 75160033 75160033 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:75160033C>T ENST00000526177.1 - 5 2167 c.289G>A c.(289-291)Ggg>Agg p.G97R GDPD5_ENST00000533784.1_Missense_Mutation_p.G116R|GDPD5_ENST00000529721.1_Missense_Mutation_p.G235R|GDPD5_ENST00000336898.3_Missense_Mutation_p.G235R|GDPD5_ENST00000376282.3_Missense_Mutation_p.G116R|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000443276.2_3'UTR Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 235 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 ATGGGGGCCCCGCGGTGGCCA 0.607000 17 16 0 0 0.006122 0 0 ELTD1 64123 broad.mit.edu 37 1 79403957 79403957 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:79403957G>A ENST00000370742.3 - 5 467 c.404C>T c.(403-405)tCc>tTc p.S135F NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 135 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTCTTTTATGGATCTGATCTG 0.308000 7 26 0 0 0.003080 0 0 CSF3R 1441 broad.mit.edu 37 1 36932440 36932440 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:36932440G>A ENST00000373103.1 - 17 2657 c.2110C>T c.(2110-2112)Cct>Tct p.P704S CSF3R_ENST00000418048.2_Intron|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000361632.4_Intron|CSF3R_ENST00000487540.2_Intron|CSF3R_ENST00000373106.1_Intron|CSF3R_ENST00000338937.5_Intron|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000440588.2_Missense_Mutation_p.P704S NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 680 cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TGCACACAAGGATGTGGGGTG 0.602000 35 43 0 0 0.004878 0 0 ITGB3 3690 broad.mit.edu 37 17 45364510 45364510 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:45364510G>A ENST00000560629.1 + 6 817 c.817G>A c.(817-819)Gga>Aga p.G273R ITGB3_ENST00000435993.2_Silent_p.L237L|ITGB3_ENST00000571680.1_Silent_p.L284L|ITGB3_ENST00000559488.1_Silent_p.L284L P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 VWFA. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) ATATAGCATTGGACGGAAGGC 0.463000 18 60 0 0 0.007413 0 0 ESRRB 2103 broad.mit.edu 37 14 76964656 76964656 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:76964656C>T ENST00000380887.2 + 7 1229 c.1157C>T c.(1156-1158)cCc>cTc p.P386L RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000509242.1_Missense_Mutation_p.P386L|ESRRB_ENST00000556177.1_Missense_Mutation_p.P386L|ESRRB_ENST00000261532.7_Missense_Mutation_p.P386L A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 386 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.P386L(2) endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CATGAGGAGCCCTGGAGGACG 0.617000 8 18 0 0 0.003080 0 0 ZNF676 163223 broad.mit.edu 37 19 22363955 22363955 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:22363955C>T ENST00000397121.2 - 3 881 c.564G>A c.(562-564)aaG>aaA p.K188K NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 188 TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TATGAATACTCTTATAATAAG 0.343000 23 41 0 0 0.002780 0 0 SRD5A2 6716 broad.mit.edu 37 2 31806033 31806033 + RNA SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:31806033T>G ENST00000405650.1 - 0 103 P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) CCGCAACCCCTTTATGGAGCG 0.726000 7 11 0 0 0.003080 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643778 37643778 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:37643778G>A ENST00000356958.4 - 5 1281 c.1023C>T c.(1021-1023)ctC>ctT p.L341L ZNF585A_ENST00000355533.2_Silent_p.L286L|ZNF585A_ENST00000392157.2_Silent_p.L286L|ZNF585A_ENST00000292841.5_Silent_p.L286L|ZNF585A_ENST00000588723.1_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATGTGTAACGAGGTTGGAAT 0.398000 35 98 0 0 0.003271 0 0 N4BP2 55728 broad.mit.edu 37 4 40104726 40104726 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:40104726C>T ENST00000261435.6 + 4 1677 c.1261C>T c.(1261-1263)Caa>Taa p.Q421* NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 421 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 AAGTGCTTATCAAGTACAAGA 0.413000 9 52 0 0 0.006214 0 0 MROH2B 133558 broad.mit.edu 37 5 41018804 41018804 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:41018804C>T ENST00000399564.4 - 26 3112 c.2662G>A c.(2662-2664)Gaa>Aaa p.E888K MROH2B_ENST00000506092.2_Missense_Mutation_p.E443K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTAAACATTTCTTGACAGTCC 0.398000 17 40 0 0 0.004990 0 0 CXCR1 3577 broad.mit.edu 37 2 219029138 219029138 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:219029138G>A ENST00000295683.2 - 2 917 c.797C>T c.(796-798)aCc>aTc p.T266I NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 266 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 CCTCATGAGGGTGTCTGCCAG 0.592000 28 68 0 0 0.005443 0 0 JPH4 84502 broad.mit.edu 37 14 24040243 24040243 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:24040243G>A ENST00000397118.3 - 6 2599 c.1697C>T c.(1696-1698)cCc>cTc p.P566L JPH4_ENST00000356300.4_Missense_Mutation_p.P566L|JPH4_ENST00000544177.1_Missense_Mutation_p.P231L NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 566 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CATGGCGATGGGCTCAGGCTC 0.682000 15 32 0 0 0.002450 0 0 OR51T1 401665 broad.mit.edu 37 11 4903321 4903321 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:4903321C>T ENST00000380378.1 + 1 273 c.273C>T c.(271-273)ttC>ttT p.F91F MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.F64F|MMP26_ENST00000380390.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTATTATTTCCTCTCCATGC 0.468000 21 64 0 0 0.002780 0 0 COL5A2 1290 broad.mit.edu 37 2 189901516 189901516 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:189901516A>G ENST00000374866.3 - 52 4213 c.3939T>C c.(3937-3939)atT>atC p.I1313I NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1313 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGTTAGGATCAATCCAGTATT 0.338000 10 16 0 0 0.001368 0 0 OR2M7 391196 broad.mit.edu 37 1 248487007 248487007 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:248487007G>A ENST00000317965.2 - 1 892 c.864C>T c.(862-864)ctC>ctT p.L288L NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGCTATAAATGAGAGGATTCA 0.423000 12 48 0 0 0.000978 0 0 STRA8 346673 broad.mit.edu 37 7 134925449 134925449 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:134925449C>T ENST00000275764.3 + 2 239 c.239C>T c.(238-240)tCt>tTt p.S80F NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 80 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 TACTCTCAGTCTGATCTCATA 0.602000 69 37 0 0 0.003610 0 0 LPAR4 2846 broad.mit.edu 37 X 78011197 78011197 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:78011197C>T ENST00000435339.2 + 2 1236 c.831C>T c.(829-831)tcC>tcT p.S277S LPAR4_ENST00000373301.2_Silent_p.S277S NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 277 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TGGTGCGCTCCCAAGCTATTA 0.408000 14 4 0 0 0.001855 0 0 XKR5 389610 broad.mit.edu 37 8 6682705 6682705 + RNA SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:6682705A>G ENST00000518724.1 - 0 559 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) ATATCTGTGAAGTCTGAGGCT 0.562000 18 42 0 0 0.002780 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49327569 49327569 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:49327569G>A ENST00000559471.1 - 3 753 c.490C>T c.(490-492)Cga>Tga p.R164* SECISBP2L_ENST00000261847.3_Nonsense_Mutation_p.R164* NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 164 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 TTTCTGCTTCGATGGCTGGAC 0.413000 12 53 0 0 0.002450 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999659 45999659 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:45999659C>G ENST00000400372.1 - 1 822 c.797G>C c.(796-798)tGc>tCc p.C266S TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 266 keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 CAGGCGGGAGCACGCGGGGCG 0.687000 14 29 0 0 0.004007 0 0 TUBB 203068 broad.mit.edu 37 6 30690766 30690766 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:30690766C>T ENST00000396389.1 + 3 777 c.184C>T c.(184-186)Cct>Tct p.P62S TUBB_ENST00000435534.1_Missense_Mutation_p.P80S|TUBB_ENST00000327892.8_Missense_Mutation_p.P80S|TUBB_ENST00000396384.1_Missense_Mutation_p.P8S|TUBB_ENST00000330914.3_Missense_Mutation_p.P8S P07437 TBB5_HUMAN tubulin, beta class I 80 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1) 16 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) TCGCTCAGGTCCTTTTGGCCA 0.428000 33 79 0 0 0.005524 0 0 JARID2 3720 broad.mit.edu 37 6 15468907 15468907 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:15468907C>A ENST00000341776.2 + 5 872 c.628C>A c.(628-630)Ccc>Acc p.P210T JARID2_ENST00000397311.3_Missense_Mutation_p.P38T|JARID2_ENST00000541660.1_Missense_Mutation_p.P172T NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 210 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CCAGTCGACCCCCAGGAAAGG 0.478000 26 49 2.65835e-16 3.08002e-16 0.007291 1 0 ILF3 3609 broad.mit.edu 37 19 10792729 10792729 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:10792729C>T ENST00000449870.1 + 12 1558 c.1241C>T c.(1240-1242)cCa>cTa p.P414L ILF3_ENST00000420083.1_Missense_Mutation_p.P414L|ILF3_ENST00000318511.3_Missense_Mutation_p.P414L|ILF3_ENST00000407004.3_Missense_Mutation_p.P414L|ILF3_ENST00000589998.1_Missense_Mutation_p.P414L|ILF3_ENST00000590261.1_Missense_Mutation_p.P414L|ILF3_ENST00000588657.1_Missense_Mutation_p.P414L|ILF3_ENST00000592763.1_Missense_Mutation_p.P414L|ILF3_ENST00000250241.8_Missense_Mutation_p.P414L NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 414 DRBM 1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CAGCTGAAGCCAGGGCTGCAG 0.572000 18 39 0 0 0.007413 0 0 OR4D9 390199 broad.mit.edu 37 11 59283128 59283128 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:59283128C>T ENST00000329328.3 + 1 743 c.743C>T c.(742-744)aCc>aTc p.T248I NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 ACCGTGGTGACCCTGCATTTC 0.557000 38 132 0 0 0.006999 0 0 IL37 27178 broad.mit.edu 37 2 113676317 113676317 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:113676317G>A ENST00000263326.3 + 5 630 c.588G>A c.(586-588)agG>agA p.R196R IL37_ENST00000352179.3_Silent_p.R175R|IL37_ENST00000353225.3_Silent_p.R156R|IL37_ENST00000311328.2_Silent_p.R170R|IL37_ENST00000349806.3_Silent_p.R135R NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 196 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 TTGAGAACAGGAAACACATTG 0.493000 16 27 0 0 0.004007 0 0 ATAD2 29028 broad.mit.edu 37 8 124408489 124408489 + Silent SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:124408489T>G ENST00000287394.5 - 1 216 c.109A>C c.(109-111)Agg>Cgg p.R37R ATAD2_ENST00000521903.1_Intron NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CGGAGCCGCCTCCGGCCGATG 0.706000 4 6 0 0 0.009096 0 0 SGK223 157285 broad.mit.edu 37 8 8235327 8235327 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:8235327G>A ENST00000520004.1 - 3 856 c.592C>T c.(592-594)Caa>Taa p.Q198* SGK223_ENST00000330777.4_Nonsense_Mutation_p.Q198* Q86YV5 SG223_HUMAN 198 ATP binding|non-membrane spanning protein tyrosine kinase activity GGCCGGTCTTGGTAAGGAAAT 0.617000 36 79 0 0 0.005524 0 0 FAT3 120114 broad.mit.edu 37 11 92086953 92086953 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:92086953G>A ENST00000298047.6 + 1 1692 c.1675G>A c.(1675-1677)Gaa>Aaa p.E559K FAT3_ENST00000541502.1_Missense_Mutation_p.E559K|FAT3_ENST00000525166.1_Missense_Mutation_p.E409K|FAT3_ENST00000409404.2_Missense_Mutation_p.E559K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 559 Cadherin 5. 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) ATACCGCCATGAAAGTGAGGT 0.423000 TCGA Ovarian(4;0.039) 166 353 0 0 0.003610 0 0 PKD1L1 168507 broad.mit.edu 37 7 47884669 47884669 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:47884669G>A ENST00000289672.2 - 33 5211 c.5161C>T c.(5161-5163)Cgc>Tgc p.R1721C NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1721 GPS. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GCCGCGAGGCGATGGTAGCTA 0.463000 12 37 0 0 0.001855 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252312 145252312 + Nonsense_Mutation SNP G G A rs151087704 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:145252312G>A ENST00000377976.1 - 1 219 c.220C>T c.(220-222)Cag>Tag p.Q74* NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 74 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GAGCACATCTGGGGCCTGGGG 0.512000 34 71 0 0 0.002836 0 0 KIAA1804 84451 broad.mit.edu 37 1 233482338 233482338 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:233482338C>T ENST00000366624.3 + 2 1217 c.956C>T c.(955-957)tCc>tTc p.S319F MLK4_ENST00000366623.3_Missense_Mutation_p.S319F NM_032435.2 NP_115811.2 ATCAAGTCTTCCTTGTTTTCT 0.478000 5 18 0 0 0.000602 0 0 CMTR1 23070 broad.mit.edu 37 6 37426561 37426561 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:37426561C>T ENST00000373451.4 + 9 1115 c.951C>T c.(949-951)tcC>tcT p.S317S NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 317 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 ACTCTGCTTCCAGTGAACTCT 0.507000 30 56 0 0 0.003271 0 0 EXPH5 23086 broad.mit.edu 37 11 108409889 108409889 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:108409889C>T ENST00000265843.4 - 3 415 c.305G>A c.(304-306)aGa>aAa p.R102K EXPH5_ENST00000525344.1_Missense_Mutation_p.R95K|EXPH5_ENST00000428840.1_Missense_Mutation_p.R26K NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 102 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ATTTTTAGATCTTGATGTAGG 0.338000 27 49 0 0 0.007291 0 0 TFPT 29844 broad.mit.edu 37 19 54611389 54611389 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:54611389G>A ENST00000391759.1 - 5 991 c.586C>T c.(586-588)Cca>Tca p.P196S TFPT_ENST00000391757.1_Silent_p.C183C|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.P187S NM_013342.3 NP_037474.1 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner (in childhood Leukemia) 196 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) CCATCCCGTGGCACTCGCCGC 0.692000 T TCF3 pre-B ALL 16 47 0 0 0.008871 0 0 CDH18 1016 broad.mit.edu 37 5 19612677 19612677 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:19612677C>T ENST00000507958.1 - 8 1667 c.677G>A c.(676-678)aGa>aAa p.R226K CDH18_ENST00000511273.1_Missense_Mutation_p.R226K|CDH18_ENST00000506372.1_Missense_Mutation_p.R226K|CDH18_ENST00000274170.4_Missense_Mutation_p.R226K|CDH18_ENST00000502796.1_Missense_Mutation_p.R226K|CDH18_ENST00000382275.1_Missense_Mutation_p.R226K Q13634 CAD18_HUMAN cadherin 18, type 2 226 Cadherin 2. R -> G (in Ref. 4; AAH31051). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCTGGCTTCTCTGTCCATGTT 0.383000 15 28 0 0 0.004007 0 0 LGI1 9211 broad.mit.edu 37 10 95517914 95517914 + Nonsense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:95517914A>T ENST00000371418.4 + 1 273 c.13A>T c.(13-15)Aga>Tga p.R5* LGI1_ENST00000371413.3_Nonsense_Mutation_p.R5*|LGI1_ENST00000542308.1_Nonsense_Mutation_p.R5*|LGI1_ENST00000478763.1_3'UTR NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 5 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) GGAATCAGAAAGAAGCAAAAG 0.443000 6 21 0 0 0.003080 0 0 KCNF1 3754 broad.mit.edu 37 2 11052667 11052667 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:11052667G>A ENST00000295082.1 + 1 605 c.115G>A c.(115-117)Gac>Aac p.D39N NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 39 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GCTGTACGGGGACCTCCTCAG 0.662000 7 23 0 0 0.004482 0 0 NPAP1 23742 broad.mit.edu 37 15 24923425 24923425 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:24923425C>T ENST00000329468.2 + 1 2885 c.2411C>T c.(2410-2412)tCc>tTc p.S804F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCAGACACCTCCACTTTAGTG 0.532000 52 77 0 0 0.003610 0 0 PROKR2 128674 broad.mit.edu 37 20 5294791 5294791 + Silent SNP G G A rs139296723 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:5294791G>A ENST00000546004.1 - 2 471 c.225C>T c.(223-225)atC>atT p.I75I PROKR2_ENST00000217270.3_Silent_p.I75I Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 75 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TGAGGGCAGCGATAAAGACAA 0.552000 HNSCC(71;0.22) 25 62 0 0 0.003954 0 0 MUC16 94025 broad.mit.edu 37 19 9058908 9058908 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9058908T>G ENST00000397910.4 - 3 28741 c.28538A>C c.(28537-28539)cAc>cCc p.H9513P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9515 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCAAAAACGTGAATTGCCTC 0.483000 44 87 0 0 0.003610 0 0 SPARC 6678 broad.mit.edu 37 5 151051159 151051159 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:151051159G>A ENST00000231061.4 - 5 618 c.305C>T c.(304-306)cCa>cTa p.P102L NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 102 Kazal-like. ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) AATGGGGGCTGGGCAGCTGGT 0.592000 50 113 0 0 0.003610 0 0 GALNT2 2590 broad.mit.edu 37 1 230338955 230338955 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:230338955C>T ENST00000366672.4 + 3 365 c.293C>T c.(292-294)cCt>cTt p.P98L GALNT2_ENST00000541865.1_Missense_Mutation_p.P8L|GALNT2_ENST00000543760.1_Missense_Mutation_p.P60L NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 98 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GGGCAGGACCCTTACGCCCGC 0.547000 23 92 0 0 0.003954 0 0 PRB2 653247 broad.mit.edu 37 12 11546609 11546609 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:11546609G>A ENST00000389362.4 - 3 438 c.403C>T c.(403-405)Cct>Tct p.P135S PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTCCTGGAGGAGGTGGAGGA 0.602000 125 165 0 0 0.003610 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51957944 51957944 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:51957944A>G ENST00000321424.3 - 5 1208 c.1142T>C c.(1141-1143)tTc>tCc p.F381S SIGLEC8_ENST00000340550.5_Missense_Mutation_p.F288S|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.F272S NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 381 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCACATGATGAAGATGATGCA 0.597000 28 69 0 0 0.009535 0 0 ZNF536 9745 broad.mit.edu 37 19 31039043 31039043 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:31039043G>A ENST00000355537.3 + 4 2664 c.2517G>A c.(2515-2517)agG>agA p.R839R NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 839 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.R839S(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACATCCTGAGGGGGGCCTTCA 0.582000 38 75 0 0 0.005524 0 0 VAMP7 6845 broad.mit.edu 37 X 155127842 155127842 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:155127842G>A ENST00000286448.6 + 4 436 c.271G>A c.(271-273)Ggt>Agt p.G91S VAMP7_ENST00000460621.1_Missense_Mutation_p.G50S|VAMP7_ENST00000262640.6_Missense_Mutation_p.G91S|VAMP7_ENST00000479687.1_3'UTR NM_001145149.2|NM_005638.5 NP_001138621.1|NP_005629.1 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 91 Longin. calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GACTACTTACGGTTCAAGAGC 0.403000 66 79 0 0 0.003610 0 0 MYO18B 84700 broad.mit.edu 37 22 26164884 26164884 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:26164884A>G ENST00000335473.7 + 4 1251 c.1001A>G c.(1000-1002)aAg>aGg p.K334R MYO18B_ENST00000407587.2_Missense_Mutation_p.K334R|MYO18B_ENST00000536101.1_Missense_Mutation_p.K334R NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 334 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCCCAGAATAAGAAGGACAAA 0.552000 4 14 0 0 0.009096 0 0 ANK3 288 broad.mit.edu 37 10 61833102 61833102 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:61833102C>T ENST00000280772.1 - 37 7728 c.7537G>A c.(7537-7539)Gaa>Aaa p.E2513K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2513 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAGAGAATTTCTTTTTTGGGG 0.418000 29 41 0 0 0.002445 0 0 PCDH18 54510 broad.mit.edu 37 4 138442640 138442640 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:138442640G>A ENST00000344876.4 - 4 3337 c.2951C>T c.(2950-2952)tCc>tTc p.S984F PCDH18_ENST00000510305.1_Missense_Mutation_p.S195F|PCDH18_ENST00000412923.2_Missense_Mutation_p.S983F|PCDH18_ENST00000511115.1_Missense_Mutation_p.S164F|PCDH18_ENST00000507846.1_Missense_Mutation_p.S763F NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 984 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCCAAAGGTGGAAAAACTCTT 0.522000 13 44 0 0 0.001368 0 0 ATP1A2 477 broad.mit.edu 37 1 160098476 160098476 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:160098476G>A ENST00000361216.3 + 9 1141 c.1052G>A c.(1051-1053)cGg>cAg p.R351Q ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R351Q NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 351 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.R351Q(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGCATGGCACGGAAGAACTGC 0.577000 9 52 0 0 0.000978 0 0 FARP1 10160 broad.mit.edu 37 13 99047617 99047617 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:99047617C>T ENST00000376586.2 + 13 1637 c.1301C>T c.(1300-1302)cCc>cTc p.P434L FARP1_ENST00000319562.6_Missense_Mutation_p.P434L|FARP1_ENST00000595437.1_Missense_Mutation_p.P434L Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 434 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AGGAGAAGCCCCGCGGGTAAC 0.692000 10 16 0 0 0.006214 0 0 EXTL1 2134 broad.mit.edu 37 1 26361662 26361662 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:26361662G>A ENST00000374280.3 + 11 2722 c.1855G>A c.(1855-1857)Ggg>Agg p.G619R NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 619 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TTAGGCGCCTGGGGGCCCGGG 0.622000 38 60 0 0 0.003214 0 0 WWC1 23286 broad.mit.edu 37 5 167894896 167894896 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:167894896A>G ENST00000265293.4 + 22 3704 c.3202A>G c.(3202-3204)Agg>Ggg p.R1068G WWC1_ENST00000521089.1_Missense_Mutation_p.R1074G NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 1068 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CAAGATGATGAGGGCAGCTGC 0.607000 26 44 0 0 0.005443 0 0 TENM3 55714 broad.mit.edu 37 4 183594198 183594198 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:183594198T>A ENST00000511685.1 + 7 1275 c.1152T>A c.(1150-1152)gaT>gaA p.D384E TENM3_ENST00000406950.2_Missense_Mutation_p.D384E teneurin transmembrane protein 3 ACACCATAGATTCCGGAGAAC 0.358000 6 5 0 0 0.001168 0 0 CUBN 8029 broad.mit.edu 37 10 17156031 17156031 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:17156031G>A ENST00000377833.4 - 8 943 c.878C>T c.(877-879)cCa>cTa p.P293L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 293 EGF-like 3; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGTACCTGTTGGACAGGCCCC 0.527000 5 8 0 0 0.001984 0 0 CD33 945 broad.mit.edu 37 19 51729138 51729138 + Silent SNP C C T rs147729352 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:51729138C>T ENST00000436584.2 + 2 172 c.117C>T c.(115-117)tcC>tcT p.S39S CD33_ENST00000391796.3_Silent_p.S166S|CD33_ENST00000421133.2_Silent_p.S39S|CD33_ENST00000262262.4_Silent_p.S166S P20138 CD33_HUMAN CD33 molecule 166 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GCTCTGTGTCCTGGGCCTGTG 0.587000 28 76 0 0 0.006320 0 0 BCL6B 255877 broad.mit.edu 37 17 6930094 6930094 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:6930094C>T ENST00000293805.5 + 7 1217 c.1125C>T c.(1123-1125)agC>agT p.S375S NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 375 nucleus zinc ion binding skin(1) 1 AAACGCACAGCCGCATCCATT 0.567000 40 49 0 0 0.009718 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170008 20170008 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:20170008G>A ENST00000338912.5 - 0 263 CCCTGGTTATGGTGACTCTGC 0.542000 18 102 0 0 0.004990 0 0 RNF216 54476 broad.mit.edu 37 7 5769131 5769131 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:5769131C>T ENST00000425013.2 - 7 1374 c.1150G>A c.(1150-1152)Gtg>Atg p.V384M RNF216_ENST00000389902.3_Missense_Mutation_p.V441M NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 384 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CTACTGAGCACTTTGAAGTCG 0.488000 31 70 0 0 0.009535 0 0 NLRP8 126205 broad.mit.edu 37 19 56485109 56485109 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:56485109G>A ENST00000291971.3 + 7 2697 c.2626G>A c.(2626-2628)Gaa>Aaa p.E876K NLRP8_ENST00000590542.1_Missense_Mutation_p.E857K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 876 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGCTTGGCAGAAAACGCCTT 0.502000 50 119 0 0 0.003610 0 0 TRIM3 10612 broad.mit.edu 37 11 6477646 6477646 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:6477646G>A ENST00000525074.1 - 6 1704 c.1310C>T c.(1309-1311)tCc>tTc p.S437F TRIM3_ENST00000537602.1_Missense_Mutation_p.S359F|TRIM3_ENST00000536344.1_Missense_Mutation_p.S318F|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000345851.3_Missense_Mutation_p.S437F|TRIM3_ENST00000359518.3_Missense_Mutation_p.S437F NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 437 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding p.S437Y(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCGCCAGGGGACTTGACACG 0.667000 17 27 0 0 0.004007 0 0 FAT3 120114 broad.mit.edu 37 11 92257829 92257829 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:92257829C>T ENST00000298047.6 + 2 3339 c.3322C>T c.(3322-3324)Cgg>Tgg p.R1108W FAT3_ENST00000541502.1_Missense_Mutation_p.R1108W|FAT3_ENST00000525166.1_Missense_Mutation_p.R958W|FAT3_ENST00000409404.2_Missense_Mutation_p.R1108W Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1108 Cadherin 10. 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) CATTCTTGATCGGGAGACAAT 0.438000 TCGA Ovarian(4;0.039) 126 241 0 0 0.003610 0 0 PIK3R5 23533 broad.mit.edu 37 17 8790920 8790920 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:8790920C>T ENST00000447110.1 - 11 1821 c.1697G>A c.(1696-1698)gGg>gAg p.G566E PIK3R5_ENST00000584803.1_Missense_Mutation_p.G566E|PIK3R5_ENST00000581552.1_Missense_Mutation_p.G566E NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 566 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 AGGGCTGGTCCCATGACTTCG 0.617000 12 8 0 0 0.001855 0 0 MTMR7 9108 broad.mit.edu 37 8 17188763 17188763 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:17188763C>T ENST00000180173.5 - 7 795 c.761G>A c.(760-762)gGg>gAg p.G254E MTMR7_ENST00000521857.1_Missense_Mutation_p.G254E NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 254 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) ATAGCCTTTCCCTGCAGCACG 0.383000 8 27 0 0 0.003080 0 0 DHX34 9704 broad.mit.edu 37 19 47885322 47885322 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:47885322C>T ENST00000328771.4 + 17 3733 c.3384C>T c.(3382-3384)ttC>ttT p.F1128F NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 1128 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GGAAGGACTTCCTCTTTACAC 0.642000 21 34 0 0 0.002299 0 0 NADK 65220 broad.mit.edu 37 1 1688705 1688705 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:1688705G>A ENST00000344463.4 - 6 841 c.620C>T c.(619-621)tCc>tTc p.S207F NADK_ENST00000492768.1_5'UTR|NADK_ENST00000341426.5_Missense_Mutation_p.S103F|NADK_ENST00000341991.3_Missense_Mutation_p.S103F|NADK_ENST00000342348.5_Missense_Mutation_p.S71F|NADK_ENST00000378625.1_Missense_Mutation_p.S207F O95544 NADK_HUMAN NAD kinase 103 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) GCTCTTTGGGGACTTGTTCCA 0.587000 44 107 0 0 0.003610 0 0 OR6N2 81442 broad.mit.edu 37 1 158746626 158746626 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:158746626G>A ENST00000339258.1 - 1 799 c.800C>T c.(799-801)tCc>tTc p.S267F NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) AAGGGTCAGGGAATAGCTCTT 0.428000 8 44 0 0 0.004482 0 0 MAP3K10 4294 broad.mit.edu 37 19 40720917 40720917 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:40720917C>T ENST00000253055.3 + 10 2871 c.2583C>T c.(2581-2583)ccC>ccT p.P861P NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 861 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TGCCCGACCCCCAGGCCCTGT 0.701000 17 22 0 0 0.007413 0 0 HHIP 64399 broad.mit.edu 37 4 145581006 145581006 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:145581006T>C ENST00000434550.2 + 4 1351 c.847T>C c.(847-849)Ttt>Ctt p.F283L HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000296575.3_Intron|HHIP_ENST00000511314.1_3'UTR Q96QV1 HHIP_HUMAN hedgehog interacting protein 148 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) Ctttttaaattttatttattt 0.313000 11 35 0 0 0.008291 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318512 79318512 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:79318512G>A ENST00000428286.1 - 9 8140 c.6940C>T c.(6940-6942)Cag>Tag p.Q2314* PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.Q2673* Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2673 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ATCTGCAGCTGGGGACCCTCA 0.557000 12 17 0 0 0.001368 0 0 UBR4 23352 broad.mit.edu 37 1 19479878 19479878 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:19479878G>A ENST00000375267.2 - 46 6752 c.6749C>T c.(6748-6750)tCc>tTc p.S2250F UBR4_ENST00000375254.3_Missense_Mutation_p.S2250F|UBR4_ENST00000375226.2_Missense_Mutation_p.S2250F|UBR4_ENST00000375217.2_Missense_Mutation_p.S2250F Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2250 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGCCAGTAGGAGGTGTTCTC 0.537000 37 77 0 0 0.004878 0 0 CHD4 1108 broad.mit.edu 37 12 6682350 6682350 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:6682350A>G ENST00000309577.6 - 37 5694 c.5531T>C c.(5530-5532)aTg>aCg p.M1844T CHD4_ENST00000544484.1_Missense_Mutation_p.M1841T|CHD4_ENST00000544040.1_Missense_Mutation_p.M1809T|CHD4_ENST00000357008.2_Missense_Mutation_p.M1816T Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1816 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GTTGAGGGCCATGGAAGGGTG 0.532000 31 97 0 0 0.002445 0 0 OR4D5 219875 broad.mit.edu 37 11 123811214 123811214 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:123811214C>T ENST00000307033.2 + 1 965 c.891C>T c.(889-891)gcC>gcT p.A297A NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGATCATGGCCATGAAGAAGC 0.498000 45 79 0 0 0.003610 0 0 INPPL1 3636 broad.mit.edu 37 11 71946225 71946225 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:71946225C>T ENST00000541756.1 + 22 2685 c.1755C>T c.(1753-1755)tcC>tcT p.S585S INPPL1_ENST00000538751.1_Silent_p.S585S|INPPL1_ENST00000298229.2_Silent_p.S827S O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 827 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CAGTCAAGTCCATGGATGGCT 0.547000 15 51 0 0 0.003163 0 0 LPHN2 23266 broad.mit.edu 37 1 82421744 82421744 + Splice_Site SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:82421744G>T ENST00000370728.1 + 13 2650 c.2005_splice c.e13+1 p.V669_splice LPHN2_ENST00000370721.1_Splice_Site_p.V594_splice|LPHN2_ENST00000359929.3_Splice_Site_p.V656_splice|LPHN2_ENST00000370725.1_Splice_Site_p.V669_splice|LPHN2_ENST00000335786.5_Splice_Site_p.V669_splice|LPHN2_ENST00000370717.2_Splice_Site_p.V669_splice|LPHN2_ENST00000370730.1_Splice_Site_p.V669_splice|LPHN2_ENST00000370723.1_Splice_Site_p.V656_splice|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Splice_Site_p.V669_splice|LPHN2_ENST00000319517.6_Splice_Site_p.V656_splice|LPHN2_ENST00000370715.1_Splice_Site_p.V656_splice|LPHN2_ENST00000394879.1_Splice_Site_p.V656_splice|LPHN2_ENST00000370713.1_Splice_Site_p.V656_splice|LPHN2_ENST00000271029.4_Splice_Site_p.V669_splice O95490 LPHN2_HUMAN latrophilin 2 669 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGAAAATATTGGTAAGTGAAT 0.358000 11 14 3.86212e-05 4.44481e-05 0.008291 1 0 COL1A1 1277 broad.mit.edu 37 17 48266114 48266114 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:48266114G>A ENST00000225964.5 - 42 3206 c.3088C>T c.(3088-3090)Cct>Tct p.P1030S NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1030 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) TTGGCGCCAGGAGAACCGTCT 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 35 42 0 0 0.005524 0 0 DNAH10 196385 broad.mit.edu 37 12 124305258 124305258 + Missense_Mutation SNP G G A rs142727450 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:124305258G>A ENST00000409039.3 + 23 3803 c.3778G>A c.(3778-3780)Gaa>Aaa p.E1260K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1260 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGTGCAGAAGGAAATGAGTGG 0.483000 32 83 0 0 0.006230 0 0 CDH7 1005 broad.mit.edu 37 18 63547807 63547807 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:63547807G>A ENST00000397968.2 + 12 2461 c.2035G>A c.(2035-2037)Gac>Aac p.D679N CDH7_ENST00000323011.3_Missense_Mutation_p.D679N NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 679 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CGTCATCCGAGACACCAAGAC 0.473000 20 38 0 0 0.008871 0 0 GDNF 2668 broad.mit.edu 37 5 37816031 37816031 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:37816031A>C ENST00000326524.2 - 3 557 c.358T>G c.(358-360)Tta>Gta p.L120V GDNF_ENST00000381826.4_Missense_Mutation_p.L111V|GDNF_ENST00000344622.4_Missense_Mutation_p.L94V|GDNF_ENST00000427982.1_Missense_Mutation_p.L137V|GDNF_ENST00000515058.1_Missense_Mutation_p.L94V NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 120 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) ATTGCAGTTAAGACACAACCC 0.512000 25 97 0 0 0.003330 0 0 TLL1 7092 broad.mit.edu 37 4 167020676 167020676 + Silent SNP C C T rs115401178 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:167020676C>T ENST00000061240.2 + 20 3551 c.2904C>T c.(2902-2904)tcC>tcT p.S968S TLL1_ENST00000507499.1_Silent_p.S991S NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 968 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCTGTGGATCCGGGGTAAATA 0.423000 20 59 0 0 0.010504 0 0 USH2A 7399 broad.mit.edu 37 1 216495296 216495296 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:216495296C>T ENST00000366943.2 - 9 1959 c.1573G>A c.(1573-1575)Gat>Aat p.D525N USH2A_ENST00000366942.3_Missense_Mutation_p.D525N|USH2A_ENST00000307340.3_Missense_Mutation_p.D525N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 525 Laminin EGF-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCGCAGTTATCGGCATGACCA 0.443000 HNSCC(13;0.011) 37 53 0 0 0.008740 0 0 PCDHA8 56140 broad.mit.edu 37 5 140220983 140220983 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140220983T>A ENST00000531613.1 + 1 77 c.77T>A c.(76-78)gTg>gAg p.V26E PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V26E NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGGAAGGTGGGGAGCGGC 0.612000 22 44 0 0 0.001882 0 0 KIF16B 55614 broad.mit.edu 37 20 16387034 16387034 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:16387034G>A ENST00000354981.2 - 16 1837 c.1680C>T c.(1678-1680)ctC>ctT p.L560L KIF16B_ENST00000355755.3_Silent_p.L560L|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.L560L NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 560 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TCTTCTCCCTGAGCTTGGCGG 0.473000 58 175 0 0 0.003610 0 0 ADAM28 10863 broad.mit.edu 37 8 24199265 24199265 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:24199265A>T ENST00000265769.4 + 16 1935 c.1825A>T c.(1825-1827)Aac>Tac p.N609Y RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.N356Y|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 609 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GTGTGGCGATAACAAGGTAAG 0.398000 35 50 0 0 0.003755 0 0 ABCB1 5243 broad.mit.edu 37 7 87170762 87170762 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:87170762C>T ENST00000265724.3 - 19 2647 c.2230G>A c.(2230-2232)Gat>Aat p.D744N ABCB1_ENST00000543898.1_Missense_Mutation_p.D680N NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 744 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GTTTCAGGATCATCAATTCTT 0.353000 44 41 0 0 0.003610 0 0 TNC 3371 broad.mit.edu 37 9 117849554 117849554 + Splice_Site SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:117849554T>C ENST00000350763.4 - 3 869 c.e3-2 TNC_ENST00000537320.1_Splice_Site|TNC_ENST00000535648.1_Splice_Site|TNC_ENST00000340094.3_Splice_Site|TNC_ENST00000346706.3_Splice_Site|TNC_ENST00000341037.4_Splice_Site|TNC_ENST00000423613.2_Splice_Site|TNC_ENST00000345230.3_Splice_Site|TNC_ENST00000542877.1_Splice_Site NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 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 CCAAGCGGCCTGCAACAAAAG 0.542000 12 13 0 0 0.001368 0 0 VSTM2A 222008 broad.mit.edu 37 7 54612430 54612430 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:54612430C>T ENST00000302287.3 + 2 601 c.195C>T c.(193-195)ttC>ttT p.F65F VSTM2A_ENST00000404951.1_Silent_p.F65F|VSTM2A_ENST00000402613.3_Silent_p.F65F|VSTM2A_ENST00000407838.3_Silent_p.F65F|VSTM2A_ENST00000402026.2_Silent_p.F64F Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 65 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) AATGGTGGTTCCTGCGGGGGC 0.716000 12 34 0 0 0.001855 0 0 RYR1 6261 broad.mit.edu 37 19 38996033 38996033 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:38996033G>A ENST00000355481.4 + 53 8526 c.8395G>A c.(8395-8397)Gag>Aag p.E2799K RYR1_ENST00000360985.3_Missense_Mutation_p.E2799K|RYR1_ENST00000359596.3_Missense_Mutation_p.E2799K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2799 6 X approximate repeats. 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) GACCTTTTCAGAGAAGGTGAC 0.517000 4 7 0 0 0.009096 0 0 HIVEP3 59269 broad.mit.edu 37 1 41979178 41979178 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:41979178G>A ENST00000372584.1 - 7 6728 c.5714C>T c.(5713-5715)gCc>gTc p.A1905V HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1905V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1905V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1905V NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1905 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGAGGCGGGGGCATCTGGGGG 0.687000 4 19 0 0 0.009096 0 0 PROL1 58503 broad.mit.edu 37 4 71275399 71275399 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:71275399G>A ENST00000399575.2 + 3 528 c.354G>A c.(352-354)agG>agA p.R118R PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 118 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) GACCTATTAGGATATTAAAAC 0.403000 21 94 0 0 0.002780 0 0 LIPE 3991 broad.mit.edu 37 19 42931082 42931082 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:42931082C>T ENST00000244289.4 - 1 496 c.220G>A c.(220-222)Gaa>Aaa p.E74K LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 74 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) GCTCTAGGTTCCTTCTGGGAT 0.522000 76 156 0 0 0.003610 0 0 RBP3 5949 broad.mit.edu 37 10 48390440 48390440 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:48390440C>T ENST00000224600.4 - 1 551 c.438G>A c.(436-438)atG>atA p.M146I NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 146 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) ACTCCCCCATCATGCTCAGCA 0.647000 37 35 0 0 0.004289 0 0 COL6A3 1293 broad.mit.edu 37 2 238303473 238303473 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:238303473C>T ENST00000295550.4 - 3 918 c.466G>A c.(466-468)Gat>Aat p.D156N COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.D156N|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.D156N|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 156 Nonhelical region.|VWFA 1. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCAAGGCCATCCTTCGAGTGT 0.498000 23 48 0 0 0.002780 0 0 VPS8 23355 broad.mit.edu 37 3 184689489 184689489 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:184689489C>T ENST00000437079.3 + 40 3540 c.3369C>T c.(3367-3369)acC>acT p.T1123T VPS8_ENST00000446204.2_Silent_p.T1031T|VPS8_ENST00000436792.2_Silent_p.T1121T|VPS8_ENST00000287546.4_Silent_p.T1123T NM_001009921.2 NP_001009921.1 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 1123 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TGGTGGAGACCATTGCTCTTT 0.383000 11 21 0 0 0.002450 0 0 STAB1 23166 broad.mit.edu 37 3 52550252 52550252 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:52550252G>A ENST00000321725.6 + 38 4218 c.4142G>A c.(4141-4143)gGa>gAa p.G1381E NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1381 Laminin EGF-like 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AACTGCACCGGAGGTGAGGAC 0.687000 18 23 0 0 0.007413 0 0 BRINP3 339479 broad.mit.edu 37 1 190067226 190067226 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:190067226C>T ENST00000367462.3 - 8 2454 c.2223G>A c.(2221-2223)agG>agA p.R741R FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.R639R NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 741 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CAGATTGGATCCTCACCACCT 0.443000 23 78 0 0 0.001882 0 0 DSG2 1829 broad.mit.edu 37 18 29111134 29111134 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:29111134G>A ENST00000261590.8 + 9 1408 c.1199G>A c.(1198-1200)aGc>aAc p.S400N NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 400 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) GTTAGCGAGAGCATGGATAGA 0.403000 16 59 0 0 0.006122 0 0 NPC1 4864 broad.mit.edu 37 18 21137137 21137137 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:21137137G>A ENST00000269228.5 - 7 1453 c.899C>T c.(898-900)tCc>tTc p.S300F NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S33F NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 300 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGTGTACTCGGAGACAAAATA 0.383000 4 14 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179604270 179604270 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179604270C>T ENST00000589042.1 - 48 13914 c.13690G>A c.(13690-13692)Gaa>Aaa p.E4564K TTN_ENST00000359218.5_Missense_Mutation_p.E4326K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4201K|TTN_ENST00000342175.6_Missense_Mutation_p.E4393K|TTN_ENST00000591111.1_Missense_Mutation_p.E4247K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4247 Ig-like 25. 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) TCTTGTTTTTCGTCAGAGACA 0.428000 33 64 0 0 0.003271 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75091075 75091075 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:75091075C>T ENST00000395759.2 + 6 796 c.769C>T c.(769-771)Cat>Tat p.H257Y MTHFD2L_ENST00000433372.1_Missense_Mutation_p.H122Y|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.H199Y|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.H199Y NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 199 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) ACTGAAGATTCATACGCAGCT 0.393000 20 108 0 0 0.001882 0 0 GPR132 29933 broad.mit.edu 37 14 105518000 105518000 + Silent SNP G G A rs148183695 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:105518000G>A ENST00000329797.3 - 4 1385 c.474C>T c.(472-474)acC>acT p.T158T GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.T158T|GPR132_ENST00000392585.2_Silent_p.T149T NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 158 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) TGAGGATGGCGGTCCTCCGGC 0.617000 18 37 0 0 0.007413 0 0 GRM5 2915 broad.mit.edu 37 11 88781001 88781001 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:88781001C>T ENST00000418177.2 - 2 407 c.40G>A c.(40-42)Gaa>Aaa p.E14K GRM5_ENST00000305447.4_Missense_Mutation_p.E14K|GRM5_ENST00000305432.5_Missense_Mutation_p.E14K|GRM5_ENST00000393294.3_Missense_Mutation_p.E14K|GRM5_ENST00000455756.2_Missense_Mutation_p.E14K|GRM5_ENST00000393297.1_Missense_Mutation_p.E14K P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 14 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CGGACATCTTCTTTCAAAAGT 0.478000 14 26 0 0 0.004007 0 0 CREB3L3 84699 broad.mit.edu 37 19 4171958 4171958 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:4171958G>A ENST00000078445.2 + 10 1525 c.1378G>A c.(1378-1380)Gag>Aag p.E460K CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000252587.3_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E459K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E458K NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 460 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGGGAGACGAGCTGTGAGC 0.701000 4 5 0 0 0.000602 0 0 COL17A1 1308 broad.mit.edu 37 10 105819447 105819447 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:105819447C>T ENST00000353479.5 - 15 1461 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K COL17A1_ENST00000369733.3_Missense_Mutation_p.E391K|COL17A1_ENST00000393211.3_Missense_Mutation_p.E391K NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 391 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GCTTGCTTTTCTTTTTTTAGG 0.438000 15 36 0 0 0.001882 0 0 GTF2E1 2960 broad.mit.edu 37 3 120495385 120495385 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:120495385A>T ENST00000283875.5 + 4 859 c.766A>T c.(766-768)Att>Ttt p.I256F NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 256 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) GAATGTTGTCATTAACATGGA 0.502000 38 76 0 0 0.004289 0 0 TTN 7273 broad.mit.edu 37 2 179440268 179440268 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179440268C>T ENST00000589042.1 - 326 70815 c.70591G>A c.(70591-70593)Gaa>Aaa p.E23531K TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14591K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E20963K|TTN_ENST00000460472.2_Missense_Mutation_p.E14466K|TTN_ENST00000342175.6_Missense_Mutation_p.E14658K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E21890K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21890 Ig-like 119. 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) GATGGTGCTTCAGAGGCTTTT 0.488000 106 228 0 0 0.003610 0 0 HERC2 8924 broad.mit.edu 37 15 28457652 28457652 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:28457652G>A ENST00000261609.7 - 43 6972 c.6864C>T c.(6862-6864)aaC>aaT p.N2288N NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2288 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) TTCCAGCGAGGTTCACCAACT 0.498000 16 44 0 0 0.007413 0 0 C8orf34 116328 broad.mit.edu 37 8 69381046 69381046 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:69381046C>T ENST00000337103.4 + 3 1986 c.394C>T c.(394-396)Ctc>Ttc p.L132F C8orf34_ENST00000348340.2_Missense_Mutation_p.L157F|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Missense_Mutation_p.L157F|C8orf34_ENST00000518698.1_Missense_Mutation_p.L243F Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 157 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CCTTGAGAATCTCTCTCGAAG 0.388000 4 29 0 0 0.000602 0 0 MS4A15 219995 broad.mit.edu 37 11 60531206 60531206 + Translation_Start_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:60531206G>A ENST00000405633.3 + 0 79 MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_De_novo_Start_InFrame NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 CTCTGAGCACGATGTCTGCAG 0.517000 32 65 0 0 0.002445 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115711 220115711 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:220115711G>A ENST00000392088.2 - 4 1220 c.665C>T c.(664-666)tCc>tTc p.S222F TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Missense_Mutation_p.S237F NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 237 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGTGATGGAGGAGACAAT 0.567000 19 46 0 0 0.008871 0 0 TFAP4 7023 broad.mit.edu 37 16 4310097 4310097 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:4310097G>A ENST00000204517.6 - 6 1144 c.816C>T c.(814-816)atC>atT p.I272I NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 272 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GTACCTGCACGATGGTGTCCA 0.582000 31 36 0 0 0.003755 0 0 CRYM-AS1 400508 broad.mit.edu 37 16 21328395 21328395 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:21328395G>A ENST00000444326.1 + 0 511 GAAGTACTGTGGTTCAGGGTA 0.373000 45 50 0 0 0.009718 0 0 FAM227B 196951 broad.mit.edu 37 15 49663592 49663592 + Silent SNP G G A rs145082626 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:49663592G>A ENST00000299338.6 - 12 1320 c.1017C>T c.(1015-1017)atC>atT p.I339I NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TATTGAAGTCGATACCTAAAA 0.328000 14 87 0 0 0.003163 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26236498 26236498 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:26236498C>T ENST00000354667.4 - 5 608 c.440G>A c.(439-441)aGg>aAg p.R147K HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R135K NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 147 RRM 2. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 TCCAGACTGCCTATCAGTAAT 0.358000 T ETV1 prostate 46 121 0 0 0.003610 0 0 HTR1A 3350 broad.mit.edu 37 5 63256778 63256778 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:63256778C>T ENST00000323865.3 - 1 1002 c.769G>A c.(769-771)Gag>Aag p.E257K RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 257 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CTCCCCGACTCTCCATTCACA 0.652000 26 67 0 0 0.003330 0 0 CRYBB1 1414 broad.mit.edu 37 22 26997875 26997875 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:26997875G>A ENST00000215939.2 - 5 673 c.543C>T c.(541-543)gaC>gaT p.D181D NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 181 Beta/gamma crystallin 'Greek key' 3. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 TGCCCACGCGGTCACTGAAGC 0.597000 24 44 0 0 0.003330 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47189487 47189487 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:47189487A>T ENST00000524782.1 - 12 1406 c.1178T>A c.(1177-1179)aTc>aAc p.I393N ARFGAP2_ENST00000319543.6_Missense_Mutation_p.I124N|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.I257N|ARFGAP2_ENST00000395449.3_Intron|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.I286N NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 393 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GATGCTTGAGATGGTCACTTC 0.453000 7 9 0 0 0.001984 0 0 TAB2 23118 broad.mit.edu 37 6 149720314 149720314 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:149720314C>T ENST00000367456.1 + 7 2510 c.1933C>T c.(1933-1935)Ccc>Tcc p.P645S TAB2_ENST00000538427.1_Missense_Mutation_p.P645S|TAB2_ENST00000286332.5_Missense_Mutation_p.P645S|TAB2_ENST00000536230.1_Missense_Mutation_p.P613S Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 645 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 GCCACCAAAACCCAAAGGTTA 0.323000 11 28 0 0 0.001855 0 0 NBAS 51594 broad.mit.edu 37 2 15555702 15555702 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:15555702G>A ENST00000281513.5 - 25 2930 c.2905C>T c.(2905-2907)Ccc>Tcc p.P969S NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 969 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ATCTTCAGGGGAAATTTTAAG 0.358000 29 79 0 0 0.002445 0 0 TBCD 6904 broad.mit.edu 37 17 80847546 80847546 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:80847546C>T ENST00000355528.4 + 16 1666 c.1536C>T c.(1534-1536)gcC>gcT p.A512A TBCD_ENST00000539345.2_Silent_p.A512A|TBCD_ENST00000397466.2_Silent_p.A126A NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 512 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity p.A512A(1) Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CTCCGCAGGCCGCCTTCCAGG 0.502000 16 28 0 0 0.007413 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157523 26157523 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:26157523G>T ENST00000325250.1 + 2 608 c.421G>T c.(421-423)Gat>Tat p.D141Y NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 141 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 TATCAGGAAGGATAAGTGTCA 0.423000 3 2 0.004672 0.00535301 0.004672 1 0 MGAM 8972 broad.mit.edu 37 7 141770800 141770800 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:141770800G>A ENST00000475668.2 + 44 5122 c.5068G>A c.(5068-5070)Gat>Aat p.D1690N MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1690 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCAGGGTGTGGATATTAATGC 0.542000 39 55 0 0 0.003214 0 0 VPS18 57617 broad.mit.edu 37 15 41194915 41194915 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:41194915A>T ENST00000220509.5 + 5 2637 c.2298A>T c.(2296-2298)gaA>gaT p.E766D VPS18_ENST00000558474.1_3'UTR NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 766 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TGGTGCAGGAAGAGGAAGATG 0.562000 6 31 0 0 0.001984 0 0 ARAP2 116984 broad.mit.edu 37 4 36168569 36168569 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:36168569G>A ENST00000303965.4 - 10 2447 c.1958C>T c.(1957-1959)cCc>cTc p.P653L NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 653 PH 2. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 ACTCCTGTAGGGAGTGATTAT 0.358000 11 42 0 0 0.000978 0 0 NT5C3B 115024 broad.mit.edu 37 17 39985093 39985093 + Silent SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:39985093C>A ENST00000269534.8 - 7 593 c.492G>T c.(490-492)gtG>gtT p.V164V NT5C3B_ENST00000435506.2_Silent_p.V172V|NT5C3B_ENST00000521789.1_Silent_p.V139V NM_052935.4 NP_443167.4 5'-nucleotidase, cytosolic IIIB TGGGGTGGAACACTTTCATCT 0.458000 38 60 2.19358e-23 2.5463e-23 0.005524 1 0 CNR1 1268 broad.mit.edu 37 6 88854756 88854756 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:88854756C>T ENST00000537554.1 - 2 3800 c.238G>A c.(238-240)Gaa>Aaa p.E80K CNR1_ENST00000549716.1_Intron|CNR1_ENST00000369499.2_Missense_Mutation_p.E80K|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000535130.1_Missense_Mutation_p.E80K|CNR1_ENST00000428600.2_Missense_Mutation_p.E80K|CNR1_ENST00000369501.2_Missense_Mutation_p.E80K|CNR1_ENST00000468898.1_Missense_Mutation_p.E47K|CNR1_ENST00000549890.1_Missense_Mutation_p.E80K NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 80 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TTGTAAAATTCTGTAATGTTC 0.478000 18 26 0 0 0.010504 0 0 SLIT2 9353 broad.mit.edu 37 4 20618763 20618763 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:20618763G>A ENST00000504154.1 + 35 4330 c.4078G>A c.(4078-4080)Gaa>Aaa p.E1360K SLIT2_ENST00000503823.1_Missense_Mutation_p.E1352K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E1356K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1373K NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1360 EGF-like 7. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CGAGTGCCAGGAAGGATGGAT 0.572000 22 37 0 0 0.003330 0 0 FGGY 55277 broad.mit.edu 37 1 60073487 60073487 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:60073487C>T ENST00000371218.4 + 9 1100 c.916C>T c.(916-918)Ccg>Tcg p.P306S FGGY_ENST00000303721.7_Missense_Mutation_p.P306S|FGGY_ENST00000371212.1_Missense_Mutation_p.P218S|FGGY_ENST00000371210.1_Missense_Mutation_p.P7S|FGGY_ENST00000474476.1_3'UTR NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 306 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) CAGCAAAGACCCGATTTTTGT 0.458000 24 72 0 0 0.003954 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395934 47395934 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:47395934C>T ENST00000310638.4 - 12 1444 c.1413G>A c.(1411-1413)acG>acA p.T471T CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.T472T NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 471 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GGGTCAGGGCCGTGGCCACCT 0.542000 34 74 0 0 0.004878 0 0 SLC38A1 81539 broad.mit.edu 37 12 46592408 46592408 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:46592408C>T ENST00000398637.5 - 14 1816 c.1122_splice c.e14+1 p.T374_splice SLC38A1_ENST00000439706.1_Splice_Site_p.T374_splice|SLC38A1_ENST00000549049.1_Splice_Site_p.T374_splice|SLC38A1_ENST00000546893.1_Splice_Site_p.T374_splice|SLC38A1_ENST00000552197.1_Splice_Site_p.T374_splice NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 374 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CCTTACTCACCGTGAAAAATA 0.498000 9 26 0 0 0.006214 0 0 C2orf53 339779 broad.mit.edu 37 2 27360240 27360240 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:27360240C>T ENST00000335524.3 - 3 1483 c.958G>A c.(958-960)Gaa>Aaa p.E320K NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 320 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) GGCCCTGCTTCCTTCGGCCTT 0.667000 29 46 0 0 0.005443 0 0 WNK4 65266 broad.mit.edu 37 17 40940333 40940333 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:40940333C>T ENST00000246914.5 + 10 1969 c.1948C>T c.(1948-1950)Ctt>Ttt p.L650F WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 650 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGCTTCAGGCCTTAGCGATGT 0.577000 10 51 0 0 0.000978 0 0 SERINC5 256987 broad.mit.edu 37 5 79441966 79441966 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:79441966G>A ENST00000507668.2 - 11 1335 c.1185C>T c.(1183-1185)ttC>ttT p.F395F SERINC5_ENST00000509193.1_Silent_p.F393F|SERINC5_ENST00000512721.1_Silent_p.F395F|SERINC5_ENST00000512972.2_Silent_p.F395F NM_001174071.1|NM_178276.5 NP_001167542.1|NP_840060.1 Q86VE9 SERC5_HUMAN serine incorporator 5 395 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GGAAGAACACGAAGTGGAAGT 0.488000 51 109 0 0 0.003610 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115710 220115710 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:220115710G>A ENST00000392088.2 - 4 1221 c.666C>T c.(664-666)tcC>tcT p.S222S TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Silent_p.S237S NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 237 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGCTGTGATGGAGGAGACAA 0.562000 20 43 0 0 0.010504 0 0 ERC2 26059 broad.mit.edu 37 3 56468846 56468846 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:56468846G>A ENST00000288221.6 - 2 445 c.190C>T c.(190-192)Ctg>Ttg p.L64L NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 64 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGATCACTCAGATACATGGGT 0.512000 42 105 0 0 0.009718 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49667782 49667782 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:49667782G>A ENST00000249601.4 - 5 900 c.604C>T c.(604-606)Ctg>Ttg p.L202L ARHGAP22_ENST00000417247.2_Silent_p.L112L|ARHGAP22_ENST00000435790.2_Silent_p.L208L|ARHGAP22_ENST00000417912.2_Silent_p.L218L|ARHGAP22_ENST00000374170.1_Silent_p.L112L|ARHGAP22_ENST00000374172.1_Silent_p.L93L NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 202 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCCTCACCAGGTTGGCCTGG 0.632000 59 66 0 0 0.003610 0 0 MAST4 375449 broad.mit.edu 37 5 66459555 66459555 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:66459555G>A ENST00000404260.3 + 29 4865 c.4557G>A c.(4555-4557)cgG>cgA p.R1519R MAST4_ENST00000403666.1_Silent_p.R1327R|MAST4_ENST00000261569.7_Silent_p.R1322R|MAST4_ENST00000405643.1_Silent_p.R1337R|MAST4_ENST00000403625.2_Silent_p.R1516R O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1519 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CAGTCTCCCGGAAGGTGGGCC 0.652000 6 15 0 0 0.001168 0 0 THEMIS 387357 broad.mit.edu 37 6 128134804 128134804 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:128134804G>A ENST00000368250.1 - 5 1243 c.745C>T c.(745-747)Cct>Tct p.P249S THEMIS_ENST00000368248.2_Missense_Mutation_p.P328S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P293S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P328S Q8N1K5 THMS1_HUMAN thymocyte selection associated 328 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TGTCTTTTAGGAAAATTGCTT 0.458000 27 68 0 0 0.005443 0 0 HPS3 84343 broad.mit.edu 37 3 148884855 148884855 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:148884855C>T ENST00000296051.2 + 15 2764 c.2624C>T c.(2623-2625)tCc>tTc p.S875F HPS3_ENST00000460120.1_Missense_Mutation_p.S710F NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 875 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GACATAGCTTCCATTATTCCG 0.403000 Hermansky-Pudlak syndrome 42 124 0 0 0.003214 0 0 RBMS2 5939 broad.mit.edu 37 12 56965498 56965498 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:56965498C>T ENST00000262031.5 + 5 496 c.401C>T c.(400-402)cCc>cTc p.P134L RBMS2_ENST00000552247.2_Missense_Mutation_p.P134L|RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_Missense_Mutation_p.P9L NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 134 RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 GAACAGGACCCCACAAATTTA 0.493000 19 57 0 0 0.002780 0 0 GABRR3 200959 broad.mit.edu 37 3 97731256 97731256 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:97731256G>A ENST00000472788.1 - 0 463 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 TTGTATCATGGATGAAGGATC 0.438000 15 43 0 0 0.003163 0 0 CD1E 913 broad.mit.edu 37 1 158325692 158325692 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:158325692G>A ENST00000444681.2 + 3 697 c.404G>A c.(403-405)gGa>gAa p.G135E CD1E_ENST00000368163.3_Missense_Mutation_p.G234E|CD1E_ENST00000368157.1_Missense_Mutation_p.G45E|CD1E_ENST00000368156.1_Missense_Mutation_p.G144E|CD1E_ENST00000368155.3_Missense_Mutation_p.G144E|CD1E_ENST00000368164.3_Missense_Mutation_p.G45E|CD1E_ENST00000368154.1_Missense_Mutation_p.G45E|CD1E_ENST00000368167.3_Missense_Mutation_p.G234E|CD1E_ENST00000452291.2_Missense_Mutation_p.G45E|CD1E_ENST00000368160.3_Missense_Mutation_p.G234E|CD1E_ENST00000368165.3_Missense_Mutation_p.G144E|CD1E_ENST00000368161.3_Missense_Mutation_p.G234E|CD1E_ENST00000434258.1_Missense_Mutation_p.G232E|CD1E_ENST00000368166.3_Missense_Mutation_p.G45E NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 234 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CATGTCTCAGGATTCTACCCA 0.592000 10 52 0 0 0.006214 0 0 CCR6 1235 broad.mit.edu 37 6 167550636 167550636 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:167550636C>T ENST00000341935.5 + 3 1470 c.918C>T c.(916-918)ttC>ttT p.F306F CCR6_ENST00000349984.4_Silent_p.F306F|CCR6_ENST00000400926.2_Silent_p.F306F NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 306 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) TCCTGGCTTTCCTGCACTGCT 0.473000 25 73 0 0 0.003954 0 0 PDHA2 5161 broad.mit.edu 37 4 96761623 96761623 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:96761623C>T ENST00000295266.4 + 1 385 c.322C>T c.(322-324)Ccc>Tcc p.P108S NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 108 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CGGCATAAACCCCTCGGATCA 0.527000 19 90 0 0 0.007413 0 0 PKHD1 5314 broad.mit.edu 37 6 51927330 51927330 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:51927330C>T ENST00000371117.3 - 14 1380 c.1105G>A c.(1105-1107)Gga>Aga p.G369R PKHD1_ENST00000340994.4_Missense_Mutation_p.G369R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 369 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.G369R(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AAAGGTTGTCCTTCCTGTGAC 0.493000 36 87 0 0 0.005524 0 0 APLP1 333 broad.mit.edu 37 19 36364555 36364555 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:36364555G>A ENST00000221891.4 + 8 1188 c.996G>A c.(994-996)tgG>tgA p.W332* APLP1_ENST00000586861.1_Nonsense_Mutation_p.W326*|APLP1_ENST00000537454.2_Nonsense_Mutation_p.W293* NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 332 Heparin-binding (By similarity). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCGTGAATGGGCCATGGCAG 0.562000 14 36 0 0 0.004990 0 0 SYNPO2 171024 broad.mit.edu 37 4 119947923 119947923 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:119947923C>T ENST00000307142.4 + 3 595 c.399C>T c.(397-399)ctC>ctT p.L133L SYNPO2_ENST00000429713.2_Silent_p.L133L|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.L133L NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 133 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AATTCTTCCTCGCCCCTGTCA 0.522000 11 44 0 0 0.000978 0 0 HHIPL2 79802 broad.mit.edu 37 1 222712077 222712077 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:222712077C>T ENST00000343410.6 - 5 1548 c.1490G>A c.(1489-1491)gGg>gAg p.G497E NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 497 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GACTGACTTCCCCACTGCATG 0.468000 39 174 0 0 0.007835 0 0 TAF6 6878 broad.mit.edu 37 7 99708829 99708829 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:99708829T>C ENST00000344095.4 - 10 1541 c.1016A>G c.(1015-1017)cAg>cGg p.Q339R TAF6_ENST00000437822.2_Missense_Mutation_p.Q376R|TAF6_ENST00000452041.1_Missense_Mutation_p.Q339R|TAF6_ENST00000472509.1_Missense_Mutation_p.Q396R|TAF6_ENST00000453269.2_Missense_Mutation_p.Q339R|TAF6_ENST00000418432.2_Missense_Mutation_p.Q263R NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 339 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTTGCAGATCTGGGCCACCAG 0.542000 100 40 0 0 0.003610 0 0 SDR42E1 93517 broad.mit.edu 37 16 82032955 82032955 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:82032955C>T ENST00000328945.5 - 3 1070 c.943G>A c.(943-945)Gaa>Aaa p.E315K NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 315 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 TTGTAAACTTCAGTGCGAGTG 0.448000 19 16 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179647757 179647757 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179647757G>A ENST00000589042.1 - 18 3100 c.2876C>T c.(2875-2877)tCt>tTt p.S959F TTN_ENST00000359218.5_Missense_Mutation_p.S913F|TTN_ENST00000342992.6_Missense_Mutation_p.S959F|TTN_ENST00000360870.5_Missense_Mutation_p.S959F|TTN_ENST00000460472.2_Missense_Mutation_p.S913F|TTN_ENST00000342175.6_Missense_Mutation_p.S913F|TTN_ENST00000591111.1_Missense_Mutation_p.S959F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 959 Ig-like 3. 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) CAAGGTGACAGATTCACCTTC 0.403000 19 44 0 0 0.007413 0 0 MYO18B 84700 broad.mit.edu 37 22 26219623 26219623 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:26219623C>T ENST00000335473.7 + 13 2923 c.2673C>T c.(2671-2673)ctC>ctT p.L891L MYO18B_ENST00000407587.2_Silent_p.L891L|MYO18B_ENST00000536101.1_Silent_p.L891L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 891 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GATGGGGCCTCGAGGATGAGG 0.592000 51 143 0 0 0.003610 0 0 CSRP2 1466 broad.mit.edu 37 12 77254062 77254062 + Splice_Site SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:77254062A>T ENST00000311083.5 - 4 535 c.e4+1 CSRP2_ENST00000552330.1_Splice_Site|CSRP2_ENST00000547435.1_Splice_Site|CSRP2_ENST00000546966.1_Splice_Site NM_001321.1 NP_001312.1 Q16527 CSRP2_HUMAN cysteine and glycine-rich protein 2 multicellular organismal development nucleus zinc ion binding kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1) 8 ATAGCACTTTACCTTTCCAGC 0.418000 18 22 0 0 0.006122 0 0 SMURF2 64750 broad.mit.edu 37 17 62568040 62568040 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:62568040G>A ENST00000262435.9 - 10 1079 c.892C>T c.(892-894)Cca>Tca p.P298S SMURF2_ENST00000578200.1_Intron NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 298 WW 3. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) GGAGGCAATGGACCAAGCTCT 0.418000 9 30 0 0 0.008291 0 0 CSMD3 114788 broad.mit.edu 37 8 113871469 113871469 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:113871469C>G ENST00000297405.5 - 11 1904 c.1660G>C c.(1660-1662)Gga>Cga p.G554R CSMD3_ENST00000455883.2_Missense_Mutation_p.G450R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G554R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G514R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 554 CUB 3. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCACTTGGTCCTTGAAGATTA 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 39 0 0 0.003163 0 0 GPR174 84636 broad.mit.edu 37 X 78427282 78427282 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:78427282G>A ENST00000276077.1 + 1 814 c.778G>A c.(778-780)Gaa>Aaa p.E260K NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 260 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 GAAGTCCAATGAAATTAAAAG 0.388000 HNSCC(63;0.18) 28 19 0 0 0.008361 0 0 KPRP 448834 broad.mit.edu 37 1 152733502 152733502 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:152733502C>T ENST00000368773.1 + 2 1496 c.1438C>T c.(1438-1440)Ccc>Tcc p.P480S KPRP_ENST00000606109.1_Missense_Mutation_p.P480S NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 480 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGAGCCAATTCCCCTGCCGGC 0.657000 41 77 0 0 0.007835 0 0 MTCH2 23788 broad.mit.edu 37 11 47653242 47653242 + Missense_Mutation SNP G G A rs146228351 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:47653242G>A ENST00000302503.3 - 6 548 c.391C>T c.(391-393)Cgt>Tgt p.R131C MTCH2_ENST00000542981.1_Intron NM_014342.3 NP_055157.1 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 131 transport integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 GCAGCAGAACGAGCGATCATC 0.423000 30 82 0 0 0.002836 0 0 UBBP4 23666 broad.mit.edu 37 17 21731137 21731137 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:21731137C>T ENST00000584755.1 + 2 836 c.439C>T c.(439-441)Ctg>Ttg p.L147L UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Silent_p.L147L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GCATCTGGTCCTGCGTCTGAG 0.557000 9 38 0 0 0.000978 0 0 FAM115C 285966 broad.mit.edu 37 7 143421817 143421817 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:143421817G>A ENST00000444908.2 + 7 2617 c.2532G>A c.(2530-2532)agG>agA p.R844R FAM115C_ENST00000409703.3_Intron|FAM115C_ENST00000441159.2_Intron|FAM115C_ENST00000411935.1_Intron|FAM115C_ENST00000357344.4_Silent_p.R844R|FAM115C_ENST00000411497.2_Silent_p.R563R|FAM115C_ENST00000425618.2_Silent_p.R563R NM_001130025.1 NP_001123497.1 A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 0 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 CTGGGAGAAGGGGATGACCAG 0.577000 73 61 0 0 0.003610 0 0 SELP 6403 broad.mit.edu 37 1 169565373 169565373 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:169565373C>T ENST00000263686.6 - 12 1929 c.e12-1 SELP_ENST00000458599.2_Splice_Site|SELP_ENST00000367786.2_Splice_Site|SELP_ENST00000367793.2_Splice_Site|SELP_ENST00000367788.2_Splice_Site|SELP_ENST00000367792.2_Splice_Site|SELP_ENST00000367794.2_Splice_Site|SELP_ENST00000367791.2_Splice_Site NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GATGCTATGCCTGTTGTGAGA 0.463000 49 64 0 0 0.003610 0 0 OR6X1 390260 broad.mit.edu 37 11 123624553 123624553 + Missense_Mutation SNP C C T rs140203672 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:123624553C>T ENST00000327930.2 - 1 700 c.674G>A c.(673-675)cGa>cAa p.R225Q NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGAAGGAATTCGTAGGATTGC 0.473000 10 53 0 0 0.008291 0 0 COL6A3 1293 broad.mit.edu 37 2 238303450 238303450 + Silent SNP C C T rs148970984 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:238303450C>T ENST00000295550.4 - 3 941 c.489G>A c.(487-489)gcG>gcA p.A163A COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Silent_p.A163A|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Silent_p.A163A|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 163 Nonhelical region.|VWFA 1. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACTTAAGTTCCGCTGAGGGCA 0.498000 24 42 0 0 0.002299 0 0 SLC6A2 6530 broad.mit.edu 37 16 55706064 55706064 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:55706064C>T ENST00000379906.2 + 3 876 c.621C>T c.(619-621)ttC>ttT p.F207F SLC6A2_ENST00000567238.1_Silent_p.F102F|SLC6A2_ENST00000568943.1_Silent_p.F207F|SLC6A2_ENST00000219833.8_Silent_p.F207F|SLC6A2_ENST00000566163.1_Silent_p.F207F|SLC6A2_ENST00000561820.1_Silent_p.F207F|SLC6A2_ENST00000414754.3_Silent_p.F207F NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 207 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) AGTACAAGTTCACGCCGGCAG 0.557000 15 22 0 0 0.004990 0 0 RGS5 8490 broad.mit.edu 37 1 163122481 163122481 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:163122481G>A ENST00000313961.5 - 4 520 c.243C>T c.(241-243)ttC>ttT p.F81F RGS5_ENST00000367903.3_Silent_p.F101F|RGS5_ENST00000527988.1_5'UTR|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000530507.1_Silent_p.F81F NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 81 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) CAGACTTCAGGAAACTTTTGA 0.398000 35 55 0 0 0.003755 0 0 NRP2 8828 broad.mit.edu 37 2 206562290 206562290 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:206562290G>A ENST00000360409.3 + 2 887 c.96G>A c.(94-96)ttG>ttA p.L32L NRP2_ENST00000357118.4_Silent_p.L32L|NRP2_ENST00000540178.1_Silent_p.L32L|NRP2_ENST00000540841.1_Silent_p.L32L|NRP2_ENST00000272849.3_Silent_p.L32L|NRP2_ENST00000357785.5_Silent_p.L32L|NRP2_ENST00000417189.1_Silent_p.L32L|NRP2_ENST00000355117.4_Silent_p.L32L|NRP2_ENST00000412873.2_Silent_p.L32L NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 32 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GAGGTCGTTTGAATTCCAAAG 0.517000 113 231 0 0 0.003610 0 0 DISP1 84976 broad.mit.edu 37 1 223178316 223178316 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:223178316G>A ENST00000284476.6 + 8 3741 c.3577G>A c.(3577-3579)Gaa>Aaa p.E1193K NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1193 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TGAGTTTTATGAATTAGAACC 0.443000 142 283 0 0 0.003610 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744059 70744059 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:70744059G>A ENST00000260126.3 - 2 1556 c.850C>T c.(850-852)Ctg>Ttg p.L284L SLCO5A1_ENST00000524945.1_Silent_p.L284L|SLCO5A1_ENST00000530307.1_Silent_p.L284L|SLCO5A1_ENST00000528658.1_5'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 284 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GTTGGTCCCAGGGTATAAATA 0.448000 21 54 0 0 0.008871 0 0 NELL1 4745 broad.mit.edu 37 11 20939733 20939733 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:20939733C>T ENST00000298925.5 + 7 846 c.693C>T c.(691-693)atC>atT p.I231I NELL1_ENST00000357134.5_Silent_p.I203I|NELL1_ENST00000325319.5_Silent_p.I146I|NELL1_ENST00000532434.1_Silent_p.I203I Q92832 NELL1_HUMAN NEL-like 1 (chicken) 203 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TCAAGGGGATCATCCAAGATG 0.378000 38 86 0 0 0.008740 0 0 TAAR8 83551 broad.mit.edu 37 6 132873961 132873961 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:132873961C>T ENST00000275200.1 + 1 130 c.130C>T c.(130-132)Ctg>Ttg p.L44L NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 44 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TGGGTCTTTGCTGGCTGTATT 0.448000 53 119 0 0 0.003610 0 0 APPL1 26060 broad.mit.edu 37 3 57271521 57271521 + Splice_Site SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:57271521A>T ENST00000288266.3 + 3 302 c.153_splice c.e3-1 p.N52_splice NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 52 Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) TTTCCATAGAATGAATTAAGT 0.229000 6 18 0 0 0.001984 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 46000140 46000140 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:46000140C>T ENST00000400372.1 - 1 341 c.316G>A c.(316-318)Gat>Aat p.D106N TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 106 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GAAGAGGAATCCTTAGAgcag 0.647000 29 63 0 0 0.005443 0 0 STAG3 10734 broad.mit.edu 37 7 99798111 99798111 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:99798111C>T ENST00000426455.1 + 18 2213 c.1806C>T c.(1804-1806)ctC>ctT p.L602L STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Silent_p.L544L|STAG3_ENST00000317296.5_Silent_p.L602L Q9UJ98 STAG3_HUMAN stromal antigen 3 602 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTCCCCTGCTCCAGCTTCTCA 0.542000 45 20 0 0 0.003610 0 0 PAH 5053 broad.mit.edu 37 12 103234185 103234185 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:103234185G>A ENST00000553106.1 - 12 1780 c.1308C>T c.(1306-1308)tcC>tcT p.S436S PAH_ENST00000307000.2_Silent_p.S431S NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 436 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TACTGTTAATGGAATCAGCCA 0.433000 17 25 0 0 0.006122 0 0 NOS3 4846 broad.mit.edu 37 7 150690932 150690932 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:150690932C>T ENST00000297494.3 + 2 398 c.41C>T c.(40-42)cCc>cTc p.P14L NOS3_ENST00000461406.1_Intron|NOS3_ENST00000467517.1_Missense_Mutation_p.P14L|NOS3_ENST00000484524.1_Missense_Mutation_p.P14L NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 14 anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCTGGGCCACCCTGCGGCCTG 0.692000 28 10 0 0 0.002836 0 0 CATSPERG 57828 broad.mit.edu 37 19 38858759 38858759 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:38858759A>T ENST00000409235.3 + 26 3117 c.3002A>T c.(3001-3003)cAc>cTc p.H1001L CATSPERG_ENST00000410018.1_Missense_Mutation_p.H961L|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 1001 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ATCATGTCCCACGAGAGCCCA 0.602000 25 76 0 0 0.005443 0 0 WARS 7453 broad.mit.edu 37 14 100820807 100820807 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:100820807G>A ENST00000355338.2 - 5 1137 c.519C>T c.(517-519)caC>caT p.H173H WARS_ENST00000557135.1_Silent_p.H173H|WARS_ENST00000344102.5_Silent_p.H132H|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000556645.1_Silent_p.H132H|WARS_ENST00000358655.4_Silent_p.H132H|WARS_ENST00000392882.2_Silent_p.H173H NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 173 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) ATGGAATGAGGTGACCTACAT 0.378000 27 41 0 0 0.007291 0 0 C1orf177 163747 broad.mit.edu 37 1 55282696 55282696 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:55282696G>A ENST00000358193.3 + 9 1139 c.1085G>A c.(1084-1086)tGg>tAg p.W362* C1orf177_ENST00000371273.3_Nonsense_Mutation_p.W362* NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 362 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 CTCAACACCTGGCTGATGGAG 0.577000 13 38 0 0 0.004007 0 0 NUP210L 91181 broad.mit.edu 37 1 153974357 153974357 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:153974357C>T ENST00000368559.3 - 36 5106 c.5035G>A c.(5035-5037)Gaa>Aaa p.E1679K NUP210L_ENST00000368553.1_Intron|NUP210L_ENST00000271854.3_Intron NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1679 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTGCTACGTTCACTGACCAGT 0.473000 31 51 0 0 0.008361 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481762 27481762 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:27481762T>C ENST00000233535.4 - 2 488 c.136A>G c.(136-138)Aaa>Gaa p.K46E SLC30A3_ENST00000447008.2_Missense_Mutation_p.K41E NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 46 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCACAGGTTTGGACTCCTCA 0.637000 17 30 0 0 0.006122 0 0 CFB 629 broad.mit.edu 37 6 31911491 31911491 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:31911491C>T ENST00000556679.1 + 10 1234 c.1179C>T c.(1177-1179)gtC>gtT p.V393V C2_ENST00000299367.5_Silent_p.V546V|CFB_ENST00000477310.1_Silent_p.V317V|CFB_ENST00000456570.1_Silent_p.V393V|C2_ENST00000469372.1_Silent_p.V300V|C2_ENST00000468407.1_3'UTR|C2_ENST00000442278.2_Silent_p.V414V|C2_ENST00000452323.2_Silent_p.V332V P00751 CFAB_HUMAN complement factor B 561 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GGTTTGATGTCTTTGCCAAAA 0.493000 149 309 0 0 0.003610 0 0 S100A9 6280 broad.mit.edu 37 1 153333238 153333238 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:153333238C>T ENST00000368738.3 + 3 312 c.269C>T c.(268-270)tCc>tTc p.S90F NM_002965.3 NP_002956.1 P06702 S10A9_HUMAN S100 calcium binding protein A9 90 cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) ACCTGGGCCTCCCACGAGAAG 0.582000 13 22 0 0 0.001855 0 0 C6orf118 168090 broad.mit.edu 37 6 165715547 165715547 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:165715547C>T ENST00000230301.8 - 2 284 c.264G>A c.(262-264)ggG>ggA p.G88G C6orf118_ENST00000543069.1_5'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 88 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) AGGCGCGCTCCCCCTTGGGCC 0.647000 33 45 0 0 0.003271 0 0 COL4A1 1282 broad.mit.edu 37 13 110838746 110838746 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:110838746G>A ENST00000375820.4 - 26 2004 c.1883C>T c.(1882-1884)tCc>tTc p.S628F NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 628 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAGGCCTGGGGATCCAGGGCC 0.622000 66 115 0 0 0.003610 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900427 151900427 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:151900427C>T ENST00000393900.3 - 3 727 c.374G>A c.(373-375)cGa>cAa p.R125Q MAGEA12_ENST00000393869.3_Missense_Mutation_p.R125Q|MAGEA12_ENST00000357916.4_Missense_Mutation_p.R125Q|CSAG4_ENST00000361201.4_RNA NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 125 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CTCCCTGGCTCGATACTTGAG 0.502000 39 21 0 0 0.009718 0 0 OR10A4 283297 broad.mit.edu 37 11 6898760 6898760 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:6898760G>A ENST00000379829.2 + 1 905 c.882G>A c.(880-882)agG>agA p.R294R NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACAGCTCAAGGAATAAAGAAG 0.493000 32 77 0 0 0.003755 0 0 TMC2 117532 broad.mit.edu 37 20 2582822 2582822 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:2582822C>T ENST00000358864.1 + 11 1303 c.1288C>T c.(1288-1290)Cgt>Tgt p.R430C TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 430 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AAGATTTCTTCGTGTCCTGGC 0.388000 7 33 0 0 0.001984 0 0 DCC 1630 broad.mit.edu 37 18 50936947 50936947 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:50936947C>T ENST00000442544.2 + 20 3677 c.3061C>T c.(3061-3063)Cga>Tga p.R1021* DCC_ENST00000581580.1_Nonsense_Mutation_p.R656*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R849* NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1021 Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GTATTACTTTCGAATTCAAGC 0.378000 25 43 0 0 0.003330 0 0 USP37 57695 broad.mit.edu 37 2 219341665 219341665 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:219341665G>A ENST00000258399.3 - 19 2353 c.1941C>T c.(1939-1941)tgC>tgT p.C647C USP37_ENST00000454775.1_Silent_p.C647C|USP37_ENST00000475553.1_Intron|USP37_ENST00000418019.1_Silent_p.C647C|USP37_ENST00000415516.1_Silent_p.C553C NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 647 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) CTGAATCAAGGCATAAAGCCA 0.393000 15 36 0 0 0.004007 0 0 MACC1 346389 broad.mit.edu 37 7 20197884 20197884 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:20197884T>G ENST00000400331.5 - 5 2408 c.2100A>C c.(2098-2100)ttA>ttC p.L700F MACC1_ENST00000332878.4_Missense_Mutation_p.L700F|MACC1_ENST00000589011.1_Missense_Mutation_p.L700F NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 700 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 AATCTTCCTTTAACTTCTTTA 0.363000 22 42 0 0 0.010504 0 0 PENK 5179 broad.mit.edu 37 8 57354068 57354068 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:57354068G>A ENST00000314922.3 - 2 643 c.567C>T c.(565-567)ttC>ttT p.F189F PENK_ENST00000451791.2_Silent_p.F189F|PENK_ENST00000523274.1_5'UTR NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 189 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) AGCCTCTCATGAAGCCCCCAT 0.517000 70 122 0 0 0.003610 0 0 OR2L3 391192 broad.mit.edu 37 1 248224630 248224630 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:248224630C>T ENST00000359959.3 + 1 647 c.647C>T c.(646-648)tCc>tTc p.S216F OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATTTCATGTTCCTATGGCCGG 0.502000 35 67 0 0 0.004878 0 0 PLEC 5339 broad.mit.edu 37 8 144994643 144994643 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:144994643G>A ENST00000322810.4 - 32 9926 c.9757C>T c.(9757-9759)Ctg>Ttg p.L3253L PLEC_ENST00000345136.3_Silent_p.L3116L|PLEC_ENST00000356346.3_Silent_p.L3102L|PLEC_ENST00000527096.1_Silent_p.L3139L|PLEC_ENST00000436759.2_Silent_p.L3143L|PLEC_ENST00000357649.2_Silent_p.L3120L|PLEC_ENST00000398774.2_Silent_p.L3084L|PLEC_ENST00000354958.2_Silent_p.L3094L|PLEC_ENST00000354589.3_Silent_p.L3116L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3253 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCTGGAACAGGGAGACGCTC 0.657000 14 22 0 0 0.004007 0 0 OR4A5 81318 broad.mit.edu 37 11 51411590 51411590 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:51411590G>A ENST00000319760.6 - 1 858 c.806C>T c.(805-807)aCt>aTt p.T269I NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) ATAAAACACAGTCATGAACTT 0.363000 9 23 0 0 0.008291 0 0 PLG 5340 broad.mit.edu 37 6 161152223 161152223 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:161152223C>T ENST00000308192.9 + 11 1460 c.1397C>T c.(1396-1398)cCt>cTt p.P466L NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 466 Cleavage; by stromelysin-19. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GCACCTCCGCCTGTTGTCCTG 0.512000 22 45 0 0 0.002299 0 0 MRPL46 26589 broad.mit.edu 37 15 89008035 89008035 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:89008035T>C ENST00000312475.4 - 3 529 c.488A>G c.(487-489)gAg>gGg p.E163G MRPL46_ENST00000559538.1_5'UTR NM_022163.3 NP_071446.2 Q9H2W6 RM46_HUMAN mitochondrial ribosomal protein L46 163 mitochondrion|ribosome hydrolase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) TCCAAACTTCTCTCTGACTAA 0.527000 22 194 0 0 0.002299 0 0 KANK4 163782 broad.mit.edu 37 1 62740610 62740610 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:62740610G>A ENST00000371153.4 - 3 544 c.166C>T c.(166-168)Cct>Tct p.P56S KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 56 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CTGTGGATAGGAATTCTTTTG 0.532000 55 132 0 0 0.003610 0 0 C1QTNF6 114904 broad.mit.edu 37 22 37581438 37581438 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:37581438G>A ENST00000337843.2 - 2 184 c.109C>T c.(109-111)Ctg>Ttg p.L37L C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Silent_p.L37L NM_031910.3 NP_114116.3 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 18 collagen breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1) 11 TCACACATCAGGAGAAAGAGC 0.597000 9 48 0 0 0.008291 0 0 FAM181A 90050 broad.mit.edu 37 14 94395482 94395482 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:94395482C>T ENST00000267594.5 + 3 1344 c.1037C>T c.(1036-1038)cCc>cTc p.P346L FAM181A_ENST00000557719.1_Missense_Mutation_p.P284L|FAM181A_ENST00000557000.2_Missense_Mutation_p.P284L|FAM181A_ENST00000556222.1_Missense_Mutation_p.P284L NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 346 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GTGCCCCCACCCATCTTCAAT 0.662000 17 46 0 0 0.004990 0 0 ELF5 2001 broad.mit.edu 37 11 34502374 34502374 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:34502374C>T ENST00000312319.2 - 6 875 c.646G>A c.(646-648)Gga>Aga p.G216R ELF5_ENST00000429939.2_Missense_Mutation_p.G111R|ELF5_ENST00000257832.2_Missense_Mutation_p.G206R NM_001243081.1|NM_198381.1 NP_001230010.1|NP_938195.1 Q9UKW6 ELF5_HUMAN E74-like factor 5 (ets domain transcription factor) 216 cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) TTCCTTTGTCCCCACATCTTT 0.408000 14 51 0 0 0.004007 0 0 AQP10 89872 broad.mit.edu 37 1 154295498 154295498 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:154295498C>T ENST00000484864.1 + 3 309 c.273C>T c.(271-273)atC>atT p.I91I AQP10_ENST00000324978.3_Silent_p.I91I|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 91 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCATGTGCATCGTTGGACGCC 0.522000 16 80 0 0 0.006122 0 0 CABIN1 23523 broad.mit.edu 37 22 24560498 24560498 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:24560498C>T ENST00000398319.2 + 30 5262 c.4877C>T c.(4876-4878)tCc>tTc p.S1626F CABIN1_ENST00000405822.2_Missense_Mutation_p.S1547F|CABIN1_ENST00000337989.7_Missense_Mutation_p.S51F|CABIN1_ENST00000263119.5_Missense_Mutation_p.S1626F NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1626 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CTGAAGGTGTCCTCCATGCTT 0.652000 24 26 0 0 0.003330 0 0 SNHG14 104472715 broad.mit.edu 37 15 25456921 25456921 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:25456921G>A ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TGTATGTGTGGGCAGGGGGGG 0.552000 22 81 0 0 0.002299 0 0 DNAH7 56171 broad.mit.edu 37 2 196738347 196738347 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:196738347C>T ENST00000312428.6 - 39 6458 c.6358G>A c.(6358-6360)Gat>Aat p.D2120N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2120 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATGGATTTATCACTAAACTCA 0.274000 18 48 0 0 0.007413 0 0 KALRN 8997 broad.mit.edu 37 3 124053225 124053225 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:124053225G>A ENST00000360013.3 + 9 1651 c.1524G>A c.(1522-1524)ctG>ctA p.L508L KALRN_ENST00000240874.3_Silent_p.L508L|KALRN_ENST00000460856.1_Silent_p.L508L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 508 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ACCAGGTGCTGGACGTGGTGC 0.627000 50 71 0 0 0.003610 0 0 HTR1F 3355 broad.mit.edu 37 3 88040349 88040349 + Silent SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:88040349A>T ENST00000319595.4 + 1 504 c.450A>T c.(448-450)atA>atT p.I150I NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 150 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TTTGGATTATATCTGTTTTTA 0.418000 10 26 0 0 0.008291 0 0 SDC1 6382 broad.mit.edu 37 2 20403772 20403772 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:20403772G>A ENST00000381150.1 - 4 819 c.429C>T c.(427-429)acC>acT p.T143T SDC1_ENST00000254351.4_Silent_p.T143T|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.T143T NM_001006946.1 NP_001006947.1 P18827 SDC1_HUMAN syndecan 1 143 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CCTGGGCCGTGGTGGCTGTGG 0.687000 30 84 0 0 0.003271 0 0 NEB 4703 broad.mit.edu 37 2 152404006 152404006 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:152404006C>T ENST00000427231.2 - 133 20506 c.20304G>A c.(20302-20304)atG>atA p.M6768I NEB_ENST00000603639.1_Missense_Mutation_p.M6768I|NEB_ENST00000604864.1_Missense_Mutation_p.M6768I|NEB_ENST00000172853.10_Missense_Mutation_p.M5067I|NEB_ENST00000397345.3_Missense_Mutation_p.M6768I|NEB_ENST00000409198.1_Missense_Mutation_p.M5067I NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5067 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCAGAGAGATCATGTGGCCCT 0.413000 4 13 0 0 0.009096 0 0 GIGYF2 26058 broad.mit.edu 37 2 233677177 233677177 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:233677177C>T ENST00000373566.3 + 19 2346 c.2149C>T c.(2149-2151)Cag>Tag p.Q717* GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q717*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q695*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q689*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q716*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.Q526*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q695* Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 695 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) CTGGGAGCTTCAGCCAACAGC 0.378000 10 31 0 0 0.001855 0 0 WDR36 134430 broad.mit.edu 37 5 110439611 110439611 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:110439611C>T ENST00000506538.2 + 7 1465 c.892C>T c.(892-894)Cgc>Tgc p.R298C WDR36_ENST00000505303.1_Missense_Mutation_p.R242C|WDR36_ENST00000513710.2_Missense_Mutation_p.R298C NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 298 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) AATTTCATTTCGCACAGGTAA 0.299000 15 52 0 0 0.004990 0 0 UGT2A3 79799 broad.mit.edu 37 4 69796941 69796941 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:69796941C>T ENST00000251566.4 - 4 1046 c.1016G>A c.(1015-1017)gGa>gAa p.G339E UGT2A3_ENST00000420231.2_Missense_Mutation_p.G50E NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 339 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGGTTTTTTTCCTTTGTACCT 0.358000 8 26 0 0 0.006214 0 0 SLC36A1 206358 broad.mit.edu 37 5 150867572 150867572 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:150867572G>A ENST00000243389.3 + 11 1411 c.1188G>A c.(1186-1188)ctG>ctA p.L396L SLC36A1_ENST00000520701.1_Silent_p.L396L NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 396 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TCCCCCGCCTGGACCTGGTCA 0.612000 23 40 0 0 0.003954 0 0 GPR98 84059 broad.mit.edu 37 5 89924421 89924421 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:89924421G>A ENST00000405460.2 + 8 1377 c.1281G>A c.(1279-1281)ggG>ggA p.G427G NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 427 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) GAACCCATGGGAATGTCTCTG 0.403000 21 44 0 0 0.001882 0 0 TTC21B 79809 broad.mit.edu 37 2 166786230 166786230 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:166786230C>T ENST00000243344.7 - 10 1252 c.1115G>A c.(1114-1116)gGg>gAg p.G372E NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 372 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 CTGTAATTGCCCTTCTATCAA 0.373000 8 39 0 0 0.008291 0 0 DMXL2 23312 broad.mit.edu 37 15 51795182 51795182 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:51795182C>A ENST00000251076.5 - 17 3100 c.2813G>T c.(2812-2814)gGa>gTa p.G938V DMXL2_ENST00000543779.2_Missense_Mutation_p.G938V|DMXL2_ENST00000449909.3_Intron NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 938 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) GTTCTTCTGTCCAGGGACTGA 0.363000 10 63 6.40141e-05 7.36174e-05 0.000978 1 0 ATP2A2 488 broad.mit.edu 37 12 110781220 110781220 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:110781220C>T ENST00000395494.2 + 15 2984 c.2421C>T c.(2419-2421)ttC>ttT p.F807F ATP2A2_ENST00000308664.6_Silent_p.F834F|ATP2A2_ENST00000539276.2_Silent_p.F834F P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 834 Interacts with phospholamban 2 (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GGCTCTTTTTCCGTTACTTGG 0.413000 30 35 0 0 0.009535 0 0 RABGAP1 23637 broad.mit.edu 37 9 125852081 125852081 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:125852081C>T ENST00000373647.4 + 20 2603 c.2469C>T c.(2467-2469)acC>acT p.T823T RABGAP1_ENST00000373643.5_Silent_p.T162T NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 823 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AATATCACACCATGAGGGAAC 0.413000 3 3 0 0 0.000602 0 0 MAN2C1 4123 broad.mit.edu 37 15 75652466 75652466 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:75652466G>T ENST00000565683.1 - 14 1682 c.1671C>A c.(1669-1671)ttC>ttA p.F557L MAN2C1_ENST00000569482.1_Missense_Mutation_p.F557L|MAN2C1_ENST00000563622.1_Missense_Mutation_p.F458L|MAN2C1_ENST00000267978.5_Missense_Mutation_p.F557L NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 557 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CTGGGTATAGGAACTGGGCAC 0.627000 41 213 2.77807e-22 3.22356e-22 0.003214 1 0 SPOCD1 90853 broad.mit.edu 37 1 32264057 32264057 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:32264057C>T ENST00000360482.2 - 8 2143 c.2014G>A c.(2014-2016)Gac>Aac p.D672N SPOCD1_ENST00000533231.1_Missense_Mutation_p.D672N|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.D165N NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 672 TFIIS central. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TTCCTGGGGTCCCGCAGGTTG 0.622000 25 39 0 0 0.005443 0 0 OR2T34 127068 broad.mit.edu 37 1 248737121 248737121 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:248737121C>T ENST00000328782.2 - 1 959 c.938G>A c.(937-939)aGa>aAa p.R313K NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGGTTCATTCTTGACTGCAT 0.478000 17 31 0 0 0.007413 0 0 HRH1 3269 broad.mit.edu 37 3 11301359 11301359 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:11301359G>A ENST00000397056.1 + 3 827 c.636G>A c.(634-636)aaG>aaA p.K212K HRH1_ENST00000438284.2_Silent_p.K212K|HRH1_ENST00000431010.2_Silent_p.K212K NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 212 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TCTATGCCAAGATCTACAAGG 0.512000 49 98 0 0 0.003610 0 0 MYBPC2 4606 broad.mit.edu 37 19 50967675 50967675 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:50967675G>A ENST00000357701.5 + 27 3352 c.3301G>A c.(3301-3303)Gga>Aga p.G1101R NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 1101 Ig-like C2-type 7. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CAATTACCAAGGAGTCCTGAC 0.577000 3 16 0 0 0.009096 0 0 OR2W3 343171 broad.mit.edu 37 1 248058951 248058951 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:248058951C>T ENST00000537741.1 + 3 320 c.63C>T c.(61-63)ccC>ccT p.P21P OR2W3_ENST00000360358.3_Silent_p.P21P Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P21P(1) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTGACCGACCCCATCTGGAGA 0.527000 7 48 0 0 0.003080 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691147 18691147 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:18691147G>A ENST00000433979.1 + 24 3374 c.3258G>A c.(3256-3258)ggG>ggA p.G1086G PIK3C2G_ENST00000538779.1_Silent_p.G1127G|PIK3C2G_ENST00000266497.5_Silent_p.G1086G NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1086 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CAGAGGGTGGGAAAAACCCAC 0.398000 22 57 0 0 0.002299 0 0 TNFAIP8L2 79626 broad.mit.edu 37 1 151131232 151131232 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:151131232A>C ENST00000368910.3 + 2 185 c.59A>C c.(58-60)aAg>aCg p.K20T NM_024575.4 NP_078851.2 Q6P589 TP8L2_HUMAN tumor necrosis factor, alpha-induced protein 8-like 2 20 innate immune response lung(1)|skin(2) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTACTGAGTAAGATGGCGGGT 0.532000 14 31 0 0 0.003163 0 0 SORCS3 22986 broad.mit.edu 37 10 107022146 107022146 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:107022146G>A ENST00000369701.3 + 26 3728 c.3501G>A c.(3499-3501)atG>atA p.M1167I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1167 integral to membrane neuropeptide receptor activity p.M1167I(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGCAGGAGATGATTGGGTCAG 0.498000 14 22 0 0 0.002450 0 0 LILRB4 11006 broad.mit.edu 37 19 55178186 55178186 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:55178186G>A ENST00000391736.1 + 12 1342 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K LILRB4_ENST00000430952.2_Missense_Mutation_p.E343K|LILRB4_ENST00000391734.3_Missense_Mutation_p.E343K|LILRB4_ENST00000391733.3_Missense_Mutation_p.E344K|LILRB4_ENST00000270452.2_Missense_Mutation_p.E343K NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 343 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GGACGGGGTGGAAATGGACAC 0.617000 18 53 0 0 0.002299 0 0 SOGA2 23255 broad.mit.edu 37 18 8824715 8824715 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:8824715C>T ENST00000359865.3 + 15 3349 c.3207C>T c.(3205-3207)tcC>tcT p.S1069S SOGA2_ENST00000400050.3_Silent_p.S1028S|SOGA2_ENST00000517570.1_Silent_p.S1028S|SOGA2_ENST00000306329.11_Silent_p.S1388S|SOGA2_ENST00000306285.7_Silent_p.S394S|SOGA2_ENST00000518815.1_Silent_p.S394S NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1379 CCGTGTCCTCCATGTCTGAGT 0.597000 11 10 0 0 0.000978 0 0 WDR96 80217 broad.mit.edu 37 10 105920862 105920862 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:105920862C>T ENST00000357060.3 - 27 3588 c.3473G>A c.(3472-3474)aGa>aAa p.R1158K WDR96_ENST00000428666.1_Missense_Mutation_p.R1159K NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1158 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GAATTGTTTTCTTTCTTCTTC 0.328000 17 12 0 0 0.004990 0 0 SCEL 8796 broad.mit.edu 37 13 78178501 78178501 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:78178501C>T ENST00000377246.3 + 18 1133 c.1048C>T c.(1048-1050)Ctt>Ttt p.L350F SCEL_ENST00000535157.1_Intron|SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000456280.2_RNA|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000349847.3_Missense_Mutation_p.L370F NM_003843.3 NP_003834.3 O95171 SCEL_HUMAN sciellin 370 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) AAAAAAAGACCTTGATGGGCT 0.323000 31 73 0 0 0.002096 0 0 CDCP1 64866 broad.mit.edu 37 3 45127251 45127251 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:45127251G>A ENST00000296129.1 - 9 2524 c.2390C>T c.(2389-2391)tCc>tTc p.S797F NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 797 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CTCAGGAGGGGAGCGAGGAGG 0.587000 28 52 0 0 0.007291 0 0 FRMD5 84978 broad.mit.edu 37 15 44181070 44181070 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:44181070C>T ENST00000417257.1 - 9 905 c.728_splice c.e9-1 p.W243_splice FRMD5_ENST00000484674.1_Splice_Site_p.W154_splice|FRMD5_ENST00000402883.1_Splice_Site_p.W243_splice NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 243 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TCACCTCATTCCTAGAAGCAC 0.483000 17 22 0 0 0.006122 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247329 142247329 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:142247329C>T ENST00000390361.3 - 0 176 GAAATTGGATCACACCTGAGC 0.517000 7 94 0 0 0.004007 0 0 IYD 389434 broad.mit.edu 37 6 150719329 150719329 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:150719329G>A ENST00000344419.3 + 5 966 c.826G>A c.(826-828)Gac>Aac p.D276N IYD_ENST00000229447.5_3'UTR NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 276 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) CACGGTGCCTGACCTCAAGCG 0.652000 30 53 0 0 0.002445 0 0 POLR2F 5435 broad.mit.edu 37 22 38355370 38355370 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:38355370C>T ENST00000488684.1 + 3 256 c.167C>T c.(166-168)tCg>tTg p.S56L POLR2F_ENST00000442738.2_Silent_p.V36V|POLR2F_ENST00000606538.1_Silent_p.V36V|POLR2F_ENST00000407936.1_Silent_p.V36V|POLR2F_ENST00000405557.1_Silent_p.V36V|POLR2F_ENST00000484894.1_3'UTR|POLR2F_ENST00000470701.1_Silent_p.V31V|POLR2F_ENST00000460648.1_Intron P61218 RPAB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide F 61 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1)|urinary_tract(2) 3 Melanoma(58;0.045) AGGAGAATGTCGAGATCCTCC 0.547000 92 169 0 0 0.003610 0 0 ME2 4200 broad.mit.edu 37 18 48434450 48434450 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:48434450A>G ENST00000321341.5 + 3 398 c.126A>G c.(124-126)ttA>ttG p.L42L ME2_ENST00000382927.3_Silent_p.L42L NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 42 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) CATTTACTTTACAAGAACGAC 0.323000 7 43 0 0 0.003080 0 0 CUX1 1523 broad.mit.edu 37 7 101844696 101844696 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:101844696C>T ENST00000360264.3 + 18 2172 c.2152C>T c.(2152-2154)Cgc>Tgc p.R718C CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.R685C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R605C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R549C|CUX1_ENST00000292535.7_Missense_Mutation_p.R707C|CUX1_ENST00000550008.2_Missense_Mutation_p.R651C NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 707 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TGACGCCATCCGCTCCATCCT 0.657000 111 33 0 0 0.003610 0 0 PCDH19 57526 broad.mit.edu 37 X 99551530 99551530 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:99551530A>G ENST00000373034.4 - 6 4867 c.3192T>C c.(3190-3192)ccT>ccC p.P1064P PCDH19_ENST00000420881.2_Silent_p.P1016P|PCDH19_ENST00000255531.7_Silent_p.P1017P NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 1064 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GGGAGGTGACAGGGCTAATCG 0.597000 11 7 0 0 0.008291 0 0 STARD6 147323 broad.mit.edu 37 18 51858177 51858177 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:51858177G>A ENST00000581310.1 - 7 693 c.320C>T c.(319-321)tCc>tTc p.S107F STARD6_ENST00000307844.3_Missense_Mutation_p.S107F|STARD6_ENST00000580990.2_Silent_p.F14F P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 107 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) GTCTCGAGGGGAAATGGAGCC 0.363000 13 31 0 0 0.003163 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716748 39716748 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:39716748G>A ENST00000553728.1 + 4 1183 c.970G>A c.(970-972)Gat>Aat p.D324N MIA2_ENST00000556784.1_Missense_Mutation_p.D323N|MIA2_ENST00000280082.3_Missense_Mutation_p.D324N TGGAGATGAGGATACAGGGCT 0.408000 15 47 0 0 0.004990 0 0 ASNS 440 broad.mit.edu 37 7 97482446 97482446 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:97482446C>T ENST00000175506.4 - 13 1930 c.1402G>A c.(1402-1404)Gaa>Aaa p.E468K ASNS_ENST00000394308.3_Missense_Mutation_p.E468K|ASNS_ENST00000444334.1_Missense_Mutation_p.E447K|ASNS_ENST00000422745.1_Missense_Mutation_p.E447K|ASNS_ENST00000437628.1_Missense_Mutation_p.E385K|ASNS_ENST00000455086.1_Missense_Mutation_p.E385K|ASNS_ENST00000394309.3_Missense_Mutation_p.E468K NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 468 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTGAAGGCTTCTTTTGGTCGC 0.368000 36 40 0 0 0.002836 0 0 FCRL5 83416 broad.mit.edu 37 1 157490868 157490868 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:157490868G>A ENST00000361835.3 - 11 2611 c.2454C>T c.(2452-2454)tcC>tcT p.S818S FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.S818S NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 818 Ig-like C2-type 8. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CGGCCTCACAGGAGTAGTTTC 0.542000 15 70 0 0 0.004007 0 0 PSG7 5676 broad.mit.edu 37 19 43430737 43430737 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:43430737G>A ENST00000446844.3 - 0 930 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GGACTGACCGGGAGGCTCTGA 0.468000 118 272 0 0 0.003610 0 0 DTX3L 151636 broad.mit.edu 37 3 122290533 122290533 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:122290533A>C ENST00000296161.4 + 5 2351 c.2162A>C c.(2161-2163)tAt>tCt p.Y721S DTX3L_ENST00000383661.3_Missense_Mutation_p.Y209S NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 721 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) AGGTATGGCTATCCTGATCCT 0.363000 5 28 0 0 0.000602 0 0 KRT16 3868 broad.mit.edu 37 17 39767899 39767899 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:39767899G>A ENST00000301653.4 - 2 670 c.606C>T c.(604-606)ttC>ttT p.F202F NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 202 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) ACTTGGTCCTGAAGTCATCGG 0.622000 6 17 0 0 0.001984 0 0 SPOCK3 50859 broad.mit.edu 37 4 167658649 167658649 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:167658649C>T ENST00000357154.3 - 11 1247 c.1110G>A c.(1108-1110)atG>atA p.M370I SPOCK3_ENST00000511531.1_Missense_Mutation_p.M370I|SPOCK3_ENST00000502330.1_Missense_Mutation_p.M370I|SPOCK3_ENST00000511269.1_Missense_Mutation_p.M367I|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_Missense_Mutation_p.M250I|SPOCK3_ENST00000357545.4_Missense_Mutation_p.M367I|SPOCK3_ENST00000535728.1_Missense_Mutation_p.M238I|SPOCK3_ENST00000534949.1_Missense_Mutation_p.M274I|SPOCK3_ENST00000510741.1_Missense_Mutation_p.M327I|SPOCK3_ENST00000421836.2_Missense_Mutation_p.M319I|SPOCK3_ENST00000504953.1_Missense_Mutation_p.M367I|SPOCK3_ENST00000541637.1_Missense_Mutation_p.M272I|SPOCK3_ENST00000512681.1_Missense_Mutation_p.M272I|SPOCK3_ENST00000506886.1_Missense_Mutation_p.M370I NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 370 Thyroglobulin type-1. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TTCTGGATCCCATGACTTCAT 0.403000 26 84 0 0 0.008361 0 0 PCDHA3 56145 broad.mit.edu 37 5 140183094 140183094 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140183094C>T ENST00000522353.2 + 1 2312 c.2312C>T c.(2311-2313)gCt>gTt p.A771V PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A771V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCTCATGGCTTTTAGCCCT 0.542000 34 60 0 0 0.003755 0 0 AMER2 219287 broad.mit.edu 37 13 25744419 25744419 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:25744419C>T ENST00000357816.2 - 3 1457 c.982G>A c.(982-984)Gag>Aag p.E328K AMER2_ENST00000515384.1_Missense_Mutation_p.E447K|AMER2_ENST00000381853.3_Missense_Mutation_p.E328K APC membrane recruitment protein 2 CCCTGCTCCTCGGTCTGGGAG 0.657000 10 14 0 0 0.006214 0 0 CCDC147 159686 broad.mit.edu 37 10 106130806 106130806 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:106130806G>A ENST00000369704.3 + 7 1218 c.1084G>A c.(1084-1086)Gag>Aag p.E362K CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 362 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) TGTGGGATTAGAGAGAGGTAA 0.373000 7 10 0 0 0.003080 0 0 DMPK 1760 broad.mit.edu 37 19 46282606 46282606 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:46282606G>A ENST00000600757.1 - 3 1065 c.378C>T c.(376-378)ttC>ttT p.F126F DMPK_ENST00000343373.4_Silent_p.F126F|DMPK_ENST00000354227.5_Silent_p.F116F|DMPK_ENST00000291270.4_Silent_p.F116F|DMPK_ENST00000447742.2_Silent_p.F116F|DMPK_ENST00000458663.2_Silent_p.F116F Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 126 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) TCTCCTCACGGAAGCACGACA 0.687000 42 66 0 0 0.002522 0 0 KALRN 8997 broad.mit.edu 37 3 124281768 124281768 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:124281768G>A ENST00000360013.3 + 34 5135 c.5008G>A c.(5008-5010)Ggg>Agg p.G1670R KALRN_ENST00000393496.1_Missense_Mutation_p.G43R NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1670 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CATCCAGGTGGGGCAGACGGT 0.657000 11 18 0 0 0.000978 0 0 UBR5 51366 broad.mit.edu 37 8 103372302 103372302 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:103372302A>G ENST00000520539.1 - 5 989 c.383T>C c.(382-384)tTa>tCa p.L128S UBR5_ENST00000521922.1_Missense_Mutation_p.L128S|UBR5_ENST00000220959.4_Missense_Mutation_p.L128S NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 128 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AACTTACCCTAAGGTGTTGCC 0.507000 14 39 0 0 0.002450 0 0 CEP68 23177 broad.mit.edu 37 2 65296886 65296886 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:65296886C>T ENST00000377990.2 + 2 511 c.308C>T c.(307-309)cCt>cTt p.P103L CEP68_ENST00000546106.1_Missense_Mutation_p.P103L|CEP68_ENST00000260569.4_Missense_Mutation_p.P103L|CEP68_ENST00000537589.1_Intron NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 103 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 AGTGGCCTGCCTCCTGCCACC 0.607000 39 69 0 0 0.004878 0 0 FAM184A 79632 broad.mit.edu 37 6 119341252 119341252 + Missense_Mutation SNP G G A rs141308759 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:119341252G>A ENST00000338891.7 - 4 1666 c.1223C>T c.(1222-1224)tCg>tTg p.S408L FAM184A_ENST00000521531.1_Missense_Mutation_p.S408L|FAM184A_ENST00000522284.1_Missense_Mutation_p.S288L|FAM184A_ENST00000368475.4_Missense_Mutation_p.S288L|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.S288L NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 408 p.S408L(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 ATTGACTCTCGATTTTTCTGA 0.373000 22 39 0 0 0.002299 0 0 ELFN2 114794 broad.mit.edu 37 22 37770941 37770941 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:37770941G>A ENST00000402918.1 - 3 1419 c.634C>T c.(634-636)Cgc>Tgc p.R212C RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.R212C NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 212 LRRCT. cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CACTGCAGGCGGTCGTAGTTC 0.637000 8 25 0 0 0.003080 0 0 ANO3 63982 broad.mit.edu 37 11 26655777 26655777 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:26655777G>A ENST00000256737.3 + 19 2752 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K ANO3_ENST00000525139.1_Missense_Mutation_p.E618K|ANO3_ENST00000531568.1_Missense_Mutation_p.E488K|ANO3_ENST00000537978.1_Missense_Mutation_p.E618K NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 634 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 ATCAGAGTGGGAAAACAGCTT 0.413000 6 33 0 0 0.003080 0 0 PPM1M 132160 broad.mit.edu 37 3 52283764 52283764 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:52283764C>T ENST00000323588.4 + 10 1196 c.831C>T c.(829-831)tcC>tcT p.S277S PPM1M_ENST00000296487.4_3'UTR|PPM1M_ENST00000457351.2_Silent_p.S438S|PPM1M_ENST00000409502.3_Silent_p.S226S Q96MI6 PPM1M_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1M 0 protein dephosphorylation nucleus CTD phosphatase activity|manganese ion binding prostate(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194) GGCAGGTGTCCTACGATGACG 0.522000 15 17 0 0 0.004007 0 0 SIM2 6493 broad.mit.edu 37 21 38095401 38095401 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:38095401G>A ENST00000290399.6 + 5 1126 c.513G>A c.(511-513)agG>agA p.R171R SIM2_ENST00000430056.3_Silent_p.R171R NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 171 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 TGGCGAAAAGGAACGCGGGCC 0.542000 38 90 0 0 0.007835 0 0 TCP11 6954 broad.mit.edu 37 6 35089948 35089948 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:35089948C>T ENST00000311875.5 - 5 980 c.563G>A c.(562-564)cGa>cAa p.R188Q TCP11_ENST00000512012.1_Missense_Mutation_p.R175Q|TCP11_ENST00000244645.3_Missense_Mutation_p.R113Q|TCP11_ENST00000444780.2_Missense_Mutation_p.R183Q|TCP11_ENST00000418521.2_Missense_Mutation_p.R112Q|TCP11_ENST00000412155.2_Missense_Mutation_p.R137Q|TCP11_ENST00000373974.4_Missense_Mutation_p.R142Q|TCP11_ENST00000373979.2_Missense_Mutation_p.R113Q Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 175 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 TGCTTCATCTCGAACTGGTGC 0.478000 20 72 0 0 0.010504 0 0 MUC16 94025 broad.mit.edu 37 19 9070704 9070704 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9070704G>A ENST00000397910.4 - 3 16945 c.16742C>T c.(16741-16743)cCc>cTc p.P5581L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5583 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGTCCCAGGGAAGGATACC 0.517000 54 139 0 0 0.003610 0 0 RASL10A 10633 broad.mit.edu 37 22 29709932 29709932 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:29709932G>A ENST00000401450.3 - 2 709 c.264C>T c.(262-264)gcC>gcT p.A88A RASL10A_ENST00000216101.6_Silent_p.A88A|RASL10A_ENST00000474590.1_5'UTR Q92737 RSLAA_HUMAN RAS-like, family 10, member A 88 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1) 1 CGAGCACGAAGGCGTCCGTGT 0.637000 22 35 0 0 0.001882 0 0 RYR2 6262 broad.mit.edu 37 1 237947694 237947694 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:237947694G>A ENST00000366574.2 + 90 12999 c.12682G>A c.(12682-12684)Gag>Aag p.E4228K RYR2_ENST00000542537.1_Missense_Mutation_p.E4212K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4234K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4228 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) GAGGCCGGAAGAGCAGGGGCC 0.542000 6 20 0 0 0.001168 0 0 SEPSECS 51091 broad.mit.edu 37 4 25125674 25125674 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:25125674C>T ENST00000382103.2 - 11 1457 c.1385G>A c.(1384-1386)aGa>aAa p.R462K SEPSECS_ENST00000302922.3_Missense_Mutation_p.R383K NM_016955.3 NP_058651.3 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 462 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding endometrium(1)|large_intestine(4)|lung(2)|stomach(1) 8 Breast(46;0.173) Pyridoxal Phosphate(DB00114) TCGTTCTTTTCTTACTGCCTT 0.383000 13 49 0 0 0.002450 0 0 KIAA0355 9710 broad.mit.edu 37 19 34838893 34838893 + Missense_Mutation SNP C C T rs138673599 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:34838893C>T ENST00000299505.6 + 11 3506 c.2633C>T c.(2632-2634)cCg>cTg p.P878L NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 878 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GGCAACTGGCCGCCTATGGAT 0.637000 16 29 0 0 0.004007 0 0 PCDH15 65217 broad.mit.edu 37 10 55698675 55698675 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:55698675C>T ENST00000373965.2 - 26 3688 c.3294G>A c.(3292-3294)gtG>gtA p.V1098V PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Silent_p.V1091V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1091V|PCDH15_ENST00000361849.3_Silent_p.V1091V|PCDH15_ENST00000395438.1_Silent_p.V1091V|PCDH15_ENST00000395445.1_Silent_p.V1098V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.V702V|PCDH15_ENST00000395433.1_Silent_p.V1069V|PCDH15_ENST00000437009.1_Silent_p.V1020V|PCDH15_ENST00000395432.2_Silent_p.V1054V|PCDH15_ENST00000414778.1_Silent_p.V1096V NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1091 Cadherin 10. 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 p.V1096V(1)|p.V1091V(1) 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) GAGGTCCATTCACATAGATAA 0.383000 HNSCC(58;0.16) 18 20 0 0 0.010504 0 0 PSG7 5676 broad.mit.edu 37 19 43430647 43430647 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:43430647C>T ENST00000446844.3 - 0 1020 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TCCCGTATTTCACATTGATAG 0.517000 65 127 0 0 0.003610 0 0 KRT6B 3854 broad.mit.edu 37 12 52841151 52841151 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:52841151G>A ENST00000252252.3 - 9 1565 c.1518C>T c.(1516-1518)ggC>ggT p.G506G NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 506 Tail. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) CCAGGCCTAAGCCACTGCCGA 0.622000 10 30 0 0 0.001368 0 0 C4BPA 722 broad.mit.edu 37 1 207297618 207297618 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:207297618C>T ENST00000367070.3 + 6 807 c.613C>T c.(613-615)Ccc>Tcc p.P205S NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 205 Sushi 3. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 CAGCTGTGACCCCCGCTTCTC 0.493000 8 42 0 0 0.006214 0 0 NRK 203447 broad.mit.edu 37 X 105150410 105150410 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:105150410C>T ENST00000428173.2 + 11 1152 c.849C>T c.(847-849)tcC>tcT p.S283S NRK_ENST00000243300.9_Silent_p.S283S Q7Z2Y5 NRK_HUMAN Nik related kinase 283 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TTTTTAGGTCCCGTAAGTTCC 0.403000 HNSCC(51;0.14) 4 2 0 0 0.009096 0 0 LIFR 3977 broad.mit.edu 37 5 38481743 38481743 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:38481743C>T ENST00000263409.4 - 20 3410 c.3248G>A c.(3247-3249)gGa>gAa p.G1083E LIFR_ENST00000453190.2_Missense_Mutation_p.G1083E NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 1083 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GGACCACCCTCCTCCATTAGA 0.408000 T PLAG1 salivary adenoma 46 80 0 0 0.003610 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77528607 77528607 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:77528607T>G ENST00000373304.3 - 3 929 c.637A>C c.(637-639)Att>Ctt p.I213L NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 213 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) AAGGTCAAAATGATCATTGTG 0.313000 8 7 0 0 0.004482 0 0 TGM6 343641 broad.mit.edu 37 20 2380241 2380241 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:2380241G>A ENST00000202625.2 + 6 768 c.707G>A c.(706-708)gGa>gAa p.G236E TGM6_ENST00000381423.1_Missense_Mutation_p.G236E|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 236 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GTGGTGCAAGGACAGTGGCAG 0.642000 21 65 0 0 0.006320 0 0 RNLS 55328 broad.mit.edu 37 10 90074264 90074264 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:90074264G>A ENST00000371947.3 - 6 2174 c.835C>T c.(835-837)Cag>Tag p.Q279* RNLS_ENST00000437752.1_Nonsense_Mutation_p.Q196*|RNLS_ENST00000331772.4_Nonsense_Mutation_p.Q279* NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 279 extracellular region oxidoreductase activity breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 GCAATTGGCTGAGGCAAACCC 0.438000 34 32 0 0 0.005524 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054070 67054070 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:67054070G>A ENST00000295568.4 + 3 732 c.601G>A c.(601-603)Gaa>Aaa p.E201K KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.E227K|KBTBD8_ENST00000469661.1_3'UTR NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 227 BACK. breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) TGAACAGAATGAAAGAGAAGT 0.378000 18 34 0 0 0.004990 0 0 RYR2 6262 broad.mit.edu 37 1 237947684 237947684 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:237947684G>A ENST00000366574.2 + 90 12989 c.12672G>A c.(12670-12672)gaG>gaA p.E4224E RYR2_ENST00000542537.1_Silent_p.E4208E|RYR2_ENST00000360064.6_Silent_p.E4230E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4224 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) GCGAGAAGGAGAGGCCGGAAG 0.542000 10 23 0 0 0.006214 0 0 ZNF560 147741 broad.mit.edu 37 19 9577650 9577650 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9577650C>T ENST00000301480.4 - 10 2186 c.1973G>A c.(1972-1974)tGt>tAt p.C658Y NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 658 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 ACATGCATTACATTTATAGGG 0.383000 26 64 0 0 0.007291 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807310 15807310 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:15807310C>T ENST00000550308.1 + 12 1765 c.1385C>T c.(1384-1386)tCc>tTc p.S462F CYP4F12_ENST00000324632.9_Missense_Mutation_p.S462F NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) ATTCCTTTCTCCGCAGGGCCC 0.562000 38 76 0 0 0.006999 0 0 MAST4 375449 broad.mit.edu 37 5 66396278 66396278 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:66396278C>T ENST00000404260.3 + 8 1245 c.937C>T c.(937-939)Cag>Tag p.Q313* MAST4_ENST00000403666.1_Nonsense_Mutation_p.Q121*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.Q116*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.Q131*|MAST4_ENST00000490016.2_Nonsense_Mutation_p.Q121*|MAST4_ENST00000403625.2_Nonsense_Mutation_p.Q310* O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 313 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CTGTTCCTCCCAGGAGAAGTT 0.423000 14 51 0 0 0.004007 0 0 UBE2D1 7321 broad.mit.edu 37 10 60123403 60123403 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:60123403T>C ENST00000373910.4 + 4 382 c.155T>C c.(154-156)cTc>cCc p.L52P NM_001204880.1|NM_003338.4 NP_001191809.1|NP_003329.1 P51668 UB2D1_HUMAN ubiquitin-conjugating enzyme E2D 1 52 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2) 10 GTCTTCTTTCTCACTGTACAT 0.294000 13 12 0 0 0.006122 0 0 MROH2B 133558 broad.mit.edu 37 5 41000800 41000800 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:41000800G>A ENST00000399564.4 - 38 4780 c.4330C>T c.(4330-4332)Ccc>Tcc p.P1444S MROH2B_ENST00000506092.2_Missense_Mutation_p.P999S NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTGGGGTTGGGATCCCAAAGG 0.483000 8 20 0 0 0.003080 0 0 HIST1H2AK 8330 broad.mit.edu 37 6 27805876 27805876 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:27805876G>A ENST00000330180.2 - 1 241 c.242C>T c.(241-243)cCg>cTg p.P81L NM_003510.2 NP_003501.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 81 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2) 10 CAAGTGGCGCGGGATGATGCG 0.632000 41 99 0 0 0.009718 0 0 TTN 7273 broad.mit.edu 37 2 179643629 179643629 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179643629G>A ENST00000589042.1 - 24 4404 c.4180C>T c.(4180-4182)Ccc>Tcc p.P1394S TTN_ENST00000359218.5_Missense_Mutation_p.P1348S|TTN_ENST00000342992.6_Missense_Mutation_p.P1394S|TTN_ENST00000360870.5_Missense_Mutation_p.P1394S|TTN_ENST00000460472.2_Missense_Mutation_p.P1348S|TTN_ENST00000342175.6_Missense_Mutation_p.P1348S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P1394S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1394 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) TCTAGTGTGGGAATGTAAGTC 0.383000 11 31 0 0 0.008291 0 0 IL12RB1 3594 broad.mit.edu 37 19 18193031 18193031 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:18193031G>A ENST00000600835.1 - 4 471 c.168C>T c.(166-168)tcC>tcT p.S56S IL12RB1_ENST00000322153.6_Silent_p.S56S|IL12RB1_ENST00000593993.1_Silent_p.S56S|IL12RB1_ENST00000430026.2_Silent_p.S56S P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 56 Fibronectin type-III 1. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 AACGATCACTGGATATCCGAT 0.597000 11 14 0 0 0.000978 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192929 132192929 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:132192929G>A ENST00000359827.3 - 2 1486 c.524C>T c.(523-525)tCc>tTc p.S175F PLXNA4_ENST00000321063.4_Missense_Mutation_p.S175F|PLXNA4_ENST00000423507.2_Missense_Mutation_p.S175F|PLXNA4_ENST00000378539.5_Missense_Mutation_p.S175F Q9HCM2 PLXA4_HUMAN plexin A4 175 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GTTGCTGTAGGAGACGATCAC 0.532000 27 77 0 0 0.005443 0 0 CNTN5 53942 broad.mit.edu 37 11 100126491 100126491 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:100126491G>A ENST00000524871.1 + 17 2295 c.e17-1 CNTN5_ENST00000279463.3_Splice_Site|CNTN5_ENST00000528682.1_Splice_Site|CNTN5_ENST00000418526.2_Splice_Site|CNTN5_ENST00000524560.1_Splice_Site|CNTN5_ENST00000527185.1_Splice_Site NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 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) TTGACCTATAGGACCCCCAGG 0.448000 11 41 0 0 0.001368 0 0 CCDC110 256309 broad.mit.edu 37 4 186381146 186381146 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:186381146T>A ENST00000307588.3 - 6 670 c.595A>T c.(595-597)Aac>Tac p.N199Y CCDC110_ENST00000510617.1_Missense_Mutation_p.N199Y|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Missense_Mutation_p.N162Y NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 199 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) CGATAAAAGTTATTATAATTC 0.338000 7 23 0 0 0.001984 0 0 CEP70 80321 broad.mit.edu 37 3 138224239 138224239 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:138224239T>A ENST00000264982.3 - 13 1385 c.1119A>T c.(1117-1119)aaA>aaT p.K373N CEP70_ENST00000484888.1_Missense_Mutation_p.K373N|CEP70_ENST00000489254.1_Missense_Mutation_p.K221N|CEP70_ENST00000481834.1_Missense_Mutation_p.K373N|CEP70_ENST00000542237.1_Missense_Mutation_p.K353N NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 373 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 GGACTCCCCCTTTGGTCTGTT 0.333000 141 315 0 0 0.003610 0 0 AP2A2 161 broad.mit.edu 37 11 1006571 1006571 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:1006571C>T ENST00000448903.2 + 17 2391 c.2250C>T c.(2248-2250)ttC>ttT p.F750F AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Silent_p.F751F|AP2A2_ENST00000534328.1_Intron NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 750 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CCACGCAGTTCCTAAACTTTA 0.423000 27 88 0 0 0.009535 0 0 DNMBP 23268 broad.mit.edu 37 10 101715817 101715817 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:101715817G>A ENST00000342239.3 - 4 1505 c.1414C>T c.(1414-1416)Cag>Tag p.Q472* DNMBP_ENST00000324109.4_Nonsense_Mutation_p.Q472*|DNMBP-AS1_ENST00000434409.1_RNA Q6XZF7 DNMBP_HUMAN dynamin binding protein 472 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ACTGGCTTCTGAAGAGTTTTT 0.488000 43 56 0 0 0.002522 0 0 PCM1 5108 broad.mit.edu 37 8 17819629 17819629 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:17819629C>T ENST00000325083.8 + 16 2848 c.2409C>T c.(2407-2409)acC>acT p.T803T PCM1_ENST00000524226.1_Silent_p.T804T|PCM1_ENST00000519253.1_Silent_p.T803T NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 803 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) AACACGAGACCAGTACAAGCA 0.378000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 4 20 0 0 0.009096 0 0 DNAH1 25981 broad.mit.edu 37 3 52422519 52422519 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:52422519A>C ENST00000420323.2 + 58 9518 c.9257A>C c.(9256-9258)gAc>gCc p.D3086A NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3086 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GAGGTGGAGGACGGCATCGCC 0.617000 4 12 0 0 0.009096 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323726 79323726 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:79323726C>T ENST00000428286.1 - 8 3587 c.2387G>A c.(2386-2388)gGa>gAa p.G796E PRUNE2_ENST00000376718.3_Missense_Mutation_p.G1155E Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1155 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGCCATGTATCCTTCTGTTTG 0.517000 37 50 0 0 0.003755 0 0 CHD8 57680 broad.mit.edu 37 14 21868700 21868700 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:21868700G>A ENST00000399982.2 - 22 4506 c.4442C>T c.(4441-4443)aCc>aTc p.T1481I CHD8_ENST00000430710.3_Missense_Mutation_p.T1202I|CHD8_ENST00000557364.1_Missense_Mutation_p.T1481I|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1481 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) CCGACAAATGGTCTCCACATC 0.428000 7 21 0 0 0.003080 0 0 HNRNPU 3192 broad.mit.edu 37 1 245021405 245021405 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:245021405G>A ENST00000444376.2 - 7 1579 c.1345C>T c.(1345-1347)Cca>Tca p.P449S HNRNPU_ENST00000283179.9_Missense_Mutation_p.P468S NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 468 B30.2/SPRY. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TCAGGTATTGGAAAATATGGC 0.448000 7 23 0 0 0.001984 0 0 RYR3 6263 broad.mit.edu 37 15 33920732 33920732 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:33920732C>T ENST00000389232.4 + 21 2705 c.2635C>T c.(2635-2637)Ctt>Ttt p.L879F RYR3_ENST00000415757.3_Missense_Mutation_p.L879F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 879 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CATCCATGAGCTTTGGGGAAT 0.453000 25 21 0 0 0.006320 0 0 TRPV5 56302 broad.mit.edu 37 7 142609899 142609899 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:142609899G>A ENST00000265310.1 - 13 1885 c.1537C>T c.(1537-1539)Cag>Tag p.Q513* NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 513 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TCCTCTGTCTGGAAAATGATA 0.463000 56 84 0 0 0.003610 0 0 MYO5B 4645 broad.mit.edu 37 18 47563277 47563277 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:47563277C>T ENST00000285039.7 - 4 697 c.398G>A c.(397-399)gGa>gAa p.G133E NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 133 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.G133E(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GTCCATGTCTCCCATGTTTTG 0.478000 15 27 0 0 0.007413 0 0 RELN 5649 broad.mit.edu 37 7 103322673 103322673 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:103322673G>A ENST00000424685.2 - 11 1338 c.1179C>T c.(1177-1179)ttC>ttT p.F393F RELN_ENST00000428762.1_Silent_p.F393F|RELN_ENST00000343529.5_Silent_p.F393F P78509 RELN_HUMAN reelin 393 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CATTTCCATGGAAATAAATGG 0.448000 65 83 0 0 0.003610 0 0 HGD 3081 broad.mit.edu 37 3 120393830 120393830 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:120393830G>A ENST00000283871.5 - 3 553 c.94C>T c.(94-96)Cct>Tct p.P32S HGD_ENST00000488183.1_5'UTR NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 32 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) CAGACCTGAGGATTATTCTGA 0.473000 39 98 0 0 0.006230 0 0 ZNF99 7652 broad.mit.edu 37 19 22940058 22940058 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:22940058G>A ENST00000397104.3 - 6 2272 c.2273C>T c.(2272-2274)tCc>tTc p.S758F zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAGGGTTGAGGAATTGTTAAA 0.348000 13 34 0 0 0.001368 0 0 IGSF9B 22997 broad.mit.edu 37 11 133801430 133801430 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:133801430T>A ENST00000321016.8 - 10 1516 c.1286A>T c.(1285-1287)gAg>gTg p.E429V IGSF9B_ENST00000533871.2_Missense_Mutation_p.E429V Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 429 Ig-like 5. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTGCCTGTACTCCCAGCCTGG 0.652000 11 39 0 0 0.001368 0 0 PLK2 10769 broad.mit.edu 37 5 57755647 57755647 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:57755647G>A ENST00000274289.3 - 1 440 c.140C>T c.(139-141)tCc>tTc p.S47F NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 47 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) TTGCGCCTGGGACTGAGGTGG 0.672000 11 30 0 0 0.000978 0 0 C1orf200 644997 broad.mit.edu 37 1 9714387 9714387 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:9714387C>T ENST00000377320.3 - 1 257 c.108G>A c.(106-108)caG>caA p.Q36Q PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron chromosome 1 open reading frame 200 endometrium(1)|large_intestine(2)|lung(5)|pancreas(1) 9 all_lung(157;0.222) Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) TTGCACTAAGCTGTGGGCTCC 0.582000 14 66 0 0 0.002450 0 0 MMP26 56547 broad.mit.edu 37 11 5013468 5013468 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:5013468C>T ENST00000380390.1 + 7 998 c.782C>T c.(781-783)cCt>cTt p.P261L MMP26_ENST00000300762.1_Missense_Mutation_p.P261L Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 261 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) TCTGACATACCTTAATGTTAG 0.403000 5 14 0 0 0.001168 0 0 UNC5C 8633 broad.mit.edu 37 4 96163673 96163673 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:96163673C>T ENST00000453304.1 - 7 1363 c.1015G>A c.(1015-1017)Gag>Aag p.E339K UNC5C_ENST00000506749.1_Missense_Mutation_p.E339K NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 339 TSP type-1 2. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCCGTGCACTCCCTCCTGCGC 0.582000 7 18 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9064721 9064721 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9064721G>A ENST00000397910.4 - 3 22928 c.22725C>T c.(22723-22725)tcC>tcT p.S7575S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7577 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTCTGTCCTGGAGACCTCAG 0.502000 36 81 0 0 0.004878 0 0 MPP7 143098 broad.mit.edu 37 10 28348640 28348640 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:28348640C>T ENST00000337532.5 - 15 1513 c.1237G>A c.(1237-1239)Gat>Aat p.D413N MPP7_ENST00000375732.1_Missense_Mutation_p.D413N|MPP7_ENST00000540098.1_Missense_Mutation_p.D413N|MPP7_ENST00000445954.2_Missense_Mutation_p.D288N|MPP7_ENST00000375719.3_Missense_Mutation_p.D413N NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 413 Guanylate kinase-like. 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 TCAACACCATCACTCTCCTGG 0.343000 13 43 0 0 0.001855 0 0 ZNF560 147741 broad.mit.edu 37 19 9577542 9577542 + Missense_Mutation SNP C C T rs148650284 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9577542C>T ENST00000301480.4 - 10 2294 c.2081G>A c.(2080-2082)cGa>cAa p.R694Q NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 694 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R694Q(1) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CATGGAATTTCGAAAGGAATT 0.378000 59 94 0 0 0.003610 0 0 FLNC 2318 broad.mit.edu 37 7 128483492 128483492 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:128483492C>T ENST00000325888.8 + 18 2933 c.2672C>T c.(2671-2673)aCg>aTg p.T891M FLNC_ENST00000346177.6_Missense_Mutation_p.T891M NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 891 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACCCACTTCACGGTGCTGACC 0.612000 13 47 0 0 0.002450 0 0 KCNH5 27133 broad.mit.edu 37 14 63175075 63175075 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:63175075G>A ENST00000322893.7 - 11 2386 c.2118C>T c.(2116-2118)gtC>gtT p.V706V KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 706 Calmodulin-binding (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AGAGCTTTCTGACTGGGTGGT 0.542000 39 118 0 0 0.003214 0 0 DSC3 1825 broad.mit.edu 37 18 28598670 28598670 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:28598670C>T ENST00000434452.1 - 8 1193 c.1039G>A c.(1039-1041)Gat>Aat p.D347N DSC3_ENST00000360428.4_Missense_Mutation_p.D347N NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 347 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding p.D347Y(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TCATTTGAATCTGTTACTGTT 0.333000 10 49 0 0 0.000978 0 0 RAVER1 125950 broad.mit.edu 37 19 10431579 10431579 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:10431579G>A ENST00000293677.6 - 9 1654 c.1573C>T c.(1573-1575)Ccc>Tcc p.P525S NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 525 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TTCAGGTAGGGATTCAGGGGA 0.701000 6 28 0 0 0.004482 0 0 CSMD3 114788 broad.mit.edu 37 8 113299325 113299325 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:113299325C>T ENST00000297405.5 - 58 9543 c.9299G>A c.(9298-9300)gGc>gAc p.G3100D CSMD3_ENST00000455883.2_Missense_Mutation_p.G2931D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3030D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3060D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3100 Sushi 22. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGTCCAACTGCCATTAGCTAA 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 62 0 0 0.002780 0 0 TAOK2 9344 broad.mit.edu 37 16 29996834 29996834 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:29996834G>A ENST00000308893.4 + 14 2766 c.1723G>A c.(1723-1725)Gag>Aag p.E575K TAOK2_ENST00000543033.1_Missense_Mutation_p.E575K|TAOK2_ENST00000416441.2_Missense_Mutation_p.E402K|TAOK2_ENST00000279394.3_Missense_Mutation_p.E575K NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 575 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCAGAAGAAGGAGCTGGCTGC 0.647000 5 15 0 0 0.000602 0 0 MMP27 64066 broad.mit.edu 37 11 102573832 102573832 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:102573832G>A ENST00000260229.4 - 3 450 c.359C>T c.(358-360)cCg>cTg p.P120L NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 120 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.P120L(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) TGCCATATCCGGAGTATAGTT 0.348000 10 32 0 0 0.006214 0 0 KCNB2 9312 broad.mit.edu 37 8 73479983 73479983 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:73479983C>T ENST00000523207.1 + 2 602 c.14C>T c.(13-15)gCt>gTt p.A5V NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 5 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GCAGAAAAGGCTCCCCCGGGC 0.507000 25 70 0 0 0.004656 0 0 PRDM4 11108 broad.mit.edu 37 12 108145331 108145331 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:108145331G>A ENST00000228437.5 - 5 1446 c.987C>T c.(985-987)gtC>gtT p.V329V RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 329 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 TGATGGAGGAGACAGCCACAG 0.498000 34 26 0 0 0.004878 0 0 ZNF813 126017 broad.mit.edu 37 19 53994127 53994127 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:53994127C>T ENST00000396403.4 + 4 769 c.641C>T c.(640-642)tCt>tTt p.S214F ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AGAGAAAAGTCTTTCCAATGT 0.343000 27 73 0 0 0.006320 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901625 2901625 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:2901625C>T ENST00000254695.8 + 14 1245 c.1155C>T c.(1153-1155)atC>atT p.I385I RAP1GAP2_ENST00000540393.2_Silent_p.I366I|RAP1GAP2_ENST00000366401.4_Silent_p.I370I|RAP1GAP2_ENST00000542807.1_Silent_p.I385I NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 385 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 ATGCCTACATCGTCGTGCAGG 0.532000 9 64 0 0 0.004482 0 0 NOL12 79159 broad.mit.edu 37 22 38086704 38086704 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:38086704G>A ENST00000359114.4 + 5 452 c.381_splice c.e5-1 p.G128_splice RP1-37E16.12_ENST00000455236.1_RNA|NOL12_ENST00000493862.1_3'UTR NM_024313.2 NP_077289.1 Q9UGY1 NOL12_HUMAN nucleolar protein 12 128 nucleolus rRNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 8 Melanoma(58;0.0574) GCCTCTTTAGGGAGGGGCTGG 0.627000 54 123 0 0 0.003610 0 0 DPP10 57628 broad.mit.edu 37 2 116447454 116447454 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:116447454C>T ENST00000410059.1 + 7 1013 c.533C>T c.(532-534)tCc>tTc p.S178F DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.S128F|DPP10_ENST00000393147.2_Missense_Mutation_p.S182F|DPP10_ENST00000310323.8_Missense_Mutation_p.S171F NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 178 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GTAGAGGACTCCGTCTTGCAG 0.443000 34 86 0 0 0.007835 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814320 106814320 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:106814320G>A ENST00000407775.2 + 8 2260 c.2010G>A c.(2008-2010)gtG>gtA p.V670V RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.V401V|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.V538V|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.V538V NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 670 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTGTTGATGTGAAAAATCCCA 0.443000 10 20 0 0 0.006214 0 0 ZNF574 64763 broad.mit.edu 37 19 42584958 42584958 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:42584958C>T ENST00000600245.1 + 2 2855 c.2200C>T c.(2200-2202)Cgc>Tgc p.R734C ZNF574_ENST00000222339.7_Missense_Mutation_p.R824C|ZNF574_ENST00000359044.4_Missense_Mutation_p.R734C Q6ZN55 ZN574_HUMAN zinc finger protein 574 734 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) GGCCCCTGCCCGCCGCCGGGG 0.677000 41 90 0 0 0.006999 0 0 OR2W1 26692 broad.mit.edu 37 6 29012046 29012046 + Nonsense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:29012046T>A ENST00000377175.1 - 1 971 c.907A>T c.(907-909)Aaa>Taa p.K303* NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 CTCATCAGTTTCTTCAGGGCA 0.378000 8 18 0 0 0.006214 0 0 COQ5 84274 broad.mit.edu 37 12 120966880 120966880 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:120966880C>T ENST00000288532.6 - 1 105 c.65G>A c.(64-66)cGg>cAg p.R22Q COQ5_ENST00000445328.2_Missense_Mutation_p.R22Q NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 22 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGGCAGCCCCGCATCGCCCG 0.652000 10 29 0 0 0.006214 0 0 GPR179 440435 broad.mit.edu 37 17 36499102 36499102 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:36499102C>T ENST00000342292.4 - 1 591 c.571G>A c.(571-573)Gac>Aac p.D191N NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 191 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GTGTCCAGGTCCCCAGGAGGG 0.637000 15 49 0 0 0.003163 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455607 50455607 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:50455607C>T ENST00000447370.2 - 9 1786 c.1696G>A c.(1696-1698)Gga>Aga p.G566R SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G470R|CTC-326K19.6_ENST00000451973.1_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 566 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) ACGCCAGCTCCCAGGGCAGCC 0.657000 21 65 0 0 0.002299 0 0 CWC22 57703 broad.mit.edu 37 2 180810045 180810045 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:180810045G>A ENST00000410053.3 - 20 2837 c.2538C>T c.(2536-2538)ttC>ttT p.F846F CWC22_ENST00000295749.6_Silent_p.F846F NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 846 catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 CTTTTCTTCTGAAATTTTCAC 0.363000 37 76 0 0 0.003755 0 0 RFPL3 10738 broad.mit.edu 37 22 32756362 32756362 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:32756362C>T ENST00000249007.4 + 2 702 c.497C>T c.(496-498)tCc>tTc p.S166F RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.S137F|RFPL3_ENST00000397468.1_Missense_Mutation_p.S137F NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 166 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 TTTGACGTGTCCGTTTGCATC 0.567000 34 72 0 0 0.004289 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679778 160679778 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:160679778G>A ENST00000366953.3 - 1 270 c.12C>T c.(10-12)acC>acT p.T4T SLC22A2_ENST00000366952.1_Intron|SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 4 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CATCGTCCACGGTGGTGGGCA 0.622000 8 33 0 0 0.004482 0 0 DNAH5 1767 broad.mit.edu 37 5 13769134 13769134 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13769134C>T ENST00000265104.4 - 58 9936 c.9832G>A c.(9832-9834)Gcc>Acc p.A3278T DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3278 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCAGCAATGGCTTTGTCTTTA 0.468000 Kartagener syndrome 68 144 0 0 0.003610 0 0 ZNF782 158431 broad.mit.edu 37 9 99581465 99581465 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:99581465G>A ENST00000481138.1 - 6 1501 c.840C>T c.(838-840)ttC>ttT p.F280F ZNF782_ENST00000535338.1_Silent_p.F148F NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) TGATTCTACAGAAACAATTTC 0.358000 24 33 0 0 0.003954 0 0 WNT8A 7478 broad.mit.edu 37 5 137423581 137423581 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:137423581G>A ENST00000506684.1 + 3 618 c.382G>A c.(382-384)Gaa>Aaa p.E128K WNT8A_ENST00000398754.1_Missense_Mutation_p.E110K Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 110 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGGTGACTTCGAAAACTGTGG 0.483000 47 105 0 0 0.003214 0 0 KRT4 3851 broad.mit.edu 37 12 53207961 53207961 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:53207961G>A ENST00000293774.4 - 1 374 c.104C>T c.(103-105)gCc>gTc p.A35V KRT4_ENST00000551956.1_5'UTR B4DRS2 B4DRS2_HUMAN keratin 4 0 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GGTTGCAGGGGCATAAAGGGA 0.557000 12 24 0 0 0.000978 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112150 64112150 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:64112150G>A ENST00000356786.5 + 14 2181 c.2137G>A c.(2137-2139)Ggc>Agc p.G713S CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 713 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGTCTGGGAAGGCCCAATCCC 0.622000 12 29 0 0 0.001368 0 0 ZNF423 23090 broad.mit.edu 37 16 49670894 49670894 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:49670894G>A ENST00000561648.1 - 4 2222 c.2169C>T c.(2167-2169)acC>acT p.T723T ZNF423_ENST00000535559.1_Silent_p.T606T|ZNF423_ENST00000562871.1_Silent_p.T663T|ZNF423_ENST00000262383.2_Silent_p.T723T|ZNF423_ENST00000567169.1_Silent_p.T606T|ZNF423_ENST00000563137.2_Silent_p.T663T|ZNF423_ENST00000562520.1_Silent_p.T663T NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 723 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CCTGACACAGGGTGCAGTGGT 0.557000 19 23 0 0 0.007413 0 0 DGKG 1608 broad.mit.edu 37 3 185882732 185882732 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:185882732T>G ENST00000265022.3 - 23 2710 c.2171A>C c.(2170-2172)aAg>aCg p.K724T DGKG_ENST00000544847.1_Missense_Mutation_p.K665T|DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000382164.4_Missense_Mutation_p.K685T|DGKG_ENST00000344484.4_Missense_Mutation_p.K699T NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 724 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GCCTGCACTCTTCAGGCCGGT 0.587000 18 31 0 0 0.007413 0 0 ECE2 9718 broad.mit.edu 37 3 184008046 184008046 + Missense_Mutation SNP G G A rs142884324 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:184008046G>A ENST00000402825.3 + 14 1909 c.1909G>A c.(1909-1911)Gaa>Aaa p.E637K ECE2_ENST00000357474.5_Missense_Mutation_p.E565K|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.E490K|ECE2_ENST00000404464.3_Missense_Mutation_p.E519K NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 637 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCACAGTACGAAATTTCTGA 0.448000 7 10 0 0 0.003080 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182268 140182268 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140182268G>A ENST00000522353.2 + 1 1486 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.E496K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGCTGGTGGAACGGCGGGT 0.677000 34 60 0 0 0.003610 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764433 109764433 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:109764433G>A ENST00000602699.1 + 0 894 NR_002718.2 CTTTGAACTGGGATTAGTTGC 0.507000 20 6 0 0 0.001882 0 0 MYCBP2 23077 broad.mit.edu 37 13 77742742 77742742 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:77742742G>A ENST00000407578.2 - 40 6201 c.5935C>T c.(5935-5937)Ccg>Tcg p.P1979S MYCBP2_ENST00000544440.2_Missense_Mutation_p.P1941S|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P1941S|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1941 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCAACTGACGGAAGCAATTGT 0.438000 25 52 0 0 0.004656 0 0 XCR1 2829 broad.mit.edu 37 3 46062686 46062686 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:46062686G>A ENST00000309285.3 - 2 1110 c.754C>T c.(754-756)Cgg>Tgg p.R252W XCR1_ENST00000542109.1_Missense_Mutation_p.R252W NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 252 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) ATCTGGGTCCGAAACAGCGTC 0.602000 15 33 0 0 0.004007 0 0 TAAR2 9287 broad.mit.edu 37 6 132939145 132939145 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:132939145G>A ENST00000275191.2 - 1 172 c.65C>T c.(64-66)tCc>tTc p.S22F TAAR2_ENST00000537809.1_Missense_Mutation_p.S22F|TAAR2_ENST00000367931.1_Missense_Mutation_p.S67F NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 67 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) GTAGGAAATGGAAATTATCAT 0.428000 27 34 0 0 0.005443 0 0 PADI6 353238 broad.mit.edu 37 1 17698794 17698794 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:17698794C>T ENST00000434762.2 + 0 104 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TCCACCTGTCCCTGGACAGCC 0.612000 57 112 0 0 0.003610 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712561 140712561 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140712561C>T ENST00000517417.1 + 1 2310 c.2310C>T c.(2308-2310)ttC>ttT p.F770F PCDHGA1_ENST00000378105.3_Silent_p.F770F NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGATTTTCCCCCAGCCCA 0.547000 49 98 0 0 0.003610 0 0 TRANK1 9881 broad.mit.edu 37 3 36879994 36879994 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:36879994C>T ENST00000429976.2 - 19 5501 c.5252_splice c.e19-1 p.E1752_splice TRANK1_ENST00000428977.2_Splice_Site_p.E1202_splice|TRANK1_ENST00000301807.6_Splice_Site_p.E1202_splice O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1752 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AACTGCTTTTCCCTAGGGGAA 0.438000 12 39 0 0 0.001368 0 0 TUBBP1 92755 broad.mit.edu 37 8 30209946 30209946 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:30209946G>A ENST00000518096.1 + 0 558 CACTGGGTGGGGGCACAGGCT 0.567000 13 23 0 0 0.001855 0 0 FAT1 2195 broad.mit.edu 37 4 187549860 187549860 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:187549860A>T ENST00000441802.2 - 8 4590 c.4381T>A c.(4381-4383)Tat>Aat p.Y1461N NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1461 Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACAACTTCATACTTTGATGTA 0.348000 HNSCC(5;0.00058) 13 31 0 0 0.002450 0 0 RALGAPB 57148 broad.mit.edu 37 20 37199425 37199425 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:37199425C>T ENST00000262879.6 + 28 4361 c.4077C>T c.(4075-4077)ctC>ctT p.L1359L RALGAPB_ENST00000397042.3_Silent_p.L1356L|RALGAPB_ENST00000397038.1_Silent_p.L1138L|RALGAPB_ENST00000397040.1_Silent_p.L1359L Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1359 Rap-GAP. activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ACTTTCCCCTCTCAGAGCTGA 0.373000 17 41 0 0 0.007413 0 0 TMEM131 23505 broad.mit.edu 37 2 98422129 98422129 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:98422129G>A ENST00000186436.5 - 20 2321 c.2093C>T c.(2092-2094)tCc>tTc p.S698F NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 698 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CTGTGAGAAGGAATTCATAAT 0.333000 41 106 0 0 0.006999 0 0 MUC3A 4584 broad.mit.edu 37 7 100550147 100550147 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:100550147C>T ENST00000379458.4 + 2 728 c.728C>T c.(727-729)aCc>aTc p.243_243insI MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACGTCCCCAACCCCAGTATTT 0.483000 7 314 0 0 0.004990 0 0 OR9G4 283189 broad.mit.edu 37 11 56510580 56510580 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:56510580G>A ENST00000302957.3 - 1 707 c.708C>T c.(706-708)atC>atT p.I236I NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TAGCCAGGAGGATGTTGACAT 0.488000 33 61 0 0 0.003755 0 0 C12orf40 283461 broad.mit.edu 37 12 40115044 40115044 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:40115044G>A ENST00000324616.5 + 13 2104 c.1950G>A c.(1948-1950)aaG>aaA p.K650K NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 650 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 AAATCCATAAGAACAACTAAT 0.333000 10 33 0 0 0.008291 0 0 RCL1 10171 broad.mit.edu 37 9 4826969 4826969 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:4826969C>T ENST00000381750.4 + 3 543 c.320C>T c.(319-321)cCa>cTa p.P107L RCL1_ENST00000381732.3_Missense_Mutation_p.P107L NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 107 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) TGCTTGGCTCCATTTATGAAG 0.458000 42 220 0 0 0.007835 0 0 SALL2 6297 broad.mit.edu 37 14 21990313 21990313 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:21990313G>A ENST00000317492.5 - 3 469 c.457C>T c.(457-459)Cac>Tac p.H153Y AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000327430.3_3'UTR|SALL2_ENST00000538754.1_Missense_Mutation_p.H151Y|SALL2_ENST00000450879.2_Silent_p.S850S Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 931 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GAGTGGTAGTGGAGGTGGAGC 0.562000 14 15 0 0 0.003163 0 0 FLNA 2316 broad.mit.edu 37 X 153577854 153577854 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:153577854G>A ENST00000422373.1 - 46 7856 c.7608C>T c.(7606-7608)gcC>gcT p.A2536A FLNA_ENST00000369856.3_Silent_p.A677A|FLNA_ENST00000360319.4_Silent_p.A2536A|FLNA_ENST00000344736.4_Silent_p.A2504A|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369850.3_Silent_p.A2544A NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2544 Hinge 2.|Self-association site, tail. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATGCTGGGGGGCACAGGTGG 0.652000 29 23 0 0 0.008361 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596353 24596353 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:24596353C>T ENST00000535378.1 - 4 1164 c.522G>A c.(520-522)acG>acA p.T174T KIAA0319_ENST00000543707.1_Silent_p.T183T|KIAA0319_ENST00000537886.1_Silent_p.T183T|KIAA0319_ENST00000378214.3_Silent_p.T183T|KIAA0319_ENST00000430948.2_Silent_p.T138T NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 183 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GGCCCCAGTCCGTGTACTCGG 0.617000 10 22 0 0 0.008291 0 0 PLEC 5339 broad.mit.edu 37 8 144996939 144996939 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:144996939C>T ENST00000322810.4 - 31 7738 c.7569G>A c.(7567-7569)aaG>aaA p.K2523K PLEC_ENST00000345136.3_Silent_p.K2386K|PLEC_ENST00000356346.3_Silent_p.K2372K|PLEC_ENST00000527096.1_Silent_p.K2409K|PLEC_ENST00000436759.2_Silent_p.K2413K|PLEC_ENST00000357649.2_Silent_p.K2390K|PLEC_ENST00000398774.2_Silent_p.K2354K|PLEC_ENST00000354958.2_Silent_p.K2364K|PLEC_ENST00000354589.3_Silent_p.K2386K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2523 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCACACGCAGCTTGAGGCGCT 0.706000 3 13 0 0 0.004672 0 0 NLRP8 126205 broad.mit.edu 37 19 56466710 56466710 + Missense_Mutation SNP G G A rs150630809 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:56466710G>A ENST00000291971.3 + 3 1357 c.1286G>A c.(1285-1287)cGg>cAg p.R429Q NLRP8_ENST00000590542.1_Missense_Mutation_p.R429Q NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 429 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTGTTCGTCCGGTATATTTCT 0.493000 31 69 0 0 0.003271 0 0 NRP1 8829 broad.mit.edu 37 10 33475384 33475384 + Missense_Mutation SNP C C T rs139081795 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:33475384C>T ENST00000265371.4 - 15 2620 c.2095G>A c.(2095-2097)Gaa>Aaa p.E699K NRP1_ENST00000395995.1_Missense_Mutation_p.E699K|NRP1_ENST00000374867.2_Missense_Mutation_p.E699K O14786 NRP1_HUMAN neuropilin 1 699 MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TTCTGATTTTCGTCAGCTTGG 0.493000 21 53 0 0 0.003330 0 0 SH2D3A 10045 broad.mit.edu 37 19 6760924 6760924 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:6760924C>T ENST00000245908.6 - 3 413 c.144G>A c.(142-144)gtG>gtA p.V48V SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 48 SH2. JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGCAGGAGATCACGGGGTTGC 0.642000 13 31 0 0 0.003163 0 0 DERL2 51009 broad.mit.edu 37 17 5383830 5383830 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:5383830G>A ENST00000158771.4 - 5 455 c.400C>T c.(400-402)Cga>Tga p.R134* DERL2_ENST00000570848.1_Intron|DERL2_ENST00000572834.1_Intron NM_016041.3 NP_057125.2 Q9GZP9 DERL2_HUMAN derlin 2 134 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane protein binding large_intestine(3) 3 GGGTTCCTTCGGCTCCACACA 0.483000 28 136 0 0 0.008361 0 0 HDAC9 9734 broad.mit.edu 37 7 18633644 18633644 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:18633644G>A ENST00000406451.3 + 6 797 c.647G>A c.(646-648)cGa>cAa p.R216Q HDAC9_ENST00000441542.2_Missense_Mutation_p.R219Q|HDAC9_ENST00000406072.1_Missense_Mutation_p.R247Q|HDAC9_ENST00000456174.2_Missense_Mutation_p.R188Q|HDAC9_ENST00000432645.2_Missense_Mutation_p.R216Q|HDAC9_ENST00000405010.3_Missense_Mutation_p.R216Q|HDAC9_ENST00000428307.2_Missense_Mutation_p.R216Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.R219Q|HDAC9_ENST00000524023.1_Missense_Mutation_p.R183Q|HDAC9_ENST00000417496.2_Missense_Mutation_p.R258Q NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 216 Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TTCCCCCTTCGAAAAACTGGT 0.418000 28 48 0 0 0.005443 0 0 OR4K17 390436 broad.mit.edu 37 14 20586278 20586278 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:20586278C>T ENST00000315543.4 + 1 713 c.713C>T c.(712-714)tCc>tTc p.S238F NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GGCATAATCTCCCTGAGCTGT 0.413000 25 99 0 0 0.003954 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159064 18159064 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:18159064C>T ENST00000396275.2 + 3 676 c.315C>T c.(313-315)ccC>ccT p.P105P NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 105 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TGACCTTTCCCTACTTTATAG 0.547000 29 88 0 0 0.007291 0 0 RSPO1 284654 broad.mit.edu 37 1 38078505 38078505 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:38078505G>A ENST00000356545.2 - 8 1501 c.714C>T c.(712-714)ggC>ggT p.G238G RSPO1_ENST00000401071.2_Silent_p.G175G|RSPO1_ENST00000401068.1_Silent_p.G238G|RSPO1_ENST00000401069.1_Silent_p.G238G|RSPO1_ENST00000401070.1_Silent_p.G175G|RSPO1_ENST00000373059.1_Silent_p.G211G NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 238 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTCTTCGAGAGCCAGCACCCG 0.642000 33 46 0 0 0.002445 0 0 CASC1 55259 broad.mit.edu 37 12 25267768 25267768 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:25267768G>A ENST00000354189.5 - 13 1642 c.1607C>T c.(1606-1608)tCc>tTc p.S536F CASC1_ENST00000320267.9_Missense_Mutation_p.S472F|CASC1_ENST00000537577.1_Missense_Mutation_p.S360F|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.S413F|CASC1_ENST00000395987.3_Missense_Mutation_p.S478F|CASC1_ENST00000395990.2_Missense_Mutation_p.S432F NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 472 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TGGTTTGTAGGATACATTGCT 0.363000 12 45 0 0 0.004007 0 0 ADAM28 10863 broad.mit.edu 37 8 24193082 24193082 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:24193082C>T ENST00000265769.4 + 14 1605 c.1495C>T c.(1495-1497)Cac>Tac p.H499Y RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.H266Y|ADAM28_ENST00000437154.2_Missense_Mutation_p.H499Y|ADAM28_ENST00000397649.3_Missense_Mutation_p.H246Y|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 499 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CCCTTGCCATCACGGGAAGGG 0.527000 10 18 0 0 0.008291 0 0 OSBPL9 114883 broad.mit.edu 37 1 52249660 52249660 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:52249660C>T ENST00000371710.3 + 18 1823 c.1641C>T c.(1639-1641)ttC>ttT p.F547F OSBPL9_ENST00000435686.2_Silent_p.F364F|OSBPL9_ENST00000428468.1_Silent_p.F529F|OSBPL9_ENST00000530544.1_Silent_p.F448F|OSBPL9_ENST00000371714.1_Silent_p.F516F|OSBPL9_ENST00000453295.1_Silent_p.F512F|OSBPL9_ENST00000337809.4_Silent_p.F534F|OSBPL9_ENST00000486942.1_Silent_p.F351F|OSBPL9_ENST00000447887.1_Silent_p.F539F|OSBPL9_ENST00000462759.1_Silent_p.F351F|OSBPL9_ENST00000531828.1_Silent_p.F364F|OSBPL9_ENST00000361556.5_Silent_p.F419F NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 529 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 AATCAAAATTCCTTGGGATGT 0.368000 16 53 0 0 0.007413 0 0 CA11 770 broad.mit.edu 37 19 49143141 49143141 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:49143141C>T ENST00000084798.4 - 5 1151 c.e5-1 SEC1P_ENST00000430145.2_RNA NM_001217.3 NP_001208.2 O75493 CAH11_HUMAN carbonic anhydrase XI extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 14 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) TGAGCTGCACCTGGGGGTAGC 0.597000 18 60 0 0 0.006122 0 0 AXDND1 126859 broad.mit.edu 37 1 179497516 179497516 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:179497516G>A ENST00000367618.3 + 23 3052 c.2665G>A c.(2665-2667)Gaa>Aaa p.E889K NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 889 Glu-rich. NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TGGAGAAGATGAAAATGTTCA 0.398000 17 27 0 0 0.006122 0 0 BRWD1 54014 broad.mit.edu 37 21 40574327 40574327 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:40574327A>G ENST00000342449.3 - 38 4587 c.4509T>C c.(4507-4509)ggT>ggC p.G1503G BRWD1_ENST00000380800.3_Silent_p.G1503G|BRWD1_ENST00000333229.2_Silent_p.G1503G NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CTGAAGAGTCACCAGAAGTAA 0.408000 15 44 0 0 0.004990 0 0 FAM170A 340069 broad.mit.edu 37 5 118970014 118970014 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:118970014G>A ENST00000515256.1 + 3 743 c.571G>A c.(571-573)Gag>Aag p.E191K A1A519 F170A_HUMAN family with sequence similarity 170, member A 191 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 CAGTGGGGAGGAGAAAGAGCA 0.562000 28 86 0 0 0.006320 0 0 ZNF646 9726 broad.mit.edu 37 16 31088662 31088662 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:31088662G>A ENST00000394979.2 + 1 1440 c.1017G>A c.(1015-1017)gaG>gaA p.E339E ZNF646_ENST00000300850.5_Silent_p.E339E O15015 ZN646_HUMAN zinc finger protein 646 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 ACACAGATGAGAGCAGCCAGG 0.632000 7 7 0 0 0.001984 0 0 GALNTL6 442117 broad.mit.edu 37 4 173852374 173852374 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:173852374G>A ENST00000506823.1 + 9 1761 c.1104G>A c.(1102-1104)agG>agA p.R368R GALNTL6_ENST00000508122.1_Silent_p.R351R NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 368 Catalytic subdomain B. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 ATATCTACAGGAAGTACGTTC 0.423000 10 103 0 0 0.008291 0 0 SETX 23064 broad.mit.edu 37 9 135156886 135156886 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:135156886G>A ENST00000372169.2 - 20 6804 c.6622C>T c.(6622-6624)Cct>Tct p.P2208S SETX_ENST00000224140.5_Missense_Mutation_p.P2208S|SETX_ENST00000393220.1_Missense_Mutation_p.P2208S Q7Z333 SETX_HUMAN senataxin 2208 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AGCTGCTTAGGATCTCCTACT 0.418000 33 33 0 0 0.004289 0 0 USP19 10869 broad.mit.edu 37 3 49148963 49148963 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:49148963G>C ENST00000453664.1 - 21 3469 c.3151C>G c.(3151-3153)Cca>Gca p.P1051A USP19_ENST00000398888.2_Missense_Mutation_p.P960A|USP19_ENST00000434032.2_Missense_Mutation_p.P1061A|USP19_ENST00000417901.1_Missense_Mutation_p.P1063A|USP19_ENST00000398892.3_Missense_Mutation_p.P1000A|USP19_ENST00000398896.1_Missense_Mutation_p.P768A|USP19_ENST00000398898.2_Missense_Mutation_p.P1000A NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 960 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCGCCAGCTGGCAAGGAGCCA 0.612000 15 38 0 0 0.002450 0 0 ARMC4 55130 broad.mit.edu 37 10 28229547 28229547 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:28229547G>A ENST00000305242.5 - 13 2023 c.1931C>T c.(1930-1932)tCt>tTt p.S644F ARMC4_ENST00000545014.1_Missense_Mutation_p.S169F|ARMC4_ENST00000537576.1_Missense_Mutation_p.S336F NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 644 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GTTTTCATGAGAAGTCTTCAG 0.512000 17 90 0 0 0.004007 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54922077 54922077 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:54922077C>T ENST00000293373.6 + 22 2501 c.2422C>T c.(2422-2424)Ctc>Ttc p.L808F NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L758F NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 808 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GACCATCATCCTCTCCCCAGC 0.547000 51 133 0 0 0.003610 0 0 DCP1A 55802 broad.mit.edu 37 3 53326711 53326711 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:53326711G>A ENST00000607628.1 - 7 880 c.771C>T c.(769-771)ttC>ttT p.F257F DCP1A_ENST00000294241.6_Silent_p.F257F|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Silent_p.F219F NM_018403.5 NP_060873.4 Q9NPI6 DCP1A_HUMAN decapping mRNA 1A 257 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) GAAATGGTAGGAATGAATTGG 0.522000 6 19 0 0 0.001168 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480684 140480684 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140480684G>A ENST00000231130.2 + 1 451 c.451G>A c.(451-453)Gta>Ata p.V151I AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 151 Cadherin 2. 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) GCCAGGAACAGTAATTCCTTT 0.433000 26 80 0 0 0.003330 0 0 MYH1 4619 broad.mit.edu 37 17 10400472 10400472 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10400472C>T ENST00000226207.5 - 33 4664 c.4570G>A c.(4570-4572)Gga>Aga p.G1524R CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1524 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ATGCGCTTTCCTCCTTCTGCA 0.363000 8 22 0 0 0.004482 0 0 FABP1 2168 broad.mit.edu 37 2 88425840 88425840 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:88425840C>T ENST00000393750.3 - 2 126 c.95G>A c.(94-96)gGg>gAg p.G32E FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.G32E P07148 FABPL_HUMAN fatty acid binding protein 1, liver 32 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 GATATCCTTCCCCTTCTGGAT 0.522000 65 141 0 0 0.003610 0 0 DEGS2 123099 broad.mit.edu 37 14 100615479 100615479 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:100615479G>A ENST00000305631.5 - 2 1226 c.651C>T c.(649-651)ttC>ttT p.F217F DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR NM_206918.2 NP_996801.2 Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 217 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) CCAGGCCCAGGAAGGAGCTGG 0.637000 25 70 0 0 0.003954 0 0 UTP20 27340 broad.mit.edu 37 12 101715375 101715375 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:101715375C>T ENST00000261637.4 + 25 3183 c.3009C>T c.(3007-3009)gcC>gcT p.A1003A NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1003 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TGAAAACAGCCCACCGAGCAG 0.333000 13 37 0 0 0.002450 0 0 BMPER 168667 broad.mit.edu 37 7 34091495 34091495 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:34091495C>T ENST00000297161.2 + 9 1073 c.699C>T c.(697-699)ctC>ctT p.L233L BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Silent_p.L233L NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 233 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TGTTTGACCTCCCTTTTGGGA 0.458000 43 93 0 0 0.003610 0 0 BCL6B 255877 broad.mit.edu 37 17 6930095 6930095 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:6930095C>T ENST00000293805.5 + 7 1218 c.1126C>T c.(1126-1128)Cgc>Tgc p.R376C NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 376 nucleus zinc ion binding skin(1) 1 AACGCACAGCCGCATCCATTC 0.572000 40 48 0 0 0.009718 0 0 PAPPA2 60676 broad.mit.edu 37 1 176659405 176659405 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:176659405C>T ENST00000367662.3 + 5 3434 c.2270C>T c.(2269-2271)cCc>cTc p.P757L PAPPA2_ENST00000367661.3_Missense_Mutation_p.P757L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 757 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGCAATGACCCCTGCAAGGAG 0.557000 39 68 0 0 0.009718 0 0 KPRP 448834 broad.mit.edu 37 1 152732718 152732718 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:152732718C>T ENST00000368773.1 + 2 712 c.654C>T c.(652-654)ttC>ttT p.F218F KPRP_ENST00000606109.1_Silent_p.F218F NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 218 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGCTGTTTCCCTCAGTATC 0.572000 20 114 0 0 0.002299 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945675 16945675 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:16945675G>A ENST00000412962.1 - 0 1844 TGCTGCCTAGGAAATGTGCCC 0.617000 17 223 0 0 0.002299 0 0 PHC3 80012 broad.mit.edu 37 3 169835174 169835174 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:169835174G>A ENST00000494943.1 - 10 2065 c.1997C>T c.(1996-1998)cCa>cTa p.P666L PHC3_ENST00000495893.1_Missense_Mutation_p.P678L|PHC3_ENST00000467570.1_Missense_Mutation_p.P625L Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 666 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) AAGTAACAATGGAGGTGGTGG 0.433000 16 34 0 0 0.003163 0 0 TRIM54 57159 broad.mit.edu 37 2 27521505 27521505 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:27521505C>T ENST00000296098.4 + 2 509 c.239C>T c.(238-240)tCg>tTg p.S80L TRIM54_ENST00000380075.2_Missense_Mutation_p.S80L NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 80 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCTGCCCATCGTGCAGGCAT 0.572000 11 37 0 0 0.000978 0 0 LSM14B 149986 broad.mit.edu 37 20 60705335 60705335 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:60705335C>T ENST00000279068.6 + 5 816 c.656C>T c.(655-657)cCt>cTt p.P219L LSM14B_ENST00000253001.4_Intron NM_144703.2 NP_653304.2 Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 219 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) AACAGAAGACCTCAGAGGAGG 0.547000 9 6 0 0 0.006214 0 0 POMT2 29954 broad.mit.edu 37 14 77765075 77765075 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:77765075G>A ENST00000261534.4 - 8 1165 c.963C>T c.(961-963)gcC>gcT p.A321A NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 321 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) CTGAAAGCCGGGCCTGGAAGG 0.532000 11 8 0 0 0.001368 0 0 CSMD2 114784 broad.mit.edu 37 1 33985490 33985490 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:33985490C>T ENST00000373381.4 - 69 10834 c.10658G>A c.(10657-10659)aGc>aAc p.S3553N NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3409 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCCACTGAGCTGCTGTTGGA 0.562000 9 33 0 0 0.006214 0 0 TINAG 27283 broad.mit.edu 37 6 54173538 54173538 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:54173538G>A ENST00000259782.4 + 1 286 c.190G>A c.(190-192)Gaa>Aaa p.E64K TINAG_ENST00000370869.3_Missense_Mutation_p.E60K|TINAG_ENST00000370864.3_Missense_Mutation_p.E46K|TINAG_ENST00000486436.1_3'UTR NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 64 SMB. cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TGGCTGTTGTGAAGACAGAGA 0.428000 46 108 0 0 0.003610 0 0 ZNF479 90827 broad.mit.edu 37 7 57200000 57200000 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:57200000C>T ENST00000331162.4 - 2 302 c.32G>A c.(31-33)cGa>cAa p.R11Q NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CACCATTTCTCGGCTTCCAGG 0.552000 16 45 0 0 0.004990 0 0 RBM23 55147 broad.mit.edu 37 14 23380554 23380554 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:23380554G>A ENST00000359890.3 - 2 244 c.49C>T c.(49-51)Ccc>Tcc p.P17S RBM23_ENST00000399922.2_Missense_Mutation_p.P17S|RBM23_ENST00000556984.1_5'UTR|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.P17S NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 17 mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) TTTTTATAGGGAGCTTCCAGC 0.368000 52 131 0 0 0.003610 0 0 AP1S3 130340 broad.mit.edu 37 2 224642566 224642566 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:224642566G>A ENST00000443700.1 - 2 175 c.24C>T c.(22-24)ttC>ttT p.F8F AP1S3_ENST00000423110.1_Silent_p.F8F|AP1S3_ENST00000396654.2_Silent_p.F8F|AP1S3_ENST00000446015.2_Silent_p.F8F|AP1S3_ENST00000396653.2_Silent_p.F8F|AP1S3_ENST00000409375.1_Silent_p.F8F Q96PC3 AP1S3_HUMAN adaptor-related protein complex 1, sigma 3 subunit 8 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat protein transporter activity p.F8L(1) NS(1)|breast(1)|lung(2) 4 Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272) Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902) CTTGTCGACTGAAGAGCAATA 0.408000 12 49 0 0 0.002450 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18721637 18721637 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:18721637C>T ENST00000380548.4 + 15 2319 c.1980C>T c.(1978-1980)tcC>tcT p.S660S ADAMTSL1_ENST00000276935.6_Silent_p.S660S NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 660 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TCCTGAAGTCCTGCAATTTGG 0.607000 22 27 0 0 0.001882 0 0 CPT1A 1374 broad.mit.edu 37 11 68548126 68548126 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:68548126G>A ENST00000265641.5 - 12 1594 c.1440C>T c.(1438-1440)atC>atT p.I480I CPT1A_ENST00000540367.1_Silent_p.I480I|CPT1A_ENST00000539743.1_Silent_p.I480I|CPT1A_ENST00000376618.2_Silent_p.I480I NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 480 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GGTGGGCCACGATCGGCGCAT 0.512000 18 36 0 0 0.008871 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100001349 100001349 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:100001349C>T ENST00000398027.2 - 15 1625 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E340K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E461K|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E340K NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 460 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) tccaactcttcctctttctcc 0.408000 7 35 0 0 0.001984 0 0 KCNK9 51305 broad.mit.edu 37 8 140630620 140630620 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:140630620C>T ENST00000520439.1 - 2 1069 c.1006G>A c.(1006-1008)Gag>Aag p.E336K KCNK9_ENST00000303015.1_Missense_Mutation_p.E336K Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 336 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GGTGAGATCTCCTCGATCTTG 0.552000 44 67 0 0 0.003214 0 0 ANK1 286 broad.mit.edu 37 8 41566302 41566302 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:41566302C>T ENST00000396942.1 - 17 2075 c.1992G>A c.(1990-1992)ggG>ggA p.G664G ANK1_ENST00000289734.7_Silent_p.G664G|ANK1_ENST00000265709.8_Silent_p.G697G|ANK1_ENST00000352337.4_Silent_p.G664G|ANK1_ENST00000347528.4_Silent_p.G664G|ANK1_ENST00000379758.2_Silent_p.G664G|ANK1_ENST00000396945.1_Silent_p.G664G P16157 ANK1_HUMAN ankyrin 1, erythrocytic 664 89 kDa domain. 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 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) CTACCTTGTTCCCCAGGTTGC 0.567000 38 90 0 0 0.009718 0 0 WDR49 151790 broad.mit.edu 37 3 167322214 167322214 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:167322214G>A ENST00000453925.2 - 2 171 c.137C>T c.(136-138)aCc>aTc p.T46I WDR49_ENST00000479765.1_Missense_Mutation_p.T334I|WDR49_ENST00000308378.3_5'UTR Q8IV35 WDR49_HUMAN WD repeat domain 49 168 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 TGTATTGCTGGTTGTACTGGA 0.338000 10 19 0 0 0.006214 0 0 FGR 2268 broad.mit.edu 37 1 27942117 27942117 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:27942117C>T ENST00000374005.3 - 9 1134 c.846G>A c.(844-846)tgG>tgA p.W282* FGR_ENST00000399173.1_Nonsense_Mutation_p.W282*|FGR_ENST00000374004.1_Nonsense_Mutation_p.W282*|FGR_ENST00000545953.1_Nonsense_Mutation_p.W216* NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 282 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGCTGCCGTTCCACGTGCCTG 0.687000 10 8 0 0 0.000978 0 0 TIMP3 7078 broad.mit.edu 37 22 33253286 33253286 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:33253286A>T ENST00000266085.6 + 3 556 c.255A>T c.(253-255)gaA>gaT p.E85D SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron NM_000362.4 NP_000353.1 P35625 TIMP3_HUMAN TIMP metallopeptidase inhibitor 3 85 NTR. negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1) 7 TCCATACGGAAGCTTCCGAGA 0.517000 23 67 0 0 0.005443 0 0 TENM4 26011 broad.mit.edu 37 11 78383099 78383099 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:78383099C>T ENST00000278550.7 - 31 6234 c.5772G>A c.(5770-5772)tgG>tgA p.W1924* NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 ATGTGTAGCTCCATGTCTTCC 0.547000 14 15 0 0 0.003163 0 0 OR11H12 440153 broad.mit.edu 37 14 19378561 19378561 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:19378561C>T ENST00000550708.1 + 1 1040 c.968C>T c.(967-969)tCc>tTc p.S323F NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGGAAGTTCCAACATAATC 0.358000 55 102 0 0 0.003610 0 0 CD200R1 131450 broad.mit.edu 37 3 112648329 112648329 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:112648329C>T ENST00000471858.1 - 3 391 c.159G>A c.(157-159)atG>atA p.M53I CD200R1_ENST00000295863.4_Missense_Mutation_p.M31I|CD200R1_ENST00000490004.1_Missense_Mutation_p.M53I|CD200R1_ENST00000440122.2_Missense_Mutation_p.M76I|CD200R1_ENST00000308611.3_Missense_Mutation_p.M76I NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 53 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 CATTTGTAGCCATCTTTACAG 0.373000 21 38 0 0 0.001882 0 0 ENTPD3 956 broad.mit.edu 37 3 40457388 40457388 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:40457388G>T ENST00000301825.3 + 7 773 c.655G>T c.(655-657)Gac>Tac p.D219Y ENTPD3_ENST00000456402.1_Missense_Mutation_p.D219Y|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.D219Y NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 219 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GGGTGCCCTGGACTTAGGTGG 0.537000 10 36 6.40141e-05 7.36174e-05 0.000978 1 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818931 159818931 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:159818931G>A ENST00000497452.1 - 0 517 ACCGGGTGGAGAATGAGGCAG 0.483000 39 114 0 0 0.006999 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49327652 49327652 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:49327652G>A ENST00000559471.1 - 3 670 c.407C>T c.(406-408)gCt>gTt p.A136V SECISBP2L_ENST00000261847.3_Missense_Mutation_p.A136V NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 136 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 AGTATTTGCAGCCTGAAAGGT 0.458000 10 58 0 0 0.008291 0 0 TUBBP1 92755 broad.mit.edu 37 8 30210670 30210670 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:30210670G>A ENST00000518096.1 + 0 1282 GCACATCTCGGAGCAGTTCAC 0.577000 12 47 0 0 0.002450 0 0 WFDC6 140870 broad.mit.edu 37 20 44167995 44167995 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:44167995C>T ENST00000600168.1 - 1 139 c.52G>A c.(52-54)Gac>Aac p.D18N WFDC6_ENST00000372670.3_Missense_Mutation_p.D18N|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000555685.1_Intron WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) TCCTGGATGTCCCCCAAAAGG 0.517000 48 77 0 0 0.003610 0 0 FAM91A1 157769 broad.mit.edu 37 8 124797890 124797890 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:124797890C>T ENST00000334705.7 + 11 1117 c.871C>T c.(871-873)Cga>Tga p.R291* FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.R291* NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 291 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) AATGTATTGCCGATTGGGCTT 0.308000 19 51 0 0 0.003330 0 0 HTT 3064 broad.mit.edu 37 4 3109019 3109019 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:3109019C>T ENST00000355072.5 + 6 761 c.616C>T c.(616-618)Ctg>Ttg p.L206L NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 206 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CAGGCCTTACCTGGTGAACCT 0.473000 11 51 0 0 0.001368 0 0 TIAM1 7074 broad.mit.edu 37 21 32567601 32567601 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:32567601G>A ENST00000286827.3 - 14 2985 c.2514C>T c.(2512-2514)atC>atT p.I838I TIAM1_ENST00000541036.1_Silent_p.I778I NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 838 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTTTTGGACAGATTTCAATTT 0.303000 12 31 0 0 0.001855 0 0 TNR 7143 broad.mit.edu 37 1 175306816 175306816 + Splice_Site SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:175306816C>G ENST00000367674.1 - 19 4091 c.e19-1 TNR_ENST00000263525.2_Splice_Site NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACCCGGCCTCCTGCAAGGAAA 0.502000 6 18 0 0 0.001168 0 0 PPID 5481 broad.mit.edu 37 4 159638288 159638288 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:159638288A>G ENST00000307720.3 - 4 505 c.398T>C c.(397-399)tTt>tCt p.F133S NM_005038.2 NP_005029.1 Q08752 PPID_HUMAN peptidylprolyl isomerase D 133 PPIase cyclophilin-type. protein folding cytoplasm|intermediate filament cytoskeleton cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0159) TGTTGTGATAAAAAACTGAGA 0.403000 17 34 0 0 0.004990 0 0 NCOR1 9611 broad.mit.edu 37 17 16068451 16068451 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:16068451C>T ENST00000268712.3 - 5 717 c.460G>A c.(460-462)Gaa>Aaa p.E154K NCOR1_ENST00000395848.1_Missense_Mutation_p.E45K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E154K NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 154 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GATGGAGCTTCATGTTTGCCT 0.388000 18 162 0 0 0.002299 0 0 PTER 9317 broad.mit.edu 37 10 16526508 16526508 + Missense_Mutation SNP C C T rs141767754 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:16526508C>T ENST00000378000.1 + 3 371 c.125C>T c.(124-126)cCg>cTg p.P42L PTER_ENST00000423462.2_Missense_Mutation_p.P42L|PTER_ENST00000298942.3_Missense_Mutation_p.P42L|PTER_ENST00000535784.2_Missense_Mutation_p.P42L NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 42 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 CCACCTCCCCCGTGCCAGGAA 0.453000 18 65 0 0 0.006122 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481409 140481409 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140481409C>T ENST00000231130.2 + 1 1176 c.1176C>T c.(1174-1176)ttC>ttT p.F392F AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 392 Cadherin 4. 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) TCCCCTTCTTCCTGAAACCAT 0.468000 19 50 0 0 0.008871 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52002469 52002469 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:52002469G>A ENST00000291707.3 - 4 1145 c.1090C>T c.(1090-1092)Cct>Tct p.P364S SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P246S NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 364 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TTCTGAGGAGGATCTGGAACA 0.562000 17 45 0 0 0.008871 0 0 SLC18A1 6570 broad.mit.edu 37 8 20028949 20028949 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:20028949G>A ENST00000440926.1 - 8 1251 c.781C>T c.(781-783)Ctc>Ttc p.L261F SLC18A1_ENST00000276373.5_Missense_Mutation_p.L261F|SLC18A1_ENST00000519026.1_Missense_Mutation_p.L261F|SLC18A1_ENST00000381608.4_Missense_Mutation_p.L261F|SLC18A1_ENST00000437980.1_Missense_Mutation_p.L261F|SLC18A1_ENST00000265808.7_Missense_Mutation_p.L261F|SLC18A1_ENST00000524272.1_5'UTR NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 261 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) GCCAGGATGAGGAAGGGTGCA 0.532000 21 101 0 0 0.003330 0 0 FCGBP 8857 broad.mit.edu 37 19 40434209 40434209 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:40434209C>T ENST00000221347.6 - 2 67 c.60G>A c.(58-60)ttG>ttA p.L20L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 20 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCTCCTGGGTCAATCCTGGTT 0.507000 10 40 0 0 0.008291 0 0 HMGN2P46 283651 broad.mit.edu 37 15 45848181 45848181 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:45848181G>A ENST00000409454.1 + 0 1176 TGTACAGTTTGAAATACTATT 0.318000 13 18 0 0 0.001855 0 0 FAT4 79633 broad.mit.edu 37 4 126239997 126239997 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:126239997C>T ENST00000394329.3 + 1 2444 c.2431C>T c.(2431-2433)Cat>Tat p.H811Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 811 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCTGGGATATCATGTGGGTAG 0.443000 15 76 0 0 0.006122 0 0 KIAA0408 9729 broad.mit.edu 37 6 127771437 127771437 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:127771437C>T ENST00000483725.3 - 3 532 c.196G>A c.(196-198)Gat>Aat p.D66N SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000368268.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 66 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TGGTAAAGATCAATGATCTTA 0.353000 16 36 0 0 0.003163 0 0 BNC1 646 broad.mit.edu 37 15 83933168 83933168 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:83933168C>T ENST00000345382.2 - 4 920 c.835G>A c.(835-837)Gaa>Aaa p.E279K BNC1_ENST00000569704.1_Missense_Mutation_p.E272K|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 279 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CCATGGACTTCCTGTTTGGGG 0.478000 84 46 0 0 0.003610 0 0 CDH10 1008 broad.mit.edu 37 5 24491745 24491745 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:24491745G>A ENST00000264463.4 - 11 2323 c.1816C>T c.(1816-1818)Cct>Tct p.P606S CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 606 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGGCCGGCAGGGAGGAGCAGG 0.527000 HNSCC(23;0.051) 24 73 0 0 0.004656 0 0 MYLK4 340156 broad.mit.edu 37 6 2675297 2675297 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:2675297G>A ENST00000274643.7 - 11 1445 c.1103C>T c.(1102-1104)tCc>tTc p.S368F MYLK4_ENST00000268446.5_Missense_Mutation_p.S368F NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 368 ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) ATTGAGTCTGGAGTGGAGCTT 0.473000 40 92 0 0 0.003610 0 0 DVL1 1855 broad.mit.edu 37 1 1273686 1273686 + Silent SNP G G A rs149343423 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:1273686G>A ENST00000378888.5 - 13 1754 c.1470C>T c.(1468-1470)tcC>tcT p.S490S DVL1_ENST00000378891.5_Silent_p.S465S O14640 DVL1_HUMAN dishevelled segment polarity protein 1 490 DEP. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGCACTGCTCGGAGAAGGTGA 0.672000 15 22 0 0 0.007413 0 0 PLCE1 51196 broad.mit.edu 37 10 96081675 96081675 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:96081675C>T ENST00000260766.3 + 30 6994 c.6360C>T c.(6358-6360)aaC>aaT p.N2120N PLCE1_ENST00000371380.2_Silent_p.N2120N|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Silent_p.N1812N|PLCE1_ENST00000371385.3_Silent_p.N1812N NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 2120 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AAGAGAAAAACATTGTTCAAG 0.358000 10 10 0 0 0.006214 0 0 SDPR 8436 broad.mit.edu 37 2 192711221 192711221 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:192711221T>G ENST00000304141.4 - 1 760 c.431A>C c.(430-432)aAc>aCc p.N144T NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 144 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GGCGTGGTTGTTCTCCAGCCG 0.597000 16 23 0 0 0.004007 0 0 IGSF21 84966 broad.mit.edu 37 1 18691906 18691906 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:18691906G>A ENST00000251296.1 + 6 1113 c.730G>A c.(730-732)Gag>Aag p.E244K NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 244 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ACCCTACACGGAGCGCCCCTC 0.637000 30 80 0 0 0.009535 0 0 LOC401127 401127 broad.mit.edu 37 4 39482269 39482269 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:39482269C>T ENST00000513652.1 + 0 395 GAAATTCAGCCCGAATGGAGA 0.493000 29 28 0 0 0.002445 0 0 FAM213A 84293 broad.mit.edu 37 10 82187231 82187231 + Silent SNP C C T rs150904688 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:82187231C>T ENST00000372181.1 + 4 1025 c.555C>T c.(553-555)ttC>ttT p.F185F FAM213A_ENST00000372187.5_Silent_p.F185F|FAM213A_ENST00000372185.1_Silent_p.F174F|FAM213A_ENST00000372188.1_Silent_p.F185F NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 185 extracellular region GGGGAGTTTTCGTGGTGGGAT 0.522000 16 28 0 0 0.007413 0 0 UNC45A 55898 broad.mit.edu 37 15 91496169 91496169 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:91496169C>T ENST00000394275.2 + 21 3104 c.2269C>T c.(2269-2271)Ctg>Ttg p.L757L AC068831.6_ENST00000553321.1_RNA|UNC45A_ENST00000418476.2_Silent_p.L772L NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 772 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCAGAAGATCCTGAAGGAGAA 0.522000 284 247 0 0 0.003610 0 0 NAV1 89796 broad.mit.edu 37 1 201751934 201751934 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:201751934C>T ENST00000367296.4 + 6 2714 c.2294C>T c.(2293-2295)cCc>cTc p.P765L NAV1_ENST00000367302.1_Missense_Mutation_p.P778L|NAV1_ENST00000295624.6_Missense_Mutation_p.P765L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.P765L|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.P765L|NAV1_ENST00000367295.1_Missense_Mutation_p.P374L NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 765 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GAAAGTACTCCCAAGAACCAA 0.557000 7 37 0 0 0.001984 0 0 PCK1 5105 broad.mit.edu 37 20 56140833 56140833 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:56140833C>T ENST00000319441.4 + 10 2006 c.1842C>T c.(1840-1842)gcC>gcT p.A614A PCK1_ENST00000543666.1_Silent_p.A297A NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 614 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) AGATCCTTGCCTTGAAGCAAA 0.478000 12 39 0 0 0.001368 0 0 FYCO1 79443 broad.mit.edu 37 3 46008470 46008470 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:46008470G>A ENST00000296137.2 - 8 2561 c.2356C>T c.(2356-2358)Caa>Taa p.Q786* FYCO1_ENST00000535325.1_Nonsense_Mutation_p.Q786* NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 786 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TGCAGCCGTTGGACCTCCCCC 0.642000 23 42 0 0 0.003954 0 0 IGSF10 285313 broad.mit.edu 37 3 151176400 151176400 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:151176400C>G ENST00000282466.3 - 1 97 c.98G>C c.(97-99)tGt>tCt p.C33S 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 33 LRRNT. 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) ATAACAGGCACAGCGGCGAGG 0.557000 13 37 0 0 0.003163 0 0 PRKY 5616 broad.mit.edu 37 Y 7224202 7224202 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrY:7224202C>T ENST00000528056.1 + 0 1087 NR_028062.1 large_intestine(2)|lung(3)|skin(1) 6 GATGACAACCCGTTTGGCATT 0.373000 6 5 0 0 0.001984 0 0 SYNRG 11276 broad.mit.edu 37 17 35928907 35928907 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:35928907G>A ENST00000339208.6 - 11 1607 c.1467C>T c.(1465-1467)tcC>tcT p.S489S SYNRG_ENST00000346661.4_Silent_p.S489S|SYNRG_ENST00000394378.2_Silent_p.S411S|SYNRG_ENST00000345615.4_Silent_p.S411S|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Silent_p.S411S|SYNRG_ENST00000591288.1_Silent_p.S328S|SYNRG_ENST00000585472.1_Silent_p.S410S NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 489 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TTCCATGCTGGGAGTTACTTG 0.368000 12 63 0 0 0.000978 0 0 MYH2 4620 broad.mit.edu 37 17 10441041 10441041 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10441041C>T ENST00000245503.5 - 15 1912 c.1528G>A c.(1528-1530)Gag>Aag p.E510K MYH2_ENST00000397183.2_Missense_Mutation_p.E510K|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.E510K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 510 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AACGTCCACTCGATGCCTTCC 0.493000 41 62 0 0 0.008740 0 0 APBB3 10307 broad.mit.edu 37 5 139941205 139941205 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:139941205G>A ENST00000357560.4 - 8 1157 c.714C>T c.(712-714)gcC>gcT p.A238A APBB3_ENST00000354402.5_Silent_p.A245A|APBB3_ENST00000511201.2_Silent_p.A236A|APBB3_ENST00000356738.2_Silent_p.A243A|APBB3_ENST00000508496.2_Silent_p.A15A|APBB3_ENST00000412920.3_Silent_p.A236A|APBB3_ENST00000358580.5_Silent_p.A238A NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 238 PID 1. actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTGGCAATGGCCTTGGCAG 0.547000 32 102 0 0 0.009535 0 0 SDPR 8436 broad.mit.edu 37 2 192701240 192701240 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:192701240C>T ENST00000304141.4 - 2 1016 c.687G>A c.(685-687)gaG>gaA p.E229E NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 229 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TTTTTATTTTCTCTGCCCTAC 0.493000 72 112 0 0 0.003610 0 0 ZNF433 163059 broad.mit.edu 37 19 12126465 12126465 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:12126465G>A ENST00000419886.2 - 5 1403 c.1112C>T c.(1111-1113)tCc>tTc p.S371F ZNF433_ENST00000344980.6_Missense_Mutation_p.S406F|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 GAAGGAACTGGAAGAATTAAA 0.408000 30 60 0 0 0.008361 0 0 TRPC7 57113 broad.mit.edu 37 5 135693021 135693021 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:135693021C>T ENST00000513104.1 - 2 337 c.55G>A c.(55-57)Gag>Aag p.E19K TRPC7_ENST00000426057.2_Missense_Mutation_p.E19K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E19K NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 19 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CGGCCCTTCTCCCTCAGCGTT 0.597000 27 56 0 0 0.005443 0 0 SPON1 10418 broad.mit.edu 37 11 14157038 14157038 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:14157038G>A ENST00000310358.7 + 0 1284 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GAATATGGAGGATATGCCAGC 0.478000 41 73 0 0 0.007835 0 0 CEP290 80184 broad.mit.edu 37 12 88472896 88472896 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:88472896G>A ENST00000552810.1 - 39 5680 c.5337C>T c.(5335-5337)atC>atT p.I1779I CEP290_ENST00000547691.2_Silent_p.I839I|CEP290_ENST00000309041.7_Silent_p.I1781I|CEP290_ENST00000397838.3_Silent_p.I839I NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1779 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 GTCGATCAACGATTTGTTGAA 0.378000 12 11 0 0 0.001855 0 0 USP1 7398 broad.mit.edu 37 1 62910551 62910551 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:62910551G>A ENST00000339950.4 + 6 1515 c.700G>A c.(700-702)Gaa>Aaa p.E234K USP1_ENST00000371146.1_Missense_Mutation_p.E234K NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 234 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) TACTAAGGTAGAAGAAATACC 0.353000 34 55 0 0 0.004289 0 0 BMP6 654 broad.mit.edu 37 6 7845444 7845444 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:7845444C>T ENST00000283147.6 + 2 895 c.736C>T c.(736-738)Cct>Tct p.P246S NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 246 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) ATCCCAGATTCCTGAGGGTGA 0.433000 32 81 0 0 0.002836 0 0 MED13L 23389 broad.mit.edu 37 12 116429468 116429468 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:116429468G>A ENST00000281928.3 - 17 3497 c.3291C>T c.(3289-3291)ccC>ccT p.P1097P NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1097 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GCATGGTGGCGGGCTCCACAG 0.522000 14 19 0 0 0.001855 0 0 SLC35A4 113829 broad.mit.edu 37 5 139947248 139947248 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:139947248G>A ENST00000514199.1 + 2 2180 c.494G>A c.(493-495)gGg>gAg p.G165E SLC35A4_ENST00000323146.3_Missense_Mutation_p.G165E|APBB3_ENST00000507279.1_Intron Q96G79 S35A4_HUMAN solute carrier family 35, member A4 165 Leu-rich. Golgi membrane|integral to membrane sugar:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGTTCCCGGGAACACCCTT 0.647000 16 32 0 0 0.004007 0 0 ZNF157 7712 broad.mit.edu 37 X 47272784 47272784 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:47272784G>A ENST00000377073.3 + 4 1398 c.1312G>A c.(1312-1314)Gga>Aga p.G438R NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 438 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 AACTCACACAGGAGAGAAACC 0.428000 13 2 0 0 0.001855 0 0 TECRL 253017 broad.mit.edu 37 4 65147237 65147237 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:65147237G>A ENST00000381210.3 - 10 983 c.873C>T c.(871-873)ttC>ttT p.F291F TECRL_ENST00000507440.1_Silent_p.F291F NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 291 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 ACATCCATGTGAAGGGGTTAT 0.338000 16 22 0 0 0.006122 0 0 TPO 7173 broad.mit.edu 37 2 1460037 1460037 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:1460037C>T ENST00000345913.4 + 7 893 c.802C>T c.(802-804)Cca>Tca p.P268S TPO_ENST00000346956.3_Missense_Mutation_p.P268S|TPO_ENST00000337415.3_Missense_Mutation_p.P268S|TPO_ENST00000349624.3_Missense_Mutation_p.P268S|TPO_ENST00000382198.1_Missense_Mutation_p.P268S|TPO_ENST00000329066.4_Missense_Mutation_p.P268S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.P268S NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 268 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.P268A(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GAACCAAAACCCATGTTTTCC 0.418000 19 32 0 0 0.008871 0 0 ZNF251 90987 broad.mit.edu 37 8 145948186 145948186 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:145948186G>A ENST00000292562.7 - 5 1134 c.859C>T c.(859-861)Cac>Tac p.H287Y ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TCTCCAGTGTGAATTCTCCGA 0.433000 15 41 0 0 0.004007 0 0 MADD 8567 broad.mit.edu 37 11 47306552 47306552 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:47306552C>T ENST00000342922.4 + 13 2575 c.2218C>T c.(2218-2220)Cct>Tct p.P740S MADD_ENST00000349238.3_Missense_Mutation_p.P740S|MADD_ENST00000395336.3_Missense_Mutation_p.P740S|MADD_ENST00000407859.3_Missense_Mutation_p.P740S|MADD_ENST00000395344.3_Missense_Mutation_p.P740S|MADD_ENST00000406482.1_Missense_Mutation_p.P740S|MADD_ENST00000311027.5_Missense_Mutation_p.P740S|MADD_ENST00000402799.1_Missense_Mutation_p.P740S|MADD_ENST00000402192.2_Missense_Mutation_p.P740S NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 740 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity p.P740S(1)|p.P740F(1) breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CAAGCCCCTCCCTTCCGTGCC 0.537000 33 65 0 0 0.002096 0 0 DOK7 285489 broad.mit.edu 37 4 3478185 3478185 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:3478185G>A ENST00000340083.5 + 4 513 c.448G>A c.(448-450)Ggg>Agg p.G150R DOK7_ENST00000389653.2_Missense_Mutation_p.G150R|DOK7_ENST00000507039.1_Missense_Mutation_p.G150R NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 150 IRS-type PTB. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCTGTCACGGGGCAGTGGAA 0.627000 13 66 0 0 0.003163 0 0 C2orf53 339779 broad.mit.edu 37 2 27360391 27360391 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:27360391C>T ENST00000335524.3 - 3 1332 c.807G>A c.(805-807)agG>agA p.R269R NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 269 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) GGGGTCCAGTCCTGTACCTGG 0.667000 23 33 0 0 0.002780 0 0 TRIM54 57159 broad.mit.edu 37 2 27505700 27505700 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:27505700C>T ENST00000296098.4 + 1 371 c.101C>T c.(100-102)tCc>tTc p.S34F TRIM54_ENST00000380075.2_Missense_Mutation_p.S34F NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 34 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGATGTTCTCCAAACCAGTG 0.577000 70 158 0 0 0.003610 0 0 ZNF831 128611 broad.mit.edu 37 20 57767358 57767358 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:57767358G>A ENST00000371030.2 + 1 1284 c.1284G>A c.(1282-1284)cgG>cgA p.R428R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 428 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ACAACGTGCGGCCCCGGAAGA 0.657000 7 25 0 0 0.003080 0 0 GJA10 84694 broad.mit.edu 37 6 90604323 90604323 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:90604323G>A ENST00000369352.1 + 1 136 c.136G>A c.(136-138)Gat>Aat p.D46N NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 46 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GGATGTCTGGGATGATGAACA 0.493000 20 40 0 0 0.008871 0 0 CXCR2P1 3580 broad.mit.edu 37 2 218925401 218925401 + RNA SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:218925401C>G ENST00000439871.1 - 0 979 NR_002712.1 CCCACATGGTCCAGTGCTTCT 0.552000 15 48 0 0 0.004007 0 0 CYP39A1 51302 broad.mit.edu 37 6 46604199 46604199 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:46604199T>G ENST00000275016.2 - 5 862 c.659A>C c.(658-660)aAg>aCg p.K220T NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 220 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 CAGGAACCACTTTTTGGATTT 0.313000 28 29 0 0 0.002445 0 0 NDST4 64579 broad.mit.edu 37 4 115754843 115754843 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:115754843C>T ENST00000264363.2 - 12 2993 c.2315G>A c.(2314-2316)aGa>aAa p.R772K NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 772 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TGGGTCAGATCTCAGCTGCTG 0.383000 6 26 0 0 0.003080 0 0 GNL1 2794 broad.mit.edu 37 6 30521151 30521151 + Missense_Mutation SNP G G A rs139361425 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:30521151G>A ENST00000376621.3 - 6 1754 c.784C>T c.(784-786)Cgc>Tgc p.R262C NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 262 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TGTGGGGTGCGGGGGTCCCGA 0.567000 51 116 0 0 0.003610 0 0 CWH43 80157 broad.mit.edu 37 4 49005875 49005875 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:49005875G>A ENST00000226432.4 + 7 1109 c.926G>A c.(925-927)gGg>gAg p.G309E CWH43_ENST00000513409.1_Missense_Mutation_p.G282E NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 309 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 ATTAACTCAGGGACAAACCCT 0.463000 8 46 0 0 0.003080 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215791 140215791 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140215791C>T ENST00000525929.1 + 1 1823 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PCDHA7_ENST00000378125.3_Missense_Mutation_p.S608L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGCTTTCGTATGAGTTG 0.637000 26 53 0 0 0.003330 0 0 RPL32 6161 broad.mit.edu 37 3 12881705 12881705 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:12881705T>C ENST00000429711.2 - 2 131 c.32A>G c.(31-33)aAg>aGg p.K11R RPL32_ENST00000435983.1_Missense_Mutation_p.K11R|RPL32_ENST00000396953.2_Missense_Mutation_p.K11R|RPL32_ENST00000396957.1_Missense_Mutation_p.K11R|RPL32_ENST00000273223.6_Missense_Mutation_p.K11R NM_000994.3 NP_000985.1 P62910 RL32_HUMAN ribosomal protein L32 11 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 TTTGACGATCTTGGGCTTCAC 0.537000 60 135 0 0 0.003610 0 0 GPATCH2 55105 broad.mit.edu 37 1 217784405 217784405 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:217784405C>T ENST00000366935.3 - 4 954 c.844G>A c.(844-846)Gaa>Aaa p.E282K GPATCH2_ENST00000366934.3_Missense_Mutation_p.E282K NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 282 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) TCACTCTGTTCATCATCACCT 0.433000 28 42 0 0 0.007291 0 0 GLI2 2736 broad.mit.edu 37 2 121745958 121745958 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:121745958C>T ENST00000452319.1 + 14 2528 c.2468C>T c.(2467-2469)tCc>tTc p.S823F GLI2_ENST00000361492.4_Missense_Mutation_p.S823F|GLI2_ENST00000314490.11_Missense_Mutation_p.S495F P10070 GLI2_HUMAN GLI family zinc finger 2 823 Ser-rich. axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) AGCCGCCGCTCCTCCGGCATC 0.721000 3 5 0 0 0.004672 0 0 LIFR 3977 broad.mit.edu 37 5 38506159 38506159 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:38506159A>G ENST00000263409.4 - 9 1301 c.1139T>C c.(1138-1140)gTt>gCt p.V380A LIFR_ENST00000453190.2_Missense_Mutation_p.V380A|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 380 Fibronectin type-III 2. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TTTAAGTCTAACATATTTTCC 0.274000 T PLAG1 salivary adenoma 12 35 0 0 0.000978 0 0 SLC5A5 6528 broad.mit.edu 37 19 18001774 18001774 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:18001774G>A ENST00000222248.3 + 14 2078 c.1731G>A c.(1729-1731)aaG>aaA p.K577K NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 577 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TGGCCCCCAAGGAAGAAGTGG 0.602000 24 69 0 0 0.003954 0 0 TRBV2 28620 broad.mit.edu 37 7 142001050 142001050 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:142001050C>T ENST00000455382.2 + 0 216 CATCTCTAATCACTTATACTT 0.433000 18 13 0 0 0.006122 0 0 TRIM10 10107 broad.mit.edu 37 6 30121774 30121774 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:30121774C>T ENST00000449742.2 - 7 1493 c.1418G>A c.(1417-1419)cGa>cAa p.R473Q TRIM10_ENST00000376704.3_Intron NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 473 B30.2/SPRY. cytoplasm zinc ion binding p.R473Q(1) ovary(1) 1 ACTGGACCCTCGGCCCCAGAG 0.547000 22 59 0 0 0.002780 0 0 SH2D3C 10044 broad.mit.edu 37 9 130513528 130513528 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:130513528C>T ENST00000314830.8 - 4 720 c.607G>A c.(607-609)Gaa>Aaa p.E203K SH2D3C_ENST00000373276.3_Missense_Mutation_p.E135K|SH2D3C_ENST00000373277.4_Missense_Mutation_p.E46K|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373274.3_Missense_Mutation_p.E43K|SH2D3C_ENST00000420366.1_Missense_Mutation_p.E45K NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 203 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCCTCCAATTCCTTGTGGAGT 0.542000 32 46 0 0 0.009535 0 0 TTN 7273 broad.mit.edu 37 2 179584810 179584810 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179584810G>A ENST00000589042.1 - 81 23783 c.23559C>T c.(23557-23559)ctC>ctT p.L7853L TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L6609L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L7536L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7536 Ig-like 61. 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) TCCCCAGCTGGAGGGTTGCAA 0.418000 22 57 0 0 0.001882 0 0 EFR3A 23167 broad.mit.edu 37 8 132991232 132991232 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:132991232C>T ENST00000254624.5 + 13 1690 c.1465C>T c.(1465-1467)Cgt>Tgt p.R489C EFR3A_ENST00000519656.1_Missense_Mutation_p.R453C|EFR3A_ENST00000334503.4_Missense_Mutation_p.R489C NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 489 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TCTCATGGATCGTCATGACAA 0.393000 43 108 0 0 0.003214 0 0 CREB3L4 148327 broad.mit.edu 37 1 153945263 153945263 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:153945263T>C ENST00000368607.3 + 5 853 c.587T>C c.(586-588)cTg>cCg p.L196P CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368601.1_Missense_Mutation_p.L196P|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L196P|CREB3L4_ENST00000405694.3_Missense_Mutation_p.L49P|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L176P|CREB3L4_ENST00000368603.1_Missense_Mutation_p.L196P NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 196 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GAGAAGCGTCTGCTGGGGCAG 0.597000 9 5 0 0 0.004482 0 0 MYH1 4619 broad.mit.edu 37 17 10398572 10398572 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10398572C>T ENST00000226207.5 - 36 5326 c.5232G>A c.(5230-5232)gaG>gaA p.E1744E CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1744 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGTCTTCCATCTCTCCCTGGA 0.443000 54 70 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13920635 13920635 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13920635C>T ENST00000265104.4 - 6 856 c.752G>A c.(751-753)gGa>gAa p.G251E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 251 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTCTATTTTTCCCAAAGTCTC 0.393000 Kartagener syndrome 37 84 0 0 0.006230 0 0 FGA 2243 broad.mit.edu 37 4 155507418 155507418 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:155507418G>A ENST00000302053.3 - 5 1241 c.1163C>T c.(1162-1164)tCt>tTt p.S388F FGA_ENST00000403106.3_Missense_Mutation_p.S388F NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 388 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCCAGATTCAGAGTGCCATTG 0.537000 23 57 0 0 0.002299 0 0 TRPM7 54822 broad.mit.edu 37 15 50867312 50867312 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:50867312G>A ENST00000313478.7 - 34 5037 c.4756C>T c.(4756-4758)Cgt>Tgt p.R1586C TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.R1585C NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1586 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TCTTCCAAACGATACACTGTG 0.363000 12 31 0 0 0.001855 0 0 ZPBP 11055 broad.mit.edu 37 7 49977183 49977183 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:49977183C>T ENST00000046087.2 - 8 1066 c.997G>A c.(997-999)Gga>Aga p.G333R ZPBP_ENST00000419417.1_Missense_Mutation_p.G332R|ZPBP_ENST00000491129.1_Intron NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 333 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) CAATGAATTCCATCACGGGGG 0.353000 26 84 0 0 0.002836 0 0 IKZF1 10320 broad.mit.edu 37 7 50450384 50450384 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:50450384G>A ENST00000331340.3 + 5 723 c.568G>A c.(568-570)Ggc>Agc p.G190S IKZF1_ENST00000359197.5_Missense_Mutation_p.G190S|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G190S|IKZF1_ENST00000343574.5_Missense_Mutation_p.G103S|IKZF1_ENST00000440768.2_Missense_Mutation_p.G190S|IKZF1_ENST00000439701.1_Missense_Mutation_p.G190S|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.G103S NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 190 Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CGCCCTCACTGGCCACCTGAG 0.657000 """D,T""" BCL6 """ALL, DLBCL""" 4 11 0 0 0.001168 0 0 PRSS42 339906 broad.mit.edu 37 3 46873503 46873503 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:46873503G>A ENST00000429665.1 - 4 654 c.655C>T c.(655-657)Ctt>Ttt p.L219F PRSS42_ENST00000447340.1_Intron NM_182702.1 NP_874361.1 Q7Z5A4 PRS42_HUMAN protease, serine, 42 219 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 8 ACATCCTGAAGAATTTCTGAT 0.413000 14 32 0 0 0.002450 0 0 SLC44A5 204962 broad.mit.edu 37 1 75672311 75672311 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:75672311G>A ENST00000370855.5 - 24 2254 c.2141C>T c.(2140-2142)cCc>cTc p.P714L SLC44A5_ENST00000370859.3_Intron|SLC44A5_ENST00000535611.1_Missense_Mutation_p.P584L NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 714 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CTGCTTCTGGGGAACTAGTTG 0.373000 33 68 0 0 0.004878 0 0 OR5H14 403273 broad.mit.edu 37 3 97868450 97868450 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:97868450C>T ENST00000437310.1 + 1 281 c.221C>T c.(220-222)tCa>tTa p.S74L NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GCTTTGTTATCATCCTCAGTG 0.398000 85 148 0 0 0.003610 0 0 COL1A1 1277 broad.mit.edu 37 17 48263204 48263204 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:48263204C>T ENST00000225964.5 - 50 4301 c.4183G>A c.(4183-4185)Gag>Aag p.E1395K NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1395 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding p.E1395*(1) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ATCTCGATCTCGTTGGAGCCC 0.627000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 19 34 0 0 0.010504 0 0 GLB1L2 89944 broad.mit.edu 37 11 134214955 134214955 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:134214955C>T ENST00000535456.2 + 4 569 c.381C>T c.(379-381)atC>atT p.I127I GLB1L2_ENST00000339772.7_Silent_p.I127I|GLB1L2_ENST00000389881.3_Silent_p.I127I NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 127 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CCGCAGAGATCGGGCTGTGGG 0.662000 16 18 0 0 0.004990 0 0 MAP6 4135 broad.mit.edu 37 11 75319327 75319327 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:75319327G>A ENST00000434603.2 - 2 1010 c.946C>T c.(946-948)Cca>Tca p.P316S MAP6_ENST00000304771.3_Missense_Mutation_p.P316S|MAP6_ENST00000526740.1_5'UTR NM_207577.1 NP_997460.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 316 Calmodulin-binding (By similarity).|Mn 3. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) GCCTTTATTGGTTTCACAGGC 0.483000 30 44 0 0 0.003755 0 0 RDH12 145226 broad.mit.edu 37 14 68191872 68191872 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:68191872G>A ENST00000551171.1 + 5 568 c.244G>A c.(244-246)Gaa>Aaa p.E82K RDH12_ENST00000539142.1_Missense_Mutation_p.E82K|RDH12_ENST00000267502.3_Missense_Mutation_p.E82K NM_152443.2 NP_689656.2 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 82 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) TGCTGCCAGTGAAATCCGAGT 0.512000 45 126 0 0 0.003610 0 0 DNHD1 144132 broad.mit.edu 37 11 6589016 6589016 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:6589016C>T ENST00000254579.6 + 36 12841 c.12277C>T c.(12277-12279)Cca>Tca p.P4093S DNHD1_ENST00000527990.2_Missense_Mutation_p.P4093S NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4093 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GATCTTGTTGCCACCGCCTGG 0.552000 17 45 0 0 0.006122 0 0 G6PC 2538 broad.mit.edu 37 17 41063392 41063392 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:41063392C>T ENST00000253801.2 + 5 1102 c.1023C>T c.(1021-1023)atC>atT p.I341I G6PC_ENST00000585489.1_3'UTR NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 341 I -> N (in GSD1A). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) TCAGTGTCATCCCCTACTGCC 0.547000 20 97 0 0 0.010504 0 0 CYP4X1 260293 broad.mit.edu 37 1 47514275 47514275 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:47514275A>C ENST00000371901.3 + 10 1496 c.1246A>C c.(1246-1248)Aac>Cac p.N416H CYP4X1_ENST00000538609.1_Missense_Mutation_p.N415H NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 416 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TCTTCACCACAACCCTGCTGT 0.433000 74 180 0 0 0.003610 0 0 CASP14 23581 broad.mit.edu 37 19 15164410 15164410 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:15164410G>A ENST00000427043.3 + 3 453 c.145G>A c.(145-147)Gaa>Aaa p.E49K CASP14_ENST00000221740.1_Missense_Mutation_p.E49K NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 49 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 GCTGAGATTCGAAAGCACCAT 0.552000 25 76 0 0 0.003954 0 0 ZC3H12D 340152 broad.mit.edu 37 6 149795631 149795631 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:149795631G>A ENST00000389942.5 - 2 296 c.49C>T c.(49-51)Cgg>Tgg p.R17W ZC3H12D_ENST00000416573.2_Missense_Mutation_p.R17W|ZC3H12D_ENST00000409948.1_Missense_Mutation_p.R17W|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.R17W|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.R17W A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 17 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) ACATCCTCCCGGTCATAGCCC 0.667000 6 12 0 0 0.001984 0 0 SELE 6401 broad.mit.edu 37 1 169694893 169694893 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:169694893T>C ENST00000333360.7 - 13 1964 c.1825A>G c.(1825-1827)Atc>Gtc p.I609V SELE_ENST00000367776.1_Missense_Mutation_p.I546V|SELE_ENST00000367774.1_Missense_Mutation_p.I483V|SELE_ENST00000367779.4_Missense_Mutation_p.I483V|SELE_ENST00000367782.4_Missense_Mutation_p.I546V|SELE_ENST00000367780.4_Missense_Mutation_p.I484V|SELE_ENST00000367781.4_Missense_Mutation_p.I546V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.I546V|SELE_ENST00000367775.1_Missense_Mutation_p.I484V NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 609 actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) ACTTAAAGGATGTAAGAAGGC 0.403000 19 32 0 0 0.010504 0 0 GPR158 57512 broad.mit.edu 37 10 25701188 25701188 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:25701188C>T ENST00000376351.3 + 4 1480 c.1121C>T c.(1120-1122)cCg>cTg p.P374L NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 374 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GGAAGGGGTCCGGATCAGCAT 0.468000 35 91 0 0 0.004289 0 0 POLR1A 25885 broad.mit.edu 37 2 86327194 86327194 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:86327194G>A ENST00000263857.6 - 2 557 c.179C>T c.(178-180)tCc>tTc p.S60F POLR1A_ENST00000409681.1_Missense_Mutation_p.S60F O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 60 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CACCTCTTTGGAATCTGCAGG 0.527000 17 45 0 0 0.004990 0 0 DNAH9 1770 broad.mit.edu 37 17 11726147 11726147 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:11726147C>T ENST00000262442.3 + 48 9110 c.9042C>T c.(9040-9042)ttC>ttT p.F3014F DNAH9_ENST00000454412.2_Silent_p.F3014F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3014 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTAGCAAATTCATGGCCTTTG 0.433000 28 52 0 0 0.002096 0 0 TSNARE1 203062 broad.mit.edu 37 8 143425434 143425434 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:143425434G>A ENST00000524325.1 - 4 813 c.638C>T c.(637-639)tCc>tTc p.S213F TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.S213F|TSNARE1_ENST00000307180.3_Missense_Mutation_p.S213F Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 213 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGGCTTGCCGGAACCAGGGCT 0.697000 11 30 0 0 0.001368 0 0 LPAL2 80350 broad.mit.edu 37 6 160903763 160903763 + RNA SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:160903763T>G ENST00000335388.5 - 0 1120 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GGCAGGTTCTTCCTGTGACAG 0.473000 92 193 0 0 0.003610 0 0 IQSEC1 9922 broad.mit.edu 37 3 12954973 12954973 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:12954973G>A ENST00000273221.4 - 9 2529 c.2313C>T c.(2311-2313)ctC>ctT p.L771L NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 771 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GGTGTAGTCCGAGTTTCTGGG 0.582000 9 22 0 0 0.004482 0 0 NPL 80896 broad.mit.edu 37 1 182794936 182794936 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:182794936C>G ENST00000367554.3 + 10 1020 c.702C>G c.(700-702)atC>atG p.I234M NPL_ENST00000367553.1_Missense_Mutation_p.I253M|NPL_ENST00000367555.1_Missense_Mutation_p.I209M|NPL_ENST00000367552.2_Missense_Mutation_p.I209M|NPL_ENST00000258317.2_Missense_Mutation_p.I253M|NPL_ENST00000463899.1_3'UTR NM_001200050.1 NP_001186979.1 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) 253 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1) 15 AGAGATTTATCAACTTTGTTG 0.343000 16 79 0 0 0.007413 0 0 LPHN3 23284 broad.mit.edu 37 4 62363054 62363054 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:62363054C>T ENST00000512091.1 + 3 790 c.43C>T c.(43-45)Cca>Tca p.P15S LPHN3_ENST00000508946.1_Missense_Mutation_p.P15S|LPHN3_ENST00000506700.1_Missense_Mutation_p.P15S|LPHN3_ENST00000504896.1_Missense_Mutation_p.P15S|LPHN3_ENST00000509896.1_Missense_Mutation_p.P15S|LPHN3_ENST00000506720.1_Missense_Mutation_p.P15S|LPHN3_ENST00000506746.1_Missense_Mutation_p.P15S|LPHN3_ENST00000514157.1_Missense_Mutation_p.P15S|LPHN3_ENST00000511324.1_Missense_Mutation_p.P15S|LPHN3_ENST00000514996.1_Missense_Mutation_p.P15S|LPHN3_ENST00000508693.1_Missense_Mutation_p.P15S|LPHN3_ENST00000514591.1_Missense_Mutation_p.P15S|LPHN3_ENST00000507164.1_Missense_Mutation_p.P15S|LPHN3_ENST00000545650.1_Missense_Mutation_p.P15S|LPHN3_ENST00000507625.1_Missense_Mutation_p.P15S Q9HAR2 LPHN3_HUMAN latrophilin 3 15 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GCTCTTAGCTCCAATAATTCA 0.378000 5 18 0 0 0.003080 0 0 RASGRF2 5924 broad.mit.edu 37 5 80497238 80497238 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:80497238G>A ENST00000265080.4 + 19 2950 c.2883G>A c.(2881-2883)agG>agA p.R961R NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 961 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCCAAGAAAGGAAAGCCGCCG 0.413000 20 62 0 0 0.010504 0 0 LIPK 643414 broad.mit.edu 37 10 90497476 90497476 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:90497476C>T ENST00000404190.1 + 6 754 c.754C>T c.(754-756)Cgt>Tgt p.R252C NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K 252 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) AAAGCTATTCCGTCGTATTTG 0.373000 54 94 0 0 0.003610 0 0 ZNF830 91603 broad.mit.edu 37 17 33289621 33289621 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:33289621G>A ENST00000361952.3 + 1 1073 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 346 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) GAAAAAGGAAGAAGAGAATGC 0.423000 42 47 0 0 0.009718 0 0 DMBT1 1755 broad.mit.edu 37 10 124377568 124377568 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:124377568G>A ENST00000338354.3 + 38 4646 c.4540G>A c.(4540-4542)Gga>Aga p.G1514R DMBT1_ENST00000368956.2_Missense_Mutation_p.G886R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G365R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1514R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1504R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G886R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1504R Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1514 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ACTGGTGAATGGAGGTGACAG 0.547000 111 138 0 0 0.003610 0 0 NTRK1 4914 broad.mit.edu 37 1 156845919 156845919 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:156845919G>A ENST00000368196.3 + 12 1651 c.1531G>A c.(1531-1533)Ggg>Agg p.G511R NTRK1_ENST00000524377.1_Missense_Mutation_p.G517R|NTRK1_ENST00000358660.3_Missense_Mutation_p.G514R|NTRK1_ENST00000392302.2_Missense_Mutation_p.G481R NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 517 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GTGGGAGCTGGGGGAGGGCGC 0.637000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 12 56 0 0 0.001855 0 0 SPP2 6694 broad.mit.edu 37 2 234969093 234969093 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:234969093C>T ENST00000168148.3 + 4 502 c.414C>T c.(412-414)tcC>tcT p.S138S SPP2_ENST00000373368.1_Silent_p.S138S NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 138 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GCTGGTCCTCCTCCACGTCTG 0.567000 20 21 0 0 0.008871 0 0 SIK3 23387 broad.mit.edu 37 11 116827673 116827673 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:116827673C>T ENST00000375300.1 - 2 386 c.381G>A c.(379-381)agG>agA p.R127R SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.R69R|SIK3_ENST00000446921.2_Silent_p.R127R|SIK3_ENST00000292055.4_Silent_p.R69R Q9Y2K2 SIK3_HUMAN SIK family kinase 3 69 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CCTGGTAGAGCCTGATGATAT 0.418000 86 347 0 0 0.003610 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175171 207175171 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:207175171A>G ENST00000374423.3 + 5 6305 c.5919A>G c.(5917-5919)tcA>tcG p.S1973S NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1973 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 GTAAGTGTTCACGTTTACAGG 0.368000 16 34 0 0 0.004007 0 0 JARID2 3720 broad.mit.edu 37 6 15496631 15496631 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:15496631C>T ENST00000341776.2 + 7 1419 c.1175C>T c.(1174-1176)tCc>tTc p.S392F JARID2_ENST00000397311.3_Missense_Mutation_p.S220F|JARID2_ENST00000541660.1_Missense_Mutation_p.S354F NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 392 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CAGGTGCTATCCCTCGGGGGG 0.572000 28 81 0 0 0.008361 0 0 SLIT1 6585 broad.mit.edu 37 10 98806450 98806450 + Missense_Mutation SNP C C T rs147332825 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:98806450C>T ENST00000266058.4 - 18 2059 c.1814G>A c.(1813-1815)cGg>cAg p.R605Q ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R605Q NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 605 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CATGCCGCTCCGGATGGACTC 0.622000 9 16 0 0 0.006214 0 0 SCN10A 6336 broad.mit.edu 37 3 38770081 38770081 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38770081G>A ENST00000449082.2 - 15 2591 c.2592C>T c.(2590-2592)tcC>tcT p.S864S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 864 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) TGAGGCATATGGATTTTTGGC 0.522000 13 52 0 0 0.001368 0 0 AKT1 207 broad.mit.edu 37 14 105246461 105246461 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:105246461G>A ENST00000554581.1 - 2 1619 c.139C>T c.(139-141)Caa>Taa p.Q47* AKT1_ENST00000554848.1_Nonsense_Mutation_p.Q47*|AKT1_ENST00000349310.3_Nonsense_Mutation_p.Q47*|AKT1_ENST00000407796.2_Nonsense_Mutation_p.Q47*|AKT1_ENST00000402615.2_Nonsense_Mutation_p.Q47*|AKT1_ENST00000555528.1_Nonsense_Mutation_p.Q47* P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 47 PH. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) GCCTCACGTTGGTCCACATCC 0.577000 1 Mis """breast, colorectal, ovarian, NSCLC""" 25 38 0 0 0.005443 0 0 GPLD1 2822 broad.mit.edu 37 6 24475374 24475374 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:24475374T>C ENST00000230036.1 - 5 526 c.416A>G c.(415-417)cAa>cGa p.Q139R GPLD1_ENST00000474784.1_5'UTR NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 139 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 AAGGAATCCTTGTTCAAGGCC 0.463000 35 81 0 0 0.006230 0 0 HORMAD1 84072 broad.mit.edu 37 1 150672618 150672618 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:150672618C>T ENST00000368993.2 - 14 1179 c.1074G>A c.(1072-1074)cgG>cgA p.R358R HORMAD1_ENST00000368995.4_Silent_p.R278R|HORMAD1_ENST00000361824.2_Silent_p.R358R|HORMAD1_ENST00000322343.7_Silent_p.R351R Q86X24 HORM1_HUMAN HORMA domain containing 1 358 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GACTTCTCTTCCGATTTTCTT 0.318000 17 23 0 0 0.007413 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139855 40139855 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:40139855A>G ENST00000325157.6 - 7 1903 c.1653T>C c.(1651-1653)ctT>ctC p.L551L NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 551 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CCTCCCTTAAAAGAACACTAA 0.423000 11 35 0 0 0.000978 0 0 MECOM 2122 broad.mit.edu 37 3 168845645 168845645 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:168845645G>A ENST00000464456.1 - 4 1453 c.253C>T c.(253-255)Cct>Tct p.P85S MECOM_ENST00000392736.3_Missense_Mutation_p.P85S|MECOM_ENST00000468789.1_Missense_Mutation_p.P85S|MECOM_ENST00000494292.1_Missense_Mutation_p.P273S|MECOM_ENST00000472280.1_Missense_Mutation_p.P85S|MECOM_ENST00000264674.3_Missense_Mutation_p.P149S|MECOM_ENST00000433243.2_Missense_Mutation_p.P85S|MECOM_ENST00000460814.1_Missense_Mutation_p.P85S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TGCAAATCAGGAAAAACTTGG 0.383000 42 92 0 0 0.003610 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558910 140558910 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140558910T>C ENST00000239444.2 + 1 1540 c.1295T>C c.(1294-1296)cTg>cCg p.L432P NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 432 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCAGGCTGACAACACAT 0.532000 29 263 0 0 0.002096 0 0 ANKRD20A4 728747 broad.mit.edu 37 9 69420379 69420379 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:69420379A>T ENST00000357336.3 + 13 1550 c.1269A>T c.(1267-1269)aaA>aaT p.K423N NM_001098805.1 NP_001092275.1 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 423 breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2) 16 AGATTGGGAAAACGTATCCTC 0.348000 8 166 0 0 0.000978 0 0 CALCRL 10203 broad.mit.edu 37 2 188216651 188216651 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:188216651C>T ENST00000409998.1 - 15 1947 c.1166G>A c.(1165-1167)gGa>gAa p.G389E AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.G389E|CALCRL_ENST00000410068.1_Missense_Mutation_p.G389E|AC007319.1_ENST00000412276.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 389 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TCATACCTCTCCATTAAAGAA 0.279000 4 27 0 0 0.000602 0 0 RELN 5649 broad.mit.edu 37 7 103236992 103236992 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:103236992C>T ENST00000424685.2 - 25 3609 c.3450G>A c.(3448-3450)gaG>gaA p.E1150E RELN_ENST00000428762.1_Silent_p.E1150E|RELN_ENST00000343529.5_Silent_p.E1150E P78509 RELN_HUMAN reelin 1150 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.E1150D(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGACGCCCTCCTCTCTGCTGT 0.522000 174 65 0 0 0.003610 0 0 SSRP1 6749 broad.mit.edu 37 11 57099701 57099701 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:57099701G>A ENST00000278412.2 - 8 1192 c.926C>T c.(925-927)tCc>tTc p.S309F NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 309 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 CTCATAGAGGGATCCTGACAT 0.527000 13 59 0 0 0.001368 0 0 LINC00174 285908 broad.mit.edu 37 7 65842553 65842553 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:65842553C>T ENST00000421767.1 - 0 3179 NR_026873.1 CGTGCTGTTCCTGGCGAGGCT 0.572000 4 13 0 0 0.000602 0 0 GPR111 222611 broad.mit.edu 37 6 47646750 47646750 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:47646750C>T ENST00000398742.2 + 3 196 c.147C>T c.(145-147)tcC>tcT p.S49S GPR111_ENST00000296862.1_Silent_p.S117S|GPR111_ENST00000507065.1_Silent_p.S49S Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 117 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CAGACTACTCCCAGTGTACTC 0.512000 29 44 0 0 0.006320 0 0 KLK1 3816 broad.mit.edu 37 19 51323241 51323241 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:51323241C>T ENST00000448701.2 - 5 1565 c.241G>A c.(241-243)Gat>Aat p.D81N KLK1_ENST00000301420.2_Missense_Mutation_p.D183N P06870 KLK1_HUMAN kallikrein 1 183 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGCACTCATCATTAGGCAGG 0.542000 19 31 0 0 0.010504 0 0 ART3 419 broad.mit.edu 37 4 77033592 77033592 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:77033592G>A ENST00000355810.4 + 12 1209 c.1090G>A c.(1090-1092)Ggc>Agc p.G364S ART3_ENST00000341029.5_Missense_Mutation_p.G342S|ART3_ENST00000349321.3_Missense_Mutation_p.G353S NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 364 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGCATCCTCGGGCAAACTGCT 0.413000 15 70 0 0 0.002450 0 0 RNF213 57674 broad.mit.edu 37 17 78318516 78318516 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:78318516C>T ENST00000582970.1 + 29 6524 c.6381C>T c.(6379-6381)ttC>ttT p.F2127F RNF213_ENST00000336301.6_Silent_p.F200F|RNF213_ENST00000508628.2_Silent_p.F2176F NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TTGACATCTTCCCAAAAGTCA 0.473000 17 108 0 0 0.010504 0 0 C11orf82 220042 broad.mit.edu 37 11 82625826 82625826 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:82625826C>T ENST00000533655.1 + 3 258 c.46C>T c.(46-48)Cag>Tag p.Q16* C11orf82_ENST00000430323.2_Nonsense_Mutation_p.Q16*|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000525388.1_Nonsense_Mutation_p.Q16*|C11orf82_ENST00000524921.1_Nonsense_Mutation_p.Q16*|C11orf82_ENST00000528759.1_Nonsense_Mutation_p.Q16*|C11orf82_ENST00000525361.1_Nonsense_Mutation_p.Q16* NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 16 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 ACTTGCTCTCCAGAATTCAAG 0.398000 6 30 0 0 0.001168 0 0 ADAM18 8749 broad.mit.edu 37 8 39495093 39495093 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:39495093C>T ENST00000265707.5 + 9 743 c.698C>T c.(697-699)tCc>tTc p.S233F ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.S209F NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 233 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.S233F(1) NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ATACTGTCTTCCTTGGAATTG 0.323000 16 27 0 0 0.004007 0 0 SPTA1 6708 broad.mit.edu 37 1 158644350 158644350 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:158644350C>T ENST00000368148.3 - 9 1408 c.1228G>A c.(1228-1230)Gac>Aac p.D410N SPTA1_ENST00000368147.3_Missense_Mutation_p.D410N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 410 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGATGCCTGTCCAGCAGAACT 0.512000 35 106 0 0 0.003271 0 0 PLCG1 5335 broad.mit.edu 37 20 39794189 39794189 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:39794189G>A ENST00000373272.2 + 15 2014 c.1609G>A c.(1609-1611)Gag>Aag p.E537K PLCG1_ENST00000373271.1_Missense_Mutation_p.E537K|PLCG1_ENST00000244007.3_Missense_Mutation_p.E537K NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 537 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) GGAGCCCAAGGAGGTGAGGAA 0.587000 19 17 0 0 0.006122 0 0 KRT33B 3884 broad.mit.edu 37 17 39522757 39522757 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:39522757C>T ENST00000251646.3 - 3 602 c.553G>A c.(553-555)Gag>Aag p.E185K NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 185 Coil 1B.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) AGCAGCTCCTCCTTCAGGGAC 0.577000 8 47 0 0 0.004482 0 0 THAP8 199745 broad.mit.edu 37 19 36530863 36530863 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:36530863G>A ENST00000292894.1 - 2 803 c.259C>T c.(259-261)Cgg>Tgg p.R87W AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000524106.1_5'UTR|THAP8_ENST00000538849.1_Intron NM_152658.2 NP_689871.1 Q8NA92 THAP8_HUMAN THAP domain containing 8 87 DNA binding|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGTGGTCCCCGGGAGAAGATG 0.627000 16 48 0 0 0.004990 0 0 UBE2N 7334 broad.mit.edu 37 12 93804628 93804628 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:93804628C>T ENST00000318066.2 - 3 677 c.300G>A c.(298-300)caG>caA p.Q100Q UBE2N_ENST00000549833.1_Silent_p.Q37Q|UBE2N_ENST00000550657.1_3'UTR|UBE2N_ENST00000552442.1_Intron NM_003348.3 NP_003339.1 P61088 UBE2N_HUMAN ubiquitin-conjugating enzyme E2N 100 DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex ATP binding|ubiquitin binding|ubiquitin-protein ligase activity endometrium(3)|liver(2)|lung(5) 10 CTGTGCGGATCTGCAGTGCTG 0.498000 Direct reversal of damage;Rad6 pathway 22 47 0 0 0.002299 0 0 TMEM132A 54972 broad.mit.edu 37 11 60696268 60696268 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:60696268G>A ENST00000005286.4 + 4 855 c.702G>A c.(700-702)gtG>gtA p.V234V TMEM132A_ENST00000453848.2_Silent_p.V234V NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 234 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCCTCCCAGTGGGGGGTGTGG 0.711000 5 14 0 0 0.000602 0 0 MDC1 9656 broad.mit.edu 37 6 30671853 30671853 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:30671853G>A ENST00000376406.3 - 10 5754 c.5107C>T c.(5107-5109)Cct>Tct p.P1703S MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1439S NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1703 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GTGGTGACAGGAGATTGGAAT 0.567000 Other conserved DNA damage response genes 43 71 0 0 0.008740 0 0 ADCY5 111 broad.mit.edu 37 3 123022927 123022927 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:123022927G>A ENST00000462833.1 - 13 3758 c.2546C>T c.(2545-2547)gCt>gTt p.A849V ADCY5_ENST00000309879.5_Missense_Mutation_p.A499V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A482V NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 849 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) GTTGACAAAAGCCGCCAGGAA 0.597000 12 27 0 0 0.001855 0 0 AP4E1 23431 broad.mit.edu 37 15 51294751 51294751 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:51294751G>A ENST00000261842.5 + 21 3412 c.3306G>A c.(3304-3306)ctG>ctA p.L1102L AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.L1027L NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 1102 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) CCTGCTTACTGCATTGCCGAG 0.428000 45 96 0 0 0.003610 0 0 GRM1 2911 broad.mit.edu 37 6 146673564 146673564 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:146673564C>T ENST00000392299.2 + 5 1835 c.1365C>T c.(1363-1365)atC>atT p.I455I GRM1_ENST00000492807.2_Silent_p.I455I|GRM1_ENST00000361719.2_Silent_p.I455I|GRM1_ENST00000282753.1_Silent_p.I455I|GRM1_ENST00000507907.1_Silent_p.I455I|GRM1_ENST00000355289.4_Silent_p.I455I Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 455 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACTTCCTCATCAAGTCCTCAT 0.522000 68 101 0 0 0.003610 0 0 PDPN 10630 broad.mit.edu 37 1 13936921 13936921 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:13936921G>A ENST00000294489.6 + 3 810 c.469G>A c.(469-471)Gag>Aag p.E157K PDPN_ENST00000487038.1_Missense_Mutation_p.E39K|PDPN_ENST00000509009.1_Missense_Mutation_p.E76K|PDPN_ENST00000376061.4_Missense_Mutation_p.E39K|PDPN_ENST00000513143.1_Missense_Mutation_p.E39K|PDPN_ENST00000376057.4_Missense_Mutation_p.E157K|PDPN_ENST00000475043.1_Missense_Mutation_p.E39K Q86YL7 PDPN_HUMAN podoplanin 81 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane p.E157K(2) endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CATTCGCATCGAGGATCTGCC 0.463000 19 71 0 0 0.008871 0 0 ALG3 10195 broad.mit.edu 37 3 183961673 183961673 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:183961673G>A ENST00000455059.1 - 6 1172 c.718C>T c.(718-720)Cca>Tca p.P240S EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Missense_Mutation_p.P224S|ALG3_ENST00000463495.1_5'UTR|ALG3_ENST00000445626.2_Missense_Mutation_p.P232S|ALG3_ENST00000397676.3_Missense_Mutation_p.P280S Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 280 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCGCCTCTGGGAGGAAGCGC 0.627000 5 33 0 0 0.000602 0 0 GYPB 2994 broad.mit.edu 37 4 144920579 144920579 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:144920579G>A ENST00000283126.7 - 3 215 c.160C>T c.(160-162)Cgt>Tgt p.R54C RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000513128.1_Missense_Mutation_p.R21C|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000502664.1_Missense_Mutation_p.R54C|GYPB_ENST00000429670.2_Missense_Mutation_p.R54C glycophorin B (MNS blood group) breast(1)|large_intestine(2)|skin(1) 4 all_hematologic(180;0.158) ACAGTGAAACGATGGACAAGT 0.313000 4 15 0 0 0.009096 0 0 BCO2 83875 broad.mit.edu 37 11 112064319 112064319 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:112064319G>A ENST00000357685.5 + 3 551 c.416G>A c.(415-417)cGa>cAa p.R139Q BCO2_ENST00000526088.1_Missense_Mutation_p.R105Q|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000438022.1_Missense_Mutation_p.R105Q|BCO2_ENST00000531169.1_Missense_Mutation_p.R105Q|BCO2_ENST00000361053.4_Missense_Mutation_p.R139Q|BCO2_ENST00000393032.2_Missense_Mutation_p.R105Q|BCO2_ENST00000532593.1_Missense_Mutation_p.R34Q Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 139 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 GCTAAAAACCGAATTGTGATC 0.463000 7 33 0 0 0.001984 0 0 ATF1 466 broad.mit.edu 37 12 51208074 51208074 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:51208074G>A ENST00000262053.3 + 6 545 c.523G>A c.(523-525)Gat>Aat p.D175N ATF1_ENST00000539132.1_Missense_Mutation_p.D40N NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 175 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 TGCATCAGGAGATATGCAAAC 0.418000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 19 37 0 0 0.002299 0 0 OR9G4 283189 broad.mit.edu 37 11 56510823 56510823 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:56510823G>A ENST00000302957.3 - 1 464 c.465C>T c.(463-465)ctC>ctT p.L155L NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GCCCAGTACAGAGGGCGGTGG 0.468000 30 84 0 0 0.002096 0 0 MSI1 4440 broad.mit.edu 37 12 120784047 120784047 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:120784047G>A ENST00000257552.2 - 13 1026 c.938C>T c.(937-939)cCc>cTc p.P313L NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 313 nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CATGGGGCCGGGGCTGGTGGT 0.701000 3 10 0 0 0.004672 0 0 MB21D1 115004 broad.mit.edu 37 6 74155401 74155401 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:74155401A>T ENST00000370315.3 - 2 821 c.727T>A c.(727-729)Tcc>Acc p.S243T MB21D1_ENST00000370318.1_Missense_Mutation_p.S243T NM_138441.2 NP_612450.2 Q8N884 M21D1_HUMAN Mab-21 domain containing 1 243 central_nervous_system(1)|large_intestine(4)|lung(1) 6 CGAGTGTTGGAATATTCTTCT 0.308000 18 44 0 0 0.001882 0 0 MYL7 58498 broad.mit.edu 37 7 44179459 44179459 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:44179459C>T ENST00000458240.1 - 4 506 c.217_splice c.e4-1 p.G73_splice MYL7_ENST00000223364.3_Splice_Site_p.G100_splice|MYL7_ENST00000434895.1_5'UTR Q01449 MLRA_HUMAN myosin, light chain 7, regulatory 100 actin filament-based movement|smooth muscle contraction A band|myosin complex ATPase activity, coupled|calcium ion binding|microfilament motor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 12 GGGGTCTGTCCCTGGAAGGCC 0.612000 7 14 0 0 0.001984 0 0 PDLIM5 10611 broad.mit.edu 37 4 95497158 95497158 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:95497158C>T ENST00000317968.4 + 5 819 c.683C>T c.(682-684)tCc>tTc p.S228F PDLIM5_ENST00000508216.1_Missense_Mutation_p.S119F|PDLIM5_ENST00000380180.3_Missense_Mutation_p.S119F|PDLIM5_ENST00000542407.1_Missense_Mutation_p.S106F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.S119F|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000514743.1_Missense_Mutation_p.S119F|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000450793.1_Missense_Mutation_p.S119F NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 228 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) AGAAGAGGATCCCAGGGTGAC 0.483000 11 40 0 0 0.003163 0 0 ZNF761 388561 broad.mit.edu 37 19 53958194 53958194 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:53958194C>T ENST00000454407.1 + 0 886 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATCAAGCTTTCATTCGCATCT 0.388000 50 71 0 0 0.003610 0 0 FLRT2 23768 broad.mit.edu 37 14 86088740 86088740 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:86088740G>A ENST00000330753.4 + 2 1649 c.882G>A c.(880-882)ggG>ggA p.G294G FLRT2_ENST00000554746.1_Silent_p.G294G NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 294 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.G294G(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGACTCAAGGGGTTTTTGATA 0.443000 79 187 0 0 0.003610 0 0 RPL39 6170 broad.mit.edu 37 X 118923942 118923942 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:118923942G>A ENST00000361575.3 - 2 102 c.36C>T c.(34-36)ttC>ttT p.F12F RPL39_ENST00000468844.1_5'UTR NM_001000.2 NP_000991.1 P62891 RL39_HUMAN ribosomal protein L39 12 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 TCTTGGCCAGGAATCGCTTAA 0.398000 4 30 0 0 0.000602 0 0 NAALADL2 254827 broad.mit.edu 37 3 174815070 174815070 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:174815070G>A ENST00000454872.1 + 2 662 c.534G>A c.(532-534)aaG>aaA p.K178K NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 178 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AAGATATTAAGAAGTCTTTCA 0.378000 34 70 0 0 0.004878 0 0 AKAP6 9472 broad.mit.edu 37 14 33068655 33068655 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:33068655G>A ENST00000280979.4 + 6 2679 c.2509G>A c.(2509-2511)Gaa>Aaa p.E837K AKAP6_ENST00000557272.1_Missense_Mutation_p.E837K|AKAP6_ENST00000557354.1_Missense_Mutation_p.E837K NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 837 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TGCTCTCAAGGAAGCTGTGGA 0.403000 31 79 0 0 0.003271 0 0 USH1C 10083 broad.mit.edu 37 11 17531214 17531214 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:17531214G>A ENST00000005226.7 - 18 1701 c.1702C>T c.(1702-1704)Cca>Tca p.P568S USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 TTGGAGGGTGGAGGGTGGGGC 0.627000 8 22 0 0 0.006214 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21453318 21453318 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:21453318C>T ENST00000307378.6 - 9 1594 c.874G>A c.(874-876)Gaa>Aaa p.E292K SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E292K|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E290K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E160K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E160K NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 292 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TTGACCTCTTCTTTTTGTTTG 0.308000 11 23 0 0 0.001368 0 0 FLVCR1 28982 broad.mit.edu 37 1 213061908 213061908 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:213061908C>T ENST00000366971.4 + 7 1583 c.1385C>T c.(1384-1386)tCa>tTa p.S462L FLVCR1_ENST00000483790.1_3'UTR NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 462 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) GAAGGTACTTCATCTGGTCTT 0.368000 29 64 0 0 0.007291 0 0 DNAH1 25981 broad.mit.edu 37 3 52422227 52422227 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:52422227C>T ENST00000420323.2 + 57 9309 c.9048C>T c.(9046-9048)atC>atT p.I3016I NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3016 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGCCGTACATCGATAATGAAG 0.562000 5 7 0 0 0.003080 0 0 GLIS1 148979 broad.mit.edu 37 1 53972352 53972352 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:53972352G>A ENST00000312233.2 - 10 2369 c.1803C>T c.(1801-1803)ttC>ttT p.F601F NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 601 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 CTCCATTGGGGAAGAAGCCAC 0.627000 27 69 0 0 0.002096 0 0 GIP 2695 broad.mit.edu 37 17 47041831 47041831 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:47041831G>A ENST00000357424.2 - 3 198 c.98C>T c.(97-99)tCc>tTc p.S33F NM_004123.2 NP_004114.1 P09681 GIP_HUMAN gastric inhibitory polypeptide 33 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity lung(2)|skin(1)|stomach(1) 4 AACAGGCAGGGAGGGGAGAGC 0.557000 23 42 0 0 0.002299 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43871886 43871886 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:43871886T>C ENST00000282406.4 + 2 184 c.74T>C c.(73-75)aTg>aCg p.M25T NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 25 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) TCCCAACTCATGAAATTTAGA 0.388000 80 179 0 0 0.003610 0 0 TSKS 60385 broad.mit.edu 37 19 50249796 50249796 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:50249796C>T ENST00000246801.3 - 6 1005 c.923G>A c.(922-924)cGg>cAg p.R308Q TSKS_ENST00000358830.3_Missense_Mutation_p.R108Q NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 308 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CTCGCCAGCCCGAGGCCCCAT 0.716000 15 39 0 0 0.004007 0 0 TACR3 6870 broad.mit.edu 37 4 104511147 104511147 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:104511147G>A ENST00000304883.2 - 5 1230 c.1090C>T c.(1090-1092)Cga>Tga p.R364* RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 364 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AAGCCAGCTCGAAATCTGAGG 0.428000 7 16 0 0 0.001984 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986571 11986571 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:11986571C>T ENST00000434078.2 + 0 608 NR_027425.1 GAGACCAGCTCCCACCGCAGC 0.572000 10 43 0 0 0.000978 0 0 CCDC40 55036 broad.mit.edu 37 17 78058567 78058567 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:78058567G>A ENST00000397545.4 + 13 2042 c.2015G>A c.(2014-2016)gGt>gAt p.G672D CCDC40_ENST00000374877.3_Missense_Mutation_p.G672D NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 672 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AAAATCAACGGTGACATTGCC 0.527000 13 18 0 0 0.001855 0 0 TNXB 7148 broad.mit.edu 37 6 32010368 32010368 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:32010368G>A ENST00000375244.3 - 40 12275 c.12074C>T c.(12073-12075)cCc>cTc p.P4025L TNXB_ENST00000375247.2_Missense_Mutation_p.P4023L|TNXB_ENST00000451343.1_Missense_Mutation_p.P454L P22105 TENX_HUMAN tenascin XB 4070 Fibronectin type-III 32. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCTGGGGAAGGGGATCCGCAG 0.701000 34 75 0 0 0.009718 0 0 CUBN 8029 broad.mit.edu 37 10 16979614 16979614 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:16979614C>T ENST00000377833.4 - 39 5968 c.5903G>A c.(5902-5904)gGt>gAt p.G1968D NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1968 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGTAAAACACCATCAGGTGC 0.413000 8 22 0 0 0.004482 0 0 IGHG1 3500 broad.mit.edu 37 14 106208050 106208050 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:106208050C>T ENST00000390548.2 - 0 752 AGCCTTTGACCAGGCAGGTCA 0.622000 78 96 0 0 0.003610 0 0 TFPT 29844 broad.mit.edu 37 19 54611388 54611388 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:54611388G>A ENST00000391759.1 - 5 992 c.587C>T c.(586-588)cCa>cTa p.P196L TFPT_ENST00000391757.1_Missense_Mutation_p.H184Y|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.P187L NM_013342.3 NP_037474.1 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner (in childhood Leukemia) 196 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) TCCATCCCGTGGCACTCGCCG 0.692000 T TCF3 pre-B ALL 16 48 0 0 0.008871 0 0 IGSF8 93185 broad.mit.edu 37 1 160062338 160062338 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:160062338C>T ENST00000368086.1 - 5 1676 c.1460G>A c.(1459-1461)gGa>gAa p.G487E IGSF8_ENST00000314485.7_Missense_Mutation_p.G487E Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 487 Ig-like C2-type 4. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCTGAGCTCTCCGTCCTCTGG 0.697000 9 9 0 0 0.004482 0 0 PSG9 5678 broad.mit.edu 37 19 43763053 43763053 + Missense_Mutation SNP C C T rs147249563 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:43763053C>T ENST00000418820.2 - 3 763 c.665G>A c.(664-666)cGa>cAa p.R222Q PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.R315Q|PSG9_ENST00000443718.3_Missense_Mutation_p.R222Q|PSG9_ENST00000593948.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 222 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GCCACCATATCGGTCCCGTAT 0.493000 47 22 0 0 0.003610 0 0 DNAH9 1770 broad.mit.edu 37 17 11827196 11827196 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:11827196G>A ENST00000262442.3 + 62 11883 c.11815G>A c.(11815-11817)Gaa>Aaa p.E3939K DNAH9_ENST00000396001.2_Missense_Mutation_p.E251K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3939K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3939 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCAAGGACAGGAAGTGGTGGC 0.473000 8 49 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179498051 179498051 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179498051G>A ENST00000589042.1 - 233 43173 c.42949C>T c.(42949-42951)Cga>Tga p.R14317* TTN_ENST00000359218.5_Nonsense_Mutation_p.R5377*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R11749*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R5252*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R5444*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R12676*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12676 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) TTTATTAGTCGAGCTGAAATG 0.393000 40 110 0 0 0.002522 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845547 106845547 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:106845547G>A ENST00000276185.4 + 16 4377 c.4377G>A c.(4375-4377)aaG>aaA p.K1459K Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1459 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GGGAGGCCAAGGAGGTAGAGG 0.632000 14 5 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 8996489 8996489 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:8996489C>T ENST00000397910.4 - 61 41286 c.41083G>A c.(41083-41085)Gaa>Aaa p.E13695K MUC16_ENST00000380951.5_Missense_Mutation_p.E336K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13697 SEA 11. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCATCCTTTTCAGGCCTGGAG 0.547000 26 38 0 0 0.003330 0 0 SLC13A3 64849 broad.mit.edu 37 20 45194871 45194871 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:45194871C>T ENST00000279027.4 - 11 1509 c.1491G>A c.(1489-1491)gaG>gaA p.E497E SLC13A3_ENST00000472148.1_Silent_p.E415E|SLC13A3_ENST00000290317.5_Silent_p.E450E|SLC13A3_ENST00000413164.2_Silent_p.E447E|SLC13A3_ENST00000396360.1_Silent_p.E415E|SLC13A3_ENST00000435032.1_Silent_p.E82E|SLC13A3_ENST00000495082.1_Silent_p.E450E NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 497 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CCCTCACCAGCTCTGCCAGGA 0.607000 91 106 0 0 0.003610 0 0 NMUR1 10316 broad.mit.edu 37 2 232392867 232392867 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:232392867C>T ENST00000305141.4 - 2 998 c.865G>A c.(865-867)Gat>Aat p.D289N NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 289 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CGGCCCCGATCGTGCTGCTGG 0.652000 10 43 0 0 0.001368 0 0 SATB2 23314 broad.mit.edu 37 2 200193547 200193547 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:200193547A>T ENST00000443023.1 - 7 2548 c.1083T>A c.(1081-1083)aaT>aaA p.N361K SATB2_ENST00000417098.1_Missense_Mutation_p.N420K|SATB2_ENST00000428695.1_Missense_Mutation_p.N302K|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000260926.5_Missense_Mutation_p.N420K|SATB2_ENST00000457245.1_Missense_Mutation_p.N420K Q9UPW6 SATB2_HUMAN SATB homeobox 2 420 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GATTGAGGAAATTCTGCATGG 0.522000 26 34 0 0 0.004656 0 0 CSF1 1435 broad.mit.edu 37 1 110466382 110466382 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:110466382G>A ENST00000329608.6 + 6 1530 c.1139G>A c.(1138-1140)tGg>tAg p.W380* CSF1_ENST00000344188.5_Intron|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Nonsense_Mutation_p.W380* NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 380 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) GGCCAGGACTGGAATCACACC 0.647000 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 17 0 0 0.001855 0 0 SLC10A6 345274 broad.mit.edu 37 4 87770009 87770009 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:87770009G>A ENST00000273905.6 - 1 407 c.260C>T c.(259-261)gCc>gTc p.A87V SLC10A6_ENST00000505535.1_5'UTR NM_197965.2 NP_932069.1 Q3KNW5 SOAT_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 6 87 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) AAAGCTAATGGCCAGGAGATA 0.537000 16 30 0 0 0.004007 0 0 PKLR 5313 broad.mit.edu 37 1 155264324 155264324 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:155264324C>T ENST00000392414.3 - 6 934 c.821G>A c.(820-822)gGa>gAa p.G274E PKLR_ENST00000342741.4_Missense_Mutation_p.G305E NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 305 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GATGCCGTGTCCTTCCGGACC 0.597000 31 35 0 0 0.008361 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317025 30317025 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:30317025G>A ENST00000375377.1 - 3 2153 c.2052C>T c.(2050-2052)caC>caT p.H684H NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 684 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CTCTGTACCGGTGCCCTGGCC 0.527000 29 58 0 0 0.007291 0 0 PLCH1 23007 broad.mit.edu 37 3 155200813 155200813 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:155200813C>T ENST00000460012.1 - 23 3269 c.2912G>A c.(2911-2913)gGg>gAg p.G971E PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.G971E|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.G971E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1009E Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1009 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ACTTGCTTTCCCTTTTCTTCT 0.393000 27 73 0 0 0.003954 0 0 TOP2B 7155 broad.mit.edu 37 3 25670418 25670418 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:25670418G>A ENST00000435706.2 - 15 2012 c.1811C>T c.(1810-1812)tCc>tTc p.S604F TOP2B_ENST00000264331.4_Missense_Mutation_p.S609F Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 609 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 ACTGTAGAAGGAAAGTTCCTG 0.259000 13 35 0 0 0.003163 0 0 COL4A4 1286 broad.mit.edu 37 2 227922198 227922198 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:227922198C>T ENST00000396625.3 - 29 2709 c.2502G>A c.(2500-2502)ggG>ggA p.G834G COL4A4_ENST00000329662.7_Silent_p.G834G NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 834 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCCCTGGTATCCCTGGAGCAC 0.542000 7 16 0 0 0.003080 0 0 TYR 7299 broad.mit.edu 37 11 89017985 89017985 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:89017985T>A ENST00000263321.5 + 4 1731 c.1229T>A c.(1228-1230)gTt>gAt p.V410D NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 410 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CTTCAAGAAGTTTATCCAGAA 0.388000 19 44 0 0 0.008871 0 0 IGIP 492311 broad.mit.edu 37 5 139508158 139508158 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:139508158C>T ENST00000333305.3 + 1 2638 c.97C>T c.(97-99)Cca>Tca p.P33S NM_001007189.1 NP_001007190.1 A6NJ69 IGIP_HUMAN IgA-inducing protein 33 extracellular region TGGGAAATCACCATGTGGAAA 0.423000 37 66 0 0 0.004289 0 0 CLNK 116449 broad.mit.edu 37 4 10509591 10509591 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:10509591C>T ENST00000226951.6 - 17 1215 c.976G>A c.(976-978)Gag>Aag p.E326K CLNK_ENST00000515667.1_Missense_Mutation_p.E64K NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker 326 SH2. immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 ACCTTGTTCTCCTTCATGAAT 0.423000 4 9 0 0 0.009096 0 0 GPC6 10082 broad.mit.edu 37 13 94197620 94197620 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:94197620G>A ENST00000377047.4 + 2 880 c.265G>A c.(265-267)Gag>Aag p.E89K NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 89 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CCTTGTGGAAGAGACAAGCCA 0.403000 33 64 0 0 0.004289 0 0 CUBN 8029 broad.mit.edu 37 10 16932473 16932473 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:16932473C>T ENST00000377833.4 - 55 8717 c.8652G>A c.(8650-8652)ggG>ggA p.G2884G NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2884 CUB 21. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAGCCACGTTCCCACAGCCAG 0.552000 23 59 0 0 0.002780 0 0 ARID2 196528 broad.mit.edu 37 12 46230562 46230562 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:46230562C>T ENST00000334344.6 + 8 983 c.811C>T c.(811-813)Cat>Tat p.H271Y ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.H122Y NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 271 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GTCTTTATTTCATCCACCTCG 0.348000 """N, S, F""" hepatocellular carcinoma 17 56 0 0 0.006122 0 0 TYR 7299 broad.mit.edu 37 11 89017984 89017984 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:89017984G>A ENST00000263321.5 + 4 1730 c.1228G>A c.(1228-1230)Gtt>Att p.V410I NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 410 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TCTTCAAGAAGTTTATCCAGA 0.388000 16 45 0 0 0.004990 0 0 FSTL5 56884 broad.mit.edu 37 4 162402208 162402208 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:162402208G>A ENST00000306100.5 - 13 2008 c.1572C>T c.(1570-1572)gtC>gtT p.V524V FSTL5_ENST00000427802.2_Silent_p.V514V|FSTL5_ENST00000379164.4_Silent_p.V523V|FSTL5_ENST00000536695.1_Silent_p.V523V NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 524 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CAACAATAAGGACTCTGTCCA 0.343000 46 65 0 0 0.002852 0 0 RARRES3 5920 broad.mit.edu 37 11 63313695 63313695 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:63313695G>A ENST00000255688.3 + 4 510 c.462G>A c.(460-462)gcG>gcA p.A154A RARRES3_ENST00000354445.2_Silent_p.A154A|RARRES3_ENST00000537871.1_3'UTR NM_004585.3 NP_004576.2 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 154 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 GCTCTTTTGCGATTAGGAGAT 0.522000 45 145 0 0 0.003610 0 0 C4orf40 401137 broad.mit.edu 37 4 71024290 71024290 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:71024290G>A ENST00000344526.5 + 3 510 c.321G>A c.(319-321)agG>agA p.R107R C4orf40_ENST00000502294.1_Silent_p.R107R|C4orf40_ENST00000502441.2_3'UTR NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 107 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TCCCTCCTAGGGGTTTCCCGT 0.527000 70 115 0 0 0.003610 0 0 MALAT1 378938 broad.mit.edu 37 11 65273374 65273374 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:65273374G>A ENST00000534336.1 + 0 8142 NR_002819.2 GAGTGGCTGAGAGGGCTTTTG 0.433000 23 61 0 0 0.002299 0 0 GAR1 54433 broad.mit.edu 37 4 110743579 110743579 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:110743579G>A ENST00000226796.6 + 5 770 c.506G>A c.(505-507)aGa>aAa p.R169K GAR1_ENST00000394631.3_Missense_Mutation_p.R169K NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 169 RGG-box 2. rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 GGACCTCCaagaggtggtggc 0.483000 6 24 0 0 0.001984 0 0 ENDOD1 23052 broad.mit.edu 37 11 94862153 94862153 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:94862153C>T ENST00000278505.4 + 2 1031 c.913C>T c.(913-915)Ctt>Ttt p.L305F NM_015036.2 NP_055851.1 O94919 ENDD1_HUMAN endonuclease domain containing 1 305 extracellular region endonuclease activity|metal ion binding|nucleic acid binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) TTCTAGTCCCCTTTCTAGCAC 0.448000 22 29 0 0 0.002299 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51631291 51631291 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:51631291C>T ENST00000440804.3 + 5 1168 c.1101C>T c.(1099-1101)ttC>ttT p.F367F SIGLEC9_ENST00000250360.3_Silent_p.F367F NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 367 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GCGTCATCTTCGTTGTGTAAG 0.612000 65 119 0 0 0.003610 0 0 CHFR 55743 broad.mit.edu 37 12 133438075 133438075 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:133438075G>A ENST00000266880.7 - 7 828 c.765C>T c.(763-765)ccC>ccT p.P255P CHFR_ENST00000315585.7_Silent_p.P214P|CHFR_ENST00000443047.2_Silent_p.P163P|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Silent_p.P243P|CHFR_ENST00000432561.2_Silent_p.P255P Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 255 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P255P(1)|p.P214P(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TCTTCTTCACGGGCTCCAAAT 0.567000 20 58 0 0 0.002780 0 0 SIMC1 375484 broad.mit.edu 37 5 175717911 175717911 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:175717911C>T ENST00000443967.1 + 4 1734 c.1327C>T c.(1327-1329)Cat>Tat p.H443Y SIMC1_ENST00000429602.2_Missense_Mutation_p.H462Y|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron SUMO-interacting motifs containing 1 TCCTCCGGTTCATCACCTCTT 0.498000 11 18 0 0 0.008291 0 0 TEX15 56154 broad.mit.edu 37 8 30701385 30701385 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:30701385G>A ENST00000256246.2 - 1 5223 c.5149C>T c.(5149-5151)Cga>Tga p.R1717* NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1717 p.R1717*(1) NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGCAAGCTTCGCAATGTTGGT 0.388000 25 47 0 0 0.003330 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765932 18765932 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:18765932C>T ENST00000304081.4 - 4 671 c.571G>A c.(571-573)Ggg>Agg p.G191R NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.G251R|NT5C1B_ENST00000359846.2_Missense_Mutation_p.G251R|NT5C1B_ENST00000600945.1_Missense_Mutation_p.G251R NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GGGTAGATCCCCCTGCGCTGG 0.672000 4 14 0 0 0.000602 0 0 MTMR3 8897 broad.mit.edu 37 22 30405059 30405059 + Silent SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:30405059T>G ENST00000333027.3 + 12 1390 c.1062T>G c.(1060-1062)tcT>tcG p.S354S MTMR3_ENST00000406629.1_Silent_p.S354S|MTMR3_ENST00000401950.2_Silent_p.S354S|MTMR3_ENST00000351488.3_Silent_p.S354S|MTMR3_ENST00000323630.5_Silent_p.S218S|CTA-85E5.10_ENST00000429350.1_RNA NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 354 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) ACATTCATTCTATTCGGAGGA 0.423000 52 119 0 0 0.003610 0 0 IL5RA 3568 broad.mit.edu 37 3 3133936 3133936 + Nonsense_Mutation SNP C C T rs17878935 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:3133936C>T ENST00000446632.2 - 9 1540 c.966G>A c.(964-966)tgG>tgA p.W322* IL5RA_ENST00000383846.1_Nonsense_Mutation_p.W322*|IL5RA_ENST00000456302.1_Nonsense_Mutation_p.W322*|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000430514.2_Nonsense_Mutation_p.W322*|IL5RA_ENST00000438560.1_Nonsense_Mutation_p.W322*|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000311981.8_Nonsense_Mutation_p.W322*|IL5RA_ENST00000256452.3_Nonsense_Mutation_p.W322* NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 322 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TCCACTCACTCCAGAGCCCTG 0.428000 27 49 0 0 0.007291 0 0 NFASC 23114 broad.mit.edu 37 1 204923368 204923368 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:204923368G>A ENST00000367172.4 + 6 596 c.268G>A c.(268-270)Gtg>Atg p.V90M NFASC_ENST00000338586.6_Missense_Mutation_p.V90M|NFASC_ENST00000403080.1_Missense_Mutation_p.V90M|NFASC_ENST00000360049.4_Missense_Mutation_p.V84M|NFASC_ENST00000338515.6_Missense_Mutation_p.V90M|NFASC_ENST00000367169.4_Missense_Mutation_p.V90M|NFASC_ENST00000513543.1_Missense_Mutation_p.V84M|NFASC_ENST00000401399.1_Missense_Mutation_p.V90M|NFASC_ENST00000367171.4_Missense_Mutation_p.V90M|NFASC_ENST00000539706.1_Missense_Mutation_p.V84M|NFASC_ENST00000367170.4_Missense_Mutation_p.V90M|NFASC_ENST00000404076.1_Missense_Mutation_p.V84M|NFASC_ENST00000404907.1_Missense_Mutation_p.V84M|NFASC_ENST00000339876.6_Missense_Mutation_p.V90M O94856 NFASC_HUMAN neurofascin 90 Ig-like C2-type 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGACCCCCGGGTGTCCATGAG 0.597000 15 34 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179592435 179592435 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179592435A>G ENST00000589042.1 - 68 20094 c.19870T>C c.(19870-19872)Ttg>Ctg p.L6624L TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L5380L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L6307L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6307 Ig-like 47. 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) GACCCTTCCAAGCCAATGAAA 0.393000 85 226 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179466620 179466620 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179466620C>T ENST00000589042.1 - 285 55515 c.55291G>A c.(55291-55293)Gaa>Aaa p.E18431K TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9491K|TTN_ENST00000342992.6_Missense_Mutation_p.E15863K|TTN_ENST00000460472.2_Missense_Mutation_p.E9366K|TTN_ENST00000342175.6_Missense_Mutation_p.E9558K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16790K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16790 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) TGTGCATCTTCGGGTATGTCA 0.303000 23 26 0 0 0.001882 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73045798 73045798 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:73045798C>T ENST00000545377.1 + 3 346 c.170C>T c.(169-171)tCc>tTc p.S57F ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S57F|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S57F|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S57F|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.S57F|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S57F NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GTTCTCCAGTCCAGCGTCCCA 0.493000 35 72 0 0 0.006230 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188271 140188271 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140188271G>A ENST00000530339.1 + 1 1499 c.1499G>A c.(1498-1500)gGg>gAg p.G500E PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G500E|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G500E NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCGGGTAGGGGAGCGCGCG 0.657000 14 30 0 0 0.002450 0 0 USP29 57663 broad.mit.edu 37 19 57640998 57640998 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:57640998C>T ENST00000254181.4 + 4 1409 c.955C>T c.(955-957)Cca>Tca p.P319S USP29_ENST00000598197.1_Missense_Mutation_p.P319S NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 319 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCAAGGTGTCCCATGGGAATA 0.408000 31 65 0 0 0.002445 0 0 BNC2 54796 broad.mit.edu 37 9 16552546 16552546 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:16552546G>A ENST00000380672.4 - 5 708 c.651C>T c.(649-651)gtC>gtT p.V217V BNC2_ENST00000545497.1_Silent_p.V122V|BNC2_ENST00000380666.2_Silent_p.V217V|BNC2_ENST00000380667.2_Silent_p.V150V NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) TGTATCCTCGGACATAGTCCC 0.597000 11 10 0 0 0.008291 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110520326 110520326 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:110520326G>A ENST00000378402.5 + 70 11332 c.11227_splice c.e70-1 p.G3743_splice NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3743 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATGTTTCTAGGAATTATTAGA 0.323000 HNSCC(38;0.096) 10 36 0 0 0.006214 0 0 RGS7BP 401190 broad.mit.edu 37 5 63803695 63803695 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:63803695C>T ENST00000334025.2 + 2 649 c.323C>T c.(322-324)gCc>gTc p.A108V RGS7BP_ENST00000508162.1_Intron NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 108 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) AAATTGGCTGCCATCTCAGGG 0.498000 13 29 0 0 0.002450 0 0 COBLL1 22837 broad.mit.edu 37 2 165551668 165551668 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:165551668G>A ENST00000375458.2 - 11 2455 c.2234C>T c.(2233-2235)tCg>tTg p.S745L COBLL1_ENST00000342193.4_Missense_Mutation_p.S783L|COBLL1_ENST00000409184.3_Missense_Mutation_p.S783L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S821L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S850L NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 821 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 CCAGTCTTTCGATATTTCCAA 0.378000 45 94 0 0 0.003214 0 0 FAM86DP 692099 broad.mit.edu 37 3 75471402 75471402 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:75471402G>A ENST00000459803.1 - 0 1739 NR_024241.1 GCCAGAAGCTGAAATGACGGC 0.572000 4 5 0 0 0.000602 0 0 ARAP1 116985 broad.mit.edu 37 11 72407631 72407631 + Missense_Mutation SNP G G A rs146883151 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:72407631G>A ENST00000359373.5 - 23 4086 c.3235C>T c.(3235-3237)Cgg>Tgg p.R1079W ARAP1_ENST00000334211.8_Missense_Mutation_p.R834W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1079W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R773W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R834W|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1079W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R839W|ARAP1_ENST00000495878.1_5'UTR Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1079 Rho-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding p.R839W(1)|p.R1079W(1) cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 ACTGTGGCCCGGTTGACAGGG 0.567000 144 225 0 0 0.003610 0 0 SSRP1 6749 broad.mit.edu 37 11 57099700 57099700 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:57099700G>A ENST00000278412.2 - 8 1193 c.927C>T c.(925-927)tcC>tcT p.S309S NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 309 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding p.S309S(1) breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 TCTCATAGAGGGATCCTGACA 0.527000 13 59 0 0 0.001368 0 0 JPH4 84502 broad.mit.edu 37 14 24040471 24040471 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:24040471G>A ENST00000397118.3 - 6 2371 c.1469C>T c.(1468-1470)tCc>tTc p.S490F JPH4_ENST00000356300.4_Missense_Mutation_p.S490F|JPH4_ENST00000544177.1_Missense_Mutation_p.S155F NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 490 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) TTTGGGGCTGGAGAAGGGACC 0.682000 41 72 0 0 0.006230 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33628245 33628245 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:33628245C>T ENST00000321505.4 + 13 4227 c.4047C>T c.(4045-4047)gcC>gcT p.A1349A KIAA1549L_ENST00000389726.3_Silent_p.A1355A KIAA1549-like GCAAGGTGGCCGCTGAACCCT 0.542000 13 32 0 0 0.003163 0 0 FLRT1 23769 broad.mit.edu 37 11 63884171 63884171 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:63884171G>A ENST00000246841.3 + 2 1475 c.432G>A c.(430-432)agG>agA p.R144R MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 116 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 CCATTGCCAGGGACTCGCTGG 0.607000 7 47 0 0 0.001984 0 0 ADD2 119 broad.mit.edu 37 2 70931583 70931583 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:70931583C>T ENST00000264436.3 - 4 636 c.192G>A c.(190-192)agG>agA p.R64R ADD2_ENST00000407644.2_Silent_p.R64R|ADD2_ENST00000355733.3_Silent_p.R64R|ADD2_ENST00000413157.2_Silent_p.R64R|ADD2_ENST00000430656.1_Silent_p.R80R NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 64 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CCAGCTCCTCCCTGAAAGACT 0.607000 21 33 0 0 0.002299 0 0 OR51B4 79339 broad.mit.edu 37 11 5322921 5322921 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:5322921C>T ENST00000380224.1 - 1 305 c.256G>A c.(256-258)Gac>Aac p.D86N HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCCTCTGGTCTAGCAGCAGG 0.512000 28 51 0 0 0.006320 0 0 STAG3 10734 broad.mit.edu 37 7 99802737 99802737 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:99802737C>T ENST00000426455.1 + 28 3468 c.3061C>T c.(3061-3063)Cat>Tat p.H1021Y STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.H963Y|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.H1021Y|GATS_ENST00000543273.1_RNA Q9UJ98 STAG3_HUMAN stromal antigen 3 1021 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCGACTCTTCCATCAGGACAA 0.537000 200 81 0 0 0.003610 0 0 ZNF608 57507 broad.mit.edu 37 5 123982551 123982551 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:123982551T>C ENST00000306315.5 - 4 3961 c.3526A>G c.(3526-3528)Aaa>Gaa p.K1176E ZNF608_ENST00000504926.1_Missense_Mutation_p.K749E NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1176 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TCCTCAGTTTTATTAGGCACT 0.458000 48 110 0 0 0.003610 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103440442 103440442 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:103440442G>A ENST00000361246.2 - 12 1840 c.1552C>T c.(1552-1554)Cgc>Tgc p.R518C NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 518 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CGCTCTTGGCGAAGCGCCACT 0.557000 15 28 0 0 0.004990 0 0 OR10G7 390265 broad.mit.edu 37 11 123909443 123909443 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:123909443C>T ENST00000330487.5 - 1 274 c.266G>A c.(265-267)aGg>aAg p.R89K NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GGAGATAGTCCTGCCGCTTGG 0.522000 27 233 0 0 0.008361 0 0 DCAF16 54876 broad.mit.edu 37 4 17805434 17805434 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:17805434G>A ENST00000382247.1 - 3 1391 c.331C>T c.(331-333)Cct>Tct p.P111S DCAF16_ENST00000536863.1_Missense_Mutation_p.P111S NM_017741.3 NP_060211.3 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 111 CUL4 RING ubiquitin ligase complex cervix(1)|endometrium(1)|lung(2)|ovary(1) 5 GGCCATTCAGGAATTGGTTCC 0.498000 53 104 0 0 0.003610 0 0 SLC45A1 50651 broad.mit.edu 37 1 8390856 8390856 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:8390856C>T ENST00000471889.1 + 5 1688 c.1303C>T c.(1303-1305)Ctg>Ttg p.L435L SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.L469L|SLC45A1_ENST00000289877.8_Silent_p.L435L Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 435 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CGGGGACATTCTGAGGGTGGG 0.662000 33 44 0 0 0.002836 0 0 MASP1 5648 broad.mit.edu 37 3 186954275 186954275 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:186954275G>A ENST00000296280.6 - 11 1609 c.1384C>T c.(1384-1386)Ccg>Tcg p.P462S MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.P349S|MASP1_ENST00000495249.1_Intron NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 461 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GCCTGCCACGGGAAGAGGCCA 0.602000 28 109 0 0 0.002096 0 0 IGSF9B 22997 broad.mit.edu 37 11 133800931 133800931 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:133800931G>A ENST00000321016.8 - 11 1697 c.1467C>T c.(1465-1467)gtC>gtT p.V489V IGSF9B_ENST00000533871.2_Silent_p.V489V Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 489 Ig-like 5. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CGTTGGTGGCGACACATTCCC 0.662000 6 32 0 0 0.001168 0 0 DNAH10 196385 broad.mit.edu 37 12 124270434 124270434 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:124270434G>A ENST00000409039.3 + 9 1214 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 397 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CATCGCCTGGGAAATCGCTGA 0.498000 17 54 0 0 0.006122 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382633 41382633 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:41382633G>A ENST00000377801.3 - 2 181 c.107C>T c.(106-108)tCt>tTt p.S36F PLCXD3_ENST00000328457.3_Missense_Mutation_p.S36F Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 36 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.S36Y(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGAATCATGAGACCCTAGGAG 0.463000 20 40 0 0 0.008871 0 0 CYP2A7 1549 broad.mit.edu 37 19 41387627 41387627 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:41387627G>A ENST00000301146.4 - 2 751 c.210C>T c.(208-210)acC>acT p.T70T CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 70 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCAAGTGAATGGTGAACACGG 0.642000 12 29 0 0 0.001368 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181021 19181021 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:19181021C>T ENST00000375371.3 - 3 964 c.943G>A c.(943-945)Gag>Aag p.E315K RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 315 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGGCGCAGCTCCGTGAGGTTG 0.657000 10 37 0 0 0.001368 0 0 ITIH1 3697 broad.mit.edu 37 3 52818456 52818456 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:52818456G>A ENST00000273283.2 + 11 1394 c.1370G>A c.(1369-1371)aGa>aAa p.R457K ITIH1_ENST00000537050.1_Missense_Mutation_p.R169K|ITIH1_ENST00000540715.1_Missense_Mutation_p.R315K|ITIH1_ENST00000542827.1_Missense_Mutation_p.R457K NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 457 Hyaluronan-binding. 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) CGGGCCCAGAGAATCTACGAG 0.587000 18 51 0 0 0.008871 0 0 RIMS1 22999 broad.mit.edu 37 6 73110358 73110358 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:73110358G>A ENST00000264839.7 + 30 4568 c.4568G>A c.(4567-4569)cGg>cAg p.R1523Q RIMS1_ENST00000517960.1_Missense_Mutation_p.R1457Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R808Q|RIMS1_ENST00000414192.2_Missense_Mutation_p.R201Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1463Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.R480Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1273Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R799Q|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1457Q|RIMS1_ENST00000401910.3_Missense_Mutation_p.R994Q|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1674Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1353Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1324Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R742Q Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1674 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) CCCCTCACCCGGCGGGCTTCC 0.498000 33 59 0 0 0.004878 0 0 TNR 7143 broad.mit.edu 37 1 175299289 175299289 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:175299289G>A ENST00000367674.1 - 21 4422 c.3714C>T c.(3712-3714)ttC>ttT p.F1238F RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Silent_p.F1238F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1238 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CGTAGGAGGCGAAGGCGGCCT 0.577000 16 31 0 0 0.004007 0 0 DSEL 92126 broad.mit.edu 37 18 65180052 65180052 + Silent SNP G G A rs149858062 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:65180052G>A ENST00000310045.7 - 2 3297 c.1824C>T c.(1822-1824)gtC>gtT p.V608V CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 598 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) AGAAGGCACTGACAGAATTTA 0.348000 16 16 0 0 0.004990 0 0 WDR72 256764 broad.mit.edu 37 15 53908079 53908079 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:53908079G>A ENST00000396328.1 - 15 2563 c.2324C>T c.(2323-2325)tCc>tTc p.S775F WDR72_ENST00000559418.1_Missense_Mutation_p.S785F|WDR72_ENST00000360509.5_Missense_Mutation_p.S775F|WDR72_ENST00000557913.1_Missense_Mutation_p.S772F NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 775 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CATTTTTTTGGAGATCTTCAT 0.408000 44 61 0 0 0.002852 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998385 8998385 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:8998385G>A ENST00000310455.3 - 2 927 c.777C>T c.(775-777)ttC>ttT p.F259F PPP1R3B_ENST00000519699.1_Silent_p.F259F NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 259 glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) GAGGGCTTCCGAACTGGTCAA 0.507000 22 45 0 0 0.002780 0 0 MUC16 94025 broad.mit.edu 37 19 8973575 8973575 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:8973575G>A ENST00000397910.4 - 77 42944 c.42741C>T c.(42739-42741)ttC>ttT p.F14247F MUC16_ENST00000380951.5_Silent_p.F888F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14310 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCAGAAGCGGAATGTGTCAT 0.547000 5 9 0 0 0.001168 0 0 ZNF560 147741 broad.mit.edu 37 19 9577649 9577649 + Nonsense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9577649A>T ENST00000301480.4 - 10 2187 c.1974T>A c.(1972-1974)tgT>tgA p.C658* NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 658 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 CACATGCATTACATTTATAGG 0.378000 26 64 0 0 0.007291 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123705965 123705965 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:123705965G>T ENST00000606320.1 - 5 1032 c.826C>A c.(826-828)Ctt>Att p.L276I MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L124I|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L246I|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L124I Q99550 MPP9_HUMAN M-phase phosphoprotein 9 124 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TTTTCACCAAGAAAATTATGT 0.308000 8 35 0.00307968 0.00352989 0.003080 1 0 SLC9C2 284525 broad.mit.edu 37 1 173494046 173494046 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:173494046G>A ENST00000367714.3 - 20 2808 c.2386C>T c.(2386-2388)Cgt>Tgt p.R796C SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 796 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ACAACATCACGACCCTCATGC 0.348000 20 37 0 0 0.002299 0 0 EFCAB6 64800 broad.mit.edu 37 22 43972300 43972300 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:43972300C>T ENST00000262726.7 - 26 3550 c.3297G>A c.(3295-3297)aaG>aaA p.K1099K EFCAB6_ENST00000396231.2_Silent_p.K947K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1099 EF-hand 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AACAGAAATCCTTAAGAACTT 0.318000 23 65 0 0 0.004656 0 0 ZNF845 91664 broad.mit.edu 37 19 53854516 53854516 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:53854516C>T ENST00000458035.1 + 4 705 c.588C>T c.(586-588)ttC>ttT p.F196F ZNF845_ENST00000595091.1_Silent_p.F196F NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GGAATAATTTCCTGAATTCTT 0.363000 20 64 0 0 0.007413 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953474 8953474 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:8953474G>A ENST00000595891.1 + 3 351 c.120G>A c.(118-120)acG>acA p.T40T MBD3L1_ENST00000305625.2_Silent_p.T40T Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 1 40 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 GGCCAGTAACGAGAATTACAC 0.507000 18 46 0 0 0.006122 0 0 CGNL1 84952 broad.mit.edu 37 15 57835964 57835964 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:57835964C>T ENST00000281282.5 + 15 3440 c.3362C>T c.(3361-3363)tCc>tTc p.S1121F NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 1121 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GACAAGATTTCCCTGGAGAGG 0.567000 4 35 0 0 0.001168 0 0 HYDIN 54768 broad.mit.edu 37 16 71025992 71025992 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:71025992C>T ENST00000393567.2 - 24 3916 c.3766G>A c.(3766-3768)Gat>Aat p.D1256N HYDIN_ENST00000448089.2_Missense_Mutation_p.D1208N NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1256 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCATTTAAATCCATCTCGGGG 0.458000 15 18 0 0 0.002299 0 0 SMYD1 150572 broad.mit.edu 37 2 88405935 88405935 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:88405935C>T ENST00000419482.2 + 8 1158 c.1073C>T c.(1072-1074)tCg>tTg p.S358L SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.S345L NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 AGCATTGTTTCGGAGGTCCTT 0.522000 22 51 0 0 0.002780 0 0 DNAH10 196385 broad.mit.edu 37 12 124315133 124315133 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:124315133G>A ENST00000409039.3 + 25 4103 c.4078G>A c.(4078-4080)Gaa>Aaa p.E1360K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1360 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGTCTTTTTTGAAATGACCGA 0.373000 26 61 0 0 0.007291 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62604687 62604687 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:62604687G>A ENST00000281156.4 - 6 941 c.663C>T c.(661-663)ctC>ctT p.L221L NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 221 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) CCCGAGGGGTGAGAACACCTC 0.592000 18 28 0 0 0.004990 0 0 PCLO 27445 broad.mit.edu 37 7 82578962 82578962 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:82578962G>A ENST00000423517.2 - 6 11279 c.10942C>T c.(10942-10944)Cct>Tct p.P3648S PCLO_ENST00000333891.8_Missense_Mutation_p.P3648S|PCLO_ENST00000437081.1_Missense_Mutation_p.P368S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3579 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATATCATCAGGGAGGGGTTTT 0.468000 117 80 0 0 0.003610 0 0 PLA2G7 7941 broad.mit.edu 37 6 46677145 46677145 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:46677145T>A ENST00000274793.7 - 9 984 c.788A>T c.(787-789)gAt>gTt p.D263V PLA2G7_ENST00000537365.1_Missense_Mutation_p.D263V NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 263 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TTTTTCCCTATCAATAGAGTC 0.313000 30 46 0 0 0.005524 0 0 PDE6H 5149 broad.mit.edu 37 12 15134401 15134401 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:15134401G>A ENST00000266395.2 + 4 349 c.243G>A c.(241-243)ggG>ggA p.G81G NM_006205.2 NP_006196.1 Q13956 CNCG_HUMAN phosphodiesterase 6H, cGMP-specific, cone, gamma 81 visual perception 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity p.G81G(2) endometrium(1)|lung(6)|ovary(1)|skin(2) 10 CTCAGTTTGGGATTATCTGAA 0.473000 25 28 0 0 0.004656 0 0 AADAC 13 broad.mit.edu 37 3 151531955 151531955 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:151531955G>A ENST00000232892.6 + 1 131 c.5G>A c.(4-6)gGa>gAa p.G2E RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.G2E|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 2 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TTCACCATGGGAAGAAAATCG 0.433000 34 74 0 0 0.006230 0 0 METTL7B 196410 broad.mit.edu 37 12 56077639 56077639 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:56077639G>A ENST00000394252.3 + 2 750 c.541G>A c.(541-543)Gga>Aga p.G181R NM_152637.2 NP_689850.2 Q6UX53 MET7B_HUMAN methyltransferase like 7B 181 methyltransferase activity kidney(1)|large_intestine(1)|lung(4) 6 AGAACCATATGGAAGCTGGGC 0.542000 25 94 0 0 0.003954 0 0 DAAM1 23002 broad.mit.edu 37 14 59798110 59798110 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:59798110C>T ENST00000395125.1 + 13 1767 c.1744C>T c.(1744-1746)Ccc>Tcc p.P582S DAAM1_ENST00000351081.1_Missense_Mutation_p.P582S|DAAM1_ENST00000360909.3_Missense_Mutation_p.P582S NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 582 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AGGGCCTCCTCCCTTAGGGGC 0.622000 14 34 0 0 0.001855 0 0 CENPF 1063 broad.mit.edu 37 1 214813728 214813728 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:214813728C>T ENST00000366955.3 + 12 2215 c.2047C>T c.(2047-2049)Cac>Tac p.H683Y NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 683 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CAGAAACCTTCACAACGTGTT 0.418000 5 15 0 0 0.000602 0 0 OR10K2 391107 broad.mit.edu 37 1 158390030 158390030 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:158390030G>A ENST00000314902.2 - 1 626 c.627C>T c.(625-627)atC>atT p.I209I NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) ACAATAAGGGGATAGCCAGGA 0.448000 7 37 0 0 0.001984 0 0 MYEF2 50804 broad.mit.edu 37 15 48451901 48451901 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:48451901G>A ENST00000324324.7 - 6 905 c.626C>T c.(625-627)cCa>cTa p.P209L MYEF2_ENST00000267836.6_Missense_Mutation_p.P209L NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 209 transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TATGGAAGGTGGTAAATTCAT 0.448000 17 38 0 0 0.004990 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156975 26156975 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:26156975G>A ENST00000304218.3 + 1 417 c.357G>A c.(355-357)aaG>aaA p.K119K NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 119 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 CCAAGCCTAAGGCTAAAAAGG 0.647000 10 25 0 0 0.008291 0 0 NDST1 3340 broad.mit.edu 37 5 149901077 149901077 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:149901077C>T ENST00000261797.6 + 2 763 c.261C>T c.(259-261)gtC>gtT p.V87V NDST1_ENST00000523767.1_Silent_p.V87V NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 87 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGTGCTGGTCTTTGTGGAGA 0.662000 26 72 0 0 0.004656 0 0 MMP8 4317 broad.mit.edu 37 11 102592240 102592240 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:102592240G>A ENST00000236826.3 - 4 612 c.514C>T c.(514-516)Cca>Tca p.P172S NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 172 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) CCATCAAATGGAGAATTGTCA 0.433000 8 42 0 0 0.003080 0 0 TRPC7 57113 broad.mit.edu 37 5 135610433 135610433 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:135610433G>A ENST00000513104.1 - 4 1338 c.1056C>T c.(1054-1056)ttC>ttT p.F352F TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Silent_p.F291F NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 352 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGACAGCCAGGAATTTCACAG 0.468000 13 22 0 0 0.001855 0 0 OR51E2 81285 broad.mit.edu 37 11 4703752 4703752 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:4703752T>C ENST00000396950.3 - 2 429 c.190A>G c.(190-192)Atg>Gtg p.M64V NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) GCTGCAAGCATGCAGAGAAAG 0.502000 25 64 0 0 0.004656 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529451 5529451 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:5529451C>T ENST00000311659.4 - 2 1485 c.1338G>A c.(1336-1338)tcG>tcA p.S446S HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 446 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCCCAGCCCCGAGACAAGAT 0.542000 20 49 0 0 0.007413 0 0 CENPI 2491 broad.mit.edu 37 X 100402756 100402756 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:100402756C>T ENST00000372927.1 + 18 2108 c.1831C>T c.(1831-1833)Cgt>Tgt p.R611C CENPI_ENST00000218507.5_Missense_Mutation_p.R611C|CENPI_ENST00000423383.1_Missense_Mutation_p.R611C NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 611 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 TGTTAGATATCGTAAAAATTT 0.269000 17 13 0 0 0.001882 0 0 PTH1R 5745 broad.mit.edu 37 3 46944953 46944953 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:46944953G>A ENST00000449590.1 + 16 1792 c.1589G>A c.(1588-1590)gGc>gAc p.G530D PTH1R_ENST00000418619.1_Missense_Mutation_p.G530D|PTH1R_ENST00000313049.5_Missense_Mutation_p.G530D|PTH1R_ENST00000430002.2_Missense_Mutation_p.G530D NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 530 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 ACCACCAACGGCCACCCTCAG 0.682000 19 49 0 0 0.008871 0 0 DUSP22 56940 broad.mit.edu 37 6 348244 348244 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:348244C>T ENST00000604971.1 + 3 1209 c.96C>T c.(94-96)ctC>ctT p.L32L DUSP22_ENST00000605863.1_Silent_p.L32L|DUSP22_ENST00000605315.1_Silent_p.L32L|DUSP22_ENST00000344450.5_Silent_p.L135L|DUSP22_ENST00000603453.1_Silent_p.L32L|DUSP22_ENST00000419235.2_Silent_p.L135L|DUSP22_ENST00000605035.1_Silent_p.L32L Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 135 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) AGAGACAGCTCCAGGAGTTTG 0.572000 18 80 0 0 0.007413 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492948 21492948 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:21492948C>T ENST00000377142.4 - 2 791 c.435G>A c.(433-435)cgG>cgA p.R145R NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 145 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GCCGAAAGCGCCGCTCCAGCT 0.672000 9 20 0 0 0.008291 0 0 HYDIN 54768 broad.mit.edu 37 16 71101144 71101144 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:71101144C>T ENST00000288168.10 - 15 2188 c.2175G>A c.(2173-2175)caG>caA p.Q725Q HYDIN_ENST00000448691.1_Intron|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000541601.1_Intron|HYDIN_ENST00000538248.1_Intron|HYDIN_ENST00000393550.2_Intron|HYDIN_ENST00000448089.2_Intron|HYDIN_ENST00000393567.2_Intron Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CAGCCCATTACTGGAGGCTCG 0.562000 4 0 0 0 0.009096 0 0 C11orf54 28970 broad.mit.edu 37 11 93480597 93480597 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:93480597T>G ENST00000528288.1 + 2 273 c.38T>G c.(37-39)cTt>cGt p.L13R C11orf54_ENST00000354421.3_Missense_Mutation_p.L13R|C11orf54_ENST00000331239.4_Missense_Mutation_p.L13R|C11orf54_ENST00000540113.1_5'UTR|C11orf54_ENST00000528099.1_Missense_Mutation_p.L13R NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 13 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GTACCAAGTCTTGAAGAGCTT 0.313000 7 44 0 0 0.004482 0 0 MYBPH 4608 broad.mit.edu 37 1 203138156 203138156 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:203138156G>A ENST00000255416.4 - 9 1352 c.1295C>T c.(1294-1296)tCt>tTt p.S432F NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 432 Ig-like C2-type 2. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) GCCTTGCTCAGAGAGGGCGCG 0.552000 22 97 0 0 0.003330 0 0 MAP3K5 4217 broad.mit.edu 37 6 136944029 136944029 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:136944029G>A ENST00000359015.4 - 15 2467 c.2107C>T c.(2107-2109)Caa>Taa p.Q703* MAP3K5_ENST00000355845.4_Intron NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 703 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) ATTCTGACTTGGTTGCTCAAG 0.408000 64 138 0 0 0.003610 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258199 9258199 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:9258199T>G ENST00000383440.2 + 8 5122 c.4865T>G c.(4864-4866)tTg>tGg p.L1622W ANKRD12_ENST00000400020.3_Missense_Mutation_p.L1622W|ANKRD12_ENST00000262126.3_Missense_Mutation_p.L1645W NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1645 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TTAACTCATTTGAGTAGGTGT 0.368000 7 22 0 0 0.003080 0 0 PSD4 23550 broad.mit.edu 37 2 113943683 113943683 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:113943683G>A ENST00000245796.6 + 5 1674 c.1479G>A c.(1477-1479)ttG>ttA p.L493L PSD4_ENST00000441564.2_Silent_p.L465L NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 493 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTTCACTCTTGGAGACGGATG 0.567000 16 71 0 0 0.008871 0 0 MTMR3 8897 broad.mit.edu 37 22 30416768 30416768 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:30416768G>A ENST00000333027.3 + 17 3448 c.3120G>A c.(3118-3120)caG>caA p.Q1040Q MTMR3_ENST00000406629.1_Silent_p.Q1040Q|MTMR3_ENST00000401950.2_Silent_p.Q1040Q|MTMR3_ENST00000351488.3_Silent_p.Q1040Q|MTMR3_ENST00000323630.5_Silent_p.Q904Q|CTA-85E5.10_ENST00000429350.1_RNA NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 1040 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GCCACCAGCAGGAAGTAGAAA 0.547000 11 29 0 0 0.000978 0 0 ATP10A 57194 broad.mit.edu 37 15 25966940 25966940 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:25966940G>A ENST00000356865.6 - 7 1338 c.1227C>T c.(1225-1227)tgC>tgT p.C409C NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 409 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCAGAGCTCGGCACTGCAGCT 0.418000 22 79 0 0 0.003330 0 0 NTSR1 4923 broad.mit.edu 37 20 61340633 61340633 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:61340633G>A ENST00000370501.3 + 1 445 c.74G>A c.(73-75)gGa>gAa p.G25E NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 25 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) GCGCAGGCCGGACTGGAGGAG 0.751000 3 6 0 0 0.004672 0 0 MYH13 8735 broad.mit.edu 37 17 10231253 10231253 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10231253C>T ENST00000418404.3 - 21 2784 c.2621G>A c.(2620-2622)cGg>cAg p.R874Q MYH13_ENST00000570743.1_Missense_Mutation_p.R874Q|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R874Q Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 874 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CAGCTCCTTCCGGCGAGCCTC 0.537000 OREG0024177 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 32 0 0 0.002299 0 0 CYP2C18 1562 broad.mit.edu 37 10 96454799 96454799 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:96454799G>A ENST00000285979.6 + 4 806 c.607G>A c.(607-609)Gaa>Aaa p.E203K CYP2C18_ENST00000339022.5_Missense_Mutation_p.E203K|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) AAAATTCAATGAAAACCTCAG 0.378000 8 19 0 0 0.004482 0 0 SERPINA9 327657 broad.mit.edu 37 14 94933631 94933631 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:94933631C>T ENST00000337425.5 - 3 845 c.771G>A c.(769-771)atG>atA p.M257I SERPINA9_ENST00000380365.3_Missense_Mutation_p.M239I|SERPINA9_ENST00000424550.2_Missense_Mutation_p.M108I|SERPINA9_ENST00000546329.1_Missense_Mutation_p.M221I|SERPINA9_ENST00000448305.2_Missense_Mutation_p.M159I|SERPINA9_ENST00000298845.7_Missense_Mutation_p.M157I NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 239 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) TCTGGTGCATCATGGGGACAT 0.512000 12 30 0 0 0.004007 0 0 CHD3 1107 broad.mit.edu 37 17 7797852 7797852 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:7797852C>T ENST00000380358.4 + 8 1373 c.1372C>T c.(1372-1374)Cgt>Tgt p.R458C CHD3_ENST00000330494.7_Missense_Mutation_p.R399C|CHD3_ENST00000358181.4_Missense_Mutation_p.R399C NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 399 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CACCTGCCCTCGTGCCTACCA 0.577000 15 58 0 0 0.004007 0 0 STMN4 81551 broad.mit.edu 37 8 27101227 27101227 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:27101227C>T ENST00000350889.4 - 2 127 c.e2+1 STMN4_ENST00000265770.7_Splice_Site|STMN4_ENST00000519997.1_Intron|STMN4_ENST00000522908.1_Splice_Site|STMN4_ENST00000523048.1_Splice_Site|STMN4_ENST00000519614.1_Splice_Site NM_030795.2 NP_110422.2 Q9H169 STMN4_HUMAN stathmin-like 4 intracellular signal transduction endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 11 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) TTTGTACCTACCAGCAAGGGT 0.522000 17 54 0 0 0.006122 0 0 MSH4 4438 broad.mit.edu 37 1 76349430 76349430 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:76349430C>T ENST00000263187.3 + 15 2135 c.2031C>T c.(2029-2031)atC>atT p.I677I NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 677 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 ATTTTTTGATCATAACTGGAC 0.343000 Mismatch excision repair (MMR) 20 57 0 0 0.001882 0 0 ETV4 2118 broad.mit.edu 37 17 41611318 41611318 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:41611318C>T ENST00000319349.5 - 6 590 c.292G>A c.(292-294)Gag>Aag p.E98K ETV4_ENST00000591713.1_Missense_Mutation_p.E98K|ETV4_ENST00000545954.1_Missense_Mutation_p.E59K|ETV4_ENST00000545089.1_Missense_Mutation_p.E98K|ETV4_ENST00000538265.1_Missense_Mutation_p.E59K|ETV4_ENST00000393664.2_Missense_Mutation_p.E98K NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 98 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) CTCTGGGGCTCCTTCTTGATC 0.647000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 7 12 0 0 0.003080 0 0 DHX57 90957 broad.mit.edu 37 2 39029908 39029908 + Silent SNP G G A rs146662521 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:39029908G>A ENST00000295373.6 - 23 4092 c.3966C>T c.(3964-3966)ttC>ttT p.F1322F NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 1322 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) GGGAGACAACGAACTCTCCTC 0.507000 39 84 0 0 0.005524 0 0 TP63 8626 broad.mit.edu 37 3 189582116 189582116 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:189582116C>T ENST00000264731.3 + 5 764 c.675C>T c.(673-675)atC>atT p.I225I TP63_ENST00000320472.5_Silent_p.I225I|TP63_ENST00000392463.2_Silent_p.I131I|TP63_ENST00000382063.4_Silent_p.I140I|TP63_ENST00000354600.5_Silent_p.I131I|TP63_ENST00000449992.1_Silent_p.I46I|TP63_ENST00000392460.3_Silent_p.I225I|TP63_ENST00000418709.2_Silent_p.I225I|TP63_ENST00000456148.1_Silent_p.I131I|TP63_ENST00000437221.1_Silent_p.I131I|TP63_ENST00000440651.2_Silent_p.I225I|TP63_ENST00000392461.3_Silent_p.I131I NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 225 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GAGCTGTTATCCGCGCCATGC 0.527000 HNSCC(45;0.13) 38 93 0 0 0.006230 0 0 ATXN2L 11273 broad.mit.edu 37 16 28847424 28847424 + Silent SNP C C T rs1140135 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:28847424C>T ENST00000336783.4 + 22 3233 c.3066C>T c.(3064-3066)ccC>ccT p.P1022P ATXN2L_ENST00000570200.1_Silent_p.P1022P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Silent_p.P1022P|ATXN2L_ENST00000564304.1_Silent_p.P1028P|ATXN2L_ENST00000382686.4_Silent_p.P1022P|ATXN2L_ENST00000395547.2_Silent_p.P1022P|ATXN2L_ENST00000325215.6_Silent_p.P1022P NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 1022 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CACCCTACCCCTACATCGGAC 0.637000 23 33 0 0 0.002780 0 0 PTPRD 5789 broad.mit.edu 37 9 8633401 8633401 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:8633401G>A ENST00000381196.4 - 11 811 c.268C>T c.(268-270)Ccg>Tcg p.P90S PTPRD_ENST00000356435.5_Missense_Mutation_p.P90S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P90S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P90S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P90S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P90S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P90S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P90S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P90S|PTPRD_ENST00000463477.1_Missense_Mutation_p.P90S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P90S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P90S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 90 Ig-like C2-type 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCATCCCTCGGAGTCCGTAAG 0.438000 TSP Lung(15;0.13) 27 28 0 0 0.006320 0 0 PKD1L2 114780 broad.mit.edu 37 16 81241209 81241209 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:81241209G>A ENST00000599697.1 - 5 791 c.792C>T c.(790-792)ttC>ttT p.F264F PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 264 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGTCAAAGATGAAACTCTCAC 0.438000 34 67 0 0 0.004878 0 0 CATSPERG 57828 broad.mit.edu 37 19 38861407 38861407 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:38861407C>T ENST00000409235.3 + 29 3570 c.3455C>T c.(3454-3456)gCc>gTc p.A1152V CATSPERG_ENST00000410018.1_Missense_Mutation_p.A1112V|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 1152 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CCCAAGGAAGCCGTGGAGAGA 0.557000 29 65 0 0 0.009535 0 0 CASQ2 845 broad.mit.edu 37 1 116283393 116283393 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:116283393C>T ENST00000261448.5 - 3 615 c.376G>A c.(376-378)Gat>Aat p.D126N CASQ2_ENST00000456138.2_Intron NM_001232.3 NP_001223.2 O14958 CASQ2_HUMAN calsequestrin 2 (cardiac muscle) 126 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 18 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AACTCGCCATCAAACTCTATT 0.448000 17 18 0 0 0.001882 0 0 CELA2B 51032 broad.mit.edu 37 1 15808812 15808812 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:15808812G>A ENST00000375910.3 + 4 305 c.280G>A c.(280-282)Gag>Aag p.E94K CELA2B_ENST00000494280.1_3'UTR NM_015849.2 NP_056933.2 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 94 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 CTACGTTGCAGAGTCCGGCTC 0.592000 28 56 0 0 0.005443 0 0 PRSS58 136541 broad.mit.edu 37 7 141952147 141952147 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:141952147C>T ENST00000552471.1 - 5 939 c.620G>A c.(619-621)gGa>gAa p.G207E PRSS58_ENST00000547058.2_Missense_Mutation_p.G207E Q8IYP2 PRS58_HUMAN protease, serine, 58 207 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AGACAGGATTCCTTGAAGCAT 0.398000 21 13 0 0 0.001882 0 0 ST18 9705 broad.mit.edu 37 8 53030941 53030941 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:53030941G>A ENST00000276480.7 - 24 3499 c.2816C>T c.(2815-2817)tCc>tTc p.S939F NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 939 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTTAAGGTTGGATTCATTCAG 0.323000 14 52 0 0 0.003163 0 0 HIVEP2 3097 broad.mit.edu 37 6 143074834 143074834 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:143074834G>A ENST00000367603.2 - 10 7493 c.6751C>T c.(6751-6753)Ccc>Tcc p.P2251S HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2251S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2251S|RP1-67K17.3_ENST00000437067.1_RNA NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GGCAATGTGGGTGAAGGATGT 0.562000 24 49 0 0 0.002299 0 0 CARF 79800 broad.mit.edu 37 2 203807494 203807494 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:203807494C>T ENST00000320443.8 + 4 1153 c.110C>T c.(109-111)tCc>tTc p.S37F CARF_ENST00000545253.1_Intron|CARF_ENST00000434998.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.S37F|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000402905.2_Missense_Mutation_p.S37F|WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.S37F|CARF_ENST00000414439.1_Intron|CARF_ENST00000456821.2_Missense_Mutation_p.S25F|CARF_ENST00000428585.1_Intron calcium responsive transcription factor AGGGATTCTTCCTTTGGACAA 0.353000 118 250 0 0 0.003610 0 0 ADSSL1 122622 broad.mit.edu 37 14 105207039 105207039 + Missense_Mutation SNP C C T rs144784529 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:105207039C>T ENST00000332972.5 + 6 866 c.707C>T c.(706-708)tCc>tTc p.S236F ADSSL1_ENST00000330877.2_Missense_Mutation_p.S193F NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 193 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GATGAGTTTTCCTCCAGGTAC 0.597000 25 66 0 0 0.003330 0 0 TBX22 50945 broad.mit.edu 37 X 79286410 79286410 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:79286410C>T ENST00000442340.1 + 9 1493 c.1003C>T c.(1003-1005)Ctg>Ttg p.L335L TBX22_ENST00000373294.5_Silent_p.L455L|TBX22_ENST00000373291.1_Silent_p.L335L|TBX22_ENST00000373296.3_Silent_p.L455L NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 455 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AAATATTTTTCTGCCAAACTC 0.383000 22 11 0 0 0.002780 0 0 RYR2 6262 broad.mit.edu 37 1 237870339 237870339 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:237870339C>T ENST00000366574.2 + 68 9988 c.9671C>T c.(9670-9672)tCc>tTc p.S3224F RYR2_ENST00000542537.1_Missense_Mutation_p.S3208F|RYR2_ENST00000360064.6_Missense_Mutation_p.S3222F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3224 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) TTAGCCGAGTCCGGCATTCGC 0.468000 30 98 0 0 0.002445 0 0 PKHD1 5314 broad.mit.edu 37 6 51918901 51918901 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:51918901G>A ENST00000371117.3 - 20 2174 c.1899C>T c.(1897-1899)atC>atT p.I633I PKHD1_ENST00000340994.4_Silent_p.I633I NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 633 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TTTGAAAGCCGATTGTGAAGG 0.478000 19 39 0 0 0.007413 0 0 CCDC85A 114800 broad.mit.edu 37 2 56611444 56611444 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:56611444G>A ENST00000407595.2 + 6 2118 c.1616G>A c.(1615-1617)gGa>gAa p.G539E RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 539 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCGTGTCCTGGAATTAGGCAA 0.408000 15 46 0 0 0.006122 0 0 TET2 54790 broad.mit.edu 37 4 106155146 106155146 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:106155146C>T ENST00000540549.1 + 3 907 c.47C>T c.(46-48)cCa>cTa p.P16L TET2_ENST00000380013.4_Missense_Mutation_p.P16L|TET2_ENST00000413648.2_Missense_Mutation_p.P16L|TET2_ENST00000305737.2_Missense_Mutation_p.P16L|TET2_ENST00000394764.1_Missense_Mutation_p.P16L|TET2_ENST00000513237.1_Missense_Mutation_p.P37L|TET2_ENST00000545826.1_Missense_Mutation_p.P16L Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 16 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) AGACTAAGTCCATTCCTGATA 0.498000 """Mis N, F""" MDS 8 27 0 0 0.003080 0 0 IGHG3 3502 broad.mit.edu 37 14 106235802 106235802 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:106235802G>A ENST00000390551.2 - 0 904 CGCTGGGGTAGAAGCCTTTGA 0.627000 73 139 0 0 0.003610 0 0 LTBP1 4052 broad.mit.edu 37 2 33500068 33500068 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:33500068C>T ENST00000404816.2 + 17 3133 c.2780C>T c.(2779-2781)tCc>tTc p.S927F LTBP1_ENST00000418533.2_Missense_Mutation_p.S601F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S928F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S602F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S548F|LTBP1_ENST00000402934.1_Missense_Mutation_p.S548F|LTBP1_ENST00000407925.1_Missense_Mutation_p.S601F Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 927 EGF-like 5; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CACCTCTGCTCCCAGGGCCGC 0.438000 23 52 0 0 0.002299 0 0 LRRC8D 55144 broad.mit.edu 37 1 90401047 90401047 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:90401047G>A ENST00000337338.5 + 3 2827 c.2420G>A c.(2419-2421)gGg>gAg p.G807E LRRC8D_ENST00000394593.3_Missense_Mutation_p.G807E NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 807 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GAGCTGAAGGGGAACTGCTTG 0.542000 20 25 0 0 0.001882 0 0 ZNF687 57592 broad.mit.edu 37 1 151259302 151259302 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:151259302C>T ENST00000368879.2 + 2 633 c.535C>T c.(535-537)Ccc>Tcc p.P179S NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 179 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCCGCTGCCTCCCTCTGCACC 0.617000 10 48 0 0 0.006214 0 0 ANKHD1 54882 broad.mit.edu 37 5 139893013 139893013 + Silent SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:139893013A>T ENST00000297183.6 + 24 4390 c.4266A>T c.(4264-4266)gcA>gcT p.A1422A ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.A1422A|ANKHD1_ENST00000360839.2_Silent_p.A1422A NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAAGCTGCAGAAGCAAATA 0.348000 14 29 0 0 0.003163 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74368272 74368272 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:74368272C>T ENST00000290438.3 - 8 659 c.619G>A c.(619-621)Gag>Aag p.E207K NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 207 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 AGCGCCCGCTCCTTTATGGTC 0.592000 22 251 0 0 0.003954 0 0 SYNE3 161176 broad.mit.edu 37 14 95923556 95923556 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:95923556C>T ENST00000334258.5 - 4 761 c.747G>A c.(745-747)cgG>cgA p.R249R SYNE3_ENST00000557275.1_Silent_p.R249R|SYNE3_ENST00000553340.1_Silent_p.R249R NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 GCTTGCAGTTCCGCCCCAGGC 0.622000 44 76 0 0 0.002522 0 0 SACS 26278 broad.mit.edu 37 13 23907707 23907707 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:23907707G>A ENST00000382298.3 - 10 10896 c.10308C>T c.(10306-10308)atC>atT p.I3436I SACS_ENST00000402364.1_Silent_p.I2686I|SACS_ENST00000382292.3_Silent_p.I3436I NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3436 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAGCTGAAGGGATACTTTTTG 0.358000 38 61 0 0 0.005524 0 0 SCN4A 6329 broad.mit.edu 37 17 62020281 62020281 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:62020281C>T ENST00000435607.1 - 23 4269 c.4193G>A c.(4192-4194)gGg>gAg p.G1398E SCN4A_ENST00000578147.1_Missense_Mutation_p.G1398E NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1398 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CACGCACTCCCCTGTGAAGAT 0.517000 22 54 0 0 0.002299 0 0 FAT3 120114 broad.mit.edu 37 11 92534496 92534496 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:92534496C>T ENST00000298047.6 + 9 8334 c.8317C>T c.(8317-8319)Cgt>Tgt p.R2773C FAT3_ENST00000525166.1_Missense_Mutation_p.R2623C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2773C Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2773 Cadherin 25. 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) ACGCCTTGACCGTGAAACCAG 0.443000 TCGA Ovarian(4;0.039) 90 329 0 0 0.003610 0 0 IGSF8 93185 broad.mit.edu 37 1 160062789 160062789 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:160062789G>A ENST00000368086.1 - 4 1453 c.1237C>T c.(1237-1239)Cga>Tga p.R413* IGSF8_ENST00000314485.7_Nonsense_Mutation_p.R413* Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 413 Ig-like C2-type 3. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCAGACCCTCGAACATAGGCT 0.652000 13 16 0 0 0.001855 0 0 LRRC55 219527 broad.mit.edu 37 11 56954888 56954888 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:56954888C>T ENST00000497933.1 + 2 1107 c.960C>T c.(958-960)ttC>ttT p.F320F NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 290 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CCACCAACTTCCTCCTGGGCA 0.572000 11 44 0 0 0.001855 0 0 CDHR2 54825 broad.mit.edu 37 5 176003025 176003025 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:176003025G>A ENST00000510636.1 + 12 1307 c.1033G>A c.(1033-1035)Gac>Aac p.D345N CDHR2_ENST00000506348.1_Missense_Mutation_p.D345N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D345N NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 345 Cadherin 3. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GAGAGTGATGGACGTCAATGA 0.582000 17 26 0 0 0.007413 0 0 GRIK3 2899 broad.mit.edu 37 1 37282712 37282712 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:37282712G>A ENST00000373091.3 - 13 2056 c.2040C>T c.(2038-2040)acC>acT p.T680T GRIK3_ENST00000373093.4_Silent_p.T680T NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 680 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) ACTCGATTTTGGTTTGCTTGG 0.557000 23 39 0 0 0.008361 0 0 PEAR1 375033 broad.mit.edu 37 1 156882687 156882687 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:156882687C>T ENST00000338302.3 + 19 2560 c.2335C>T c.(2335-2337)Cgg>Tgg p.R779W PEAR1_ENST00000292357.7_Missense_Mutation_p.R779W Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 779 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CATTGGCTATCGGCACTGGCA 0.602000 15 72 0 0 0.007413 0 0 ABCB5 340273 broad.mit.edu 37 7 20685612 20685612 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:20685612G>A ENST00000404938.2 + 9 1484 c.832G>A c.(832-834)Gat>Aat p.D278N NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 463 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AGATGCAAAGGATTTTGGCAT 0.353000 22 48 0 0 0.010504 0 0 PTPRD 5789 broad.mit.edu 37 9 8486155 8486155 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:8486155C>T ENST00000381196.4 - 25 3205 c.2662G>A c.(2662-2664)Gga>Aga p.G888R PTPRD_ENST00000356435.5_Missense_Mutation_p.G888R|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.G888R|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.G875R|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.G866R NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 888 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TATGATGCTCCCTTGTGGATG 0.463000 TSP Lung(15;0.13) 25 17 0 0 0.003954 0 0 MON2 23041 broad.mit.edu 37 12 62892735 62892735 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:62892735G>A ENST00000393630.3 + 5 863 c.472G>A c.(472-474)Gat>Aat p.D158N MON2_ENST00000552115.1_Missense_Mutation_p.D158N|MON2_ENST00000393629.2_Missense_Mutation_p.D158N|MON2_ENST00000393632.2_Missense_Mutation_p.D158N|MON2_ENST00000280379.6_Missense_Mutation_p.D158N|MON2_ENST00000546600.1_Missense_Mutation_p.D158N|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.D158N NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 158 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CTTCACAAAAGATAATATTAC 0.343000 24 55 0 0 0.002299 0 0 TMEM130 222865 broad.mit.edu 37 7 98457957 98457957 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:98457957G>A ENST00000450876.1 - 3 1459 c.144C>T c.(142-144)ttC>ttT p.F48F TMEM130_ENST00000416379.2_Silent_p.F132F|TMEM130_ENST00000546258.1_Silent_p.F113F|TMEM130_ENST00000345589.4_Silent_p.F30F|TMEM130_ENST00000339375.4_Silent_p.F132F Q8N3G9 TM130_HUMAN transmembrane protein 130 132 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCCCCACGAGGAACTCTGGGA 0.557000 16 40 0 0 0.004007 0 0 NOX3 50508 broad.mit.edu 37 6 155764548 155764548 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:155764548G>A ENST00000159060.2 - 5 447 c.345C>T c.(343-345)atC>atT p.I115I NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 115 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CCACGATGTGGATGGCTAGGA 0.527000 12 25 0 0 0.001368 0 0 SLC4A10 57282 broad.mit.edu 37 2 162661000 162661000 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:162661000G>A ENST00000375514.5 + 4 492 c.205G>A c.(205-207)Gga>Aga p.G69R SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G58R|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G58R|SLC4A10_ENST00000446997.1_Missense_Mutation_p.G58R|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G58R|SLC4A10_ENST00000535165.1_Missense_Mutation_p.G58R NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 58 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 GCCCTTGGGAGGAAGAAAAAG 0.433000 15 25 0 0 0.003163 0 0 ZNF100 163227 broad.mit.edu 37 19 21910166 21910166 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:21910166G>A ENST00000358296.6 - 5 1146 c.948C>T c.(946-948)ccC>ccT p.P316P ZNF100_ENST00000305570.6_Silent_p.P252P NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 TACATTTGTAGGGTTTCACTC 0.393000 18 36 0 0 0.007413 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73163826 73163826 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:73163826C>A ENST00000545377.1 + 19 2454 c.2278C>A c.(2278-2280)Cca>Aca p.P760T ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P760T|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P760T|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P760T|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.P760T|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P447T|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P760T NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CAGAAGTGTTCCAGGCACCAC 0.542000 8 20 0.00621372 0.00711682 0.006214 1 0 TTN 7273 broad.mit.edu 37 2 179589042 179589042 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179589042G>A ENST00000589042.1 - 72 21284 c.21060C>T c.(21058-21060)ttC>ttT p.F7020F RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F5776F|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F6703F|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6703 Ig-like 52. 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) TTTGAACCTGGAAAGTGTATG 0.398000 23 37 0 0 0.002299 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684323 75684323 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:75684323A>G ENST00000370855.5 - 17 1494 c.1381T>C c.(1381-1383)Tta>Cta p.L461L SLC44A5_ENST00000370859.3_Silent_p.L461L|SLC44A5_ENST00000535611.1_Silent_p.L331L NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 461 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 AAGACAAATAAGTTGTATACA 0.438000 19 42 0 0 0.007413 0 0 RUNX1T1 862 broad.mit.edu 37 8 92983071 92983071 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:92983071C>G ENST00000523629.1 - 11 1808 c.1354G>C c.(1354-1356)Gcc>Ccc p.A452P RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A415P|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A463P|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A452P|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A425P|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A425P|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A415P|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A415P NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 452 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TCATTGACGGCCTCCTCTGTG 0.507000 7 27 0 0 0.006214 0 0 PLCB4 5332 broad.mit.edu 37 20 9404516 9404516 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:9404516G>A ENST00000378501.2 + 24 2420 c.2405G>A c.(2404-2406)cGa>cAa p.R802Q PLCB4_ENST00000334005.3_Missense_Mutation_p.R802Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.R802Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.R814Q|PLCB4_ENST00000378493.1_Missense_Mutation_p.R802Q|PLCB4_ENST00000414679.2_Missense_Mutation_p.R814Q|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 802 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ATTTCCCTTCGAAATGAGGGA 0.408000 11 20 0 0 0.001368 0 0 S100A6 6277 broad.mit.edu 37 1 153507797 153507797 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:153507797G>A ENST00000496817.1 - 2 321 c.19C>T c.(19-21)Cag>Tag p.Q7* S100A6_ENST00000368719.4_Nonsense_Mutation_p.Q7*|S100A6_ENST00000368720.2_Nonsense_Mutation_p.Q7* P06703 S10A6_HUMAN S100 calcium binding protein A6 7 axonogenesis|positive regulation of fibroblast proliferation|signal transduction cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding ovary(1) 1 all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CCAATGGCCTGATCCAGGGGG 0.607000 32 44 0 0 0.003755 0 0 TRPM3 80036 broad.mit.edu 37 9 73477938 73477938 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:73477938G>A ENST00000377110.2 - 3 591 c.348C>T c.(346-348)tcC>tcT p.S116S TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000423814.3_Silent_p.S118S|TRPM3_ENST00000377111.2_Silent_p.S116S|TRPM3_ENST00000357533.2_Silent_p.S118S|TRPM3_ENST00000396283.1_5'UTR NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 116 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGTCATTTCGGGAGAGGCGAC 0.502000 36 46 0 0 0.004289 0 0 TTC21B 79809 broad.mit.edu 37 2 166805994 166805994 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:166805994G>A ENST00000243344.7 - 3 309 c.172C>T c.(172-174)Cga>Tga p.R58* AC010127.5_ENST00000440322.1_RNA NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 58 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 TCAAATTCTCGAAGAGCTTCT 0.308000 28 96 0 0 0.006320 0 0 SRRM4 84530 broad.mit.edu 37 12 119552115 119552115 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:119552115C>T ENST00000267260.4 + 3 699 c.311C>T c.(310-312)cCt>cTt p.P104L RP11-364C11.2_ENST00000537730.1_RNA NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 104 cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 ACACCACCACCTTCCTCCAGG 0.498000 6 15 0 0 0.001168 0 0 CATSPERG 57828 broad.mit.edu 37 19 38858385 38858385 + Missense_Mutation SNP G G A rs147603617 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:38858385G>A ENST00000409235.3 + 25 3014 c.2899G>A c.(2899-2901)Gaa>Aaa p.E967K CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 967 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CAGTGAGGACGAAATCTACCG 0.592000 91 189 0 0 0.003610 0 0 POLR2B 5431 broad.mit.edu 37 4 57883317 57883317 + Silent SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:57883317T>C ENST00000381227.1 + 16 2477 c.2064T>C c.(2062-2064)gcT>gcC p.A688A POLR2B_ENST00000441246.2_Silent_p.A681A|POLR2B_ENST00000431623.2_Silent_p.A613A|POLR2B_ENST00000314595.5_Silent_p.A688A P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 688 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) AAGAAGTAGCTTATTGTTCCA 0.418000 74 81 0 0 0.003610 0 0 LARP4 113251 broad.mit.edu 37 12 50855014 50855014 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:50855014A>G ENST00000398473.2 + 11 1330 c.1218A>G c.(1216-1218)agA>agG p.R406R LARP4_ENST00000518561.1_Silent_p.R336R|LARP4_ENST00000347328.5_Silent_p.R335R|LARP4_ENST00000522085.1_Silent_p.R406R|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000518444.1_Silent_p.R405R|LARP4_ENST00000429001.3_Silent_p.R412R NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 406 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 ATAGTTCAAGAAACTTTCCAG 0.478000 39 68 0 0 0.007835 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882983 228882983 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:228882983G>A ENST00000392056.3 - 7 2633 c.2587C>T c.(2587-2589)Cca>Tca p.P863S SPHKAP_ENST00000344657.5_Missense_Mutation_p.P863S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 863 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) CTGACCGTTGGGGACCTTTGT 0.493000 47 70 0 0 0.003610 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297865 139297865 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:139297865G>A ENST00000406164.1 - 4 594 c.31C>T c.(31-33)Cct>Tct p.P11S NMNAT3_ENST00000296202.7_Missense_Mutation_p.P48S|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000511444.1_Missense_Mutation_p.P11S|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000339837.5_Missense_Mutation_p.P11S|NMNAT3_ENST00000512391.1_Missense_Mutation_p.P48S Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 48 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 TCGTTGACAGGAGAGATGATA 0.557000 8 24 0 0 0.003080 0 0 UPF1 5976 broad.mit.edu 37 19 18971235 18971235 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:18971235C>T ENST00000262803.5 + 16 2560 c.2288C>T c.(2287-2289)tCc>tTc p.S763F UPF1_ENST00000599848.1_Missense_Mutation_p.S774F NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 774 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 TCGGGCACCTCCTACCTGAAC 0.547000 37 90 0 0 0.007835 0 0 PLB1 151056 broad.mit.edu 37 2 28823676 28823676 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:28823676G>A ENST00000422425.2 + 35 2486 c.2441_splice c.e35-1 p.E814_splice PLB1_ENST00000327757.5_Splice_Site_p.E825_splice NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 825 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TCTTTCTCAGGGATCTTATGA 0.418000 24 58 0 0 0.005443 0 0 NPY1R 4886 broad.mit.edu 37 4 164247100 164247100 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:164247100G>A ENST00000296533.2 - 2 1138 c.607C>T c.(607-609)Cca>Tca p.P203S NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 203 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GAGTCCGATGGAAATTGATCA 0.383000 8 27 0 0 0.003080 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36840903 36840903 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:36840903G>A ENST00000557188.1 + 0 534 AGAGAGAAAAGATGGCAAGAT 0.483000 15 24 0 0 0.003163 0 0 CDC34 997 broad.mit.edu 37 19 536311 536311 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:536311A>G ENST00000215574.4 + 3 551 c.333A>G c.(331-333)tcA>tcG p.S111S NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 111 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTGCCCTCAGAGAGGTGGA 0.642000 5 15 0 0 0.001984 0 0 IQCA1 79781 broad.mit.edu 37 2 237396808 237396808 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:237396808G>A ENST00000409907.3 - 4 757 c.483C>T c.(481-483)ttC>ttT p.F161F IQCA1_ENST00000309507.5_Silent_p.F157F|IQCA1_ENST00000431676.2_Silent_p.F161F Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 161 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CAGCCTCATCGAAAGGGATAC 0.398000 3 11 0 0 0.004672 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55052317 55052317 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:55052317G>A ENST00000474759.1 + 35 3008 c.2960G>A c.(2959-2961)gGg>gAg p.G987E CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G987E|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G987E|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G893E NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 987 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.G987>?(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GAGACTACAGGGAATATTGCT 0.512000 11 20 0 0 0.000978 0 0 TRAV13-2 28670 broad.mit.edu 37 14 22386445 22386445 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:22386445C>T ENST00000390439.2 + 0 83 GGCAGGCATTCGAGCTTTATT 0.418000 40 104 0 0 0.003610 0 0 SV2A 9900 broad.mit.edu 37 1 149883495 149883495 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:149883495G>A ENST00000369146.3 - 3 1150 c.660C>T c.(658-660)ttC>ttT p.F220F SV2A_ENST00000369145.1_Silent_p.F220F NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 220 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CTCCCCAGAGGAAGGCTCCCA 0.582000 5 14 0 0 0.000602 0 0 MRRF 92399 broad.mit.edu 37 9 125084878 125084878 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:125084878C>T ENST00000344641.3 + 7 1082 c.771C>T c.(769-771)acC>acT p.T257T MRRF_ENST00000297908.3_Silent_p.T205T|MRRF_ENST00000394315.3_3'UTR|MRRF_ENST00000373723.4_3'UTR|MRRF_ENST00000373729.1_Silent_p.T213T NM_138777.3 NP_620132.1 Q96E11 RRFM_HUMAN mitochondrial ribosome recycling factor 257 ribosome disassembly|translation mitochondrion sequence-specific DNA binding transcription factor activity breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 12 CAGTGAAGACCAAAGAACTCC 0.532000 13 18 0 0 0.004990 0 0 COL7A1 1294 broad.mit.edu 37 3 48612933 48612933 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:48612933C>T ENST00000328333.8 - 73 6126 c.6019G>A c.(6019-6021)Gac>Aac p.D2007N COL7A1_ENST00000454817.1_Missense_Mutation_p.D1975N NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2007 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTCCACGGTCGCCCTTCAGC 0.697000 5 14 0 0 0.000602 0 0 PDE1A 5136 broad.mit.edu 37 2 183129116 183129116 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:183129116C>T ENST00000435564.1 - 2 327 c.127G>A c.(127-129)Gaa>Aaa p.E43K PDE1A_ENST00000456212.1_Missense_Mutation_p.E43K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E43K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E27K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E43K|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.E27K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E43K NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 43 Calmodulin-binding (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCACCTCTTTCCAGCTGCTTC 0.353000 18 39 0 0 0.008871 0 0 GPR110 266977 broad.mit.edu 37 6 46988502 46988502 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:46988502A>G ENST00000371253.2 - 7 791 c.576T>C c.(574-576)atT>atC p.I192I GPR110_ENST00000371243.2_Silent_p.I192I|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 192 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CAAAACCTTGAATTCTTTCAT 0.388000 15 25 0 0 0.002450 0 0 OR6K2 81448 broad.mit.edu 37 1 158669785 158669785 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:158669785C>T ENST00000359610.2 - 1 701 c.658G>A c.(658-660)Gat>Aat p.D220N NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) ACAATACCATCGTAGGACATG 0.473000 34 55 0 0 0.002096 0 0 TLR7 51284 broad.mit.edu 37 X 12904432 12904432 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:12904432C>T ENST00000380659.3 + 3 944 c.805C>T c.(805-807)Cct>Tct p.P269S NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 269 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TGCCCCATTTCCTTGTGCGCC 0.373000 27 19 0 0 0.005443 0 0 MGAM 8972 broad.mit.edu 37 7 141752740 141752740 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:141752740C>T ENST00000475668.2 + 26 3169 c.3115C>T c.(3115-3117)Cgc>Tgc p.R1039C MGAM_ENST00000549489.2_Missense_Mutation_p.R1039C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1039 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAACCCCCTTCGCCTGGATGT 0.458000 62 18 0 0 0.003610 0 0 RGAG1 57529 broad.mit.edu 37 X 109694939 109694939 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:109694939C>T ENST00000465301.2 + 3 1340 c.1094C>T c.(1093-1095)cCa>cTa p.P365L RGAG1_ENST00000540313.1_Missense_Mutation_p.P365L NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 365 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 CAAACGATGCCAGCCCCAGGC 0.542000 105 81 0 0 0.003610 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151121952 151121952 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:151121952T>C ENST00000367328.1 + 7 1039 c.727T>C c.(727-729)Tcc>Ccc p.S243P PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S243P NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 243 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GCCTCTGGGGTCCTATCTCTT 0.498000 34 63 0 0 0.004289 0 0 COL4A4 1286 broad.mit.edu 37 2 227896882 227896882 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:227896882C>T ENST00000396625.3 - 39 3895 c.3688G>A c.(3688-3690)Ggt>Agt p.G1230S COL4A4_ENST00000329662.7_Missense_Mutation_p.G1230S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1230 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTGGGGGACCTTTCTTTCCA 0.522000 39 81 0 0 0.003610 0 0 KIAA1109 84162 broad.mit.edu 37 4 123161273 123161273 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:123161273T>C ENST00000264501.4 + 29 4809 c.4436T>C c.(4435-4437)cTa>cCa p.L1479P KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1479P|KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1479P Q2LD37 K1109_HUMAN KIAA1109 1479 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ATAGAACATCTATATATTGTA 0.403000 16 32 0 0 0.004007 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111595653 111595653 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:111595653G>A ENST00000261486.5 - 8 942 c.666C>T c.(664-666)ttC>ttT p.F222F NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 222 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TTAATCCTAAGAAATACTCAG 0.353000 20 42 0 0 0.002299 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222087 140222087 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140222087C>T ENST00000531613.1 + 1 1181 c.1181C>T c.(1180-1182)cCc>cTc p.P394L PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P394L NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCATGTCCCCTTCAAGCTG 0.567000 55 140 0 0 0.003610 0 0 TNXB 7148 broad.mit.edu 37 6 32037562 32037562 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:32037562G>A ENST00000375244.3 - 15 5556 c.5355C>T c.(5353-5355)acC>acT p.T1785T TNXB_ENST00000375247.2_Silent_p.T1785T P22105 TENX_HUMAN tenascin XB 1867 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGGTCACGGTGGTCACCTGCA 0.602000 121 309 0 0 0.003610 0 0 NRAP 4892 broad.mit.edu 37 10 115391667 115391667 + Silent SNP C C T rs139136683 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:115391667C>T ENST00000369358.4 - 17 1933 c.1689G>A c.(1687-1689)ctG>ctA p.L563L NRAP_ENST00000369360.3_Silent_p.L528L|NRAP_ENST00000360478.3_Silent_p.L528L|NRAP_ENST00000359988.3_Silent_p.L563L Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 563 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ACATGGCATCCAGCTTCATCT 0.443000 50 48 0 0 0.003610 0 0 BAGE2 85319 broad.mit.edu 37 21 11039377 11039377 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:11039377C>T ENST00000470054.1 - 0 826 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) AAGACATTTTCATTTCTTCAC 0.338000 8 138 0 0 0.004482 0 0 SLC30A10 55532 broad.mit.edu 37 1 220091654 220091654 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:220091654C>T ENST00000366926.3 - 3 1062 c.901G>A c.(901-903)Gag>Aag p.E301K SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.E56K NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 301 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GCAGCGGTCTCCTTGATAAGC 0.468000 26 103 0 0 0.004656 0 0 MPP1 4354 broad.mit.edu 37 X 154013346 154013346 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:154013346T>G ENST00000413259.3 - 8 1066 c.674A>C c.(673-675)tAt>tCt p.Y225S MPP1_ENST00000393531.1_Missense_Mutation_p.Y235S|MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000369534.3_Missense_Mutation_p.Y255S NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 255 SH3. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTTGGCCAGATATTTGTCTTT 0.522000 13 7 0 0 0.001855 0 0 NR4A2 4929 broad.mit.edu 37 2 157186171 157186171 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:157186171G>A ENST00000339562.4 - 3 890 c.528C>T c.(526-528)ttC>ttT p.F176F NR4A2_ENST00000539077.1_Silent_p.F187F|NR4A2_ENST00000409108.2_Silent_p.F176F|NR4A2_ENST00000426264.1_Silent_p.F113F|NR4A2_ENST00000409572.1_Silent_p.F176F|NR4A2_ENST00000429376.1_Silent_p.F113F NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 176 Pro-rich. cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 GCTTAAAGGAGAAGAGGGAGA 0.637000 55 154 0 0 0.003610 0 0 KIF2B 84643 broad.mit.edu 37 17 51900977 51900977 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:51900977C>T ENST00000268919.4 + 1 739 c.583C>T c.(583-585)Cgc>Tgc p.R195C NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 195 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 CGAAGAGTATCGCAGGCACCT 0.577000 14 46 0 0 0.002450 0 0 GRIA2 2891 broad.mit.edu 37 4 158256915 158256915 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:158256915C>T ENST00000296526.7 + 10 1684 c.1359C>T c.(1357-1359)atC>atT p.I453I GRIA2_ENST00000507898.1_Silent_p.I406I|GRIA2_ENST00000264426.9_Silent_p.I453I|GRIA2_ENST00000393815.2_Silent_p.I406I|GRIA2_ENST00000449365.1_Silent_p.I406I NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 453 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CTGCAGAAATCGCCAAACATT 0.443000 10 14 0 0 0.008291 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157478 26157478 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:26157478G>A ENST00000325250.1 + 2 563 c.376G>A c.(376-378)Gag>Aag p.E126K NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 126 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 TGAAACGAAAGAGCCAATTAC 0.433000 5 3 0 0 0.000602 0 0 GON4L 54856 broad.mit.edu 37 1 155721823 155721823 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:155721823G>A ENST00000437809.1 - 30 6520 c.6398C>T c.(6397-6399)gCc>gTc p.A2133V GON4L_ENST00000271883.5_Missense_Mutation_p.A2133V|GON4L_ENST00000368331.1_Missense_Mutation_p.A2134V Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 2134 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AGCTTCTGCGGCCTTTGGCTG 0.557000 21 89 0 0 0.010504 0 0 GPR116 221395 broad.mit.edu 37 6 46847732 46847732 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:46847732C>T ENST00000283296.7 - 9 1147 c.859G>A c.(859-861)Gac>Aac p.D287N GPR116_ENST00000362015.4_Missense_Mutation_p.D287N|GPR116_ENST00000265417.7_Missense_Mutation_p.D287N|GPR116_ENST00000456426.2_Intron NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 287 Ig-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CTGACTGTGTCCCCTTCAAAG 0.413000 14 44 0 0 0.004007 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117982500 117982500 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:117982500G>A ENST00000534111.1 + 8 887 c.622G>A c.(622-624)Gag>Aag p.E208K TMPRSS4_ENST00000522824.1_Missense_Mutation_p.E205K|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.E63K|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.E170K|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.E210K NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022.1|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 210 Peptidase S1. V -> G (in dbSNP:rs1941635). proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) GGGTGTGGAGGAGGCCTCTGT 0.632000 13 40 0 0 0.001855 0 0 NARG2 79664 broad.mit.edu 37 15 60768358 60768358 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:60768358G>A ENST00000261520.4 - 3 284 c.50C>T c.(49-51)tCc>tTc p.S17F NARG2_ENST00000561114.1_Missense_Mutation_p.S17F|NARG2_ENST00000439632.1_5'UTR|NARG2_ENST00000558654.1_5'UTR NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 17 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 ATTTTTGGGGGAAATATCCCT 0.323000 6 15 0 0 0.001168 0 0 LRBA 987 broad.mit.edu 37 4 151749501 151749501 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:151749501G>A ENST00000535741.1 - 30 5475 c.5002C>T c.(5002-5004)Ccg>Tcg p.P1668S LRBA_ENST00000507224.1_Missense_Mutation_p.P1668S|LRBA_ENST00000357115.3_Missense_Mutation_p.P1668S|LRBA_ENST00000510413.1_Missense_Mutation_p.P1668S P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1668 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GAAACTGACGGTGTAGCCTTA 0.433000 28 48 0 0 0.008361 0 0 ELOVL4 6785 broad.mit.edu 37 6 80635945 80635945 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:80635945C>T ENST00000369816.4 - 2 554 c.254G>A c.(253-255)gGg>gAg p.G85E NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 85 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) CAAAACCATCCCAAAATTATA 0.348000 12 27 0 0 0.002450 0 0 CPA3 1359 broad.mit.edu 37 3 148596449 148596449 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:148596449G>A ENST00000296046.3 + 5 440 c.388G>A c.(388-390)Gaa>Aaa p.E130K RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 130 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GGCTTGGACTGAAAAGATGAT 0.284000 41 102 0 0 0.003610 0 0 TP63 8626 broad.mit.edu 37 3 189612073 189612073 + Missense_Mutation SNP G G A rs142762485 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:189612073G>A ENST00000264731.3 + 14 1914 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K TP63_ENST00000320472.5_3'UTR|TP63_ENST00000382063.4_Missense_Mutation_p.E524K|TP63_ENST00000354600.5_Missense_Mutation_p.E515K|TP63_ENST00000449992.1_Missense_Mutation_p.E430K|TP63_ENST00000456148.1_Missense_Mutation_p.E511K|TP63_ENST00000440651.2_Missense_Mutation_p.E605K NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 609 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E609K(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GCAGCTCCACGAATTCTCCTC 0.567000 HNSCC(45;0.13) 23 57 0 0 0.003330 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267701 43267701 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:43267701G>A ENST00000372585.5 + 5 819 c.724G>A c.(724-726)Ggg>Agg p.G242R SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G240R|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G240R NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 242 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CTTCTGGACAGGGGGCGTGAT 0.622000 29 94 0 0 0.002836 0 0 MUC16 94025 broad.mit.edu 37 19 9003586 9003586 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9003586C>T ENST00000397910.4 - 49 40257 c.40054G>A c.(40054-40056)Gag>Aag p.E13352K MUC16_ENST00000380951.5_5'UTR NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13354 SEA 9. T -> A (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGACCCTCTCCGTGGTGTTG 0.572000 87 169 0 0 0.003610 0 0 OR10A7 121364 broad.mit.edu 37 12 55615172 55615172 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:55615172C>T ENST00000326258.1 + 1 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 GGCTTATGATCGCTTTGTGGC 0.448000 41 70 0 0 0.006230 0 0 EFCAB5 374786 broad.mit.edu 37 17 28405450 28405450 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:28405450C>T ENST00000394835.3 + 15 3147 c.2955C>T c.(2953-2955)atC>atT p.I985I EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.I861I NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 985 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 TGCACCAAATCCAATGTGCTG 0.478000 9 68 0 0 0.006214 0 0 SMYD3 64754 broad.mit.edu 37 1 246027153 246027153 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:246027153C>T ENST00000490107.1 - 9 888 c.672G>A c.(670-672)tgG>tgA p.W224* SMYD3_ENST00000388985.4_Nonsense_Mutation_p.W283*|SMYD3_ENST00000541742.1_Nonsense_Mutation_p.W224*|SMYD3_ENST00000366517.1_5'UTR NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 283 SET. cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) GAACTTCCTTCCATACTTGCT 0.423000 7 46 0 0 0.003080 0 0 SACS 26278 broad.mit.edu 37 13 23928867 23928867 + Silent SNP G G A rs144468379 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:23928867G>A ENST00000382298.3 - 8 2472 c.1884C>T c.(1882-1884)ccC>ccT p.P628P SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.P628P|SACS_ENST00000476776.1_5'UTR NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 628 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding p.P628P(1)|p.P481P(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GCACCCACGCGGGCGTCACCT 0.562000 8 45 0 0 0.003080 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111530295 111530295 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:111530295G>A ENST00000261486.5 - 17 1748 c.1472C>T c.(1471-1473)tCt>tTt p.S491F CTC-459M5.2_ENST00000506875.1_RNA|CTC-459M5.2_ENST00000515563.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 491 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TTCTCTATTAGAATTTTCTGA 0.373000 5 26 0 0 0.001168 0 0 PLAU 5328 broad.mit.edu 37 10 75676277 75676277 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:75676277C>T ENST00000446342.1 + 10 1681 c.1199C>T c.(1198-1200)cCc>cTc p.P400L PLAU_ENST00000372764.3_Missense_Mutation_p.P417L|C10orf55_ENST00000409178.1_5'UTR|C10orf55_ENST00000412307.2_5'UTR|PLAU_ENST00000372762.4_Missense_Mutation_p.P381L NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 417 Peptidase S1. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) CACTTCTTACCCTGGATCCGC 0.572000 4 13 0 0 0.001168 0 0 RAMP3 10268 broad.mit.edu 37 7 45222933 45222933 + Silent SNP C C T rs148542783 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:45222933C>T ENST00000242249.4 + 3 407 c.369C>T c.(367-369)atC>atT p.I123I RAMP3_ENST00000496212.1_Silent_p.I123I|RAMP3_ENST00000481345.1_Silent_p.I123I NM_005856.2 NP_005847.1 O60896 RAMP3_HUMAN receptor (G protein-coupled) activity modifying protein 3 123 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) TCCCGCTGATCGTTATACCCG 0.617000 57 126 0 0 0.003610 0 0 IL32 9235 broad.mit.edu 37 16 3119352 3119352 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:3119352A>T ENST00000525643.2 + 7 895 c.563A>T c.(562-564)aAa>aTa p.K188I IL32_ENST00000548246.1_Missense_Mutation_p.K148I|IL32_ENST00000531965.1_Missense_Mutation_p.K178I|IL32_ENST00000534507.1_Missense_Mutation_p.K234I|IL32_ENST00000528163.2_Missense_Mutation_p.K188I|IL32_ENST00000325568.5_Missense_Mutation_p.K188I|IL32_ENST00000530890.1_Missense_Mutation_p.K168I|IL32_ENST00000548476.1_Missense_Mutation_p.K234I|IL32_ENST00000548652.1_Missense_Mutation_p.K179I|IL32_ENST00000549213.1_Missense_Mutation_p.K131I|IL32_ENST00000529550.1_Missense_Mutation_p.K188I|IL32_ENST00000526464.2_Missense_Mutation_p.K188I|IL32_ENST00000551513.1_Missense_Mutation_p.K225I|IL32_ENST00000552664.1_Missense_Mutation_p.K188I|IL32_ENST00000529699.1_Missense_Mutation_p.K168I|IL32_ENST00000533097.2_Missense_Mutation_p.K188I|IL32_ENST00000552356.1_Missense_Mutation_p.K168I|IL32_ENST00000530538.2_Missense_Mutation_p.K188I|IL32_ENST00000552936.1_Missense_Mutation_p.K212I|IL32_ENST00000396890.2_Missense_Mutation_p.K234I|IL32_ENST00000551122.1_Missense_Mutation_p.K131I|IL32_ENST00000440815.3_Missense_Mutation_p.K188I|IL32_ENST00000008180.9_Missense_Mutation_p.K168I|IL32_ENST00000382213.3_Missense_Mutation_p.K179I|IL32_ENST00000444393.3_Missense_Mutation_p.K188I|IL32_ENST00000396887.3_Missense_Mutation_p.K131I P24001 IL32_HUMAN interleukin 32 234 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CAATCCTCAAAATGAAGATAC 0.612000 44 94 0 0 0.003214 0 0 PCCA 5095 broad.mit.edu 37 13 100953732 100953732 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:100953732G>A ENST00000376285.1 + 13 1122 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K PCCA_ENST00000376286.4_Missense_Mutation_p.E336K|PCCA_ENST00000376279.3_Missense_Mutation_p.E362K NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 362 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TCCTGTCACAGAATGCATTAC 0.458000 47 56 0 0 0.003610 0 0 XKR6 286046 broad.mit.edu 37 8 10755744 10755744 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:10755744C>T ENST00000416569.2 - 3 1670 c.1644G>A c.(1642-1644)acG>acA p.T548T XKR6_ENST00000304437.2_Silent_p.T269T NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 548 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CCTGTTGTTCCGTTACGGCTC 0.627000 13 52 0 0 0.001855 0 0 RFX7 64864 broad.mit.edu 37 15 56387725 56387725 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:56387725G>A ENST00000423270.1 - 9 2200 c.2201C>T c.(2200-2202)tCc>tTc p.S734F RFX7_ENST00000422057.1_Missense_Mutation_p.S637F|RFX7_ENST00000559447.2_Missense_Mutation_p.S637F|RFX7_ENST00000317318.6_Missense_Mutation_p.S734F NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 637 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 AAGGGCAGAGGAATTCAAGGG 0.413000 9 29 0 0 0.006214 0 0 BAIAP2L2 80115 broad.mit.edu 37 22 38503919 38503919 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:38503919C>T ENST00000381669.3 - 4 360 c.214_splice c.e4-1 p.G72_splice BAIAP2L2_ENST00000332536.5_Splice_Site_p.G72_splice NM_025045.4 NP_079321.3 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 72 IMD. filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) CCAAGATCTCCCCTGGAGGCA 0.637000 18 53 0 0 0.004990 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013483 73013483 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:73013483T>C ENST00000308744.6 + 4 1621 c.1523T>C c.(1522-1524)tTa>tCa p.L508S NPFFR2_ENST00000395999.1_Missense_Mutation_p.L409S|NPFFR2_ENST00000358749.3_Missense_Mutation_p.L406S|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 508 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) CAACAGGAATTAGTGATGGAA 0.343000 17 61 0 0 0.008871 0 0 CSNK2A3 283106 broad.mit.edu 37 11 11374442 11374442 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:11374442C>T ENST00000528848.2 - 1 462 c.225G>A c.(223-225)aaG>aaA p.K75K GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA NM_001256686.1 NP_001243615.1 casein kinase 2, alpha 3 polypeptide TAATTTTCTTCTTTTTTACTG 0.363000 46 54 0 0 0.003610 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74203779 74203779 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:74203779G>A ENST00000286523.5 - 3 2453 c.1671C>T c.(1669-1671)aaC>aaT p.N557N ELMSAN1_ENST00000394071.2_Silent_p.N557N NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GCTCAGCAGGGTTCTGTTCAG 0.602000 24 46 0 0 0.003330 0 0 HPS1 3257 broad.mit.edu 37 10 100183371 100183371 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:100183371G>A ENST00000325103.6 - 16 1820 c.1587C>T c.(1585-1587)atC>atT p.I529I HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.I529I NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 529 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) ACACCATGGTGATGTTCCTCC 0.617000 Hermansky-Pudlak syndrome 91 90 0 0 0.003610 0 0 KMT2A 4297 broad.mit.edu 37 11 118359392 118359392 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:118359392C>T ENST00000534358.1 + 11 4419 c.4396C>T c.(4396-4398)Cct>Tct p.P1466S KMT2A_ENST00000389506.5_Missense_Mutation_p.P1466S|KMT2A_ENST00000354520.4_Missense_Mutation_p.P1428S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GAACGAGCGCCCTCTGGAGGA 0.433000 30 31 0 0 0.002096 0 0 UNK 85451 broad.mit.edu 37 17 73780818 73780818 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:73780818G>A ENST00000293218.3 + 2 85 c.85G>A c.(85-87)Gaa>Aaa p.E29K H3F3B_ENST00000586607.1_Intron Q9C0B0 UNK_HUMAN unkempt family zinc finger 0 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCGGACATAGAACCACAACT 0.637000 7 17 0 0 0.006214 0 0 EMB 133418 broad.mit.edu 37 5 49699028 49699028 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:49699028C>T ENST00000303221.5 - 6 1076 c.861G>A c.(859-861)aaG>aaA p.K287K EMB_ENST00000508934.1_Silent_p.K233K|EMB_ENST00000514111.1_Silent_p.K237K NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 287 integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) GCTTCTTTTTCTTTTGTGTGT 0.328000 9 27 0 0 0.008291 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121989422 121989422 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:121989422G>A ENST00000263707.5 - 13 1418 c.1321C>T c.(1321-1323)Cat>Tat p.H441Y NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 441 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) ACCACCACATGGATGCCCGTG 0.637000 19 32 0 0 0.010504 0 0 GPR179 440435 broad.mit.edu 37 17 36492922 36492922 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:36492922G>A ENST00000342292.4 - 4 1186 c.1166C>T c.(1165-1167)gCc>gTc p.A389V NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 389 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CATGCAGCAGGCCTGGCAGGC 0.657000 5 11 0 0 0.001168 0 0 SLC27A6 28965 broad.mit.edu 37 5 128359404 128359404 + Splice_Site SNP G G A rs141842204 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:128359404G>A ENST00000262462.4 + 6 2265 c.e6+1 SLC27A6_ENST00000395266.1_Splice_Site|SLC27A6_ENST00000506176.1_Splice_Site Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GTGAAAAAAGGTAAGACTTCT 0.413000 23 33 0 0 0.004656 0 0 MRAP2 112609 broad.mit.edu 37 6 84765066 84765066 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:84765066G>A ENST00000257776.4 + 2 164 c.29G>A c.(28-30)aGa>aAa p.R10K NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 10 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 ATTTCTAACAGAACCTCCCAG 0.433000 28 56 0 0 0.005443 0 0 C1orf27 54953 broad.mit.edu 37 1 186375259 186375259 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:186375259C>T ENST00000367470.3 + 11 1212 c.976C>T c.(976-978)Ccc>Tcc p.P326S C1orf27_ENST00000432021.3_Missense_Mutation_p.P326S|C1orf27_ENST00000287859.6_Missense_Mutation_p.P349S|C1orf27_ENST00000419367.3_Missense_Mutation_p.P317S NM_001164245.1 NP_001157717.1 Q5SWX8 ODR4_HUMAN chromosome 1 open reading frame 27 349 integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 9 AGTCTTTGTTCCCCTTCCTGG 0.373000 28 45 0 0 0.007291 0 0 CD200R1 131450 broad.mit.edu 37 3 112648221 112648221 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:112648221C>T ENST00000471858.1 - 3 499 c.267G>A c.(265-267)aaG>aaA p.K89K CD200R1_ENST00000295863.4_Silent_p.K67K|CD200R1_ENST00000490004.1_Silent_p.K89K|CD200R1_ENST00000440122.2_Silent_p.K112K|CD200R1_ENST00000308611.3_Silent_p.K112K NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 89 Ig-like V-type. R -> K (in allele 2; dbSNP:rs2171509). interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 TTGTTTCTTTCTTGTAGGCTT 0.438000 33 54 0 0 0.004289 0 0 ZNF474 133923 broad.mit.edu 37 5 121488390 121488390 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:121488390C>T ENST00000296600.4 + 2 1088 c.705C>T c.(703-705)tcC>tcT p.S235S CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 235 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) GCACCCTGTCCCTTCCTATTC 0.522000 48 80 0 0 0.003610 0 0 BAG4 9530 broad.mit.edu 37 8 38067760 38067760 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:38067760A>G ENST00000287322.4 + 5 1394 c.1123A>G c.(1123-1125)Agt>Ggt p.S375G BAG4_ENST00000432471.2_Missense_Mutation_p.S339G NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 375 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) TTCAGATGAAAGTACTCCTCC 0.408000 15 45 0 0 0.004007 0 0 OR51B4 79339 broad.mit.edu 37 11 5322940 5322940 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:5322940G>A ENST00000380224.1 - 1 286 c.237C>T c.(235-237)gtC>gtT p.V79V HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGACACCCAGGACTGTGGGCA 0.507000 28 49 0 0 0.006320 0 0 C6orf118 168090 broad.mit.edu 37 6 165715342 165715342 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:165715342C>T ENST00000543069.1 - 2 738 c.157G>A c.(157-159)Gaa>Aaa p.E53K C6orf118_ENST00000230301.8_Missense_Mutation_p.E157K Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 157 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TTCTTTTCTTCCTTCCCCTCT 0.612000 38 73 0 0 0.005524 0 0 NYAP1 222950 broad.mit.edu 37 7 100087196 100087196 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:100087196G>A ENST00000423930.1 + 4 2011 c.1852G>A c.(1852-1854)Gaa>Aaa p.E618K NYAP1_ENST00000454988.1_Missense_Mutation_p.E561K|NYAP1_ENST00000300179.2_Missense_Mutation_p.E618K Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 618 Poly-Glu. ACCAGAGGAGGAAGAAGAGGA 0.607000 72 28 0 0 0.003610 0 0 FBN3 84467 broad.mit.edu 37 19 8175973 8175973 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:8175973A>G ENST00000600128.1 - 33 4593 c.4179T>C c.(4177-4179)ttT>ttC p.F1393F FBN3_ENST00000270509.2_Silent_p.F1393F|FBN3_ENST00000601739.1_Silent_p.F1393F Q75N90 FBN3_HUMAN fibrillin 3 1393 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGGTGGGGTCAAAGCCCATCT 0.652000 9 28 0 0 0.004482 0 0 OR4K2 390431 broad.mit.edu 37 14 20344630 20344630 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:20344630C>T ENST00000298642.2 + 1 240 c.204C>T c.(202-204)atC>atT p.I68I NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCTTTCAATCATTGATATGT 0.423000 42 113 0 0 0.007835 0 0 GPD2 2820 broad.mit.edu 37 2 157425915 157425915 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:157425915C>T ENST00000310454.6 + 11 1713 c.1341C>T c.(1339-1341)acC>acT p.T447T GPD2_ENST00000409674.1_Silent_p.T447T|GPD2_ENST00000438166.2_Silent_p.T447T|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Silent_p.T220T NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 447 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 CAGAAGATACCATAAATGCTG 0.388000 13 24 0 0 0.002450 0 0 EHD3 30845 broad.mit.edu 37 2 31489532 31489532 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:31489532C>T ENST00000322054.5 + 6 1855 c.1570C>T c.(1570-1572)Cac>Tac p.H524Y EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 524 EH. blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) GCTGCCTGCCCACCTCCTGCC 0.602000 21 47 0 0 0.002299 0 0 CRB1 23418 broad.mit.edu 37 1 197390617 197390617 + Translation_Start_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:197390617G>A ENST00000367397.1 + 0 660 CRB1_ENST00000543483.1_Silent_p.K252K|CRB1_ENST00000538660.1_Silent_p.K553K|CRB1_ENST00000367399.2_Silent_p.K441K|CRB1_ENST00000367400.3_Silent_p.K553K|CRB1_ENST00000544212.1_Silent_p.K34K|CRB1_ENST00000535699.1_Silent_p.K484K P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATCAGTCAAAGGTGCTTCTGT 0.458000 34 61 0 0 0.007835 0 0 OR4K5 79317 broad.mit.edu 37 14 20389214 20389214 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:20389214C>T ENST00000315915.4 + 1 474 c.449C>T c.(448-450)gCt>gTt p.A150V NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCTCCTGGGCTGTGAGCTTG 0.443000 62 125 0 0 0.003610 0 0 AKAP3 10566 broad.mit.edu 37 12 4725009 4725009 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:4725009C>T ENST00000545990.2 - 6 2982 c.2458G>A c.(2458-2460)Gtt>Att p.V820I AKAP3_ENST00000228850.1_Missense_Mutation_p.V820I NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 820 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 GACTGCAGAACCTCGCCCACA 0.567000 33 77 0 0 0.004289 0 0 SPTBN5 51332 broad.mit.edu 37 15 42158681 42158681 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:42158681C>T ENST00000320955.6 - 37 6718 c.6491G>A c.(6490-6492)tGg>tAg p.W2164* NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2164 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CGCCTGGATCCAGTCCTCAGC 0.632000 6 26 0 0 0.001984 0 0 JARID2 3720 broad.mit.edu 37 6 15511546 15511546 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:15511546G>A ENST00000341776.2 + 13 3110 c.2866G>A c.(2866-2868)Gag>Aag p.E956K JARID2_ENST00000397311.3_Missense_Mutation_p.E784K NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 956 JmjC. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TCCTGCTGAGGAGGAGAACAA 0.572000 35 77 0 0 0.004878 0 0 SHPRH 257218 broad.mit.edu 37 6 146266711 146266711 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:146266711G>A ENST00000367503.3 - 8 1782 c.1384C>T c.(1384-1386)Ctt>Ttt p.L462F SHPRH_ENST00000275233.7_Missense_Mutation_p.L462F|SHPRH_ENST00000438092.2_Missense_Mutation_p.L462F|SHPRH_ENST00000367505.2_Missense_Mutation_p.L462F NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 462 H15. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TAGATGGAAAGGATGGACACT 0.338000 14 32 0 0 0.001855 0 0 TRPC7 57113 broad.mit.edu 37 5 135587547 135587547 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:135587547C>T ENST00000513104.1 - 6 1651 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K TRPC7_ENST00000426057.2_Missense_Mutation_p.E341K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E396K NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 457 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCCCAGATTTCCTTGCATTCG 0.542000 21 40 0 0 0.003330 0 0 SPAM1 6677 broad.mit.edu 37 7 123594569 123594569 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:123594569C>T ENST00000340011.5 + 3 1302 c.945C>T c.(943-945)ttC>ttT p.F315F SPAM1_ENST00000223028.7_Silent_p.F315F|SPAM1_ENST00000460182.1_Silent_p.F315F|SPAM1_ENST00000402183.2_Silent_p.F315F|SPAM1_ENST00000439500.1_Silent_p.F315F NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 315 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TTTTGAAATTCCTTTCTCAAG 0.343000 17 7 0 0 0.006122 0 0 PTCRA 171558 broad.mit.edu 37 6 42890984 42890984 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:42890984C>T ENST00000304672.1 + 2 359 c.278C>T c.(277-279)tCc>tTc p.S93F PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.S68F NM_001243168.1|NM_138296.2 NP_001230097.1|NP_612153.2 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha 93 integral to membrane receptor activity large_intestine(2)|lung(4)|ovary(2) 8 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) GCCCATCTCTCCCTGCCTTCT 0.612000 38 73 0 0 0.004289 0 0 NEURL1 9148 broad.mit.edu 37 10 105331498 105331498 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:105331498T>C ENST00000369780.4 + 3 977 c.568T>C c.(568-570)Ttc>Ctc p.F190L NEURL_ENST00000369777.2_Missense_Mutation_p.F173L|NEURL_ENST00000465048.1_3'UTR NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 190 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGTTATGCTGTTCTTCAGCGG 0.642000 26 34 0 0 0.008361 0 0 IFIH1 64135 broad.mit.edu 37 2 163134738 163134738 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:163134738C>T ENST00000263642.2 - 9 2137 c.1742G>A c.(1741-1743)tGg>tAg p.W581* NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 581 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 TTGAATGGCCCATTGTTCATA 0.328000 12 38 0 0 0.001368 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101574613 101574613 + Missense_Mutation SNP A A G rs115993928 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:101574613A>G ENST00000326172.5 + 9 1806 c.1691A>G c.(1690-1692)aAt>aGt p.N564S NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N464S|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N442S NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 564 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 ATAGCCCACAATGCTGTGGTC 0.443000 32 42 0 0 0.002445 0 0 KCTD14 65987 broad.mit.edu 37 11 77728170 77728170 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:77728170G>A ENST00000353172.5 - 2 281 c.237C>T c.(235-237)atC>atT p.I79I KCTD14_ENST00000533144.1_Silent_p.I49I|NDUFC2-KCTD14_ENST00000530054.1_3'UTR|NDUFC2-KCTD14_ENST00000528251.1_3'UTR NM_001203260.1|NM_001203262.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 79 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) TGGGGCGGTCGATGAAGAAGC 0.597000 10 37 0 0 0.008291 0 0 CEACAM18 729767 broad.mit.edu 37 19 51981793 51981793 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:51981793G>A ENST00000451626.1 + 2 80 c.80G>A c.(79-81)cGa>cAa p.R27Q A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 27 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCTGGGAGACGAGACCGGCAG 0.652000 7 11 0 0 0.004482 0 0 HCN1 348980 broad.mit.edu 37 5 45262081 45262081 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:45262081G>A ENST00000303230.4 - 8 2672 c.2615C>T c.(2614-2616)tCc>tTc p.S872F NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 872 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TAAGACTGAGGAAGATTCTCT 0.512000 42 112 0 0 0.002852 0 0 SUGP1 57794 broad.mit.edu 37 19 19416738 19416738 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:19416738G>A ENST00000247001.5 - 4 805 c.458C>T c.(457-459)cCc>cTc p.P153L SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Missense_Mutation_p.P153L NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 153 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 GTGCGCCACGGGCAGCTGCTT 0.652000 16 42 0 0 0.004990 0 0 NLRP11 204801 broad.mit.edu 37 19 56300601 56300601 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:56300601T>A ENST00000443188.1 - 10 3388 c.2678A>T c.(2677-2679)aAt>aTt p.N893I NLRP11_ENST00000589824.2_Missense_Mutation_p.N839I|NLRP11_ENST00000592953.1_Missense_Mutation_p.N794I|NLRP11_ENST00000589093.1_Missense_Mutation_p.N893I|NLRP11_ENST00000360133.3_Missense_Mutation_p.N839I NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 893 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTACCCAATATTCACCAACAT 0.468000 28 51 0 0 0.006320 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324223 79324223 + Silent SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:79324223T>C ENST00000428286.1 - 8 3090 c.1890A>G c.(1888-1890)ccA>ccG p.P630P PRUNE2_ENST00000376718.3_Silent_p.P989P Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 989 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTTTAGCAAATGGCTTGTGTT 0.448000 23 24 0 0 0.001882 0 0 DNAH9 1770 broad.mit.edu 37 17 11671833 11671833 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:11671833C>T ENST00000262442.3 + 37 7302 c.7234C>T c.(7234-7236)Cct>Tct p.P2412S DNAH9_ENST00000454412.2_Missense_Mutation_p.P2412S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2412 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGTCAAGTTTCCTTCCCAAGG 0.498000 21 42 0 0 0.008871 0 0 SEC13 6396 broad.mit.edu 37 3 10357052 10357052 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:10357052G>A ENST00000397117.1 - 3 666 c.75C>T c.(73-75)atC>atT p.I25I SEC13_ENST00000337354.4_Silent_p.I42I|SEC13_ENST00000397109.3_Silent_p.I25I|SEC13_ENST00000350697.3_Silent_p.I39I|SEC13_ENST00000383801.2_Silent_p.I85I P55735 SEC13_HUMAN SEC13 homolog (S. cerevisiae) 39 COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 GCACATCAAAGATTTTGACGG 0.597000 11 47 0 0 0.001855 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661355 176661355 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:176661355A>T ENST00000367662.3 + 6 3689 c.2525A>T c.(2524-2526)aAg>aTg p.K842M NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 842 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GAAAGCAGAAAGCCCACCCCC 0.498000 49 80 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179433173 179433173 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179433173C>T ENST00000589042.1 - 326 77910 c.77686G>A c.(77686-77688)Gga>Aga p.G25896R TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16956R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23328R|TTN_ENST00000460472.2_Missense_Mutation_p.G16831R|TTN_ENST00000342175.6_Missense_Mutation_p.G17023R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G24255R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24255 Fibronectin type-III 88. 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) TTAACAGGTCCTTTTGGAGGA 0.408000 10 33 0 0 0.006214 0 0 ABCC9 10060 broad.mit.edu 37 12 21954019 21954019 + Missense_Mutation SNP C C T rs149722127 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:21954019C>T ENST00000261200.4 - 38 4608 c.4609G>A c.(4609-4611)Gaa>Aaa p.E1537K NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1537 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.E1537K(1) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACTCCATTTTCCTGAGCCAAG 0.383000 14 36 0 0 0.003163 0 0 PADI2 11240 broad.mit.edu 37 1 17431502 17431502 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:17431502C>T ENST00000375486.4 - 2 210 c.147G>A c.(145-147)tgG>tgA p.W49* PADI2_ENST00000375481.1_Nonsense_Mutation_p.W49*|PADI2_ENST00000444885.2_Nonsense_Mutation_p.W49* NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 49 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CCACCTCCACCCACACGTGTT 0.662000 14 26 0 0 0.003163 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136569778 136569778 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:136569778C>T ENST00000355849.5 + 5 969 c.559C>T c.(559-561)Cga>Tga p.R187* KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 187 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding p.R187*(1) NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) TCCAGTGGTTCGAGGGAAACC 0.428000 32 61 0 0 0.003271 0 0 PAK7 57144 broad.mit.edu 37 20 9546683 9546683 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:9546683C>T ENST00000378429.3 - 6 1885 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K PAK7_ENST00000378423.1_Missense_Mutation_p.E447K|PAK7_ENST00000353224.5_Missense_Mutation_p.E447K NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 447 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GCCAAGTATTCCCTGGGGTCT 0.582000 29 70 0 0 0.007291 0 0 LY75 4065 broad.mit.edu 37 2 160672034 160672034 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:160672034G>A ENST00000263636.4 - 31 4458 c.4431C>T c.(4429-4431)atC>atT p.I1477I LY75-CD302_ENST00000505052.1_Silent_p.I1477I|LY75_ENST00000553424.1_Silent_p.I1477I|LY75-CD302_ENST00000504764.1_Silent_p.I1477I|LY75_ENST00000554112.1_Silent_p.I1477I NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) CTTTCCATGGGATATAGTCAA 0.373000 26 30 0 0 0.009535 0 0 GRK7 131890 broad.mit.edu 37 3 141497718 141497718 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:141497718G>A ENST00000264952.2 + 1 729 c.592G>A c.(592-594)Ggg>Agg p.G198R NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 198 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CAGAGTGCTGGGGAAAGGTGG 0.473000 29 72 0 0 0.003271 0 0 CEBPE 1053 broad.mit.edu 37 14 23588123 23588123 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:23588123C>A ENST00000206513.5 - 1 702 c.178G>T c.(178-180)Gtg>Ttg p.V60L NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 60 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) GCTGGCTTCACGGCAAAGAGA 0.642000 23 56 6.44725e-10 7.43932e-10 0.002299 1 0 C17orf97 400566 broad.mit.edu 37 17 263022 263022 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:263022C>T ENST00000360127.6 + 2 404 c.388C>T c.(388-390)Ccg>Tcg p.P130S AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 130 breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 AGAGCGTGGCCCGAAACCAGA 0.517000 21 40 0 0 0.001882 0 0 TMEM163 81615 broad.mit.edu 37 2 135470837 135470837 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:135470837C>T ENST00000281924.6 - 2 319 c.255G>A c.(253-255)agG>agA p.R85R NM_030923.4 NP_112185.1 Q8TC26 TM163_HUMAN transmembrane protein 163 85 integral to membrane endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.154) ATGCCTTCTTCCTGTAGTTCT 0.502000 53 88 0 0 0.003610 0 0 OR13G1 441933 broad.mit.edu 37 1 247836033 247836033 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:247836033G>A ENST00000359688.2 - 1 332 c.311C>T c.(310-312)tCt>tTt p.S104F RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGCTCCCAGAGACCATGTGAA 0.458000 10 29 0 0 0.001368 0 0 DDX41 51428 broad.mit.edu 37 5 176938925 176938925 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:176938925T>C ENST00000507955.1 - 17 2259 c.1736A>G c.(1735-1737)gAg>gGg p.E579G NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 579 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) ACAGCCGCGCTCTCCTGGGGG 0.637000 4 46 0 0 0.009096 0 0 USP30 84749 broad.mit.edu 37 12 109494518 109494518 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:109494518G>A ENST00000257548.5 + 2 208 c.115G>A c.(115-117)Ggt>Agt p.G39S USP30_ENST00000392784.2_Missense_Mutation_p.G8S NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 39 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 GGGAGTTATAGGTGGAATTGC 0.373000 69 94 0 0 0.003610 0 0 KAT2B 8850 broad.mit.edu 37 3 20168972 20168972 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:20168972C>T ENST00000263754.4 + 11 2135 c.1680C>T c.(1678-1680)ttC>ttT p.F560F NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 560 N-acetyltransferase. cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 GTATCTGTTTCCGTATGTTCC 0.383000 27 60 0 0 0.004656 0 0 FAM171B 165215 broad.mit.edu 37 2 187626618 187626618 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:187626618G>A ENST00000304698.5 + 8 1752 c.1549G>A c.(1549-1551)Ggt>Agt p.G517S NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 517 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GTATCTCACAGGTAATGAGGA 0.428000 10 23 0 0 0.006214 0 0 SCN10A 6336 broad.mit.edu 37 3 38763812 38763812 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38763812G>A ENST00000449082.2 - 19 3443 c.3444C>T c.(3442-3444)atC>atT p.I1148I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1148 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) TGTGCTCCACGATACGGTAGC 0.557000 27 62 0 0 0.003954 0 0 IPCEF1 26034 broad.mit.edu 37 6 154567864 154567864 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:154567864G>A ENST00000265198.4 - 5 259 c.104C>T c.(103-105)tCg>tTg p.S35L OPRM1_ENST00000337049.4_Missense_Mutation_p.R401Q|IPCEF1_ENST00000367220.4_Missense_Mutation_p.S36L|IPCEF1_ENST00000422970.2_Missense_Mutation_p.S36L|IPCEF1_ENST00000519344.1_Missense_Mutation_p.S7L NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 ATCTTTACACGATATCCTCCT 0.403000 26 32 0 0 0.003330 0 0 FMO3 2328 broad.mit.edu 37 1 171079953 171079953 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:171079953C>T ENST00000367755.4 + 6 753 c.642C>T c.(640-642)tcC>tcT p.S214S FMO3_ENST00000542847.1_Silent_p.S194S|FMO3_ENST00000538429.1_Silent_p.S151S|FMO3_ENST00000392085.2_Silent_p.S214S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 214 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGATCAGTTCCAGAAGTGGCT 0.463000 19 111 0 0 0.002780 0 0 DUSP14 11072 broad.mit.edu 37 17 35872918 35872918 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:35872918C>T ENST00000487847.1 + 2 1522 c.544C>T c.(544-546)Ccc>Tcc p.P182S DUSP14_ENST00000394389.4_Missense_Mutation_p.P182S|DUSP14_ENST00000394386.1_Missense_Mutation_p.P182S O95147 DUS14_HUMAN dual specificity phosphatase 14 182 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 9 Breast(25;0.00637)|Ovarian(249;0.15) TGGCATAGTTCCCGACGTCTA 0.562000 25 47 0 0 0.003330 0 0 NT5C2 22978 broad.mit.edu 37 10 104859732 104859732 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:104859732C>T ENST00000343289.5 - 8 671 c.584G>A c.(583-585)cGg>cAg p.R195Q NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Missense_Mutation_p.R195Q|NT5C2_ENST00000423468.2_Missense_Mutation_p.R166Q NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 195 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) GAACATACTCCGGTAGGACAT 0.398000 35 45 0 0 0.005524 0 0 PACSIN1 29993 broad.mit.edu 37 6 34496492 34496492 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:34496492C>T ENST00000538621.1 + 4 539 c.294C>T c.(292-294)caC>caT p.H98H PACSIN1_ENST00000374043.2_Silent_p.H56H|PACSIN1_ENST00000244458.2_Silent_p.H98H|PACSIN1_ENST00000486120.1_3'UTR NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 98 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 GCGAGCTGCACCAGGAGGTGA 0.552000 58 114 0 0 0.003610 0 0 MYH3 4621 broad.mit.edu 37 17 10532961 10532961 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10532961G>A ENST00000583535.1 - 40 5836 c.5749C>T c.(5749-5751)Caa>Taa p.Q1917* MYH3_ENST00000226209.7_Nonsense_Mutation_p.Q1917* NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1917 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TTGTTGACTTGAGATTCTGCG 0.542000 38 29 0 0 0.008740 0 0 CACNA1I 8911 broad.mit.edu 37 22 40045784 40045784 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:40045784G>A ENST00000336649.4 + 12 1864 c.1864G>A c.(1864-1866)Gat>Aat p.D622N CACNA1I_ENST00000407673.1_Missense_Mutation_p.D581N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D581N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D616N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D616N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D581N Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 616 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ggagcaggcggaTGGGGCGGT 0.687000 3 7 0 0 0.009096 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202749 140202749 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140202749G>A ENST00000529859.1 + 1 1389 c.1389G>A c.(1387-1389)gtG>gtA p.V463V PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.V463V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.V463V|PCDHA4_ENST00000512229.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTGTTCGTGAAGGAGAACA 0.662000 26 71 0 0 0.003954 0 0 RHOV 171177 broad.mit.edu 37 15 41165486 41165486 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:41165486C>T ENST00000220507.4 - 3 630 c.481G>A c.(481-483)Ggc>Agc p.G161S NM_133639.3 NP_598378.3 Q96L33 RHOV_HUMAN ras homolog family member V 161 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding central_nervous_system(1)|large_intestine(1) 2 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) CCCTCCCGGCCCCCCTGGTCC 0.652000 21 39 0 0 0.002299 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 103903604 103903604 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:103903604C>T ENST00000372582.1 + 2 766 c.10C>T c.(10-12)Cca>Tca p.P4S IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P4S NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 4 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GATGAAGCCACCATTTCTTTT 0.393000 30 21 0 0 0.002445 0 0 MOCS2 4338 broad.mit.edu 37 5 52394491 52394491 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:52394491A>T ENST00000396954.3 - 7 1185 c.508T>A c.(508-510)Tac>Aac p.Y170N MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_3'UTR NM_004531.3 NP_004522.1 O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 0 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) GACTCTTCGTATATTTCCTAA 0.279000 21 48 0 0 0.010504 0 0 CD177 57126 broad.mit.edu 37 19 43866377 43866377 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:43866377G>A ENST00000378009.4 + 0 1380 CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) TCAGCATGAGGGAGGTGGGGC 0.612000 18 41 0 0 0.010504 0 0 ADARB1 104 broad.mit.edu 37 21 46596307 46596307 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:46596307C>T ENST00000539173.1 + 4 1126 c.691C>T c.(691-693)Ccg>Tcg p.P231S ADARB1_ENST00000389863.4_Missense_Mutation_p.P231S|ADARB1_ENST00000348831.4_Missense_Mutation_p.P231S|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000360697.3_Missense_Mutation_p.P231S NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 231 DRBM 2. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) ATTCCCACCCCCGAGTGGGAA 0.597000 23 45 0 0 0.003330 0 0 UBR1 197131 broad.mit.edu 37 15 43269040 43269040 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:43269040G>A ENST00000290650.4 - 39 4322 c.4244C>T c.(4243-4245)tCc>tTc p.S1415F UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1415 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CCAATACAAGGATGGGAATGC 0.383000 6 13 0 0 0.001984 0 0 TNR 7143 broad.mit.edu 37 1 175355175 175355175 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:175355175G>A ENST00000367674.1 - 8 2478 c.1770C>T c.(1768-1770)ttC>ttT p.F590F TNR_ENST00000263525.2_Silent_p.F590F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 590 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TACCTGTTGTGAACTGAGTGG 0.592000 35 48 0 0 0.006999 0 0 DMWD 1762 broad.mit.edu 37 19 46289715 46289715 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:46289715C>T ENST00000270223.6 - 3 1084 c.1039G>A c.(1039-1041)Gat>Aat p.D347N DMWD_ENST00000377735.3_Missense_Mutation_p.D347N NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 347 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) ACCAGGTCATCTTCGCCACCC 0.642000 22 66 0 0 0.003954 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19698860 19698860 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:19698860C>T ENST00000284885.3 - 16 1843 c.1810G>A c.(1810-1812)Gat>Aat p.D604N NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 604 CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 GAGAACACATCCTTTACTGGG 0.443000 22 57 0 0 0.003330 0 0 LILRB1 10859 broad.mit.edu 37 19 55143641 55143641 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:55143641C>T ENST00000396331.1 + 6 971 c.614C>T c.(613-615)cCc>cTc p.P205L LILRB1_ENST00000324602.7_Missense_Mutation_p.P205L|LILRB1_ENST00000448689.1_Missense_Mutation_p.P205L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P205L|LILRB1_ENST00000396332.4_Missense_Mutation_p.P205L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P205L|LILRB1_ENST00000396315.1_Missense_Mutation_p.P205L NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 205 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.P205L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TCGAACTCTCCCTATGAGTGG 0.607000 HNSCC(37;0.09) 33 117 0 0 0.003755 0 0 SUPT16H 11198 broad.mit.edu 37 14 21838552 21838552 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:21838552G>A ENST00000216297.2 - 4 764 c.426C>T c.(424-426)ttC>ttT p.F142F NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 142 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) ACTCTCCAGGGAATTTGTCTT 0.378000 48 136 0 0 0.003610 0 0 CLVS1 157807 broad.mit.edu 37 8 62412056 62412056 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:62412056G>A ENST00000519846.1 + 7 1492 c.1020G>A c.(1018-1020)gaG>gaA p.E340E CLVS1_ENST00000325897.4_Silent_p.E340E|CLVS1_ENST00000518858.1_3'UTR|CLVS1_ENST00000518592.1_Silent_p.E61E Q8IUQ0 CLVS1_HUMAN clavesin 1 340 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AACATGAGGAGAAGGGAGAGA 0.507000 14 45 0 0 0.004007 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361463 70361463 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:70361463T>C ENST00000305107.6 - 1 163 c.117A>G c.(115-117)atA>atG p.I39M UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.I39M NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 39 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 GGATTGTCTTTATATTCATCC 0.468000 63 85 0 0 0.003610 0 0 FAM193B 54540 broad.mit.edu 37 5 176958471 176958471 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:176958471G>A ENST00000443375.2 - 7 2546 c.988C>T c.(988-990)Cgc>Tgc p.R330C FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000329540.5_5'UTR Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 426 kidney(1)|large_intestine(3) 4 AGCCTCGAGCGGAGCTTCTCC 0.692000 10 8 0 0 0.001855 0 0 FSTL5 56884 broad.mit.edu 37 4 162402207 162402207 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:162402207G>A ENST00000306100.5 - 13 2009 c.1573C>T c.(1573-1575)Ctt>Ttt p.L525F FSTL5_ENST00000427802.2_Missense_Mutation_p.L515F|FSTL5_ENST00000379164.4_Missense_Mutation_p.L524F|FSTL5_ENST00000536695.1_Missense_Mutation_p.L524F NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 525 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCAACAATAAGGACTCTGTCC 0.343000 45 66 0 0 0.002852 0 0 MYH7 4625 broad.mit.edu 37 14 23886806 23886806 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:23886806C>T ENST00000355349.3 - 31 4421 c.4259G>A c.(4258-4260)cGg>cAg p.R1420Q NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1420 R -> W (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATTCTGTAGCCGGTGCTTGGT 0.602000 35 78 0 0 0.004878 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83371240 83371240 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:83371240C>T ENST00000262752.2 - 12 1012 c.1005G>A c.(1003-1005)tgG>tgA p.W335* RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.W335* NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 335 AGC-kinase C-terminal. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 AACTTACATCCCAGTCAATAT 0.254000 5 11 0 0 0.001168 0 0 MCTP1 79772 broad.mit.edu 37 5 94353134 94353134 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:94353134C>T ENST00000515393.1 - 2 774 c.775G>A c.(775-777)Gga>Aga p.G259R MCTP1_ENST00000429576.2_Missense_Mutation_p.G38R|MCTP1_ENST00000505208.1_Missense_Mutation_p.G38R|MCTP1_ENST00000312216.8_Missense_Mutation_p.G38R NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 259 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.G259*(1) breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TGGTACATTCCGGGATCAGCC 0.378000 23 68 0 0 0.003330 0 0 GPR15 2838 broad.mit.edu 37 3 98251496 98251496 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:98251496C>T ENST00000284311.3 + 1 754 c.619C>T c.(619-621)Cct>Tct p.P207S NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 207 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CTTTTTTGTCCCTTTGTTGAG 0.428000 24 82 0 0 0.003330 0 0 DSG1 1828 broad.mit.edu 37 18 28914018 28914018 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:28914018T>A ENST00000257192.4 + 8 1070 c.858T>A c.(856-858)aaT>aaA p.N286K NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 286 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TAAATTCAAATTTGCTCGAGA 0.343000 33 75 0 0 0.003755 0 0 MUC17 140453 broad.mit.edu 37 7 100675865 100675865 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:100675865G>A ENST00000306151.4 + 3 1232 c.1168G>A c.(1168-1170)Gaa>Aaa p.E390K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 390 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCTTAGTGAAGGAAGCAC 0.458000 123 162 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13876922 13876922 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13876922G>A ENST00000265104.4 - 22 3371 c.3267C>T c.(3265-3267)acC>acT p.T1089T CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1089 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTATCTCCAAGGTATCTAAAA 0.328000 Kartagener syndrome 18 53 0 0 0.006122 0 0 KMT2B 9757 broad.mit.edu 37 19 36223782 36223782 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:36223782C>T ENST00000420124.1 + 28 6332 c.6332C>T c.(6331-6333)tCg>tTg p.S2111L KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.S2111L GACCTGCCATCGGAAATTGTG 0.667000 4 21 0 0 0.000602 0 0 CACNA1I 8911 broad.mit.edu 37 22 40080330 40080330 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:40080330G>A ENST00000336649.4 + 39 5872 c.5872G>A c.(5872-5874)Gat>Aat p.D1958N CACNA1I_ENST00000407673.1_Missense_Mutation_p.D1917N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D1917N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D1952N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D1952N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D1917N Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1952 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CTTCTCCCCGGATGCCTCCAG 0.637000 8 14 0 0 0.004482 0 0 DNAH5 1767 broad.mit.edu 37 5 13923478 13923478 + Missense_Mutation SNP C C T rs116128702 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13923478C>T ENST00000265104.4 - 4 453 c.349G>A c.(349-351)Gag>Aag p.E117K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 117 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGTTTCCCTCGGTCACGAAC 0.448000 Kartagener syndrome 60 87 0 0 0.003610 0 0 NXPE1 120400 broad.mit.edu 37 11 114393812 114393812 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:114393812C>T ENST00000536271.1 - 3 1288 c.43_splice c.e3-1 p.K15_splice NXPE1_ENST00000251921.2_Splice_Site_p.K157_splice|NXPE1_ENST00000424269.1_Splice_Site_p.K299_splice neurexophilin and PC-esterase domain family, member 1 TTTTTTCTCTCTCTGGTAACA 0.398000 4 14 0 0 0.009096 0 0 LPHN3 23284 broad.mit.edu 37 4 62813953 62813953 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:62813953C>T ENST00000512091.1 + 16 3307 c.2560C>T c.(2560-2562)Cta>Tta p.L854L LPHN3_ENST00000508946.1_Silent_p.L854L|LPHN3_ENST00000506700.1_Silent_p.L854L|LPHN3_ENST00000504896.1_Silent_p.L854L|LPHN3_ENST00000509896.1_Silent_p.L922L|LPHN3_ENST00000506720.1_Silent_p.L922L|LPHN3_ENST00000506746.1_Silent_p.L922L|LPHN3_ENST00000514157.1_Silent_p.L854L|LPHN3_ENST00000511324.1_Silent_p.L922L|LPHN3_ENST00000514996.1_Silent_p.L854L|LPHN3_ENST00000508693.1_Silent_p.L922L|LPHN3_ENST00000514591.1_Silent_p.L854L|LPHN3_ENST00000507164.1_Silent_p.L922L|LPHN3_ENST00000545650.1_Silent_p.L854L|LPHN3_ENST00000507625.1_Silent_p.L922L Q9HAR2 LPHN3_HUMAN latrophilin 3 841 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTGTAACCACCTAACAAATTT 0.373000 12 20 0 0 0.001855 0 0 LLGL1 3996 broad.mit.edu 37 17 18138301 18138301 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:18138301G>A ENST00000316843.4 + 9 1150 c.1054G>A c.(1054-1056)Gag>Aag p.E352K NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 352 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) CACACGGCCCGAGGATGGTGC 0.612000 8 14 0 0 0.004482 0 0 PAPPA 5069 broad.mit.edu 37 9 118997908 118997908 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:118997908C>T ENST00000328252.3 + 7 3093 c.2724C>T c.(2722-2724)ttC>ttT p.F908F PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 908 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ATAGGAAATTCGTAGACATGT 0.517000 26 52 0 0 0.008361 0 0 C1orf101 257044 broad.mit.edu 37 1 244724036 244724036 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:244724036C>T ENST00000366534.4 + 10 1150 c.1096C>T c.(1096-1098)Ctt>Ttt p.L366F C1orf101_ENST00000366533.4_Missense_Mutation_p.L366F|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.L215F NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 366 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) ATCCATTCTTCTTAAGTTTGC 0.393000 18 24 0 0 0.006122 0 0 ECE2 9718 broad.mit.edu 37 3 184001643 184001643 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:184001643G>A ENST00000402825.3 + 8 1241 c.1241G>A c.(1240-1242)aGg>aAg p.R414K ECE2_ENST00000357474.5_Missense_Mutation_p.R342K|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R267K|ECE2_ENST00000404464.3_Missense_Mutation_p.R296K NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 414 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACCTCCACGAGGGAGCAGATG 0.612000 20 26 0 0 0.007413 0 0 UGT2A3 79799 broad.mit.edu 37 4 69798379 69798379 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:69798379G>A ENST00000251566.4 - 3 993 c.963C>T c.(961-963)atC>atT p.I321I UGT2A3_ENST00000420231.2_Silent_p.I32I NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 321 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CTGAAGCAATGATATTAGCCT 0.403000 47 91 0 0 0.003610 0 0 OSM 5008 broad.mit.edu 37 22 30660329 30660329 + Missense_Mutation SNP G G A rs144672631 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:30660329G>A ENST00000215781.2 - 3 342 c.302C>T c.(301-303)gCc>gTc p.A101V OSM_ENST00000403463.1_3'UTR|OSM_ENST00000403389.1_Missense_Mutation_p.A80V NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 101 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) GCCCAGTGTGGCATTGAGGGT 0.652000 11 21 0 0 0.000978 0 0 NAIP 4671 broad.mit.edu 37 5 70308419 70308419 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:70308419G>A ENST00000517649.1 - 4 614 c.324C>T c.(322-324)ggC>ggT p.G108G NAIP_ENST00000508426.2_Silent_p.G108G|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Silent_p.G108G|NAIP_ENST00000503719.2_Intron NM_004536.2 NP_004527.2 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein 108 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) GTCTCGTGAGGCCGGCACCAA 0.498000 23 42 0 0 0.003330 0 0 TRPM2 7226 broad.mit.edu 37 21 45795894 45795894 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:45795894G>A ENST00000397928.1 + 6 1395 c.950G>A c.(949-951)gGa>gAa p.G317E TRPM2_ENST00000300481.9_Missense_Mutation_p.G317E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.G317E|TRPM2_ENST00000397932.2_Missense_Mutation_p.G317E NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 317 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AAGGAAAGAGGAGGTAGGGGA 0.587000 20 35 0 0 0.010504 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27537777 27537777 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:27537777C>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA AATATAGTTTCCTTGGAAATT 0.408000 38 90 0 0 0.006230 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396887 38396887 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:38396887G>A ENST00000377698.3 + 2 1295 c.1142G>A c.(1141-1143)gGc>gAc p.G381D NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 381 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CAGAAGGAGGGCGCAAAACTC 0.567000 22 24 0 0 0.003330 0 0 BDP1 55814 broad.mit.edu 37 5 70805966 70805966 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:70805966G>A ENST00000358731.4 + 17 3310 c.3047G>A c.(3046-3048)gGa>gAa p.G1016E 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 1016 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) AACGCAACTGGAAGAGAGAGT 0.428000 26 60 0 0 0.007291 0 0 CDK17 5128 broad.mit.edu 37 12 96728504 96728504 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:96728504C>T ENST00000261211.3 - 2 714 c.111G>A c.(109-111)aaG>aaA p.K37K CDK17_ENST00000543119.2_Silent_p.K37K|CDK17_ENST00000542666.1_Intron NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 37 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 TACCATTATCCTTGCTGCTGT 0.343000 37 40 0 0 0.007835 0 0 DSE 29940 broad.mit.edu 37 6 116720492 116720492 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:116720492G>A ENST00000331677.3 + 3 523 c.79G>A c.(79-81)Gag>Aag p.E27K DSE_ENST00000359564.2_Missense_Mutation_p.E27K|DSE_ENST00000537543.1_Missense_Mutation_p.E46K|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.E27K Q9UL01 DSE_HUMAN dermatan sulfate epimerase 27 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CATCACCGACGAGAACCCAGA 0.522000 24 59 0 0 0.003330 0 0 FILIP1 27145 broad.mit.edu 37 6 76024394 76024394 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:76024394T>G ENST00000393004.2 - 5 1375 c.1154A>C c.(1153-1155)aAg>aCg p.K385T FILIP1_ENST00000237172.7_Missense_Mutation_p.K385T|FILIP1_ENST00000370020.1_Missense_Mutation_p.K286T|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 385 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 AAGCACACGCTTTCGAAGATT 0.423000 5 154 0 0 0.000602 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149212371 149212371 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:149212371G>A ENST00000309241.5 + 5 767 c.735G>A c.(733-735)aaG>aaA p.K245K PPARGC1B_ENST00000394320.3_Silent_p.K245K|PPARGC1B_ENST00000403750.1_Silent_p.K181K|PPARGC1B_ENST00000360453.4_Silent_p.K206K NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 245 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCCCTGCCAAGGAGGACAAGG 0.677000 17 50 0 0 0.004990 0 0 RYR2 6262 broad.mit.edu 37 1 237811866 237811866 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:237811866G>A ENST00000366574.2 + 49 7782 c.7465G>A c.(7465-7467)Gag>Aag p.E2489K RYR2_ENST00000542537.1_Missense_Mutation_p.E2473K|RYR2_ENST00000360064.6_Missense_Mutation_p.E2487K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2489 4 X approximate repeats. 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) CCATCTTCTTGAGGTTGGCTT 0.512000 5 14 0 0 0.001168 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454988 84454988 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:84454988C>T ENST00000377084.2 - 1 1540 c.655G>A c.(655-657)Gat>Aat p.D219N NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 219 LRRCT 1. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GAGAGCAGATCACAGGTGCAG 0.547000 25 34 0 0 0.003954 0 0 UBR3 130507 broad.mit.edu 37 2 170917924 170917924 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:170917924C>T ENST00000272793.5 + 35 5040 c.4990C>T c.(4990-4992)Ctt>Ttt p.L1664F UBR3_ENST00000392631.1_Missense_Mutation_p.L485F|UBR3_ENST00000418381.1_Missense_Mutation_p.L1664F Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1664 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TCAGCACCACCTTTTTGGGGA 0.428000 42 94 0 0 0.003214 0 0 OR1J1 347168 broad.mit.edu 37 9 125239481 125239481 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:125239481C>T ENST00000259357.2 - 1 754 c.725G>A c.(724-726)gGa>gAa p.G242E NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GAGGTGGGATCCACAAGTGGA 0.458000 29 17 0 0 0.007291 0 0 SCN2A 6326 broad.mit.edu 37 2 166172039 166172039 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:166172039G>A ENST00000357398.3 + 11 1732 c.1442G>A c.(1441-1443)gGa>gAa p.G481E SCN2A_ENST00000375437.2_Missense_Mutation_p.G481E|SCN2A_ENST00000283256.6_Missense_Mutation_p.G481E|SCN2A_ENST00000375427.2_Missense_Mutation_p.G481E Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 481 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GGTGGGATAGGAGTTTTTTCA 0.423000 29 72 0 0 0.009535 0 0 PLCE1 51196 broad.mit.edu 37 10 95790885 95790885 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:95790885G>A ENST00000260766.3 + 2 716 c.82G>A c.(82-84)Gaa>Aaa p.E28K PLCE1_ENST00000371380.2_Missense_Mutation_p.E28K NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 28 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GGCTGCAGATGAAAGTAGTGA 0.423000 15 19 0 0 0.003163 0 0 SLC38A10 124565 broad.mit.edu 37 17 79220107 79220107 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:79220107G>A ENST00000374759.3 - 16 2992 c.2609C>T c.(2608-2610)cCa>cTa p.P870L NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 870 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GCGCTCCTCTGGGCCCCCGGC 0.667000 41 61 0 0 0.002852 0 0 PARP1 142 broad.mit.edu 37 1 226566910 226566910 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:226566910C>T ENST00000366794.5 - 12 1821 c.1678G>A c.(1678-1680)Gtg>Atg p.V560M NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 560 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) ACGATGTCCACCAGGCCAAGG 0.527000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 20 99 0 0 0.008871 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049436 36049436 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:36049436G>A ENST00000282507.3 - 4 499 c.398C>T c.(397-399)tCc>tTc p.S133F UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.S99F NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 133 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATTCTTTAAGGAATCCATGAT 0.348000 16 33 0 0 0.003163 0 0 TRANK1 9881 broad.mit.edu 37 3 36874141 36874141 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:36874141G>A ENST00000429976.2 - 21 7048 c.6801C>T c.(6799-6801)atC>atT p.I2267I TRANK1_ENST00000428977.2_Silent_p.I1717I|TRANK1_ENST00000301807.6_Silent_p.I1717I O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2267 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 ACAGAAAGTGGATGTACTCCT 0.468000 25 61 0 0 0.003954 0 0 DCAF13 25879 broad.mit.edu 37 8 104427557 104427557 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:104427557C>T ENST00000297579.5 + 1 616 c.339C>T c.(337-339)tcC>tcT p.S113S NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GCCGCCGCTCCGCGAGTCACG 0.637000 18 36 0 0 0.004990 0 0 CSMD2 114784 broad.mit.edu 37 1 34038122 34038122 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:34038122G>A ENST00000373381.4 - 50 7922 c.7746C>T c.(7744-7746)gtC>gtT p.V2582V NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2584 Sushi 15. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACTGTGGTGGGACATTGCGGT 0.587000 37 97 0 0 0.004289 0 0 JMJD4 65094 broad.mit.edu 37 1 227920378 227920378 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:227920378C>T ENST00000366758.3 - 6 1107 c.e6-1 SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_Splice_Site|JMJD4_ENST00000438896.2_Splice_Site NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) TCATGATGACCTGGGCAGAGG 0.572000 11 18 0 0 0.000978 0 0 ARMC4 55130 broad.mit.edu 37 10 28270487 28270487 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:28270487C>G ENST00000305242.5 - 7 936 c.844G>C c.(844-846)Gtt>Ctt p.V282L ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.V139L NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 282 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TCATAATTAACGTCCCCTTCA 0.294000 35 110 0 0 0.008740 0 0 OR2M2 391194 broad.mit.edu 37 1 248343642 248343642 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:248343642G>T ENST00000359682.2 + 1 355 c.355G>T c.(355-357)Gct>Tct p.A119S NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGCTGTTATGGCTTATGACCG 0.418000 47 188 2.13384e-23 2.47881e-23 0.003610 1 0 DMXL2 23312 broad.mit.edu 37 15 51766543 51766543 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:51766543G>A ENST00000251076.5 - 28 7495 c.7208C>T c.(7207-7209)tCa>tTa p.S2403L DMXL2_ENST00000543779.2_Missense_Mutation_p.S2404L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1767L NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2403 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TATCTTACCTGAAATATTTTC 0.328000 20 46 0 0 0.010504 0 0 FRAS1 80144 broad.mit.edu 37 4 79258883 79258883 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:79258883C>T ENST00000264895.6 + 20 2774 c.2334C>T c.(2332-2334)tcC>tcT p.S778S FRAS1_ENST00000325942.6_Silent_p.S778S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 778 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACTGCATCTCCTGTTACCCTC 0.537000 36 133 0 0 0.004289 0 0 WASH6P 653440 broad.mit.edu 37 X 155252770 155252770 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:155252770G>A ENST00000285718.7 + 0 721 WASH6P_ENST00000461007.1_RNA CATTGCCAACGACCTCATGTA 0.607000 9 11 0 0 0.004482 0 0 TIGD3 220359 broad.mit.edu 37 11 65123718 65123718 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:65123718C>T ENST00000309880.5 + 2 646 c.439C>T c.(439-441)Cct>Tct p.P147S NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 147 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TTCATTCCCCCCTGAGCCACC 0.617000 36 79 0 0 0.004289 0 0 ZNF131 7690 broad.mit.edu 37 5 43174766 43174766 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:43174766C>T ENST00000509634.1 + 7 1757 c.1301C>T c.(1300-1302)tCa>tTa p.S434L ZNF131_ENST00000306938.4_Missense_Mutation_p.S434L|ZNF131_ENST00000505606.2_Missense_Mutation_p.S434L|ZNF131_ENST00000509156.1_Missense_Mutation_p.S468L|ZNF131_ENST00000399534.1_Missense_Mutation_p.S468L|ZNF131_ENST00000509931.1_Intron P52739 ZN131_HUMAN zinc finger protein 131 468 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 CCTGTAACATCAATGACTATT 0.428000 27 55 0 0 0.007291 0 0 PACS2 23241 broad.mit.edu 37 14 105848902 105848902 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:105848902C>T ENST00000447393.1 + 14 1677 c.1502C>T c.(1501-1503)tCg>tTg p.S501L PACS2_ENST00000458164.2_Missense_Mutation_p.S501L|PACS2_ENST00000325438.8_Missense_Mutation_p.S497L|PACS2_ENST00000430725.2_Missense_Mutation_p.S422L|PACS2_ENST00000547217.1_Missense_Mutation_p.S467L NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 497 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GTCAACACCTCGGACTGGCAG 0.582000 43 76 0 0 0.002852 0 0 CACNA1C 775 broad.mit.edu 37 12 2595388 2595388 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:2595388G>A ENST00000399655.1 + 6 1141 c.876G>A c.(874-876)ggG>ggA p.G292G CACNA1C_ENST00000399649.1_Silent_p.G292G|CACNA1C_ENST00000402845.3_Silent_p.G292G|CACNA1C_ENST00000399603.1_Silent_p.G292G|CACNA1C_ENST00000406454.3_Silent_p.G292G|CACNA1C_ENST00000399606.1_Silent_p.G292G|CACNA1C_ENST00000399601.1_Silent_p.G292G|CACNA1C_ENST00000335762.5_Silent_p.G292G|CACNA1C_ENST00000327702.7_Silent_p.G292G|CACNA1C_ENST00000399629.1_Silent_p.G292G|CACNA1C_ENST00000399621.1_Silent_p.G292G|CACNA1C_ENST00000399597.1_Silent_p.G292G|CACNA1C_ENST00000480911.1_Silent_p.G292G|CACNA1C_ENST00000399591.1_Silent_p.G292G|CACNA1C_ENST00000399634.1_Silent_p.G292G|CACNA1C_ENST00000399595.1_Silent_p.G292G|CACNA1C_ENST00000399638.1_Silent_p.G292G|CACNA1C_ENST00000399637.1_Silent_p.G292G|CACNA1C_ENST00000399617.1_Silent_p.G292G|CACNA1C_ENST00000344100.3_Silent_p.G292G|CACNA1C_ENST00000399641.1_Silent_p.G292G|CACNA1C_ENST00000399644.1_Silent_p.G292G|CACNA1C_ENST00000347598.4_Silent_p.G292G NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 292 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCTTCATGGGGAAGATGCACA 0.577000 20 48 0 0 0.010504 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20489461 20489461 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:20489461C>T ENST00000555186.1 + 0 449 NR_038836.1 AACACAACTTCATTCCTAAAG 0.428000 6 54 0 0 0.003080 0 0 OR2AG2 338755 broad.mit.edu 37 11 6790090 6790090 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:6790090G>A ENST00000338569.2 - 1 196 c.99C>T c.(97-99)atC>atT p.I33I NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACATGTATAGGATTGTAAATG 0.537000 32 47 0 0 0.009535 0 0 CSNK2A3 283106 broad.mit.edu 37 11 11374277 11374277 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:11374277G>C ENST00000528848.2 - 1 627 c.390C>G c.(388-390)gaC>gaG p.D130E GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA NM_001256686.1 NP_001243615.1 casein kinase 2, alpha 3 polypeptide GAATATCATAGTCTGTTAACG 0.423000 38 69 0 0 0.004878 0 0 LTF 4057 broad.mit.edu 37 3 46485071 46485071 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:46485071C>T ENST00000231751.4 - 13 1811 c.1516G>A c.(1516-1518)Gaa>Aaa p.E506K LTF_ENST00000417439.1_Missense_Mutation_p.E504K|LTF_ENST00000426532.2_Missense_Mutation_p.E462K NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 506 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CTGAAATATTCATCTGGAGAG 0.502000 40 114 0 0 0.003214 0 0 CCDC15 80071 broad.mit.edu 37 11 124857470 124857470 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:124857470C>T ENST00000529051.1 + 8 1607 c.1348C>T c.(1348-1350)Cta>Tta p.L450L CCDC15_ENST00000344762.5_Silent_p.L450L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 450 L -> P (in Ref. 3; BAB14504). centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CCAGGACTTCCTACCCAGAGA 0.408000 29 64 0 0 0.006320 0 0 DPYS 1807 broad.mit.edu 37 8 105405031 105405031 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:105405031C>T ENST00000351513.2 - 8 1556 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 475 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTGCTTTATTCGTTTGTAAAT 0.473000 58 105 0 0 0.003610 0 0 AVPR1B 553 broad.mit.edu 37 1 206224958 206224958 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:206224958C>T ENST00000367126.4 + 1 983 c.518C>T c.(517-519)tCc>tTc p.S173F NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 173 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TTCATTTTTTCCCTGCGGGAG 0.652000 21 39 0 0 0.002780 0 0 KIRREL3 84623 broad.mit.edu 37 11 126432784 126432784 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:126432784A>T ENST00000525144.2 - 2 328 c.79T>A c.(79-81)Tgc>Agc p.C27S KIRREL3_ENST00000533026.2_5'UTR|KIRREL3_ENST00000529097.2_Missense_Mutation_p.C27S|KIRREL3_ENST00000525704.2_Missense_Mutation_p.C27S|KIRREL3-AS1_ENST00000548204.1_RNA NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 27 hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) ACCAGACAGCATCCTCTCTTC 0.567000 13 37 0 0 0.003163 0 0 SLC6A17 388662 broad.mit.edu 37 1 110735150 110735150 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:110735150T>C ENST00000331565.4 + 8 1614 c.1129T>C c.(1129-1131)Tac>Cac p.Y377H NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 377 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) AATCCTAGGGTACCTTAACAC 0.542000 16 18 0 0 0.006122 0 0 RNF152 220441 broad.mit.edu 37 18 59483483 59483483 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:59483483C>T ENST00000312828.3 - 2 1313 c.214G>A c.(214-216)Gac>Aac p.D72N NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 72 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) ACCTCCGGGTCGTCCGGGAGC 0.637000 5 25 0 0 0.000602 0 0 RPRD2 23248 broad.mit.edu 37 1 150444353 150444353 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:150444353C>A ENST00000401000.4 + 10 2916 c.2851C>A c.(2851-2853)Ccg>Acg p.P951T RPRD2_ENST00000369068.4_Missense_Mutation_p.P977T|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Intron Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 977 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCTTTTCTCTCCGCAGAACAC 0.552000 95 177 1.22797e-34 1.42756e-34 0.003610 1 0 ENPP1 5167 broad.mit.edu 37 6 132173319 132173319 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:132173319G>A ENST00000360971.2 + 5 581 c.561G>A c.(559-561)gaG>gaA p.E187E NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 187 SMB 2. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TTTTAGGTGAGAAAAGTTGGG 0.318000 31 51 0 0 0.003755 0 0 KCNIP1 30820 broad.mit.edu 37 5 170145872 170145872 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:170145872C>T ENST00000328939.4 + 2 709 c.172C>T c.(172-174)Cga>Tga p.R58* KCNIP1_ENST00000520740.1_Nonsense_Mutation_p.R30*|KCNIP1_ENST00000390656.4_Nonsense_Mutation_p.R58*|KCNIP1_ENST00000377360.4_Nonsense_Mutation_p.R67*|KCNIP1_ENST00000434108.1_Nonsense_Mutation_p.R58*|KCNIP1_ENST00000411494.1_Nonsense_Mutation_p.R69* NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 69 EF-hand 1; degenerate. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity p.R69*(1) autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTCCTTTATCGAGGCTTCAA 0.587000 14 58 0 0 0.002450 0 0 SAGE1 55511 broad.mit.edu 37 X 134990694 134990694 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:134990694G>A ENST00000535938.1 + 12 1526 c.1359G>A c.(1357-1359)caG>caA p.Q453Q SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.Q453Q|SAGE1_ENST00000324447.3_Silent_p.Q453Q NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 453 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AACGAAAACAGGATAACGTCT 0.418000 47 21 0 0 0.002522 0 0 EFCAB6 64800 broad.mit.edu 37 22 43996122 43996122 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:43996122C>T ENST00000262726.7 - 23 2956 c.2703G>A c.(2701-2703)ggG>ggA p.G901G EFCAB6_ENST00000396231.2_Silent_p.G749G NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 901 EF-hand 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AAGTAATGTGCCCTTTTCCCT 0.423000 62 128 0 0 0.003610 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741262 140741262 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140741262C>T ENST00000522605.1 + 1 1560 c.1560C>T c.(1558-1560)ttC>ttT p.F520F PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGCGCCTTCGATCATGAGC 0.662000 16 41 0 0 0.006122 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110478830 110478830 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:110478830C>T ENST00000378402.5 + 50 8541 c.8437C>T c.(8437-8439)Cca>Tca p.P2813S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2813 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TACCGTCATTCCACACAGCTC 0.408000 HNSCC(38;0.096) 5 14 0 0 0.000602 0 0 RALGAPB 57148 broad.mit.edu 37 20 37168506 37168506 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:37168506C>T ENST00000262879.6 + 17 2751 c.2467C>T c.(2467-2469)Cct>Tct p.P823S RALGAPB_ENST00000397042.3_Missense_Mutation_p.P819S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P601S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.P823S Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 823 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TCGGCCAGCTCCTTTACACTC 0.488000 21 73 0 0 0.002780 0 0 KCNH7 90134 broad.mit.edu 37 2 163302698 163302698 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:163302698A>T ENST00000332142.5 - 7 1483 c.1384T>A c.(1384-1386)Ttt>Att p.F462I KCNH7_ENST00000328032.4_Missense_Mutation_p.F455I NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 462 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCTATGATAAACATAATATCC 0.363000 16 28 0 0 0.004007 0 0 CDH4 1002 broad.mit.edu 37 20 60348170 60348170 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:60348170G>A ENST00000360469.5 + 4 596 c.508G>A c.(508-510)Gac>Aac p.D170N CDH4_ENST00000543233.1_Missense_Mutation_p.D96N NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 170 Cadherin 1. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCGCAAACGGGACTGGGTCAT 0.701000 13 20 0 0 0.001855 0 0 TTN 7273 broad.mit.edu 37 2 179595373 179595373 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179595373C>T ENST00000589042.1 - 61 18111 c.17887G>A c.(17887-17889)Gaa>Aaa p.E5963K TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4719K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5646K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5646 Ig-like 40. 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) TTGTACTTTTCACTAGCTGAT 0.398000 39 66 0 0 0.005524 0 0 SPAG8 26206 broad.mit.edu 37 9 35811981 35811981 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:35811981G>A ENST00000340291.2 - 2 186 c.62C>T c.(61-63)cCc>cTc p.P21L SPAG8_ENST00000396638.2_Missense_Mutation_p.P21L|SPAG8_ENST00000484764.1_Missense_Mutation_p.P19L NM_172312.1 NP_758516.1 Q99932 SPAG8_HUMAN sperm associated antigen 8 21 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) TTCGGAGCTGGGCTGTATGTC 0.572000 22 26 0 0 0.001882 0 0 ACACA 31 broad.mit.edu 37 17 35470112 35470112 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:35470112G>A ENST00000353139.5 - 51 6844 c.6363C>T c.(6361-6363)ccC>ccT p.P2121P ACACA_ENST00000335166.5_Silent_p.P2006P|ACACA_ENST00000361253.5_Silent_p.P210P|ACACA_ENST00000394406.2_Silent_p.P2084P|ACACA_ENST00000360679.3_Silent_p.P2026P NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 2084 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GCTCAGCCTGGGGAGGAATGT 0.552000 8 33 0 0 0.006214 0 0 OR13D1 286365 broad.mit.edu 37 9 107457290 107457290 + Missense_Mutation SNP G G A rs149708960 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:107457290G>A ENST00000318763.5 + 1 631 c.588G>A c.(586-588)atG>atA p.M196I NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TTCTGACAATGATGTTGCCTT 0.418000 39 47 0 0 0.006999 0 0 PCSK5 5125 broad.mit.edu 37 9 78911753 78911753 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:78911753G>A ENST00000545128.1 + 27 4033 c.3495G>A c.(3493-3495)aaG>aaA p.K1165K NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 876 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ATGCCACCAAGACCCAGGAGG 0.577000 35 49 0 0 0.007835 0 0 BMPR1A 657 broad.mit.edu 37 10 88683459 88683459 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:88683459C>T ENST00000372037.2 + 13 2119 c.1582C>T c.(1582-1584)Caa>Taa p.Q528* NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 528 BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 GGTTGAATCCCAAGATGTAAA 0.438000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 15 21 0 0 0.004990 0 0 CACNG5 27091 broad.mit.edu 37 17 64881232 64881232 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:64881232G>A ENST00000533854.1 + 6 940 c.703G>A c.(703-705)Gac>Aac p.D235N CACNG5_ENST00000307139.3_Missense_Mutation_p.D235N Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 235 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CCTACACCCAGACGCCTGGGT 0.637000 11 39 0 0 0.000978 0 0 AACS 65985 broad.mit.edu 37 12 125570980 125570980 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:125570980C>T ENST00000316519.6 + 4 669 c.463C>T c.(463-465)Cgg>Tgg p.R155W AACS_ENST00000261686.6_Missense_Mutation_p.R155W NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 155 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GAAAGGAGATCGGGTTGTTGG 0.468000 23 30 0 0 0.002299 0 0 PCSK6 5046 broad.mit.edu 37 15 101905247 101905247 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:101905247C>T ENST00000344273.2 - 15 1857 c.1858G>A c.(1858-1860)Gat>Aat p.D620N PCSK6_ENST00000398181.2_Intron|PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000331826.7_Missense_Mutation_p.D455N|PCSK6_ENST00000348070.1_Intron NM_138324.1 NP_612197.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 621 Homo B/P. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) gtctcaagatcacctaatggg 0.413000 36 28 0 0 0.006999 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723340 58723340 + Missense_Mutation SNP G G A rs145479301 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:58723340G>A ENST00000300079.5 + 7 892 c.842G>A c.(841-843)cGa>cAa p.R281Q GLYATL1_ENST00000317391.4_Missense_Mutation_p.R250Q|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 250 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) GTGATGGTGCGATACATGAAA 0.453000 15 31 0 0 0.004007 0 0 ZNF324B 388569 broad.mit.edu 37 19 58966440 58966440 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:58966440C>T ENST00000391696.1 + 3 1031 c.99C>T c.(97-99)ttC>ttT p.F33F ZNF324B_ENST00000545523.1_Intron|ZNF324B_ENST00000336614.4_Intron Q6AW86 Z324B_HUMAN zinc finger protein 324B 184 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TCTTCTTTTTCCCTAAGCTTT 0.612000 4 10 0 0 0.009096 0 0 NEB 4703 broad.mit.edu 37 2 152492816 152492816 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:152492816C>T ENST00000427231.2 - 64 9229 c.9027G>A c.(9025-9027)aaG>aaA p.K3009K NEB_ENST00000603639.1_Silent_p.K3009K|NEB_ENST00000604864.1_Silent_p.K3009K|NEB_ENST00000172853.10_Intron|NEB_ENST00000397345.3_Silent_p.K3009K|NEB_ENST00000409198.1_Intron NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 3009 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGCCTTTCTTCTTTGCTTCTT 0.438000 6 21 0 0 0.001984 0 0 DOK2 9046 broad.mit.edu 37 8 21767128 21767128 + Silent SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:21767128C>A ENST00000276420.4 - 5 1191 c.933G>T c.(931-933)ggG>ggT p.G311G DOK2_ENST00000544659.1_Silent_p.G157G NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 311 blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TGAAGTTCTTCCCCAAGGAAC 0.657000 35 60 1.69901e-12 1.96484e-12 0.005524 1 0 DNAH8 1769 broad.mit.edu 37 6 38980349 38980349 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:38980349T>A ENST00000359357.3 + 89 13253 c.12999T>A c.(12997-12999)ttT>ttA p.F4333L DNAH8_ENST00000441566.1_Missense_Mutation_p.F4297L 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 ATGCTCAGTTTTCTACGTGGA 0.433000 60 138 0 0 0.003610 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68691497 68691497 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:68691497C>T ENST00000283916.6 - 9 1146 c.1048G>A c.(1048-1050)Gga>Aga p.G350R RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G233R NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 350 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CACAGCATTCCAGACAAGATG 0.443000 22 28 0 0 0.001882 0 0 DYRK2 8445 broad.mit.edu 37 12 68051584 68051584 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:68051584G>A ENST00000344096.3 + 3 1310 c.897G>A c.(895-897)atG>atA p.M299I DYRK2_ENST00000393555.3_Missense_Mutation_p.M226I NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 299 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) ACATCTGCATGACGTTTGAGC 0.473000 57 2873 0 0 0.007413 0 0 B3GAT1 27087 broad.mit.edu 37 11 134257550 134257550 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:134257550G>A ENST00000524765.1 - 2 4548 c.4C>T c.(4-6)Ccg>Tcg p.P2S B3GAT1_ENST00000537389.1_Missense_Mutation_p.P15S|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P2S|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P2S Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 2 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CGTCTCTTCGGCATCTCCAAG 0.642000 12 24 0 0 0.000978 0 0 PURA 5813 broad.mit.edu 37 5 139494086 139494086 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:139494086C>T ENST00000331327.3 + 1 379 c.320C>T c.(319-321)gCc>gTc p.A107V NM_005859.4 NP_005850.1 Q00577 PURA_HUMAN purine-rich element binding protein A 107 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGTCAGTGGCCGTGGAGTTC 0.682000 4 16 0 0 0.009096 0 0 AKAP3 10566 broad.mit.edu 37 12 4737061 4737061 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:4737061G>A ENST00000545990.2 - 5 1531 c.1007C>T c.(1006-1008)tCc>tTc p.S336F AKAP3_ENST00000228850.1_Missense_Mutation_p.S336F NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 336 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 CCTCAAGAAGGAGTCGATGAG 0.483000 18 33 0 0 0.006122 0 0 TET2 54790 broad.mit.edu 37 4 106155145 106155145 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:106155145C>T ENST00000540549.1 + 3 906 c.46C>T c.(46-48)Cca>Tca p.P16S TET2_ENST00000380013.4_Missense_Mutation_p.P16S|TET2_ENST00000413648.2_Missense_Mutation_p.P16S|TET2_ENST00000305737.2_Missense_Mutation_p.P16S|TET2_ENST00000394764.1_Missense_Mutation_p.P16S|TET2_ENST00000513237.1_Missense_Mutation_p.P37S|TET2_ENST00000545826.1_Missense_Mutation_p.P16S Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 16 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CAGACTAAGTCCATTCCTGAT 0.502000 """Mis N, F""" MDS 8 27 0 0 0.003080 0 0 OSBPL5 114879 broad.mit.edu 37 11 3121463 3121463 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:3121463C>T ENST00000263650.7 - 14 1705 c.1546G>A c.(1546-1548)Gac>Aac p.D516N OSBPL5_ENST00000348039.5_Missense_Mutation_p.D448N|OSBPL5_ENST00000542243.1_Missense_Mutation_p.D147N|OSBPL5_ENST00000389989.3_Missense_Mutation_p.D448N|OSBPL5_ENST00000525498.1_Missense_Mutation_p.D427N NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 516 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GCTTTGCCGTCCAGCAGCGCC 0.607000 11 24 0 0 0.001855 0 0 TPTE 7179 broad.mit.edu 37 21 10908892 10908892 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:10908892G>A ENST00000298232.7 - 22 1766 c.1399C>T c.(1399-1401)Ctt>Ttt p.L467F TPTE_ENST00000342420.5_Missense_Mutation_p.L447F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.L485F NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 485 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L467I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TATGTAGGAAGATTCTAAAAA 0.269000 4 40 0 0 0.000602 0 0 BZRAP1 9256 broad.mit.edu 37 17 56389063 56389063 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:56389063C>T ENST00000355701.3 - 18 3820 c.2950G>A c.(2950-2952)Gat>Aat p.D984N BZRAP1_ENST00000343736.4_Missense_Mutation_p.D984N|BZRAP1_ENST00000268893.6_Missense_Mutation_p.D924N NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 984 Fibronectin type-III 3. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATCTGCACATCCAGAGGGGCA 0.607000 10 20 0 0 0.000978 0 0 PRKACB 5567 broad.mit.edu 37 1 84662426 84662426 + Splice_Site SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:84662426G>T ENST00000370689.2 + 6 810 c.e6+1 PRKACB_ENST00000370682.3_Splice_Site|PRKACB_ENST00000394839.2_Splice_Site|PRKACB_ENST00000370685.3_Splice_Site|PRKACB_ENST00000370688.3_Splice_Site|PRKACB_ENST00000394838.2_Splice_Site|PRKACB_ENST00000370680.1_Splice_Site NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) CTATATCCAGGTATGACTTTA 0.353000 17 23 1.67942e-08 1.93639e-08 0.006122 1 0 ZMYM6 9204 broad.mit.edu 37 1 35474514 35474514 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:35474514G>A ENST00000357182.4 - 11 1731 c.1504C>T c.(1504-1506)Ctc>Ttc p.L502F ZMYM6_ENST00000487874.1_Missense_Mutation_p.L502F|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.L502F NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 502 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) CGGGCAGAGAGGAATTTGCAA 0.403000 18 56 0 0 0.007413 0 0 DSG4 147409 broad.mit.edu 37 18 28989458 28989458 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:28989458G>A ENST00000359747.4 + 13 2006 c.1977G>A c.(1975-1977)caG>caA p.Q659Q RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.Q659Q NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 659 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AACAGAGACAGCCAGAAGGCC 0.532000 33 102 0 0 0.003271 0 0 OR10A3 26496 broad.mit.edu 37 11 7960190 7960190 + Missense_Mutation SNP C C T rs146552050 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:7960190C>T ENST00000360759.3 - 1 951 c.878G>A c.(877-879)cGa>cAa p.R293Q NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCACTGTTTCGTAAGCTATA 0.418000 14 43 0 0 0.002450 0 0 POTEE 445582 broad.mit.edu 37 2 131985849 131985849 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:131985849C>T ENST00000356920.5 + 5 1044 c.950C>T c.(949-951)tCa>tTa p.S317L PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S327L|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 317 ATP binding TGTTGTGGATCAGCAAGTATA 0.358000 26 67 0 0 0.002836 0 0 NFE2 4778 broad.mit.edu 37 12 54686780 54686780 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:54686780C>T ENST00000540264.2 - 2 1009 c.500G>A c.(499-501)cGg>cAg p.R167Q NFE2_ENST00000435572.2_Missense_Mutation_p.R167Q|NFE2_ENST00000312156.4_Missense_Mutation_p.R167Q|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.R167Q Q16621 NFE2_HUMAN nuclear factor, erythroid 2 167 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 GCTGCGCCGCCGACCAGCCTC 0.557000 33 97 0 0 0.003271 0 0 CD84 8832 broad.mit.edu 37 1 160519728 160519728 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:160519728G>A ENST00000368051.3 - 5 868 c.802C>T c.(802-804)Cga>Tga p.R268* CD84_ENST00000368048.3_Silent_p.S311S|CD84_ENST00000368054.3_Silent_p.S300S|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Silent_p.S186S|CD84_ENST00000311224.4_Silent_p.S317S NM_001184881.1 NP_001171810.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 0 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity p.S300S(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ACTGCACTTCGGAATAAACTG 0.512000 8 48 0 0 0.008291 0 0 FMOD 2331 broad.mit.edu 37 1 203317141 203317141 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:203317141G>A ENST00000354955.4 - 2 721 c.258C>T c.(256-258)ttC>ttT p.F86F FMOD_ENST00000464898.1_Intron NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 86 Cys-rich.|LRRNT. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) TGGCCGTGGGGAAGTTGGGTG 0.592000 5 7 0 0 0.001168 0 0 PARP14 54625 broad.mit.edu 37 3 122399887 122399887 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:122399887C>T ENST00000474629.2 + 1 423 c.157C>T c.(157-159)Cgc>Tgc p.R53C NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GAGCCCATCCCGCTTCCTGGT 0.657000 17 34 0 0 0.003954 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450719 105450719 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:105450719G>A ENST00000337685.2 + 5 2079 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K MUM1L1_ENST00000357175.2_Missense_Mutation_p.E432K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.E432K NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 432 PWWP. autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CATGAATTCTGAAAAGAAGGG 0.343000 21 10 0 0 0.008871 0 0 TCHH 7062 broad.mit.edu 37 1 152084928 152084928 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:152084928C>T ENST00000368804.1 - 2 764 c.765G>A c.(763-765)aaG>aaA p.K255K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 255 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCTTCTTCCTTCCGGAGCA 0.587000 31 162 0 0 0.009535 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077573 32077573 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:32077573C>T ENST00000354689.6 + 0 188 RP11-1166P10.6_ENST00000566806.1_RNA TACGCAGACTCTGTGAAAGGC 0.517000 65 227 0 0 0.003610 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756836 49756836 + Silent SNP C C T rs140696690 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:49756836C>T ENST00000535833.1 - 10 3513 c.63G>A c.(61-63)ccG>ccA p.P21P GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.P21P Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 21 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCTCGGAGTCCGGGGTGCCTA 0.642000 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 52 0 0 0.001882 0 0 GALNT10 55568 broad.mit.edu 37 5 153709265 153709265 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:153709265G>A ENST00000297107.6 + 4 672 c.535G>A c.(535-537)Gag>Aag p.E179K SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.E179K|GALNT10_ENST00000377661.2_Missense_Mutation_p.E179K NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 179 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GCTGGTCGCCGAGATTGTACT 0.597000 12 18 0 0 0.002450 0 0 TINAG 27283 broad.mit.edu 37 6 54212204 54212204 + Missense_Mutation SNP G G A rs75755871 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:54212204G>A ENST00000259782.4 + 6 884 c.788G>A c.(787-789)cGa>cAa p.R263Q NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 263 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TCTAAGGGTCGATACACGGCC 0.423000 22 38 0 0 0.002780 0 0 OR10H3 26532 broad.mit.edu 37 19 15852893 15852893 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:15852893C>T ENST00000305892.1 + 1 691 c.691C>T c.(691-693)Cct>Tct p.P231S NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CTTGAGGATTCCTTCTGCTGA 0.502000 59 128 0 0 0.003610 0 0 ITGAD 3681 broad.mit.edu 37 16 31434754 31434754 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:31434754G>A ENST00000389202.2 + 25 2990 c.2941G>A c.(2941-2943)Gat>Aat p.D981N NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 981 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 GGCTGTGTGGGATGTGGTCAT 0.547000 31 34 0 0 0.002096 0 0 ABCB11 8647 broad.mit.edu 37 2 169788930 169788930 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:169788930C>T ENST00000263817.6 - 24 3294 c.3170G>A c.(3169-3171)cGa>cAa p.R1057Q NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1057 bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TGGGGGTTGTCGGTCCAGCAG 0.433000 3 7 0 0 0.004672 0 0 NBAS 51594 broad.mit.edu 37 2 15319127 15319127 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:15319127G>A ENST00000281513.5 - 51 6850 c.6825C>T c.(6823-6825)atC>atT p.I2275I NBAS_ENST00000441750.1_Silent_p.I2155I NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 2275 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TGACTGCCGTGATTTGCTCCA 0.418000 15 31 0 0 0.003163 0 0 DDX46 9879 broad.mit.edu 37 5 134102645 134102645 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:134102645G>A ENST00000452510.2 + 3 403 c.245G>A c.(244-246)cGa>cAa p.R82Q DDX46_ENST00000354283.4_Missense_Mutation_p.R82Q NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 82 Arg-rich. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCCGAGAGCGAAGAAGATCT 0.488000 12 20 0 0 0.000978 0 0 FOCAD 54914 broad.mit.edu 37 9 20862683 20862683 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:20862683C>T ENST00000380249.1 + 18 2391 c.2027C>T c.(2026-2028)tCc>tTc p.S676F FOCAD_ENST00000338382.6_Missense_Mutation_p.S676F|FOCAD_ENST00000605086.1_Missense_Mutation_p.S112F NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 676 integral to membrane binding p.S676Y(1) CTAGTTCCTTCCTTAACGGTC 0.413000 26 46 0 0 0.003330 0 0 GTSF1 121355 broad.mit.edu 37 12 54865020 54865020 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:54865020A>G ENST00000552397.1 - 2 909 c.13T>C c.(13-15)Tac>Cac p.Y5H GTSF1_ENST00000305879.5_Missense_Mutation_p.Y5H|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_5'UTR Q8WW33 GTSF1_HUMAN gametocyte specific factor 1 5 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) TACATACTGTAAGTTTCTTCC 0.338000 10 25 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179495906 179495906 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179495906C>T ENST00000589042.1 - 237 44093 c.43869G>A c.(43867-43869)aaG>aaA p.K14623K TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.K5683K|TTN_ENST00000342992.6_Silent_p.K12055K|TTN_ENST00000460472.2_Silent_p.K5558K|TTN_ENST00000342175.6_Silent_p.K5750K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.K12982K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12982 Ig-like 96. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTTATTTCCTTCCCATCCT 0.373000 21 42 0 0 0.002780 0 0 CWC27 10283 broad.mit.edu 37 5 64267545 64267545 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:64267545C>T ENST00000381070.3 + 12 1275 c.1058C>T c.(1057-1059)cCa>cTa p.P353L CWC27_ENST00000545000.1_3'UTR NM_005869.2 NP_005860.2 Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 353 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 GAAGCCCCTCCAGATGGTGCT 0.403000 20 61 0 0 0.008871 0 0 NPAP1 23742 broad.mit.edu 37 15 24924009 24924009 + Nonsense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:24924009G>T ENST00000329468.2 + 1 3469 c.2995G>T c.(2995-2997)Gga>Tga p.G999* NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTTACTGGTTGGAAATACTAT 0.527000 6 28 0.00116845 0.00134124 0.001168 1 0 RAD54L2 23132 broad.mit.edu 37 3 51697086 51697086 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:51697086C>T ENST00000409535.1 + 22 4179 c.4054C>T c.(4054-4056)Ccc>Tcc p.P1352S RAD54L2_ENST00000296477.3_Missense_Mutation_p.P1046S NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 1352 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) GCCAGCAGGCCCCGTCAGTTC 0.577000 29 75 0 0 0.008361 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138197164 138197164 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:138197164C>T ENST00000237289.4 + 5 732 c.666C>T c.(664-666)tcC>tcT p.S222S TNFAIP3_ENST00000485192.1_3'UTR NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 222 OTU.|TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) AATCAGGTTCCAATTTCGCCC 0.443000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 20 62 0 0 0.002299 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22433702 22433702 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:22433702G>A ENST00000390442.3 + 0 23 TCGTGTTTAAGGTTTGAATCC 0.353000 17 26 0 0 0.007413 0 0 CCDC81 60494 broad.mit.edu 37 11 86097144 86097144 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:86097144C>T ENST00000445632.2 + 2 403 c.131C>T c.(130-132)aCc>aTc p.T44I CCDC81_ENST00000354755.1_Missense_Mutation_p.T44I|CCDC81_ENST00000278487.3_5'UTR NM_001156474.1 NP_001149946.1 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 44 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) CGGCAGTTAACCCTGCACAAG 0.289000 7 15 0 0 0.003080 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679660 160679660 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:160679660C>T ENST00000366952.1 - 3 1548 c.67G>A c.(67-69)Ggc>Agc p.G23S SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.G44S O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 44 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GGGGTGAAGCCCAGGAAGACG 0.612000 11 66 0 0 0.001368 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113520099 113520099 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:113520099G>A ENST00000284601.3 - 4 1116 c.1048C>T c.(1048-1050)Cca>Tca p.P350S NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 350 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GCTTTATTTGGAAAATTGACT 0.373000 75 78 0 0 0.003610 0 0 FGA 2243 broad.mit.edu 37 4 155507206 155507206 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:155507206G>A ENST00000302053.3 - 5 1453 c.1375C>T c.(1375-1377)Cgt>Tgt p.R459C FGA_ENST00000403106.3_Missense_Mutation_p.R459C NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 459 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GAGCATGAACGACGCGTGGTG 0.463000 32 168 0 0 0.003271 0 0 DAAM1 23002 broad.mit.edu 37 14 59820639 59820639 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:59820639G>A ENST00000395125.1 + 19 2366 c.2343G>A c.(2341-2343)aaG>aaA p.K781K DAAM1_ENST00000351081.1_Silent_p.K781K|DAAM1_ENST00000360909.3_Silent_p.K771K|DAAM1_ENST00000553966.1_3'UTR NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 781 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) ACTTCAAAAAGAAGTTTGCAG 0.348000 5 19 0 0 0.000602 0 0 RYR1 6261 broad.mit.edu 37 19 39008051 39008051 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:39008051G>A ENST00000355481.4 + 66 9869 c.9738G>A c.(9736-9738)ctG>ctA p.L3246L RYR1_ENST00000360985.3_Silent_p.L3246L|RYR1_ENST00000359596.3_Silent_p.L3246L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3246 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) TCCCGGTGCTGGAGCGGCTCA 0.632000 15 49 0 0 0.006122 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136827 40136827 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:40136827C>T ENST00000278198.2 - 2 2979 c.1016G>A c.(1015-1017)aGg>aAg p.R339K LRRC4C_ENST00000528697.1_Missense_Mutation_p.R339K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R339K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R339K Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 339 LRRCT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TCCAATGTACCTCCCCTTTAG 0.527000 16 37 0 0 0.003163 0 0 OR5B3 441608 broad.mit.edu 37 11 58170535 58170535 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:58170535C>T ENST00000309403.2 - 1 347 c.348G>A c.(346-348)atG>atA p.M116I NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGTCATAGGCCATTGAGGCCA 0.463000 33 68 0 0 0.002836 0 0 RGS22 26166 broad.mit.edu 37 8 101075756 101075756 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:101075756C>T ENST00000360863.6 - 8 1434 c.1240G>A c.(1240-1242)Gag>Aag p.E414K RGS22_ENST00000523437.1_Missense_Mutation_p.E402K|RGS22_ENST00000523287.1_Missense_Mutation_p.E233K NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 414 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CTTTCAAACTCCTTTCTATTG 0.388000 26 78 0 0 0.003954 0 0 RSPH10B 222967 broad.mit.edu 37 7 5968013 5968013 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:5968013C>T ENST00000405415.1 - 19 2632 c.2246G>A c.(2245-2247)aGa>aAa p.R749K RSPH10B_ENST00000404406.1_Missense_Mutation_p.R749K|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.R749K|RSPH10B_ENST00000441023.2_Missense_Mutation_p.R749K B2RC85 R10B2_HUMAN radial spoke head 10 homolog B (Chlamydomonas) 749 breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4) 11 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974) ATCCTTGGGTCTCTCATATTT 0.438000 37 184 0 0 0.003610 0 0 EVPL 2125 broad.mit.edu 37 17 74019684 74019684 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:74019684C>T ENST00000301607.3 - 3 503 c.250G>A c.(250-252)Ggc>Agc p.G84S EVPL_ENST00000586740.1_Missense_Mutation_p.G84S NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 84 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 AGGCTGCGGCCCGTCTCCTGC 0.667000 8 10 0 0 0.003080 0 0 CAPN11 11131 broad.mit.edu 37 6 44144036 44144036 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:44144036C>T ENST00000542245.1 + 9 1000 c.962C>T c.(961-963)cCc>cTc p.P321L CAPN11_ENST00000398776.1_Missense_Mutation_p.P321L Q9UMQ6 CAN11_HUMAN calpain 11 321 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GTCCGGAATCCCTGGGGCCGG 0.592000 19 59 0 0 0.002780 0 0 C10orf71 118461 broad.mit.edu 37 10 50532237 50532237 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:50532237G>A ENST00000374144.3 + 3 1935 c.1647G>A c.(1645-1647)gaG>gaA p.E549E C10orf71_ENST00000323868.4_Silent_p.E549E Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 549 endometrium(1) 1 ATGGGCTTGAGGAAAGCCCTC 0.517000 10 16 0 0 0.008291 0 0 RALGPS2 55103 broad.mit.edu 37 1 178875917 178875917 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:178875917C>T ENST00000367635.3 + 19 1975 c.1637C>T c.(1636-1638)tCg>tTg p.S546L RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L|RALGPS2_ENST00000324778.4_Missense_Mutation_p.S511L NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 546 PH.|Required for stimulation of nucleotide exchange by RALA (By similarity). small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding p.S546L(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TTAGGAAATTCGTACAAGTTT 0.333000 6 24 0 0 0.004482 0 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013751 117013751 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:117013751C>T ENST00000306985.4 + 2 158 c.4C>T c.(4-6)Ccg>Tcg p.P2S MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.P2S NM_001085481.1 NP_001078950.1 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 beta 2 2 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule breast(1)|large_intestine(2)|lung(3) 6 CCACACCATGCCGTCGGAGAA 0.627000 20 27 0 0 0.008871 0 0 HECTD3 79654 broad.mit.edu 37 1 45474040 45474040 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:45474040A>G ENST00000372168.3 - 1 183 c.22T>C c.(22-24)Tac>Cac p.Y8H HECTD3_ENST00000372172.4_Intron Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 0 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) GCATACCTGTAACACCCCCAA 0.512000 10 24 0 0 0.008291 0 0 CATSPERB 79820 broad.mit.edu 37 14 92189438 92189438 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:92189438G>A ENST00000256343.3 - 4 420 c.264C>T c.(262-264)atC>atT p.I88I NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 88 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TACTATTCATGATTCCCAAGC 0.338000 20 43 0 0 0.010504 0 0 DOCK8 81704 broad.mit.edu 37 9 340236 340236 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:340236C>T ENST00000432829.2 + 14 1706 c.1390C>T c.(1390-1392)Ccc>Tcc p.P464S DOCK8_ENST00000453981.1_Missense_Mutation_p.P532S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P464S NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 532 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GCCCGTGAAACCCTTTCCTGA 0.453000 33 34 0 0 0.004878 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315425 30315425 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:30315425G>A ENST00000375377.1 - 3 3753 c.3652C>T c.(3652-3654)Cat>Tat p.H1218Y NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1218 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCTACAAAATGGAATAAAGTG 0.493000 49 105 0 0 0.003610 0 0 ZNF862 643641 broad.mit.edu 37 7 149559258 149559258 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:149559258C>T ENST00000223210.4 + 7 3254 c.3009C>T c.(3007-3009)ctC>ctT p.L1003L NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 1003 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 CCCAGCACCTCCCGTTCTCCA 0.597000 58 29 0 0 0.003610 0 0 SLC5A4 6527 broad.mit.edu 37 22 32628921 32628921 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:32628921A>C ENST00000266086.4 - 9 997 c.986T>G c.(985-987)gTg>gGg p.V329G RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 329 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CCCCGGCATCACCATGAGGAA 0.478000 9 47 0 0 0.004482 0 0 EHD3 30845 broad.mit.edu 37 2 31489531 31489531 + Silent SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:31489531C>A ENST00000322054.5 + 6 1854 c.1569C>A c.(1567-1569)gcC>gcA p.A523A EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 523 EH. blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) AGCTGCCTGCCCACCTCCTGC 0.602000 23 47 9.57634e-11 1.1054e-10 0.003330 1 0 SLC5A9 200010 broad.mit.edu 37 1 48698123 48698123 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:48698123C>T ENST00000236495.5 + 9 1107 c.1057C>T c.(1057-1059)Ccc>Tcc p.P353S SLC5A9_ENST00000438567.2_Missense_Mutation_p.P328S|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.P349S NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 328 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 GAAGATCCTCCCCATGTTCTT 0.572000 16 40 0 0 0.006122 0 0 GMDS 2762 broad.mit.edu 37 6 1742745 1742745 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:1742745C>T ENST00000380815.4 - 8 1116 c.847G>A c.(847-849)Gaa>Aaa p.E283K GMDS_ENST00000530927.1_Missense_Mutation_p.E253K NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 283 '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) TCGACAAATTCCCGGACACTA 0.458000 19 38 0 0 0.010504 0 0 DCLK1 9201 broad.mit.edu 37 13 36379916 36379916 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:36379916C>T ENST00000255448.4 - 15 2075 c.1863_splice c.e15-1 p.E622_splice DCLK1_ENST00000360631.3_Splice_Site_p.E622_splice|DCLK1_ENST00000379893.1_Splice_Site_p.E315_splice NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 622 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GTAATGAGCTCCTGTGAAGGG 0.408000 32 60 0 0 0.002445 0 0 SPTB 6710 broad.mit.edu 37 14 65239632 65239632 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:65239632C>T ENST00000389722.3 - 25 5272 c.5219G>A c.(5218-5220)gGg>gAg p.G1740E SPTB_ENST00000556626.1_Missense_Mutation_p.G1740E|SPTB_ENST00000389720.3_Missense_Mutation_p.G1740E|SPTB_ENST00000389721.5_Missense_Mutation_p.G1740E|SPTB_ENST00000542895.1_Missense_Mutation_p.G1740E NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1740 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) CCCAATCGCCCCGGTCTCCCG 0.627000 6 24 0 0 0.003080 0 0 ZNF648 127665 broad.mit.edu 37 1 182026812 182026812 + Missense_Mutation SNP C C T rs141227760 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:182026812C>T ENST00000339948.3 - 2 541 c.334G>A c.(334-336)Gag>Aag p.E112K NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 CCCTGGGTCTCGTTGATCTTT 0.547000 34 53 0 0 0.002836 0 0 MRPL28 10573 broad.mit.edu 37 16 418546 418546 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:418546G>A ENST00000199706.8 - 4 566 c.531C>T c.(529-531)caC>caT p.H177H MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Silent_p.H177H NM_006428.4 NP_006419.2 Q13084 RM28_HUMAN mitochondrial ribosomal protein L28 177 translation mitochondrial ribosome protein binding|structural constituent of ribosome breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1) 5 Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064) GGTCCTCGGGGTGCAGCTGGG 0.677000 19 31 0 0 0.008871 0 0 RPL22 6146 broad.mit.edu 37 1 6253107 6253107 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:6253107A>G ENST00000234875.4 - 3 163 c.125T>C c.(124-126)tTt>tCt p.F42S RPL22_ENST00000497965.1_Missense_Mutation_p.F9S|RPL22_ENST00000484532.1_Missense_Mutation_p.F9S NM_000983.3 NP_000974.1 P35268 RL22_HUMAN ribosomal protein L22 42 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) TTCTTGCAAAAACTGCTCCTG 0.423000 T RUNX1 """AML, CML""" 17 52 0 0 0.006122 0 0 CYP26B1 56603 broad.mit.edu 37 2 72361998 72361998 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:72361998G>A ENST00000001146.2 - 4 956 c.753C>T c.(751-753)atC>atT p.I251I CYP26B1_ENST00000546307.1_Silent_p.I176I|CYP26B1_ENST00000412253.1_Silent_p.I60I NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 251 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 GCTTCTCCCGGATGGCCTTCT 0.607000 16 37 0 0 0.007413 0 0 DHTKD1 55526 broad.mit.edu 37 10 12155038 12155038 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:12155038C>T ENST00000263035.4 + 13 2356 c.2294C>T c.(2293-2295)tCc>tTc p.S765F NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 765 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) ATTGTTGCTTCCCCTAAGATG 0.443000 142 283 0 0 0.003610 0 0 VWA8 23078 broad.mit.edu 37 13 42404772 42404772 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:42404772G>A ENST00000379310.3 - 14 1661 c.1593C>T c.(1591-1593)atC>atT p.I531I VWA8_ENST00000281496.6_Silent_p.I531I NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 CTCGATCATGGATTAACCTAA 0.398000 23 50 0 0 0.002780 0 0 POU6F2 11281 broad.mit.edu 37 7 39247156 39247156 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:39247156C>T ENST00000518318.2 + 4 490 c.448C>T c.(448-450)Caa>Taa p.Q150* POU6F2_ENST00000559001.1_Nonsense_Mutation_p.Q142*|POU6F2_ENST00000403058.1_Nonsense_Mutation_p.Q150*|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 150 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CACCAACATCCAAGGGCTGGT 0.542000 16 41 0 0 0.006122 0 0 ZBBX 79740 broad.mit.edu 37 3 166960382 166960382 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:166960382G>A ENST00000392766.2 - 20 2527 c.2187C>T c.(2185-2187)ttC>ttT p.F729F ZBBX_ENST00000392767.2_Silent_p.F729F|ZBBX_ENST00000455345.2_Silent_p.F768F|ZBBX_ENST00000307529.5_Silent_p.F768F|ZBBX_ENST00000392764.1_Silent_p.F700F NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 729 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ATTGGCTGCTGAAATCTGGGA 0.368000 16 36 0 0 0.007413 0 0 ITSN1 6453 broad.mit.edu 37 21 35122567 35122567 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:35122567C>T ENST00000381318.3 + 6 754 c.466C>T c.(466-468)Ccc>Tcc p.P156S ITSN1_ENST00000379960.5_Missense_Mutation_p.P156S|ITSN1_ENST00000381285.4_Missense_Mutation_p.P156S|ITSN1_ENST00000399352.1_Missense_Mutation_p.P156S|ITSN1_ENST00000399353.1_Missense_Mutation_p.P119S|ITSN1_ENST00000437442.2_Missense_Mutation_p.P156S|ITSN1_ENST00000399326.3_Missense_Mutation_p.P156S|ITSN1_ENST00000399349.1_Missense_Mutation_p.P156S|ITSN1_ENST00000399367.3_Missense_Mutation_p.P156S|ITSN1_ENST00000381291.4_Missense_Mutation_p.P156S|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.P156S|ITSN1_ENST00000399338.4_Missense_Mutation_p.P156S NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 156 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AGCAGCTGTGCCCCCCCTGGC 0.522000 26 73 0 0 0.008361 0 0 MYO15A 51168 broad.mit.edu 37 17 18034824 18034824 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:18034824G>A ENST00000205890.5 + 10 4523 c.4185G>A c.(4183-4185)gaG>gaA p.E1395E NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1395 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ACCTGCTTGAGAAATCCAGGA 0.627000 12 16 0 0 0.001855 0 0 RASGRP2 10235 broad.mit.edu 37 11 64496379 64496379 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:64496379C>T ENST00000377494.1 - 14 2649 c.1727G>A c.(1726-1728)aGc>aAc p.S576N RASGRP2_ENST00000394432.3_Missense_Mutation_p.S576N|RASGRP2_ENST00000354024.3_Missense_Mutation_p.S576N|RASGRP2_ENST00000377497.3_Missense_Mutation_p.S576N Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 576 platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAGAGAGAAGCTGAAGGCGCG 0.652000 4 29 0 0 0.009096 0 0 KCNIP1 30820 broad.mit.edu 37 5 170139870 170139870 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:170139870G>A ENST00000411494.1 + 2 74 c.74G>A c.(73-75)tGg>tAg p.W25* KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000434108.1_Intron Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 25 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCGCCTGGTGGTATTACCAG 0.393000 35 58 0 0 0.006230 0 0 WASH6P 653440 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 5 8 0 0 0.001984 0 0 KALRN 8997 broad.mit.edu 37 3 124390556 124390556 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:124390556G>A ENST00000360013.3 + 48 6877 c.6750G>A c.(6748-6750)gtG>gtA p.V2250V KALRN_ENST00000291478.4_Silent_p.V553V|KALRN_ENST00000428018.2_Silent_p.V521V|KALRN_ENST00000459915.1_Silent_p.V342V|KALRN_ENST00000393496.1_Silent_p.V591V NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2249 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GCACAGCTGTGATGAGGTCTC 0.557000 50 87 0 0 0.003610 0 0 RPTN 126638 broad.mit.edu 37 1 152129433 152129433 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:152129433G>A ENST00000316073.3 - 3 206 c.142C>T c.(142-144)Cca>Tca p.P48S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 48 EF-hand 1.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GGGTCATTTGGTCTCTGTTAG 0.428000 19 34 0 0 0.010504 0 0 HSPA12B 116835 broad.mit.edu 37 20 3719337 3719337 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:3719337G>A ENST00000254963.2 + 2 161 c.16G>A c.(16-18)Gag>Aag p.E6K HSPA12B_ENST00000542646.1_5'UTR NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 6 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 GGCTGTCCCGGAGATGGGCCT 0.552000 33 65 0 0 0.003271 0 0 ZNF133 7692 broad.mit.edu 37 20 18295808 18295808 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:18295808C>T ENST00000377671.3 + 7 869 c.310C>T c.(310-312)Ccc>Tcc p.P104S ZNF133_ENST00000396026.3_Missense_Mutation_p.P108S|ZNF133_ENST00000316358.4_Missense_Mutation_p.P105S|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.P105S|ZNF133_ENST00000402618.2_Missense_Mutation_p.P42S|ZNF133_ENST00000535822.1_Missense_Mutation_p.P10S|ZNF133_ENST00000538547.1_Missense_Mutation_p.P10S NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 105 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 TAATCATCCCCCCTGGATCTT 0.572000 35 76 0 0 0.003271 0 0 ADCY4 196883 broad.mit.edu 37 14 24787879 24787879 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:24787879C>T ENST00000310677.4 - 25 3175 c.3062G>A c.(3061-3063)gGa>gAa p.G1021E ADCY4_ENST00000554068.2_Missense_Mutation_p.G1021E|ADCY4_ENST00000418030.2_Missense_Mutation_p.G1021E NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 1021 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GCCAAGGACTCCTGTACTCTC 0.552000 33 42 0 0 0.003271 0 0 DIO2 1734 broad.mit.edu 37 14 80669341 80669341 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:80669341C>T ENST00000557125.1 - 2 136 c.137G>A c.(136-138)cGa>cAa p.R46Q DIO2_ENST00000557010.1_Silent_p.A171A|DIO2_ENST00000555750.1_Silent_p.A207A|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.A171A Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 0 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) CCCCCGGTATCGCCCAGCCAT 0.557000 OREG0022848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 44 0 0 0.009535 0 0 DCUN1D1 54165 broad.mit.edu 37 3 182683508 182683508 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:182683508G>A ENST00000292782.4 - 2 190 c.37C>T c.(37-39)Cgt>Tgt p.R13C DCUN1D1_ENST00000469954.1_5'UTR NM_020640.2 NP_065691.2 Q96GG9 DCNL1_HUMAN DCN1, defective in cullin neddylation 1, domain containing 1 13 UBA-like. ubiquitin ligase complex protein binding p.R13C(1) endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) ATAAACTGACGAACTTTATCC 0.308000 23 51 0 0 0.002299 0 0 HSD17B13 345275 broad.mit.edu 37 4 88235055 88235055 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:88235055G>A ENST00000328546.4 - 5 679 c.615C>T c.(613-615)gcC>gcT p.A205A HSD17B13_ENST00000302219.6_Silent_p.A169A NM_178135.3 NP_835236.2 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 205 extracellular region binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TTTTTCCCAAGGCCTGAAGTT 0.413000 9 30 0 0 0.004482 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129668810 129668810 + Missense_Mutation SNP G G A rs143076145 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:129668810G>A ENST00000358303.4 - 5 637 c.553C>T c.(553-555)Cgt>Tgt p.R185C ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R185C|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R164C|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R185C NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 185 F-box-like. cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) CTTTGAAAACGATCTAGGAAT 0.443000 50 14 0 0 0.003610 0 0 EXTL3 2137 broad.mit.edu 37 8 28574084 28574084 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:28574084C>T ENST00000220562.4 + 3 1410 c.508C>T c.(508-510)Ccc>Tcc p.P170S EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 170 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CGGCCTCCCTCCCCCGAAGGC 0.607000 18 36 0 0 0.008871 0 0 SALL1 6299 broad.mit.edu 37 16 51175596 51175596 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:51175596G>A ENST00000440970.1 - 2 677 c.246C>T c.(244-246)ctC>ctT p.L82L SALL1_ENST00000251020.4_Silent_p.L179L|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 179 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCAGGTCCCCGAGTTGAGGTA 0.617000 19 26 0 0 0.010504 0 0 GPA33 10223 broad.mit.edu 37 1 167042666 167042666 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:167042666G>A ENST00000367868.3 - 2 497 c.154C>T c.(154-156)Cga>Tga p.R52* GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 52 Ig-like V-type. integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 AGTCCCTCTCGACTGGAGGTG 0.522000 8 48 0 0 0.003080 0 0 LAMA3 3909 broad.mit.edu 37 18 21530123 21530123 + Splice_Site SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:21530123G>T ENST00000313654.9 + 72 9883 c.9642_splice c.e72+1 p.K3214_splice LAMA3_ENST00000269217.6_Splice_Site_p.K1605_splice|LAMA3_ENST00000587184.1_Splice_Site_p.K1549_splice|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Splice_Site_p.K3158_splice NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 3214 Laminin G-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGCAGGAAAGGTGTGTAGCA 0.512000 16 40 1.3612e-06 1.56774e-06 0.003163 1 0 MYH13 8735 broad.mit.edu 37 17 10267645 10267645 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10267645C>T ENST00000418404.3 - 2 366 c.204_splice c.e2+1 p.R68_splice MYH13_ENST00000570743.1_Splice_Site_p.R68_splice|MYH13_ENST00000252172.4_Splice_Site_p.R68_splice Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 68 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AACACTCACCCGGTCATCGAG 0.403000 12 17 0 0 0.002450 0 0 TCF23 150921 broad.mit.edu 37 2 27375592 27375592 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:27375592C>T ENST00000296096.5 + 3 632 c.502C>T c.(502-504)Ctg>Ttg p.L168L NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 168 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTGGAGGCCTGGGGTACTC 0.567000 14 47 0 0 0.003163 0 0 UBR3 130507 broad.mit.edu 37 2 170897478 170897478 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:170897478C>T ENST00000272793.5 + 32 4693 c.4643C>T c.(4642-4644)cCa>cTa p.P1548L UBR3_ENST00000418381.1_Missense_Mutation_p.P1548L|UBR3_ENST00000392631.1_Missense_Mutation_p.P369L Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1548 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TTAATGATGCCACAACCCTTA 0.343000 4 30 0 0 0.001168 0 0 CACNA1A 773 broad.mit.edu 37 19 13414615 13414615 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:13414615G>A ENST00000360228.5 - 16 2069 c.2070C>T c.(2068-2070)tcC>tcT p.S690S CACNA1A_ENST00000573710.2_Silent_p.S691S 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 691 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding 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) TGAAATAGATGGAGAACACCA 0.567000 61 130 0 0 0.003610 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18800840 18800840 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:18800840G>A ENST00000433979.1 + 32 4332 c.4216G>A c.(4216-4218)Gga>Aga p.G1406R PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1447R|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1406R NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1406 C2. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AGAGCTCCAAGGACATGTCTT 0.338000 4 35 0 0 0.000602 0 0 FRAS1 80144 broad.mit.edu 37 4 79334179 79334179 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:79334179G>A ENST00000264895.6 + 32 4805 c.4365G>A c.(4363-4365)gcG>gcA p.A1455A FRAS1_ENST00000325942.6_Silent_p.A1455A NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1454 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCAACATCGCGATCTTACCAC 0.512000 5 18 0 0 0.003080 0 0 SMC6 79677 broad.mit.edu 37 2 17898095 17898095 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:17898095A>G ENST00000448223.2 - 14 1528 c.1259T>C c.(1258-1260)tTt>tCt p.F420S SMC6_ENST00000402989.1_Missense_Mutation_p.F420S|SMC6_ENST00000381272.4_Missense_Mutation_p.F446S|SMC6_ENST00000351948.4_Missense_Mutation_p.F420S NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 420 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTGATTTTGAAAGGCCTTTAC 0.348000 26 66 0 0 0.003330 0 0 PARD3B 117583 broad.mit.edu 37 2 206265765 206265765 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:206265765G>A ENST00000406610.2 + 19 2866 c.2659G>A c.(2659-2661)Gga>Aga p.G887R PARD3B_ENST00000358768.2_Missense_Mutation_p.G825R|PARD3B_ENST00000349953.3_Missense_Mutation_p.G887R|PARD3B_ENST00000351153.1_Missense_Mutation_p.G818R NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 887 Lys-rich. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGATAAGGGTGGAAAGGCTGA 0.428000 7 17 0 0 0.003080 0 0 MGA 23269 broad.mit.edu 37 15 42041639 42041639 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:42041639C>T ENST00000219905.7 + 17 6015 c.5834C>T c.(5833-5835)gCc>gTc p.A1945V MGA_ENST00000570161.1_Missense_Mutation_p.A1945V|MGA_ENST00000389936.4_Missense_Mutation_p.A1906V|MGA_ENST00000545763.1_Missense_Mutation_p.A1736V|MGA_ENST00000566586.1_Missense_Mutation_p.A1736V NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1906 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GGTAGTTTTGCCTTGTTACAG 0.448000 7 34 0 0 0.001984 0 0 EPPK1 83481 broad.mit.edu 37 8 144942583 144942583 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:144942583G>A ENST00000525985.1 - 2 4910 c.4839C>T c.(4837-4839)ttC>ttT p.F1613F P58107 EPIPL_HUMAN epiplakin 1 1613 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTCGATGATGAAGCCGGTAG 0.627000 10 46 0 0 0.006214 0 0 KLHL14 57565 broad.mit.edu 37 18 30350077 30350077 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:30350077C>T ENST00000359358.4 - 2 916 c.478G>A c.(478-480)Gtc>Atc p.V160I KLHL14_ENST00000358095.4_Missense_Mutation_p.V160I|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 160 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 ATCTTGCTGACCGACAGCACC 0.617000 16 73 0 0 0.003163 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80600775 80600775 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:80600775T>A ENST00000254037.2 + 1 3354 c.199T>A c.(199-201)Tac>Aac p.Y67N ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.Y67N|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.Y67N|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.Y67N Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 67 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) GAAAAAAGAGTACTTAAATGA 0.368000 20 26 0 0 0.008871 0 0 SLC17A2 10246 broad.mit.edu 37 6 25917048 25917048 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:25917048G>A ENST00000377850.3 - 8 1319 c.795C>T c.(793-795)ccC>ccT p.P265P SLC17A2_ENST00000265425.3_Silent_p.P265P|SLC17A2_ENST00000360488.3_Silent_p.P265P O00624 NPT3_HUMAN solute carrier family 17, member 2 265 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TCGCCTTTATGGGGACAGCTC 0.488000 17 34 0 0 0.004990 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40456558 40456558 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:40456558G>A ENST00000378438.4 + 4 516 c.358G>A c.(358-360)Gaa>Aaa p.E120K ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000486558.1_Intron|ATP6AP2_ENST00000535539.1_Intron|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E44K NM_005765.2 NP_005756.2 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory protein 2 120 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity endometrium(1)|large_intestine(1)|lung(2) 4 ATTTTCTGAGGAAACTCCTGT 0.328000 24 13 0 0 0.006320 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635250 122635250 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:122635250C>T ENST00000249284.2 - 1 504 c.439G>A c.(439-441)Ggg>Agg p.G147R NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 147 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ATGTAATTCCCAATAGCTGAA 0.398000 19 65 0 0 0.006122 0 0 KAT2A 2648 broad.mit.edu 37 17 40271325 40271325 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:40271325G>A ENST00000225916.5 - 6 1064 c.1011C>T c.(1009-1011)ttC>ttT p.F337F NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 337 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TCTCCACTCGGAACTTTTCCA 0.567000 55 83 0 0 0.003610 0 0 CAPN11 11131 broad.mit.edu 37 6 44144037 44144037 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:44144037C>T ENST00000542245.1 + 9 1001 c.963C>T c.(961-963)ccC>ccT p.P321P CAPN11_ENST00000398776.1_Silent_p.P321P Q9UMQ6 CAN11_HUMAN calpain 11 321 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCGGAATCCCTGGGGCCGGA 0.597000 19 58 0 0 0.002780 0 0 COL3A1 1281 broad.mit.edu 37 2 189854874 189854874 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:189854874C>T ENST00000304636.3 + 9 913 c.744_splice c.e9+1 p.P248_splice COL3A1_ENST00000317840.5_Splice_Site_p.P248_splice NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 248 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) CCTGGACCTCCAGTGAGTCTT 0.368000 20 55 0 0 0.008871 0 0 BRCA2 675 broad.mit.edu 37 13 32937450 32937450 + Missense_Mutation SNP C C T rs80359054 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:32937450C>T ENST00000544455.1 + 18 8338 c.8111C>T c.(8110-8112)tCt>tTt p.S2704F BRCA2_ENST00000380152.3_Missense_Mutation_p.S2704F NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2704 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCTGAAACTTCTAGCAATAAA 0.383000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 10 49 0 0 0.008291 0 0 PTGS2 5743 broad.mit.edu 37 1 186645691 186645691 + Missense_Mutation SNP C C T rs148160346 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:186645691C>T ENST00000367468.5 - 7 1014 c.878G>A c.(877-879)cGg>cAg p.R293Q PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 293 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity p.R293L(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GTTGTGTTCCCGCAGCCAGAT 0.502000 10 52 0 0 0.008291 0 0 OR1A1 8383 broad.mit.edu 37 17 3118978 3118978 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:3118978G>A ENST00000304094.1 + 1 64 c.64G>A c.(64-66)Gaa>Aaa p.E22K NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TGGTCAGCAGGAACAGGAAGA 0.438000 32 45 0 0 0.002445 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158093791 158093791 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:158093791C>T ENST00000359775.5 + 9 1993 c.1104C>T c.(1102-1104)ttC>ttT p.F368F ZDHHC14_ENST00000414563.2_Intron|ZDHHC14_ENST00000341375.8_3'UTR Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 368 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GCACCAAATTCGTTTTGCAGG 0.667000 15 24 0 0 0.001882 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918534 51918534 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:51918534C>T ENST00000353836.5 - 7 1452 c.1231G>A c.(1231-1233)Gag>Aag p.E411K SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E263K|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E353K|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E328K|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E353K|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E321K|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E363K|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.E411K|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E411K NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 411 Ig-like C2-type 3. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CGAGGCAGCTCCAGGACCCCG 0.667000 16 39 0 0 0.004007 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85466851 85466851 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:85466851C>T ENST00000393217.2 + 11 2923 c.2862C>T c.(2860-2862)ttC>ttT p.F954F NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 954 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) ATTGTAATTTCCTTATCTCCC 0.373000 16 28 0 0 0.003163 0 0 SLC35F4 341880 broad.mit.edu 37 14 58056038 58056038 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:58056038G>A ENST00000556826.1 - 3 719 c.483C>T c.(481-483)ttC>ttT p.F161F SLC35F4_ENST00000339762.6_Silent_p.F197F|SLC35F4_ENST00000554729.1_Silent_p.F38F NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACCAAGTCATGAAAAATGGGC 0.358000 24 45 0 0 0.002780 0 0 INADL 10207 broad.mit.edu 37 1 62586894 62586894 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:62586894C>T ENST00000371158.2 + 38 5046 c.4932C>T c.(4930-4932)ttC>ttT p.F1644F INADL_ENST00000472512.1_3'UTR NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1644 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 ATCCCTCCTTCGCTCCTGTCA 0.507000 37 111 0 0 0.008740 0 0 CAMK2D 817 broad.mit.edu 37 4 114376973 114376973 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:114376973G>A ENST00000454265.2 - 20 2371 c.1513C>T c.(1513-1515)Ccc>Tcc p.P505S CAMK2D_ENST00000514328.1_Missense_Mutation_p.P479S|CAMK2D_ENST00000515496.1_Missense_Mutation_p.P491S|CAMK2D_ENST00000394526.2_Missense_Mutation_p.P491S|CAMK2D_ENST00000429180.1_Missense_Mutation_p.P500S|CAMK2D_ENST00000511664.1_Missense_Mutation_p.P514S|CAMK2D_ENST00000418639.2_Missense_Mutation_p.P494S|CAMK2D_ENST00000296402.5_Intron|CAMK2D_ENST00000342666.5_Missense_Mutation_p.P480S|CAMK2D_ENST00000394524.3_Intron Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 480 interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) GGAATACAGGGTGGCCTATTA 0.413000 18 36 0 0 0.010504 0 0 CCL25 6370 broad.mit.edu 37 19 8122782 8122782 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:8122782C>T ENST00000253451.4 + 5 526 c.420C>T c.(418-420)tcC>tcT p.S140S CCL25_ENST00000390669.3_Silent_p.S141S NM_001201359.1|NM_005624.3 NP_001188288.1|NP_005615.2 O15444 CCL25_HUMAN chemokine (C-C motif) ligand 25 141 chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|hormone activity NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1) 5 ggaatgtctccctcctgatat 0.483000 38 81 0 0 0.002522 0 0 FBN3 84467 broad.mit.edu 37 19 8175972 8175972 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:8175972C>A ENST00000600128.1 - 33 4594 c.4180G>T c.(4180-4182)Gac>Tac p.D1394Y FBN3_ENST00000270509.2_Missense_Mutation_p.D1394Y|FBN3_ENST00000601739.1_Missense_Mutation_p.D1394Y Q75N90 FBN3_HUMAN fibrillin 3 1394 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TCGGTGGGGTCAAAGCCCATC 0.652000 8 26 0.000157383 0.000180859 0.003080 1 0 OR4K1 79544 broad.mit.edu 37 14 20404396 20404396 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:20404396G>A ENST00000285600.4 + 1 630 c.571G>A c.(571-573)Gat>Aat p.D191N NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GGCTTGCATGGATACATATGA 0.443000 37 75 0 0 0.006999 0 0 QTRTD1 79691 broad.mit.edu 37 3 113795694 113795694 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:113795694C>T ENST00000281273.4 + 7 908 c.651C>T c.(649-651)ttC>ttT p.F217F QTRTD1_ENST00000485050.1_Silent_p.F229F|QTRTD1_ENST00000493014.1_Silent_p.F111F|QTRTD1_ENST00000479882.1_Silent_p.F94F NM_024638.3 NP_078914.1 Q9H974 QTRD1_HUMAN queuine tRNA-ribosyltransferase domain containing 1 217 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2) 10 TGGGTGGCTTCCTTCTGGATG 0.537000 30 55 0 0 0.002096 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883177 228883177 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:228883177C>T ENST00000392056.3 - 7 2439 c.2393G>A c.(2392-2394)gGt>gAt p.G798D SPHKAP_ENST00000344657.5_Missense_Mutation_p.G798D NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 798 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) CCTCACTCCACCCTTGTCTTG 0.488000 37 120 0 0 0.009718 0 0 MS4A8 83661 broad.mit.edu 37 11 60468530 60468530 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:60468530T>C ENST00000300226.2 + 2 400 c.197T>C c.(196-198)cTg>cCg p.L66P NM_031457.1 NP_113645.1 membrane-spanning 4-domains, subfamily A, member 8 CAGAAAGCTCTGAAAGAAGGC 0.547000 13 26 0 0 0.001855 0 0 SLC4A9 83697 broad.mit.edu 37 5 139747434 139747434 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:139747434G>A ENST00000230993.6 + 16 2412 c.2377G>A c.(2377-2379)Gag>Aag p.E793K SLC4A9_ENST00000506757.2_Missense_Mutation_p.E769K|SLC4A9_ENST00000506545.1_Missense_Mutation_p.E706K|SLC4A9_ENST00000432095.2_Missense_Mutation_p.E755K|SLC4A9_ENST00000507527.1_Missense_Mutation_p.E793K NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 793 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCGGAGAGAGAGCAGAGC 0.582000 11 21 0 0 0.001368 0 0 NOS1 4842 broad.mit.edu 37 12 117703283 117703283 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:117703283G>A ENST00000317775.6 - 12 2659 c.1974C>T c.(1972-1974)tcC>tcT p.S658S NOS1_ENST00000338101.4_Silent_p.S658S|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 658 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ACTCGGTGGCGGAGTGATGGT 0.602000 7 4 0 0 0.001984 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73302669 73302669 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:73302669G>A ENST00000258098.6 - 5 2182 c.1942C>T c.(1942-1944)Ccc>Tcc p.P648S RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 648 FIP-RBD. protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GGGCCCGGGGGGATCTGCAGC 0.637000 16 55 0 0 0.001882 0 0 MAGI1 9223 broad.mit.edu 37 3 65342697 65342697 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:65342697C>T ENST00000402939.2 - 23 3744 c.3745G>A c.(3745-3747)Gat>Aat p.D1249N MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1278 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TTGTGAAGATCGGGTGGGTAA 0.612000 46 71 0 0 0.003610 0 0 PLCL2 23228 broad.mit.edu 37 3 17052326 17052326 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:17052326C>T ENST00000418129.2 + 2 1575 c.1110C>T c.(1108-1110)ttC>ttT p.F370F PLCL2_ENST00000396755.2_Silent_p.F370F|PLCL2_ENST00000432376.1_Silent_p.F370F|PLCL2_ENST00000460467.1_Intron NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 496 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 AGATAGTTTTCCGCAGTGTCA 0.398000 23 44 0 0 0.002780 0 0 GALNT8 26290 broad.mit.edu 37 12 4854713 4854713 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:4854713T>C ENST00000252318.2 + 5 1316 c.979T>C c.(979-981)Ttt>Ctt p.F327L NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 327 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 AGTTGATGGGTTTAACTGGGA 0.488000 14 30 0 0 0.002450 0 0 LRTOMT 220074 broad.mit.edu 37 11 71804553 71804553 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:71804553G>A ENST00000324866.7 + 4 260 c.94G>A c.(94-96)Gag>Aag p.E32K LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000289488.2_Missense_Mutation_p.E32K|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000541614.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000423494.2_Missense_Mutation_p.E14K|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000536917.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000447974.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000538478.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000439209.1_Missense_Mutation_p.E32K NM_001271471.2 NP_001258400.1 Q96E66 LRC51_HUMAN leucine rich transmembrane and O-methyltransferase domain containing 32 cytoplasm large_intestine(2)|lung(1)|ovary(1) 4 TCTGGTAAATGAGGAGCCAAG 0.488000 6 11 0 0 0.001168 0 0 TRPC4 7223 broad.mit.edu 37 13 38320118 38320118 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:38320118C>T ENST00000379705.3 - 3 1710 c.853G>A c.(853-855)Gat>Aat p.D285N TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.D285N|TRPC4_ENST00000358477.2_Missense_Mutation_p.D285N|TRPC4_ENST00000379673.2_Missense_Mutation_p.D285N|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.D285N|TRPC4_ENST00000447043.1_Missense_Mutation_p.D285N|TRPC4_ENST00000426868.2_Missense_Mutation_p.D285N Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 285 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTTGCAAGATCATTTCCACTT 0.393000 34 139 0 0 0.003271 0 0 SLC34A2 10568 broad.mit.edu 37 4 25675988 25675988 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:25675988C>T ENST00000382051.3 + 11 1337 c.1287C>T c.(1285-1287)atC>atT p.I429I SLC34A2_ENST00000503434.1_Silent_p.I428I|SLC34A2_ENST00000504570.1_Silent_p.I428I NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 429 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TGACCTTCATCGTACAGAGCA 0.562000 T ROS1 NSCLC 12 87 0 0 0.001855 0 0 STT3A 3703 broad.mit.edu 37 11 125478009 125478009 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:125478009C>T ENST00000392708.4 + 9 945 c.786C>T c.(784-786)gtC>gtT p.V262V STT3A_ENST00000531491.1_Silent_p.V170V|STT3A_ENST00000529196.1_Silent_p.V262V NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 262 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TACAGCCTGTCCTTTCATCAG 0.423000 54 123 0 0 0.003610 0 0 DNAH2 146754 broad.mit.edu 37 17 7702555 7702555 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:7702555C>T ENST00000572933.1 + 56 10154 c.8694C>T c.(8692-8694)ccC>ccT p.P2898P DNAH2_ENST00000389173.2_Silent_p.P2898P Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2898 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGGGGATCCCTTCAGGTGAC 0.562000 9 45 0 0 0.006214 0 0 HTR3B 9177 broad.mit.edu 37 11 113803129 113803129 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:113803129C>T ENST00000260191.2 + 5 744 c.487C>T c.(487-489)Cca>Tca p.P163S HTR3B_ENST00000537778.1_Missense_Mutation_p.P152S NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 163 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) ATATGCTTTTCCATTTGATGT 0.453000 15 49 0 0 0.003163 0 0 OGDHL 55753 broad.mit.edu 37 10 50944403 50944403 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:50944403C>T ENST00000374103.4 - 21 2839 c.2754_splice c.e21+1 p.Q918_splice OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Splice_Site_p.Q861_splice|OGDHL_ENST00000432695.1_Splice_Site_p.Q709_splice NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 918 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TCAGGCACACCTGCTCCAGGC 0.617000 32 45 0 0 0.009535 0 0 ADCY8 114 broad.mit.edu 37 8 131880139 131880139 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:131880139G>A ENST00000286355.5 - 9 4255 c.2163C>T c.(2161-2163)atC>atT p.I721I ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 721 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ATAGAAGAACGATAAATGCAC 0.348000 HNSCC(32;0.087) 20 43 0 0 0.002299 0 0 SHANK2 22941 broad.mit.edu 37 11 70336483 70336483 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:70336483C>T ENST00000338508.4 - 30 2451 c.2452G>A c.(2452-2454)Gaa>Aaa p.E818K SHANK2_ENST00000449116.2_Missense_Mutation_p.E219K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E222K|SHANK2_ENST00000357171.3_Missense_Mutation_p.E229K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E221K|SHANK2_ENST00000409530.1_Missense_Mutation_p.E228K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E438K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 438 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) CCTTGGCGTTCGTACACAGAC 0.602000 25 43 0 0 0.007291 0 0 RBM46 166863 broad.mit.edu 37 4 155720234 155720234 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:155720234A>C ENST00000510397.1 + 4 1099 c.920A>C c.(919-921)aAa>aCa p.K307T RBM46_ENST00000281722.3_Missense_Mutation_p.K307T|RBM46_ENST00000514866.1_Missense_Mutation_p.K307T NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 307 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) ACACTAGCTAAACCAGTAAAT 0.383000 5 24 0 0 0.000602 0 0 EXTL3 2137 broad.mit.edu 37 8 28575536 28575536 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:28575536C>T ENST00000220562.4 + 3 2862 c.1960C>T c.(1960-1962)Ctt>Ttt p.L654F EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.L270F NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 654 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TCAGGCAGCGCTTGGAGGCAA 0.557000 23 29 0 0 0.002299 0 0 GRIA2 2891 broad.mit.edu 37 4 158262423 158262423 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:158262423T>C ENST00000296526.7 + 12 2177 c.1852T>C c.(1852-1854)Tct>Cct p.S618P GRIA2_ENST00000507898.1_Missense_Mutation_p.S571P|GRIA2_ENST00000264426.9_Missense_Mutation_p.S618P|GRIA2_ENST00000393815.2_Missense_Mutation_p.S571P|GRIA2_ENST00000449365.1_Missense_Mutation_p.S571P NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 618 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TAGATCCCTCTCTGGGCGCAT 0.398000 26 81 0 0 0.005443 0 0 EVX2 344191 broad.mit.edu 37 2 176948093 176948093 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:176948093C>T ENST00000308618.4 - 1 548 c.412G>A c.(412-414)Gaa>Aaa p.E138K NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 138 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CCATTGTTTTCCTTAAGCTGA 0.677000 3 9 0 0 0.009096 0 0 MARCH1 55016 broad.mit.edu 37 4 164506997 164506997 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:164506997G>A ENST00000503008.1 - 6 1303 c.327C>T c.(325-327)tcC>tcT p.S109S MARCH1_ENST00000339875.5_Silent_p.S92S|MARCH1_ENST00000274056.7_Silent_p.S109S|MARCH1_ENST00000514618.1_Silent_p.S365S NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 109 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGTGGAGGCAGGACTGGTGGA 0.542000 21 50 0 0 0.008871 0 0 NSUN2 54888 broad.mit.edu 37 5 6600042 6600042 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:6600042C>T ENST00000264670.6 - 19 2612 c.2301G>A c.(2299-2301)cgG>cgA p.R767R NSUN2_ENST00000506139.1_Silent_p.R732R|NSUN2_ENST00000539938.1_Silent_p.R531R NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 767 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 GGCCTGCTCACCGGGGTGGAT 0.632000 49 102 0 0 0.003610 0 0 LRRN2 10446 broad.mit.edu 37 1 204588975 204588975 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:204588975T>G ENST00000367175.1 - 1 2358 c.146A>C c.(145-147)gAg>gCg p.E49A LRRN2_ENST00000367177.3_Missense_Mutation_p.E49A|LRRN2_ENST00000367176.3_Missense_Mutation_p.E49A O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 49 LRRNT. cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) AGTGGTAGCCTCGCGGTAGGA 0.657000 7 25 0 0 0.001984 0 0 ATP10A 57194 broad.mit.edu 37 15 25966939 25966939 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:25966939G>A ENST00000356865.6 - 7 1339 c.1228C>T c.(1228-1230)Cga>Tga p.R410* NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 410 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TTCAGAGCTCGGCACTGCAGC 0.418000 22 78 0 0 0.003330 0 0 NRSN1 140767 broad.mit.edu 37 6 24146056 24146056 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:24146056G>A ENST00000378491.4 + 4 771 c.470G>A c.(469-471)cGa>cAa p.R157Q NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 157 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 TTTAAAGAACGAATCGCAGAC 0.493000 14 56 0 0 0.002450 0 0 OR4C16 219428 broad.mit.edu 37 11 55339824 55339824 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:55339824C>T ENST00000314634.3 + 1 221 c.221C>T c.(220-222)tCc>tTc p.S74F NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) CTCTCTACTTCCATAACCCCT 0.418000 68 125 0 0 0.003610 0 0 GRIP2 80852 broad.mit.edu 37 3 14565160 14565160 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:14565160G>A ENST00000273083.3 - 0 514 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CTTGTAGAGGGAGACGTCCAC 0.498000 8 18 0 0 0.004482 0 0 GPR83 10888 broad.mit.edu 37 11 94126696 94126696 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:94126696G>A ENST00000243673.2 - 3 773 c.602C>T c.(601-603)tCa>tTa p.S201L GPR83_ENST00000539203.2_Missense_Mutation_p.S159L NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 201 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATGTGGGAGTGAAAAGAACGT 0.473000 5 39 0 0 0.001168 0 0 DYSF 8291 broad.mit.edu 37 2 71827912 71827912 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:71827912G>A ENST00000258104.3 + 34 4060 c.3783G>A c.(3781-3783)acG>acA p.T1261T DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.T1279T|DYSF_ENST00000409762.1_Silent_p.T1278T|DYSF_ENST00000429174.2_Silent_p.T1261T|DYSF_ENST00000413539.2_Silent_p.T1292T|DYSF_ENST00000410041.1_Silent_p.T1279T|DYSF_ENST00000409744.1_Silent_p.T1248T|DYSF_ENST00000394120.2_Silent_p.T1262T|DYSF_ENST00000409651.1_Silent_p.T1293T|DYSF_ENST00000409582.3_Silent_p.T1278T|DYSF_ENST00000409366.1_Silent_p.T1262T NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1261 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TCCCACTGACGAGGGGCAGCC 0.602000 44 100 0 0 0.003214 0 0 GRM3 2913 broad.mit.edu 37 7 86415780 86415780 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:86415780G>A ENST00000361669.2 + 3 1771 c.672G>A c.(670-672)gaG>gaA p.E224E GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.E224E|GRM3_ENST00000394720.2_Silent_p.E222E|GRM3_ENST00000536043.1_Silent_p.E96E|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 224 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ATTACGGGGAGACAGGGATCG 0.607000 38 19 0 0 0.005524 0 0 ZNF420 147923 broad.mit.edu 37 19 37618294 37618294 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:37618294C>T ENST00000337995.3 + 5 616 c.401C>T c.(400-402)tCt>tTt p.S134F ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.S134F NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGATGTCATTCTACTGAGAAA 0.368000 11 39 0 0 0.001368 0 0 C1orf168 199920 broad.mit.edu 37 1 57258448 57258448 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:57258448C>T ENST00000343433.6 - 2 118 c.38G>A c.(37-39)cGa>cAa p.R13Q C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 13 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 AAATTTGGCTCGAAGTTCCTT 0.388000 74 169 0 0 0.003610 0 0 VAMP7 6845 broad.mit.edu 37 X 155119253 155119253 + Nonsense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:155119253A>T ENST00000286448.6 + 2 289 c.124A>T c.(124-126)Aaa>Taa p.K42* VAMP7_ENST00000460621.1_Intron|VAMP7_ENST00000262640.6_Nonsense_Mutation_p.K42*|VAMP7_ENST00000479687.1_3'UTR NM_001145149.2|NM_005638.5 NP_001138621.1|NP_005629.1 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 42 Longin. calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGAAAATAACAAACTAACGTA 0.443000 34 52 0 0 0.004289 0 0 FNDC9 408263 broad.mit.edu 37 5 156770210 156770210 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:156770210G>A ENST00000312349.4 - 2 522 c.335C>T c.(334-336)tCc>tTc p.S112F CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 112 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CACCCAAAGGGAGATCTGGGG 0.587000 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 60 0 0 0.007413 0 0 INPPL1 3636 broad.mit.edu 37 11 71945395 71945395 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:71945395C>T ENST00000541756.1 + 20 2487 c.1557C>T c.(1555-1557)agC>agT p.S519S INPPL1_ENST00000538751.1_Silent_p.S519S|INPPL1_ENST00000298229.2_Silent_p.S761S O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 761 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AGACAGCCAGCCGCACCAAGT 0.567000 11 46 0 0 0.001368 0 0 CDH24 64403 broad.mit.edu 37 14 23524311 23524311 + Silent SNP G G A rs140243541 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:23524311G>A ENST00000397359.3 - 3 712 c.453C>T c.(451-453)ccC>ccT p.P151P CDH24_ENST00000267383.5_Silent_p.P151P|CDH24_ENST00000554034.1_Silent_p.P151P|CDH24_ENST00000487137.2_Silent_p.P151P NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 151 Cadherin 2. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) AGGGCCCAAGGGGAAAAATGG 0.592000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 88 0 0 0.003610 0 0 BCL9L 283149 broad.mit.edu 37 11 118770898 118770898 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:118770898G>A ENST00000334801.3 - 7 4098 c.3134C>T c.(3133-3135)cCg>cTg p.P1045L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1045 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCCGCTAGGCGGGAGGGTACC 0.627000 13 25 0 0 0.003163 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26084146 26084146 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:26084146G>A ENST00000478176.1 - 0 311 NR_003678.1 TCAGTTTAAGGATCTGCTGTT 0.313000 5 21 0 0 0.001168 0 0 TNXB 7148 broad.mit.edu 37 6 32065010 32065010 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:32065010C>T ENST00000375244.3 - 3 821 c.620G>A c.(619-621)gGc>gAc p.G207D TNXB_ENST00000479795.1_Missense_Mutation_p.G207D|TNXB_ENST00000375247.2_Missense_Mutation_p.G207D P22105 TENX_HUMAN tenascin XB 207 EGF-like 2. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCCAGTGTAGCCGGGAAAGCA 0.667000 50 97 0 0 0.003610 0 0 FLG2 388698 broad.mit.edu 37 1 152329028 152329028 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:152329028C>T ENST00000388718.5 - 3 1306 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 412 Ser-rich. calcium ion binding|structural molecule activity 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) TTGGAAAATTCATTTGAACTA 0.428000 34 47 0 0 0.002836 0 0 CEP250 11190 broad.mit.edu 37 20 34091040 34091040 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:34091040G>A ENST00000397527.1 + 30 5563 c.4843G>A c.(4843-4845)Gag>Aag p.E1615K CEP250_ENST00000342580.4_Missense_Mutation_p.E1559K NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1615 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) CCATGACCTGGAGAGCCACAG 0.577000 31 30 0 0 0.009535 0 0 MMP8 4317 broad.mit.edu 37 11 102587050 102587050 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:102587050T>C ENST00000236826.3 - 6 983 c.885A>G c.(883-885)atA>atG p.I295M NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 295 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) TAAAGAAAAGTATTTCTCCAC 0.393000 19 97 0 0 0.006122 0 0 EGFL8 80864 broad.mit.edu 37 6 32135730 32135730 + Silent SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:32135730A>C ENST00000395512.1 + 9 984 c.879A>C c.(877-879)cgA>cgC p.R293R PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000489721.1_3'UTR|EGFL8_ENST00000333845.6_Silent_p.R293R Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 293 extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 TCAATCATCGATAAGAAGCCT 0.542000 106 275 0 0 0.003610 0 0 FLG2 388698 broad.mit.edu 37 1 152329534 152329534 + Missense_Mutation SNP C C T rs139597182 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:152329534C>T ENST00000388718.5 - 3 800 c.728G>A c.(727-729)gGa>gAa p.G243E FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 243 Ser-rich. calcium ion binding|structural molecule activity 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) AGTCTCCAATCCACATGACAG 0.468000 37 110 0 0 0.004289 0 0 RP1 6101 broad.mit.edu 37 8 55539327 55539327 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:55539327G>A ENST00000220676.1 + 4 3033 c.2885G>A c.(2884-2886)gGa>gAa p.G962E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 962 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACAAATTCTGGAAAAATAAGT 0.313000 20 44 0 0 0.010504 0 0 PHKA2 5256 broad.mit.edu 37 X 18923922 18923922 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:18923922G>A ENST00000379942.4 - 26 3527 c.2862C>T c.(2860-2862)ctC>ctT p.L954L NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 954 NL -> I (in GSD9A; type 1). glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TATGGTGCAGGAGATTTTTCA 0.443000 62 39 0 0 0.003610 0 0 CLGN 1047 broad.mit.edu 37 4 141327157 141327157 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:141327157G>A ENST00000325617.5 - 5 798 c.358C>T c.(358-360)Cat>Tat p.H120Y CLGN_ENST00000537281.1_Missense_Mutation_p.H120Y|CLGN_ENST00000414773.1_Missense_Mutation_p.H120Y NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 120 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) GATATTGCATGATGCTTTGCT 0.338000 10 32 0 0 0.008291 0 0 ABCA1 19 broad.mit.edu 37 9 107618170 107618170 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:107618170G>A ENST00000423487.2 - 8 1216 c.920C>T c.(919-921)tCc>tTc p.S307F ABCA1_ENST00000374736.3_Intron O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1666 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGGAAACAGGGAAACACTCAC 0.438000 12 16 0 0 0.002450 0 0 MAP2 4133 broad.mit.edu 37 2 210560546 210560546 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:210560546G>A ENST00000360351.4 + 7 4158 c.3652G>A c.(3652-3654)Gca>Aca p.A1218T MAP2_ENST00000447185.1_Missense_Mutation_p.A1214T|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1218 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TTCTGATGTTGCAGAGCCATT 0.458000 11 28 0 0 0.008291 0 0 COL6A3 1293 broad.mit.edu 37 2 238283530 238283530 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:238283530G>A ENST00000295550.4 - 8 3656 c.3204C>T c.(3202-3204)gcC>gcT p.A1068A COL6A3_ENST00000472056.1_Silent_p.A461A|COL6A3_ENST00000347401.3_Silent_p.A867A|COL6A3_ENST00000392003.2_Silent_p.A661A|COL6A3_ENST00000392004.3_Silent_p.A862A|COL6A3_ENST00000346358.4_Silent_p.A868A|COL6A3_ENST00000409809.1_Silent_p.A862A|COL6A3_ENST00000353578.4_Silent_p.A862A NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1068 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACTGCACCACGGCCACGCGGA 0.607000 13 33 0 0 0.002450 0 0 LOXL2 4017 broad.mit.edu 37 8 23186040 23186040 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:23186040C>T ENST00000389131.3 - 6 1374 c.1005G>A c.(1003-1005)ggG>ggA p.G335G NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 335 SRCR 3. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CGCGGCCCTCCCCGATGTAGG 0.622000 17 56 0 0 0.004990 0 0 ENTPD3 956 broad.mit.edu 37 3 40457387 40457387 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:40457387G>A ENST00000301825.3 + 7 772 c.654G>A c.(652-654)ctG>ctA p.L218L ENTPD3_ENST00000456402.1_Silent_p.L218L|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.L218L NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 218 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) CGGGTGCCCTGGACTTAGGTG 0.542000 10 35 0 0 0.000978 0 0 MEP1A 4224 broad.mit.edu 37 6 46806801 46806801 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:46806801C>T ENST00000230588.4 + 14 2178 c.2169C>T c.(2167-2169)atC>atT p.I723I NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 723 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GCATGGTGATCGGAGGCACGG 0.587000 41 112 0 0 0.006999 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33561138 33561138 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:33561138C>T ENST00000504830.1 - 20 4454 c.4119G>A c.(4117-4119)tgG>tgA p.W1373* ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W1288* NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1373 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TTACCTTGCTCCAGTTTCCCA 0.507000 HNSCC(64;0.19) 55 85 0 0 0.003610 0 0 KCNQ4 9132 broad.mit.edu 37 1 41250026 41250026 + Silent SNP C C T rs4500305 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:41250026C>T ENST00000347132.5 + 1 343 c.261C>T c.(259-261)gtC>gtT p.V87V KCNQ4_ENST00000509682.2_Silent_p.V87V NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 87 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) AGAACTGGGTCTACAACGTGC 0.736000 12 42 0 0 0.001855 0 0 CACNA1S 779 broad.mit.edu 37 1 201054112 201054112 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:201054112C>T ENST00000362061.3 - 9 1424 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K CACNA1S_ENST00000367338.3_Missense_Mutation_p.E400K NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 400 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTGCAATTTCATACAGGCTC 0.547000 14 64 0 0 0.003163 0 0 SETD5 55209 broad.mit.edu 37 3 9512293 9512293 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:9512293C>T ENST00000402466.1 + 20 3349 c.2581C>T c.(2581-2583)Cca>Tca p.P861S SETD5_ENST00000406341.1_Missense_Mutation_p.P959S|SETD5_ENST00000402198.1_Missense_Mutation_p.P959S|SETD5_ENST00000302463.6_Missense_Mutation_p.P861S|SETD5_ENST00000407969.1_Missense_Mutation_p.P978S Q9C0A6 SETD5_HUMAN SET domain containing 5 959 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GACTGGTTTCCCAAGCAGAAG 0.512000 46 96 0 0 0.003610 0 0 ABCA9 10350 broad.mit.edu 37 17 67017945 67017945 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:67017945G>A ENST00000340001.4 - 18 2550 c.2339C>T c.(2338-2340)tCc>tTc p.S780F ABCA9_ENST00000370732.2_Missense_Mutation_p.S780F|ABCA9_ENST00000453985.2_Missense_Mutation_p.S780F NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 780 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) AGTTGTTATGGAAACACCATA 0.299000 29 55 0 0 0.002096 0 0 PLD5 200150 broad.mit.edu 37 1 242253296 242253296 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:242253296C>T ENST00000442594.2 - 11 1704 c.1195G>A c.(1195-1197)Gaa>Aaa p.E399K PLD5_ENST00000536534.1_Missense_Mutation_p.E491K|PLD5_ENST00000427495.1_Missense_Mutation_p.E429K NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 491 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CAGTCCCTTTCAAACACATCT 0.458000 56 79 0 0 0.003610 0 0 HECW1 23072 broad.mit.edu 37 7 43580787 43580787 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:43580787G>A ENST00000395891.1 + 25 4650 c.4045G>A c.(4045-4047)Ggt>Agt p.G1349S HECW1_ENST00000453890.1_Missense_Mutation_p.G1315S NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1349 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TCGCATCCTGGGTCTGGCTCT 0.448000 40 73 0 0 0.009718 0 0 LRP4 4038 broad.mit.edu 37 11 46918471 46918471 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:46918471C>T ENST00000378623.1 - 8 1113 c.871G>A c.(871-873)Ggg>Agg p.G291R NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 291 LDL-receptor class A 7. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TCGTCCTCCCCATCACAGCGC 0.572000 27 76 0 0 0.006320 0 0 PCID2 55795 broad.mit.edu 37 13 113852568 113852568 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:113852568G>A ENST00000375457.2 - 3 727 c.131C>T c.(130-132)cCa>cTa p.P44L PCID2_ENST00000375459.1_Missense_Mutation_p.P44L|PCID2_ENST00000246505.5_Missense_Mutation_p.P46L|PCID2_ENST00000337344.4_Missense_Mutation_p.P46L|PCID2_ENST00000375477.1_Missense_Mutation_p.P46L|PCID2_ENST00000351317.3_Missense_Mutation_p.P46L|PCID2_ENST00000375479.2_Missense_Mutation_p.P46L NM_001258213.1 NP_001245142.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 46 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) CTTCTCCTCTGGAGAGGCCAT 0.358000 60 85 0 0 0.003610 0 0 CLCN4 1183 broad.mit.edu 37 X 10176261 10176261 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:10176261C>T ENST00000380833.4 + 9 1411 c.1020C>T c.(1018-1020)gtC>gtT p.V340V CLCN4_ENST00000421085.2_Silent_p.V246V|CLCN4_ENST00000380829.1_Intron NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 340 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGCTTGGGGTCTTCGGGGGCT 0.577000 62 39 0 0 0.003610 0 0 TTC8 123016 broad.mit.edu 37 14 89305844 89305844 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:89305844G>C ENST00000338104.6 + 2 215 c.163G>C c.(163-165)Gat>Cat p.D55H TTC8_ENST00000346301.4_Missense_Mutation_p.D55H|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000380656.2_Missense_Mutation_p.D65H|TTC8_ENST00000345383.5_Missense_Mutation_p.D55H Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 65 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GGTATACATAGATGAAATTGA 0.328000 20 40 0 0 0.010504 0 0 GTF2F1 2962 broad.mit.edu 37 19 6389464 6389464 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:6389464G>A ENST00000394456.5 - 4 781 c.317C>T c.(316-318)tCa>tTa p.S106L GTF2F1_ENST00000429701.2_Missense_Mutation_p.S78L|CTB-180A7.6_ENST00000599584.1_RNA NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 106 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 CTTCCTGCCTGATTTGCCGTT 0.612000 44 77 0 0 0.002852 0 0 SLC45A4 57210 broad.mit.edu 37 8 142231803 142231803 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:142231803G>A ENST00000519067.1 - 2 453 c.150C>T c.(148-150)ttC>ttT p.F50F SLC45A4_ENST00000024061.3_Silent_p.F50F|SLC45A4_ENST00000517878.1_Silent_p.F101F|SLC45A4_ENST00000433583.2_Silent_p.F43F Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 101 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGAGAGGTGTGAAGATGAGGC 0.652000 33 54 0 0 0.004878 0 0 CAMTA1 23261 broad.mit.edu 37 1 7725010 7725010 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:7725010G>A ENST00000303635.7 + 9 2610 c.2403G>A c.(2401-2403)acG>acA p.T801T CAMTA1_ENST00000439411.2_Silent_p.T801T NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 801 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGGACAGCACGGCGCTCTCAC 0.652000 T WWTR1 epitheliod hemangioendothelioma 95 178 0 0 0.003610 0 0 AGMAT 79814 broad.mit.edu 37 1 15909809 15909809 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:15909809G>A ENST00000375826.3 - 2 496 c.354C>T c.(352-354)tcC>tcT p.S118S DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) 118 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) CAACCATGAGGGACTGGAAGG 0.527000 16 41 0 0 0.004990 0 0 MYH1 4619 broad.mit.edu 37 17 10400388 10400388 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10400388C>T ENST00000226207.5 - 33 4748 c.4654G>A c.(4654-4656)Gag>Aag p.E1552K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1552 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ATGCTTACCTCTGCCTCCTCT 0.368000 6 39 0 0 0.003080 0 0 IGHV3-48 28424 broad.mit.edu 37 14 106994065 106994065 + RNA SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:106994065C>A ENST00000390624.2 - 0 178 AGGGACCCCCCAGGCTGTACC 0.582000 44 90 3.48956e-15 4.04006e-15 0.003610 1 0 CYP4A11 1579 broad.mit.edu 37 1 47395896 47395896 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:47395896G>A ENST00000310638.4 - 12 1482 c.1451C>T c.(1450-1452)cCc>cTc p.P484L CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.P485L NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 484 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GATCCTGGTGGGATCAGGCAG 0.562000 42 58 0 0 0.009718 0 0 ITPR2 3709 broad.mit.edu 37 12 26784916 26784916 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:26784916G>A ENST00000381340.3 - 22 3233 c.2817C>T c.(2815-2817)ttC>ttT p.F939F RP11-666F17.1_ENST00000414098.2_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 939 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CGCTCATGGGGAAGATGGAGC 0.547000 37 115 0 0 0.009718 0 0 C17orf70 80233 broad.mit.edu 37 17 79517625 79517625 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:79517625C>T ENST00000537152.1 - 3 967 c.442G>A c.(442-444)Gag>Aag p.E148K C17orf70_ENST00000327787.8_Missense_Mutation_p.E299K NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 299 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) AGAAAATTCTCTGCAGCTTCT 0.582000 14 56 0 0 0.004007 0 0 CLVS2 134829 broad.mit.edu 37 6 123369853 123369853 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:123369853C>T ENST00000275162.4 + 4 1986 c.651C>T c.(649-651)ttC>ttT p.F217F CLVS2_ENST00000368438.1_Silent_p.F71F NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 217 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TCCGGCCTTTCCTGAAGGAGA 0.393000 56 114 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82579685 82579685 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:82579685C>T ENST00000423517.2 - 6 10556 c.10219G>A c.(10219-10221)Gaa>Aaa p.E3407K PCLO_ENST00000333891.8_Missense_Mutation_p.E3407K|PCLO_ENST00000437081.1_Missense_Mutation_p.E127K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3338 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTTGTTTTTCCTCTTTCACA 0.418000 55 35 0 0 0.003610 0 0 TF 7018 broad.mit.edu 37 3 133495981 133495981 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:133495981C>G ENST00000402696.3 + 16 2446 c.1961C>G c.(1960-1962)aCa>aGa p.T654R TF_ENST00000264998.3_Missense_Mutation_p.T527R NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 654 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AGAGATGACACAGTATGTTTG 0.428000 23 34 0 0 0.002780 0 0 COL6A6 131873 broad.mit.edu 37 3 130282241 130282241 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:130282241C>T ENST00000358511.6 + 2 425 c.394C>T c.(394-396)Ccc>Tcc p.P132S COL6A6_ENST00000453409.2_Missense_Mutation_p.P132S NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 132 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GAAACAGTTTCCCCCAATTCT 0.502000 12 28 0 0 0.001368 0 0 RETNLB 84666 broad.mit.edu 37 3 108475427 108475427 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:108475427G>A ENST00000295755.6 - 2 334 c.136C>T c.(136-138)Ccc>Tcc p.P46S RETNLB_ENST00000482939.1_5'UTR NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 46 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 ATAGGAGAGGGACTGTACTCT 0.512000 24 46 0 0 0.004656 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752678 62752678 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:62752678G>A ENST00000331425.6 - 0 757 NR_003952.1 TCTCCAGTATGAATTCTCTTA 0.428000 6 26 0 0 0.001984 0 0 MGST3 4259 broad.mit.edu 37 1 165619140 165619140 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:165619140T>C ENST00000367889.3 + 2 496 c.56T>C c.(55-57)tTt>tCt p.F19S MGST3_ENST00000367883.1_Missense_Mutation_p.F33S|MGST3_ENST00000367884.1_Missense_Mutation_p.F19S|MGST3_ENST00000367885.1_Missense_Mutation_p.F33S|MGST3_ENST00000367888.4_Missense_Mutation_p.F19S|MGST3_ENST00000404549.1_Missense_Mutation_p.F33S|MGST3_ENST00000367886.2_Missense_Mutation_p.F33S NM_004528.3 NP_004519.1 O14880 MGST3_HUMAN microsomal glutathione S-transferase 3 19 leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glutathione peroxidase activity|glutathione transferase activity endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 6 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Glutathione(DB00143) GCTGCCAGCTTTATAATGGTG 0.517000 12 47 0 0 0.001855 0 0 GPR98 84059 broad.mit.edu 37 5 90101267 90101267 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:90101267C>T ENST00000405460.2 + 72 14924 c.14828C>T c.(14827-14829)cCa>cTa p.P4943L GPR98_ENST00000425867.2_Missense_Mutation_p.P604L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4943 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) AACATGACCCCAACACTGGGT 0.448000 15 51 0 0 0.004007 0 0 CTIF 9811 broad.mit.edu 37 18 46284741 46284741 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:46284741T>A ENST00000256413.3 + 8 1331 c.1036T>A c.(1036-1038)Tcc>Acc p.S346T CTIF_ENST00000382998.4_Missense_Mutation_p.S346T NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 346 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 GCTCCAGTCTTCCAAAGACAG 0.522000 111 195 0 0 0.003610 0 0 PKD1L1 168507 broad.mit.edu 37 7 47969116 47969116 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:47969116C>T ENST00000289672.2 - 7 795 c.745G>A c.(745-747)Ggc>Agc p.G249S NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 249 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGCGGAAGGCCGTGGGAGCTG 0.622000 8 31 0 0 0.003080 0 0 CELA3A 10136 broad.mit.edu 37 1 22333383 22333383 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:22333383C>T ENST00000290122.3 + 5 394 c.375C>T c.(373-375)gcC>gcT p.A125A NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ATGACATCGCCCTCATCAAGC 0.622000 24 63 0 0 0.005443 0 0 FAT4 79633 broad.mit.edu 37 4 126336719 126336719 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:126336719G>A ENST00000394329.3 + 5 6614 c.6601G>A c.(6601-6603)Gaa>Aaa p.E2201K FAT4_ENST00000335110.5_Missense_Mutation_p.E499K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2201 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TACCAATCAGGAATTTCGGAT 0.433000 20 71 0 0 0.001882 0 0 KIAA1109 84162 broad.mit.edu 37 4 123237932 123237932 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:123237932G>A ENST00000264501.4 + 62 10958 c.10585G>A c.(10585-10587)Gga>Aga p.G3529R KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3529R|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3529R Q2LD37 K1109_HUMAN KIAA1109 3529 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TAGCCAGCCGGGAGAACTTAG 0.408000 10 56 0 0 0.006214 0 0 ETNPPL 64850 broad.mit.edu 37 4 109680978 109680978 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:109680978T>C ENST00000296486.3 - 3 416 c.262A>G c.(262-264)Att>Gtt p.I88V ETNPPL_ENST00000512646.1_Missense_Mutation_p.I30V|ETNPPL_ENST00000510706.1_Missense_Mutation_p.I48V|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I82V NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase TACTCAACAATGTTGTCGTGG 0.443000 16 28 0 0 0.004990 0 0 TCF23 150921 broad.mit.edu 37 2 27372124 27372124 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:27372124G>C ENST00000296096.5 + 1 253 c.123G>C c.(121-123)agG>agC p.R41S TCF23_ENST00000407815.3_3'UTR NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 41 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCAGGACAAGGCAGGACCCGT 0.662000 3 6 0 0 0.004672 0 0 ACSL5 51703 broad.mit.edu 37 10 114164293 114164293 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:114164293G>A ENST00000393081.1 + 4 597 c.290G>A c.(289-291)aGa>aAa p.R97K ACSL5_ENST00000354655.4_Missense_Mutation_p.R97K|ACSL5_ENST00000354273.4_Missense_Mutation_p.R97K|ACSL5_ENST00000433418.1_Missense_Mutation_p.R97K|ACSL5_ENST00000356116.1_Missense_Mutation_p.R153K|ACSL5_ENST00000479936.1_3'UTR NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 97 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TTGGGATATAGAAAACCAAAC 0.368000 8 11 0 0 0.006214 0 0 CTDNEP1 23399 broad.mit.edu 37 17 7150120 7150120 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:7150120A>C ENST00000573600.1 - 5 771 c.350T>G c.(349-351)tTc>tGc p.F117C CTDNEP1_ENST00000572043.1_5'UTR|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.F117C|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.F117C O95476 CNEP1_HUMAN CTD nuclear envelope phosphatase 1 117 FCP1 homology. nuclear envelope organization|protein dephosphorylation endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein serine/threonine phosphatase activity central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 15 CACTTCCAGGAAGAAATCCAC 0.483000 55 189 0 0 0.003610 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271574 26271574 + Silent SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:26271574A>C ENST00000305910.3 - 1 38 c.39T>G c.(37-39)ggT>ggG p.G13G NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 13 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 GCGCTTTGCCACCGGTGGACT 0.607000 13 38 0 0 0.001855 0 0 A2ML1 144568 broad.mit.edu 37 12 8976444 8976444 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:8976444G>A ENST00000299698.7 + 3 555 c.375G>A c.(373-375)caG>caA p.Q125Q A2ML1-AS1_ENST00000537288.1_RNA NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 0 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CCTTTGTACAGACTGACAAAC 0.502000 25 49 0 0 0.008361 0 0 GHDC 84514 broad.mit.edu 37 17 40343101 40343101 + Silent SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:40343101A>T ENST00000301671.8 - 5 1458 c.1017T>A c.(1015-1017)ctT>ctA p.L339L GHDC_ENST00000414034.3_Silent_p.L339L|GHDC_ENST00000428494.2_Silent_p.L300L|GHDC_ENST00000593209.1_Silent_p.L339L|GHDC_ENST00000587427.1_Silent_p.L339L|GHDC_ENST00000436923.2_Silent_p.L339L Q8N2G8 GHDC_HUMAN GH3 domain containing 339 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CCTCGGCCAAAAGGAGGGTGG 0.662000 12 57 0 0 0.000978 0 0 CCDC150 284992 broad.mit.edu 37 2 197530331 197530331 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:197530331C>T ENST00000389175.4 + 6 821 c.686C>T c.(685-687)tCt>tTt p.S229F CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Intron NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 229 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CTTAGGGAATCTTTAGAGAAA 0.403000 4 16 0 0 0.000602 0 0 SEMA5B 54437 broad.mit.edu 37 3 122630379 122630379 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:122630379A>T ENST00000195173.4 - 21 3347 c.3044T>A c.(3043-3045)aTc>aAc p.I1015N SEMA5B_ENST00000357599.3_Missense_Mutation_p.I1017N|SEMA5B_ENST00000451055.2_Missense_Mutation_p.I1071N Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 1017 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGCTGGCAGGATGACTGCAGG 0.647000 7 29 0 0 0.001984 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 61 0 0 0.009096 0 0 STX19 415117 broad.mit.edu 37 3 93733721 93733721 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:93733721C>T ENST00000315099.2 - 2 649 c.393G>A c.(391-393)agG>agA p.R131R ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000486562.1_Intron NM_001001850.2 NP_001001850.1 Q8N4C7 STX19_HUMAN syntaxin 19 131 intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity kidney(2)|large_intestine(2)|lung(4)|prostate(1) 9 ATTTAAGTATCCTTGTGACCA 0.353000 37 95 0 0 0.005524 0 0 DSP 1832 broad.mit.edu 37 6 7568089 7568089 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:7568089G>A ENST00000379802.3 + 10 1557 c.1216G>A c.(1216-1218)Gac>Aac p.D406N DSP_ENST00000418664.2_Missense_Mutation_p.D406N NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 406 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GTACCCCTGCGACAAGAACAT 0.532000 11 27 0 0 0.000978 0 0 UNC79 57578 broad.mit.edu 37 14 94083628 94083628 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:94083628C>T ENST00000553484.1 + 29 4422 c.4268C>T c.(4267-4269)gCc>gTc p.A1423V UNC79_ENST00000256339.4_Missense_Mutation_p.A1224V|UNC79_ENST00000393151.2_Missense_Mutation_p.A1401V|UNC79_ENST00000555664.1_Missense_Mutation_p.A1401V Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1401 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGGTTGAAGGCCTTGCTTGTC 0.498000 30 70 0 0 0.002096 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069795 114069795 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:114069795G>A ENST00000462705.1 - 11 1732 c.911C>T c.(910-912)tCg>tTg p.S304L ZBTB20_ENST00000481632.1_Missense_Mutation_p.S304L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S304L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S304L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S304L|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S304L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S377L NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GCTGACGCCCGAGTCGAAGCT 0.647000 12 36 0 0 0.001368 0 0 COL6A3 1293 broad.mit.edu 37 2 238283548 238283548 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:238283548C>T ENST00000295550.4 - 8 3638 c.3186G>A c.(3184-3186)caG>caA p.Q1062Q COL6A3_ENST00000472056.1_Silent_p.Q455Q|COL6A3_ENST00000347401.3_Silent_p.Q861Q|COL6A3_ENST00000392003.2_Silent_p.Q655Q|COL6A3_ENST00000392004.3_Silent_p.Q856Q|COL6A3_ENST00000346358.4_Silent_p.Q862Q|COL6A3_ENST00000409809.1_Silent_p.Q856Q|COL6A3_ENST00000353578.4_Silent_p.Q856Q NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1062 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGACCCGGTCCTGGCCCACAT 0.587000 15 29 0 0 0.004990 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529823 5529823 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:5529823C>T ENST00000311659.4 - 2 1113 c.966G>A c.(964-966)ggG>ggA p.G322G HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 322 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCCTGATCCCCATCCTGCC 0.512000 23 38 0 0 0.001882 0 0 LUZP2 338645 broad.mit.edu 37 11 24750779 24750779 + Missense_Mutation SNP C C T rs150458536 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:24750779C>T ENST00000336930.6 + 2 193 c.127C>T c.(127-129)Cgt>Tgt p.R43C LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR Q86TE4 LUZP2_HUMAN leucine zipper protein 2 43 extracellular region p.R43C(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CACCATTCTTCGTCAGCTGAC 0.433000 30 48 0 0 0.008361 0 0 CA3 761 broad.mit.edu 37 8 86352060 86352060 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:86352060G>A ENST00000285381.2 + 2 237 c.154G>A c.(154-156)Gat>Aat p.D52N NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 52 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGTGTCTTATGATGGTGGCTC 0.463000 16 46 0 0 0.004007 0 0 TSKS 60385 broad.mit.edu 37 19 50248617 50248617 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:50248617C>T ENST00000246801.3 - 7 1111 c.1029G>A c.(1027-1029)caG>caA p.Q343Q TSKS_ENST00000358830.3_Silent_p.Q143Q NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 343 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTCCTCCTGATGCCACC 0.701000 5 5 0 0 0.000602 0 0 MUC5B 727897 broad.mit.edu 37 11 1271167 1271167 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:1271167C>T ENST00000447027.1 + 31 13124 c.13066C>T c.(13066-13068)Ccc>Tcc p.P4356S MUC5B_ENST00000529681.1_Missense_Mutation_p.P4353S Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4353 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACAATCCACCCCTCCTCCAC 0.647000 19 47 0 0 0.008871 0 0 CYP2C8 1558 broad.mit.edu 37 10 96818118 96818118 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:96818118C>T ENST00000371270.3 - 5 887 c.793G>A c.(793-795)Gat>Aat p.D265N CYP2C8_ENST00000535898.1_Missense_Mutation_p.D163N|CYP2C8_ENST00000539050.1_Missense_Mutation_p.D179N 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 8 265 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 p.D265N(1) 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) AGGAAGCAATCGATAAAGTCC 0.358000 21 29 0 0 0.002780 0 0 C6orf58 352999 broad.mit.edu 37 6 127899834 127899834 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:127899834G>A ENST00000329722.7 + 2 317 c.305G>A c.(304-306)aGa>aAa p.R102K C6orf58_ENST00000498112.1_3'UTR NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 102 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) CCTCCAGGCAGATTAGCTGAT 0.418000 37 114 0 0 0.008740 0 0 OR11H6 122748 broad.mit.edu 37 14 20692283 20692283 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:20692283G>A ENST00000315519.2 + 1 493 c.415G>A c.(415-417)Gat>Aat p.D139N NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TATGGCTTATGATCGGTACCT 0.423000 28 93 0 0 0.009535 0 0 ATP10B 23120 broad.mit.edu 37 5 160059330 160059330 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:160059330C>T ENST00000327245.5 - 13 2272 c.1426G>A c.(1426-1428)Gag>Aag p.E476K CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 476 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGGTCCACTCTTCACCATCT 0.537000 22 79 0 0 0.002780 0 0 MCM4 4173 broad.mit.edu 37 8 48885587 48885587 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:48885587C>T ENST00000262105.2 + 13 2308 c.2099C>T c.(2098-2100)cCg>cTg p.P700L MCM4_ENST00000523944.1_Missense_Mutation_p.P700L NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 700 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) ACCATCATGCCGCGGCTAAGT 0.552000 7 32 0 0 0.001984 0 0 ATP13A4 84239 broad.mit.edu 37 3 193176837 193176837 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:193176837G>A ENST00000295548.3 - 14 1706 c.1707C>T c.(1705-1707)agC>agT p.S569S ATP13A4_ENST00000342695.4_Intron|ATP13A4_ENST00000392443.3_Intron Q4VNC1 AT134_HUMAN ATPase type 13A4 0 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CATTGAAGAAGCTTCTCAGAT 0.453000 25 81 0 0 0.006320 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458068 20458068 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:20458068G>A ENST00000426804.1 - 1 3718 c.3234C>T c.(3232-3234)ttC>ttT p.F1078F NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) AGAGTGTGTCGAAGGTGACGG 0.662000 7 38 0 0 0.003080 0 0 GPR98 84059 broad.mit.edu 37 5 90101266 90101266 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:90101266C>T ENST00000405460.2 + 72 14923 c.14827C>T c.(14827-14829)Cca>Tca p.P4943S GPR98_ENST00000425867.2_Missense_Mutation_p.P604S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4943 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) CAACATGACCCCAACACTGGG 0.443000 14 53 0 0 0.003163 0 0 ZFPM2 23414 broad.mit.edu 37 8 106573624 106573624 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:106573624G>A ENST00000407775.2 + 4 585 c.335G>A c.(334-336)cGa>cAa p.R112Q ZFPM2_ENST00000517361.1_5'UTR|ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 112 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.R112Q(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GATGGGGAACGAAAAATTCAG 0.438000 21 32 0 0 0.002299 0 0 CD52 1043 broad.mit.edu 37 1 26644527 26644527 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:26644527C>T ENST00000374213.2 + 1 80 c.19C>T c.(19-21)Ctc>Ttc p.L7F CD52_ENST00000492808.1_3'UTR|UBXN11_ENST00000374217.2_Intron|UBXN11_ENST00000374222.1_Intron NM_001803.2 NP_001794.2 P31358 CD52_HUMAN CD52 molecule 7 elevation of cytosolic calcium ion concentration|respiratory burst anchored to membrane|integral to plasma membrane|membrane fraction large_intestine(1) 1 all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649) Alemtuzumab(DB00087) CTTCCTCTTCCTCCTACTCAC 0.527000 33 58 0 0 0.005524 0 0 PCSK9 255738 broad.mit.edu 37 1 55518042 55518042 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:55518042C>T ENST00000302118.5 + 4 905 c.615C>T c.(613-615)ttC>ttT p.F205F PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000543384.1_Silent_p.F5F NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 205 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 TCACCGACTTCGAGAATGTGC 0.607000 112 271 0 0 0.003610 0 0 GLB1L 79411 broad.mit.edu 37 2 220108284 220108284 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:220108284C>T ENST00000295759.7 - 2 325 c.12G>A c.(10-12)aaG>aaA p.K4K GLB1L_ENST00000409640.1_Silent_p.K4K|GLB1L_ENST00000392089.2_Silent_p.K4K|GLB1L_ENST00000356283.3_Silent_p.K4K Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 4 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGACAGCTTCTTGGGAGCCA 0.637000 15 45 0 0 0.004990 0 0 KIAA1429 25962 broad.mit.edu 37 8 95550487 95550487 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:95550487C>T ENST00000297591.5 - 3 342 c.e3+1 KIAA1429_ENST00000421249.2_Splice_Site|KIAA1429_ENST00000437199.1_Splice_Site NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CAGGTACATACCTTCCCAACC 0.378000 27 80 0 0 0.002096 0 0 SCN2A 6326 broad.mit.edu 37 2 166243507 166243507 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:166243507G>A ENST00000357398.3 + 26 5093 c.4803G>A c.(4801-4803)gtG>gtA p.V1601V SCN2A_ENST00000375437.2_Silent_p.V1601V|SCN2A_ENST00000283256.6_Silent_p.V1601V|SCN2A_ENST00000375427.2_Silent_p.V1601V Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1601 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATTTTGTGGTGGTCATTCTCT 0.333000 25 63 0 0 0.005443 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110464385 110464385 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:110464385C>T ENST00000378402.5 + 42 6487 c.6383C>T c.(6382-6384)gCt>gTt p.A2128V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2128 IPT/TIG 14. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATCACCATAGCTGAAGCCAAA 0.398000 HNSCC(38;0.096) 11 33 0 0 0.000978 0 0 SNHG14 104472715 broad.mit.edu 37 15 25444520 25444520 + RNA SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:25444520T>G ENST00000424208.1 + 0 1793 SNHG14_ENST00000424333.1_RNA NR_003305.1 GTTGTCCTGGTTTCCTACACT 0.587000 25 32 0 0 0.002780 0 0 SIRT5 23408 broad.mit.edu 37 6 13612087 13612087 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:13612087C>T ENST00000606117.1 + 10 1219 c.923C>T c.(922-924)aCt>aTt p.T308I SIRT5_ENST00000359782.3_Missense_Mutation_p.T290I|SIRT5_ENST00000397350.2_Missense_Mutation_p.T200I NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 308 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) GAAAATGAAACTGTTTCTTAA 0.438000 80 192 0 0 0.003610 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147685 100147685 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:100147685A>G ENST00000231461.5 - 5 1256 c.946T>C c.(946-948)Tat>Cat p.Y316H NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 316 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TCATCATAATAATGATATTTG 0.358000 15 33 0 0 0.003163 0 0 CLEC4D 338339 broad.mit.edu 37 12 8671612 8671612 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:8671612C>T ENST00000299665.2 + 4 433 c.240C>T c.(238-240)acC>acT p.T80T NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 80 innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) GAGGGAGCACCTGGAACTGTT 0.398000 7 15 0 0 0.004482 0 0 RASEF 158158 broad.mit.edu 37 9 85677407 85677407 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:85677407G>C ENST00000376447.3 - 1 636 c.376C>G c.(376-378)Cgg>Ggg p.R126G RASEF_ENST00000340717.4_Missense_Mutation_p.R126G NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 126 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TGCCAAGCCCGGCCGGGACTC 0.697000 9 8 0 0 0.002450 0 0 NALCN 259232 broad.mit.edu 37 13 101717830 101717830 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:101717830G>A ENST00000251127.6 - 40 4611 c.4530C>T c.(4528-4530)ctC>ctT p.L1510L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1510 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTTAAACAGGAGCTTGTCCT 0.602000 20 71 0 0 0.007413 0 0 CNTN5 53942 broad.mit.edu 37 11 100126511 100126511 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:100126511G>A ENST00000524871.1 + 17 2315 c.2025G>A c.(2023-2025)ggG>ggA p.G675G CNTN5_ENST00000279463.3_Silent_p.G675G|CNTN5_ENST00000528682.1_Silent_p.G675G|CNTN5_ENST00000418526.2_Silent_p.G601G|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.G675G NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 675 Fibronectin type-III 1. 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) GCCCACCTGGGATAGTAATTG 0.458000 16 43 0 0 0.006122 0 0 SLC38A1 81539 broad.mit.edu 37 12 46598345 46598345 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:46598345G>A ENST00000398637.5 - 10 1369 c.675C>T c.(673-675)tcC>tcT p.S225S SLC38A1_ENST00000439706.1_Silent_p.S225S|SLC38A1_ENST00000549049.1_Silent_p.S225S|SLC38A1_ENST00000546893.1_Silent_p.S225S|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Silent_p.S225S NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 225 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TACAGCTCAAGGAAAATCCAC 0.299000 55 112 0 0 0.003610 0 0 RTL1 388015 broad.mit.edu 37 14 101351056 101351056 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:101351056C>T ENST00000534062.1 - 1 128 c.70G>A c.(70-72)Gag>Aag p.E24K MIR136_ENST00000385207.1_RNA NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 24 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCGGAGGACTCCATTTGTTTT 0.542000 8 37 0 0 0.004482 0 0 MYOM3 127294 broad.mit.edu 37 1 24432553 24432553 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:24432553G>A ENST00000330966.7 - 5 582 c.420C>T c.(418-420)gtC>gtT p.V140V MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.V139V|MYOM3_ENST00000329601.7_Silent_p.V139V Q5VTT5 MYOM3_HUMAN myomesin 3 139 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGGCCTCCTGGACCTTCTCCT 0.637000 10 21 0 0 0.000978 0 0 MYO7B 4648 broad.mit.edu 37 2 128331611 128331611 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:128331611C>T ENST00000389524.4 + 7 762 c.709C>T c.(709-711)Ctg>Ttg p.L237L MYO7B_ENST00000409816.2_Silent_p.L237L|MYO7B_ENST00000428314.1_Silent_p.L237L Q6PIF6 MYO7B_HUMAN myosin VIIB 237 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCAATTTCTCCTGGAGAAGTC 0.602000 51 125 0 0 0.003610 0 0 GCKR 2646 broad.mit.edu 37 2 27719829 27719829 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:27719829G>A ENST00000264717.2 + 1 121 c.58G>A c.(58-60)Gag>Aag p.E20K GCKR_ENST00000424318.2_5'UTR NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 20 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TGGCAAGTGGGAGGTGAGACC 0.527000 17 32 0 0 0.010504 0 0 OSBPL9 114883 broad.mit.edu 37 1 52211292 52211292 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:52211292G>A ENST00000371710.3 + 5 639 c.457G>A c.(457-459)Gaa>Aaa p.E153K OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000428468.1_Missense_Mutation_p.E135K|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E67K|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E135K|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E118K|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E153K|OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000447887.1_Missense_Mutation_p.E158K|OSBPL9_ENST00000462759.1_5'UTR|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000531828.1_5'UTR|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E38K NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 135 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 AATCTTGATTGAACAATTAAA 0.289000 16 22 0 0 0.004990 0 0 CERS3 204219 broad.mit.edu 37 15 101024870 101024870 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:101024870C>T ENST00000284382.4 - 6 715 c.292G>A c.(292-294)Gat>Aat p.D98N CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Missense_Mutation_p.D98N|CERS3_ENST00000538112.2_Missense_Mutation_p.D98N NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 98 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CCATAAATATCAGTCTGAAAA 0.468000 30 24 0 0 0.002836 0 0 CACNA1S 779 broad.mit.edu 37 1 201036090 201036090 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:201036090C>T ENST00000362061.3 - 20 2808 c.2582G>A c.(2581-2583)gGt>gAt p.G861D CACNA1S_ENST00000367338.3_Missense_Mutation_p.G861D NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 861 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCAGAAGGAACCCTTGTGCAG 0.597000 4 22 0 0 0.009096 0 0 USP29 57663 broad.mit.edu 37 19 57640389 57640389 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:57640389G>A ENST00000254181.4 + 4 800 c.346G>A c.(346-348)Gat>Aat p.D116N USP29_ENST00000598197.1_Missense_Mutation_p.D116N NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 116 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCTGATGATGATTGGAGTGT 0.353000 13 38 0 0 0.002450 0 0 ANKS1B 56899 broad.mit.edu 37 12 99898353 99898353 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:99898353G>A ENST00000547776.2 - 10 1338 c.1339C>T c.(1339-1341)Cct>Tct p.P447S ANKS1B_ENST00000329257.7_Missense_Mutation_p.P447S|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P27S NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 447 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTTTCTGAAGGAAATGTATCC 0.388000 10 14 0 0 0.006214 0 0 MOG 4340 broad.mit.edu 37 6 29637982 29637982 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:29637982G>A ENST00000494692.1 + 6 624 c.624G>A c.(622-624)aaG>aaA p.K208K MOG_ENST00000416766.2_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000396704.3_Silent_p.K208K|MOG_ENST00000376902.3_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Intron|MOG_ENST00000490427.1_Silent_p.K92K|MOG_ENST00000376894.4_Intron|MOG_ENST00000533330.2_Intron NM_001008228.2|NM_206811.3 NP_001008229.1|NP_996534.2 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 223 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 CCCAGGTTAAGGAACCAAAAA 0.463000 18 46 0 0 0.007413 0 0 MAP7 9053 broad.mit.edu 37 6 136687023 136687023 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:136687023C>T ENST00000354570.3 - 10 1533 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K MAP7_ENST00000454590.1_Missense_Mutation_p.E397K|MAP7_ENST00000438100.2_Missense_Mutation_p.E360K|MAP7_ENST00000432797.2_Missense_Mutation_p.E229K|MAP7_ENST00000544465.1_Missense_Mutation_p.E360K NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 375 Pro-rich. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) ACTTTGACTTCCCTCTTGACA 0.567000 40 66 0 0 0.009718 0 0 EMB 133418 broad.mit.edu 37 5 49724062 49724062 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:49724062C>T ENST00000303221.5 - 2 328 c.e2-1 EMB_ENST00000506190.1_Splice_Site|EMB_ENST00000508934.1_Splice_Site|EMB_ENST00000514111.1_Splice_Site NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) AAAGGCGAATCTATAAGAGAA 0.328000 13 35 0 0 0.001855 0 0 PYGL 5836 broad.mit.edu 37 14 51390768 51390768 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:51390768G>A ENST00000216392.7 - 5 911 c.579C>T c.(577-579)tcC>tcT p.S193S PYGL_ENST00000532462.1_Silent_p.S193S|PYGL_ENST00000544180.2_Silent_p.S159S NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 193 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) ATTCTGGGCGGGACTTCTCCC 0.433000 29 58 0 0 0.009535 0 0 MMP1 4312 broad.mit.edu 37 11 102667484 102667484 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:102667484C>T ENST00000315274.6 - 4 603 c.536G>A c.(535-537)gGa>gAa p.G179E WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 179 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) AGCAAGATTTCCTCCAGGTCC 0.438000 13 23 0 0 0.002450 0 0 TMC7 79905 broad.mit.edu 37 16 19041653 19041653 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:19041653C>T ENST00000421369.3 + 6 1047 c.489C>T c.(487-489)atC>atT p.I163I TMC7_ENST00000304381.5_Silent_p.I273I|TMC7_ENST00000569532.1_Silent_p.I273I NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 273 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TAAGCACAATCGCCTCCCTGG 0.463000 23 28 0 0 0.002299 0 0 CCR4 1233 broad.mit.edu 37 3 32995348 32995348 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:32995348C>T ENST00000330953.5 + 2 602 c.434C>T c.(433-435)tCc>tTc p.S145F NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 145 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 GCGGTGTTTTCCTTGAGGGCA 0.483000 66 121 0 0 0.003610 0 0 GSTM5 2949 broad.mit.edu 37 1 110256339 110256339 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:110256339G>A ENST00000369813.1 + 3 1098 c.193G>A c.(193-195)Gat>Aat p.D65N GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Missense_Mutation_p.D125N|GSTM5_ENST00000256593.3_Missense_Mutation_p.D106N P46439 GSTM5_HUMAN glutathione S-transferase mu 5 106 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) CCAGGTTATGGATAACCACAT 0.522000 14 16 0 0 0.004990 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18194934 18194934 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:18194934G>A ENST00000314254.3 + 1 551 c.131G>A c.(130-132)gGa>gAa p.G44E RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 44 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GGACTGACAGGAAACGCGGTT 0.562000 30 58 0 0 0.002836 0 0 CACNA1I 8911 broad.mit.edu 37 22 39966826 39966826 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:39966826G>A ENST00000336649.4 + 1 69 c.69G>A c.(67-69)acG>acA p.T23T CACNA1I_ENST00000407673.1_Silent_p.T23T|CACNA1I_ENST00000404898.1_Silent_p.T23T|CACNA1I_ENST00000402142.3_Silent_p.T23T|CACNA1I_ENST00000401624.1_Silent_p.T23T|CACNA1I_ENST00000400164.3_Silent_p.T23T Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 23 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GAGTCACCACGGAGCAGCCCG 0.692000 10 18 0 0 0.006214 0 0 F8 2157 broad.mit.edu 37 X 154132639 154132639 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:154132639C>T ENST00000360256.4 - 17 5947 c.5747G>A c.(5746-5748)aGa>aAa p.R1916K NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1916 F5/8 type A 3.|Plastocyanin-like 6. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CCTGCAGTTTCTTTCCATATT 0.408000 95 62 0 0 0.003610 0 0 TMEM135 65084 broad.mit.edu 37 11 87029190 87029190 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:87029190C>T ENST00000340353.7 + 12 1225 c.1023C>T c.(1021-1023)ttC>ttT p.F341F TMEM135_ENST00000535167.1_Silent_p.F224F|TMEM135_ENST00000305494.5_Silent_p.F363F|TMEM135_ENST00000532959.1_Silent_p.F234F NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 363 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CAATGTATTTCAAAGGCATTG 0.378000 12 53 0 0 0.004007 0 0 SLC17A6 57084 broad.mit.edu 37 11 22399051 22399051 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:22399051G>A ENST00000263160.3 + 12 1951 c.1514G>A c.(1513-1515)tGg>tAg p.W505* NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 505 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 AAACAACCCTGGGCAGACCCG 0.403000 19 31 0 0 0.006122 0 0 AFF2 2334 broad.mit.edu 37 X 148037297 148037297 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:148037297G>A ENST00000370460.2 + 11 2201 c.1722G>A c.(1720-1722)acG>acA p.T574T AFF2_ENST00000286437.5_Silent_p.T215T|AFF2_ENST00000342251.3_Silent_p.T541T|AFF2_ENST00000370457.5_Silent_p.T541T NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 574 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.T574T(2)|p.T215T(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AAGTGAAGACGAATGCCAGTC 0.473000 93 45 0 0 0.003610 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 54 23 0 0 0.003610 0 0 SPEG 10290 broad.mit.edu 37 2 220354205 220354205 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:220354205C>T ENST00000312358.7 + 36 8597 c.8465C>T c.(8464-8466)tCa>tTa p.S2822L SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2822 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GTCAGCCCCTCATCTCCCCCC 0.677000 7 37 0 0 0.001984 0 0 PRRC2A 7916 broad.mit.edu 37 6 31599685 31599685 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:31599685C>T ENST00000376033.2 + 16 3469 c.3235C>T c.(3235-3237)Ccc>Tcc p.P1079S PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1079S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1079 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding p.P1079S(1) 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 CCCTCCTGCTCCCCGAGGCCG 0.657000 10 17 0 0 0.006214 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42361047 42361047 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:42361047C>T ENST00000290472.3 - 20 2417 c.2323G>A c.(2323-2325)Gag>Aag p.E775K NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 775 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AAGTCTTCCTCCTTGTAGGTC 0.657000 8 16 0 0 0.006214 0 0 DIP2C 22982 broad.mit.edu 37 10 430065 430065 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:430065G>A ENST00000280886.6 - 16 1865 c.1778C>T c.(1777-1779)tCg>tTg p.S593L DIP2C_ENST00000381496.3_Missense_Mutation_p.S486L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 593 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CATATCCCTCGATTTCACACA 0.463000 20 41 0 0 0.001882 0 0 THNSL2 55258 broad.mit.edu 37 2 88472870 88472870 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:88472870C>T ENST00000324166.5 + 1 1892 c.201C>T c.(199-201)ctC>ctT p.L67L THNSL2_ENST00000402102.1_Silent_p.L67L|THNSL2_ENST00000377254.3_Silent_p.L67L|THNSL2_ENST00000358591.2_Silent_p.L67L|THNSL2_ENST00000343544.4_Silent_p.L67L|THNSL2_ENST00000449349.1_Silent_p.L35L NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 67 threonine biosynthetic process threonine synthase activity breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 GCTCTGAGCTCCTTCCAAAAG 0.522000 8 36 0 0 0.003080 0 0 SPZ1 84654 broad.mit.edu 37 5 79616671 79616671 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:79616671C>T ENST00000296739.4 + 1 882 c.637C>T c.(637-639)Cgt>Tgt p.R213C NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 213 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) TTTGGTAAATCGTTTAGAAGA 0.343000 13 19 0 0 0.002450 0 0 ZNF81 347344 broad.mit.edu 37 X 47775930 47775930 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:47775930C>T ENST00000376954.1 + 6 2253 c.1885C>T c.(1885-1887)Cag>Tag p.Q629* ZNF81_ENST00000338637.7_Nonsense_Mutation_p.Q629* P51508 ZNF81_HUMAN zinc finger protein 81 629 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) CAATAAACATCAGACAATTCA 0.393000 10 5 0 0 0.000978 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616716 77616716 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:77616716C>T ENST00000521891.2 + 2 841 c.393C>T c.(391-393)atC>atT p.I131I ZFHX4_ENST00000050961.6_Silent_p.I131I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.I131I|ZFHX4_ENST00000518282.1_Silent_p.I131I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 131 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I131I(2) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGGGGAGATCGTTTACCAGC 0.493000 HNSCC(33;0.089) 32 46 0 0 0.008361 0 0 POU5F2 134187 broad.mit.edu 37 5 93076970 93076970 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:93076970G>A ENST00000510627.4 - 1 373 c.300C>T c.(298-300)ctC>ctT p.L100L FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 100 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) AGGGCCCCGGGAGGGCGCCTT 0.637000 11 28 0 0 0.000978 0 0 PRDM9 56979 broad.mit.edu 37 5 23526506 23526506 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:23526506C>T ENST00000296682.3 + 11 1491 c.1309C>T c.(1309-1311)Cag>Tag p.Q437* NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 437 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGATCAGAATCAGGAGCAGCA 0.468000 HNSCC(3;0.000094) 17 60 0 0 0.004990 0 0 GCN1L1 10985 broad.mit.edu 37 12 120580453 120580453 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:120580453G>A ENST00000300648.6 - 44 5699 c.5687C>T c.(5686-5688)aCc>aTc p.T1896I NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1896 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) CACCAGCTGGGTGTCTGAGCG 0.622000 19 46 0 0 0.002780 0 0 CYP39A1 51302 broad.mit.edu 37 6 46604200 46604200 + Nonsense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:46604200T>A ENST00000275016.2 - 5 861 c.658A>T c.(658-660)Aag>Tag p.K220* NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 220 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 AGGAACCACTTTTTGGATTTT 0.313000 28 30 0 0 0.002445 0 0 FLT1 2321 broad.mit.edu 37 13 29041073 29041073 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:29041073C>T ENST00000282397.4 - 3 606 c.355G>A c.(355-357)Gaa>Aaa p.E119K FLT1_ENST00000541932.1_Missense_Mutation_p.E119K|FLT1_ENST00000539099.1_Missense_Mutation_p.E119K NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 119 Ig-like C2-type 1. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GATTCTGTTTCCTTCTTCTTT 0.363000 14 46 0 0 0.001855 0 0 XIST 7503 broad.mit.edu 37 X 73066488 73066488 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:73066488C>T ENST00000429829.1 - 0 6100 NR_001564.2 GTGGGCACTTCCTGCTGGAAG 0.468000 24 21 0 0 0.003330 0 0 PAK3 5063 broad.mit.edu 37 X 110439124 110439124 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:110439124A>C ENST00000519681.1 + 16 1670 c.1228A>C c.(1228-1230)Aag>Cag p.K410Q PAK3_ENST00000262836.4_Missense_Mutation_p.K404Q|PAK3_ENST00000360648.4_Missense_Mutation_p.K425Q|PAK3_ENST00000372007.4_Missense_Mutation_p.K389Q|PAK3_ENST00000372010.1_Missense_Mutation_p.K404Q|PAK3_ENST00000518291.1_Missense_Mutation_p.K425Q|PAK3_ENST00000417227.1_Missense_Mutation_p.K410Q|PAK3_ENST00000446737.1_Missense_Mutation_p.K389Q|PAK3_ENST00000425146.1_Missense_Mutation_p.K389Q O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 404 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TAGAGATATAAAGAGTGACAA 0.343000 TSP Lung(19;0.15) 59 30 0 0 0.003610 0 0 MTF1 4520 broad.mit.edu 37 1 38281117 38281117 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:38281117C>T ENST00000373036.4 - 11 2093 c.1953G>A c.(1951-1953)aaG>aaA p.K651K NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 651 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGGAGCAGCCCTTTCTCCTGC 0.617000 15 41 0 0 0.002450 0 0 FMO3 2328 broad.mit.edu 37 1 171080030 171080030 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:171080030G>A ENST00000367755.4 + 6 830 c.719G>A c.(718-720)gGa>gAa p.G240E FMO3_ENST00000542847.1_Missense_Mutation_p.G220E|FMO3_ENST00000538429.1_Missense_Mutation_p.G177E|FMO3_ENST00000392085.2_Missense_Mutation_p.G240E NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 240 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.G240E(1) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACTCGATTTGGAACCTTCCTC 0.468000 42 81 0 0 0.006999 0 0 ZNF135 7694 broad.mit.edu 37 19 58579610 58579610 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:58579610C>T ENST00000506786.1 + 5 2186 c.1632C>T c.(1630-1632)tcC>tcT p.S544S ZNF135_ENST00000439855.2_Silent_p.S586S|ZNF135_ENST00000401053.4_Silent_p.S610S|ZNF135_ENST00000313434.5_Silent_p.S586S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Silent_p.S598S B4DHH9 B4DHH9_HUMAN zinc finger protein 135 598 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GTGGGAAATCCTTCAGCCACA 0.552000 20 70 0 0 0.010504 0 0 DNAH5 1767 broad.mit.edu 37 5 13719100 13719100 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13719100C>T ENST00000265104.4 - 72 12494 c.12390G>A c.(12388-12390)atG>atA p.M4130I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4130 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCTCGGTGGTCATCCAGAGGC 0.473000 Kartagener syndrome 34 69 0 0 0.003271 0 0 DENND4A 10260 broad.mit.edu 37 15 65988768 65988768 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:65988768G>A ENST00000443035.3 - 22 3230 c.3015C>T c.(3013-3015)tcC>tcT p.S1005S DENND4A_ENST00000431932.2_Silent_p.S962S NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 962 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 GAACGATACTGGAAGAATTTT 0.378000 48 19 0 0 0.003610 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724815 140724815 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140724815G>A ENST00000253812.6 + 1 1215 c.1215G>A c.(1213-1215)gtG>gtA p.V405V PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGCTTAGTGACGGCCACAT 0.453000 22 46 0 0 0.010504 0 0 KMT2A 4297 broad.mit.edu 37 11 118366464 118366464 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:118366464T>A ENST00000534358.1 + 19 5436 c.5413T>A c.(5413-5415)Tat>Aat p.Y1805N KMT2A_ENST00000389506.5_Missense_Mutation_p.Y1802N|KMT2A_ENST00000354520.4_Missense_Mutation_p.Y1764N NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TGACCATAATTATGCTCAGTG 0.443000 24 54 0 0 0.002780 0 0 L1TD1 54596 broad.mit.edu 37 1 62675659 62675659 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:62675659G>A ENST00000498273.1 + 4 1508 c.1213G>A c.(1213-1215)Gag>Aag p.E405K NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 405 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 AGGGCTggaggaggaggagga 0.542000 24 34 0 0 0.002299 0 0 MYBPC3 4607 broad.mit.edu 37 11 47355234 47355234 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:47355234G>A ENST00000399249.2 - 28 3118 c.3064C>T c.(3064-3066)Cgc>Tgc p.R1022C MYBPC3_ENST00000256993.4_Missense_Mutation_p.R1021C|MYBPC3_ENST00000545968.1_Missense_Mutation_p.R1022C Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 1021 Ig-like C2-type 6. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GGGCTGTTGCGGATGCTCACC 0.622000 14 25 0 0 0.003163 0 0 KCNB2 9312 broad.mit.edu 37 8 73849114 73849114 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:73849114C>T ENST00000523207.1 + 3 2112 c.1524C>T c.(1522-1524)ttC>ttT p.F508F NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 508 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACAAGTCTTTCGAGAATAAGT 0.547000 28 91 0 0 0.007291 0 0 DHRS7C 201140 broad.mit.edu 37 17 9683345 9683345 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:9683345G>A ENST00000330255.4 - 3 290 c.278C>T c.(277-279)aCc>aTc p.T93I DHRS7C_ENST00000571134.1_Missense_Mutation_p.T92I NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 93 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CAGCTTTGGGGTGAATGTCTG 0.507000 8 12 0 0 0.006214 0 0 C1orf106 55765 broad.mit.edu 37 1 200880585 200880585 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:200880585G>A ENST00000367342.4 + 9 1419 c.1219G>A c.(1219-1221)Gat>Aat p.D407N C1orf106_ENST00000413687.2_Missense_Mutation_p.D322N NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 407 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CTTCAGGGTGGATTCCTTCCG 0.632000 29 163 0 0 0.009535 0 0 ABRA 137735 broad.mit.edu 37 8 107773536 107773536 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:107773536C>T ENST00000311955.3 - 2 929 c.875G>A c.(874-876)gGa>gAa p.G292E NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 292 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) AGTTTTGGTTCCTTCTTTGGG 0.517000 20 43 0 0 0.010504 0 0 HGD 3081 broad.mit.edu 37 3 120352144 120352144 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:120352144G>A ENST00000283871.5 - 13 1497 c.1038C>T c.(1036-1038)atC>atT p.I346I NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 346 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) AGTGACCTCGGATGAGTCCCA 0.493000 50 148 0 0 0.003610 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904929 73904929 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:73904929G>A ENST00000342056.2 + 15 3046 c.2648G>A c.(2647-2649)tGg>tAg p.W883* KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.W874*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.W864*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.W754*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.W865*|KCNQ5_ENST00000370398.1_Nonsense_Mutation_p.W864*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.W855* NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 864 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TACCCCAAATGGAGGGAATCC 0.502000 23 50 0 0 0.002780 0 0 ANKHD1 54882 broad.mit.edu 37 5 139884528 139884528 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:139884528C>T ENST00000297183.6 + 16 3251 c.3127C>T c.(3127-3129)Cct>Tct p.P1043S ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1043S|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1043S NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGTGTATCCTTCAGTTGA 0.393000 26 73 0 0 0.006320 0 0 FLOT1 10211 broad.mit.edu 37 6 30698467 30698467 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:30698467A>G ENST00000376389.3 - 10 1163 c.943T>C c.(943-945)Tct>Cct p.S315P FLOT1_ENST00000456573.2_Missense_Mutation_p.S267P NM_005803.2 NP_005794.1 O75955 FLOT1_HUMAN flotillin 1 315 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 13 ACCCGCACAGACGCGGCTTCT 0.557000 11 274 0 0 0.002450 0 0 THAP8 199745 broad.mit.edu 37 19 36530864 36530864 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:36530864G>A ENST00000292894.1 - 2 802 c.258C>T c.(256-258)tcC>tcT p.S86S AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000524106.1_5'UTR|THAP8_ENST00000538849.1_Intron NM_152658.2 NP_689871.1 Q8NA92 THAP8_HUMAN THAP domain containing 8 86 DNA binding|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GTGGTCCCCGGGAGAAGATGG 0.632000 17 47 0 0 0.007413 0 0 CLTC 1213 broad.mit.edu 37 17 57761064 57761064 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:57761064A>G ENST00000269122.3 + 27 4544 c.4270A>G c.(4270-4272)Atg>Gtg p.M1424V CLTC_ENST00000579456.1_Missense_Mutation_p.M361V|CLTC_ENST00000393043.1_Missense_Mutation_p.M1424V NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1424 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TGATTTGCTGATGGTGCTGTC 0.383000 T """ALK, TFE3""" """ALCL, renal """ 16 46 0 0 0.003163 0 0 SLC26A7 115111 broad.mit.edu 37 8 92346639 92346639 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:92346639G>T ENST00000276609.3 + 6 998 c.759G>T c.(757-759)agG>agT p.R253S SLC26A7_ENST00000523719.1_Missense_Mutation_p.R253S|SLC26A7_ENST00000309536.2_Missense_Mutation_p.R253S NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 253 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity p.R253R(2) breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGTTTAAAAGGAAAATTAAAG 0.363000 6 34 0.00116845 0.00134124 0.001168 1 0 CR1L 1379 broad.mit.edu 37 1 207850845 207850845 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:207850845C>T ENST00000508064.2 + 2 269 c.209C>T c.(208-210)tCc>tTc p.S70F CR1L_ENST00000530905.1_3'UTR NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 70 Sushi 1. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CCTGGTTATTCCGGAAGACCG 0.473000 52 84 0 0 0.003610 0 0 SMYD4 114826 broad.mit.edu 37 17 1715306 1715306 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:1715306G>A ENST00000305513.7 - 3 405 c.238C>T c.(238-240)Cag>Tag p.Q80* NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 80 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 TCTTTCTCCTGAAATTTTTTG 0.393000 53 84 0 0 0.003610 0 0 NCAN 1463 broad.mit.edu 37 19 19338458 19338458 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:19338458G>A ENST00000252575.5 + 8 2072 c.2029G>A c.(2029-2031)Gtg>Atg p.V677M NCAN_ENST00000538881.1_Missense_Mutation_p.V128M NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 677 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) AGAGACCAAGGTGTATTCCCT 0.617000 40 82 0 0 0.006999 0 0 RASGRF2 5924 broad.mit.edu 37 5 80497237 80497237 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:80497237G>A ENST00000265080.4 + 19 2949 c.2882G>A c.(2881-2883)aGg>aAg p.R961K NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 961 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCCCAAGAAAGGAAAGCCGCC 0.413000 20 64 0 0 0.001882 0 0 PWP2 5822 broad.mit.edu 37 21 45540342 45540342 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:45540342C>T ENST00000291576.7 + 11 1429 c.1302C>T c.(1300-1302)tcC>tcT p.S434S NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 434 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TGACCTCATCCATGGACGGGA 0.597000 46 90 0 0 0.003610 0 0 CST8 10047 broad.mit.edu 37 20 23476513 23476513 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:23476513G>A ENST00000246012.1 + 4 748 c.391G>A c.(391-393)Gaa>Aaa p.E131K NM_005492.2 NP_005483.1 O60676 CST8_HUMAN cystatin 8 (cystatin-related epididymal specific) 131 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) CTGGAATGGTGAATTCACTGT 0.368000 21 62 0 0 0.003954 0 0 CREM 1390 broad.mit.edu 37 10 35437404 35437404 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:35437404C>T ENST00000333809.8 + 2 207 c.153C>T c.(151-153)atC>atT p.I51I CREM_ENST00000460270.1_Intron|CREM_ENST00000439705.1_Silent_p.I51I|CREM_ENST00000469949.2_Silent_p.I35I|CREM_ENST00000374726.3_Silent_p.I35I|CREM_ENST00000374734.3_Silent_p.I51I|CREM_ENST00000474362.1_Intron|CREM_ENST00000374728.3_Silent_p.I35I|CREM_ENST00000345491.3_Silent_p.I51I|CREM_ENST00000489388.1_Intron|CREM_ENST00000348787.2_Silent_p.I35I|CREM_ENST00000479070.1_Silent_p.I51I|CREM_ENST00000354759.3_Silent_p.I51I|CREM_ENST00000374721.3_Silent_p.I35I|CREM_ENST00000429130.3_Silent_p.I35I|CREM_ENST00000395895.2_Silent_p.I51I|CREM_ENST00000337656.4_Silent_p.I51I|CREM_ENST00000489321.1_Silent_p.I35I NM_183011.1 NP_898829.1 Q03060 CREM_HUMAN cAMP responsive element modulator 51 cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 AAAATTCAATCCCTGCTTTAG 0.428000 18 41 0 0 0.007413 0 0 SCN11A 11280 broad.mit.edu 37 3 38888386 38888386 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38888386G>A ENST00000302328.3 - 26 5373 c.5175C>T c.(5173-5175)gtC>gtT p.V1725V SCN11A_ENST00000456224.3_Silent_p.V1687V|SCN11A_ENST00000450244.1_Silent_p.V1725V NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1725 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGGTGGTGGTGACTATGGGTT 0.463000 6 154 0 0 0.001984 0 0 GABRG2 2566 broad.mit.edu 37 5 161524745 161524745 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:161524745G>A ENST00000356592.3 + 4 889 c.429G>A c.(427-429)ggG>ggA p.G143G GABRG2_ENST00000393933.4_Silent_p.G48G|GABRG2_ENST00000414552.2_Silent_p.G143G|GABRG2_ENST00000361925.4_Silent_p.G143G NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 143 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ACATGGTGGGGAAAATCTGGA 0.408000 28 53 0 0 0.006320 0 0 PLCE1 51196 broad.mit.edu 37 10 96073108 96073108 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:96073108G>A ENST00000260766.3 + 28 6735 c.6101G>A c.(6100-6102)gGa>gAa p.G2034E PLCE1_ENST00000371380.2_Missense_Mutation_p.G2034E|PLCE1_ENST00000371375.1_Missense_Mutation_p.G1726E|PLCE1_ENST00000371385.3_Missense_Mutation_p.G1726E NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 2034 Ras-associating 1. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.G2034E(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) ACTATTAATGGAGGCACCAAG 0.453000 41 68 0 0 0.003214 0 0 RGL1 23179 broad.mit.edu 37 1 183885623 183885623 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:183885623G>A ENST00000304685.3 + 17 2358 c.1897G>A c.(1897-1899)Gac>Aac p.D633N RGL1_ENST00000539189.1_Missense_Mutation_p.D569N|RGL1_ENST00000367531.1_Missense_Mutation_p.D633N|RGL1_ENST00000536277.1_Missense_Mutation_p.D596N|RGL1_ENST00000360851.3_Missense_Mutation_p.D598N NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 598 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 CCATTCCATGGACACAAATTC 0.502000 28 102 0 0 0.005443 0 0 CDCA5 113130 broad.mit.edu 37 11 64846871 64846871 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:64846871G>A ENST00000275517.3 - 5 804 c.632C>T c.(631-633)cCa>cTa p.P211L CDCA5_ENST00000404147.3_Missense_Mutation_p.P211L NM_080668.3 NP_542399.1 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 211 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 TTTCTCGGGTGGTGGGGAGAT 0.572000 15 49 0 0 0.004990 0 0 TMEM63B 55362 broad.mit.edu 37 6 44102468 44102468 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:44102468C>T ENST00000259746.9 + 2 330 c.147C>T c.(145-147)ttC>ttT p.F49F TMEM63B_ENST00000323267.6_Silent_p.F49F Q5T3F8 TM63B_HUMAN transmembrane protein 63B 49 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CTCTCGACTTCATGTGCTTCC 0.607000 26 70 0 0 0.008361 0 0 COL20A1 57642 broad.mit.edu 37 20 61943346 61943346 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:61943346C>T ENST00000422202.1 + 13 1831 c.1763C>T c.(1762-1764)cCg>cTg p.P588L COL20A1_ENST00000435874.1_Missense_Mutation_p.P588L|COL20A1_ENST00000326996.6_Missense_Mutation_p.P581L|COL20A1_ENST00000358894.6_Missense_Mutation_p.P581L Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 581 Fibronectin type-III 4. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GAGGGTGCCCCGAGGCCTGTG 0.682000 6 28 0 0 0.001984 0 0 BRINP1 1620 broad.mit.edu 37 9 121971022 121971022 + Missense_Mutation SNP G G A rs112160006 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:121971022G>A ENST00000265922.3 - 7 1581 c.1120C>T c.(1120-1122)Ccc>Tcc p.P374S DBC1_ENST00000482797.1_5'UTR NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 374 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TGGTGGTTGGGATTGTGGCGA 0.562000 13 17 0 0 0.004007 0 0 CPA3 1359 broad.mit.edu 37 3 148600313 148600313 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:148600313C>T ENST00000296046.3 + 8 761 c.709C>T c.(709-711)Cgt>Tgt p.R237C RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 237 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GAGAAAAAATCGTTCCAAGAA 0.383000 7 19 0 0 0.001984 0 0 PEG3 5178 broad.mit.edu 37 19 57327958 57327958 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:57327958G>A ENST00000326441.9 - 10 2215 c.1852C>T c.(1852-1854)Cag>Tag p.Q618* ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.Q618*|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.Q494*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.Q492*|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 618 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TACATTTTCTGAAACTCATTA 0.448000 6 19 0 0 0.001168 0 0 WDR52 55779 broad.mit.edu 37 3 113084890 113084890 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:113084890G>A ENST00000393845.2 - 19 2777 c.2711C>T c.(2710-2712)cCc>cTc p.P904L WDR52_ENST00000295868.2_Missense_Mutation_p.P904L NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 904 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 ACATACCCTGGGAGATGGAAC 0.289000 35 89 0 0 0.002852 0 0 MGAT1 4245 broad.mit.edu 37 5 180219617 180219617 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:180219617G>A ENST00000446023.2 - 3 1105 c.355C>T c.(355-357)Cgg>Tgg p.R119W MGAT1_ENST00000393340.3_Missense_Mutation_p.R119W|MGAT1_ENST00000427865.2_Missense_Mutation_p.R119W|MGAT1_ENST00000333055.3_Missense_Mutation_p.R119W|MGAT1_ENST00000307826.4_Missense_Mutation_p.R119W NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 119 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGCAGCGCCGAACAGTGCTG 0.692000 8 21 0 0 0.003080 0 0 PRR23B 389151 broad.mit.edu 37 3 138738846 138738846 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:138738846G>A ENST00000329447.5 - 1 922 c.658C>T c.(658-660)Cgc>Tgc p.R220C MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 220 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCCAGAAGGCGGAATTCCAGG 0.662000 15 35 0 0 0.003163 0 0 CADM3 57863 broad.mit.edu 37 1 159166838 159166838 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:159166838C>T ENST00000368125.4 + 7 1097 c.940C>T c.(940-942)Ctc>Ttc p.L314F CADM3_ENST00000368124.4_Missense_Mutation_p.L348F|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 314 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) CTACTACACCCTCAATGTTAA 0.493000 4 38 0 0 0.001168 0 0 DNAH5 1767 broad.mit.edu 37 5 13865927 13865927 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13865927A>T ENST00000265104.4 - 27 4309 c.4205T>A c.(4204-4206)cTt>cAt p.L1402H CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1402 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TATTTCAAGAAGCTGAGGATA 0.328000 Kartagener syndrome 15 40 0 0 0.003163 0 0 ENTPD5 957 broad.mit.edu 37 14 74444066 74444066 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:74444066G>A ENST00000334696.6 - 7 772 c.453C>T c.(451-453)atC>atT p.I151I ENTPD5_ENST00000557325.1_Silent_p.I151I NM_001249.2 NP_001240.1 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 151 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) ACTTCCTGAAGATCTCCTTTA 0.413000 14 39 0 0 0.002450 0 0 DHX16 8449 broad.mit.edu 37 6 30638993 30638993 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:30638993G>A ENST00000376442.3 - 2 461 c.266C>T c.(265-267)gCc>gTc p.A89V NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 89 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CTCCAGCAGGGCCCGGGCCTC 0.552000 103 223 0 0 0.003610 0 0 MGAM 8972 broad.mit.edu 37 7 141755373 141755373 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:141755373C>T ENST00000475668.2 + 28 3384 c.3330C>T c.(3328-3330)ctC>ctT p.L1110L MGAM_ENST00000549489.2_Silent_p.L1110L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1110 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACTCTCAGCTCCTTGGCTTTA 0.458000 109 41 0 0 0.003610 0 0 BMP3 651 broad.mit.edu 37 4 81967371 81967371 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:81967371C>T ENST00000282701.2 + 2 1116 c.796C>T c.(796-798)Ccc>Tcc p.P266S NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 266 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 CCGGAATTTTCCCACTGGAAC 0.498000 12 67 0 0 0.000978 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73069757 73069757 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:73069757C>T ENST00000545377.1 + 5 729 c.553C>T c.(553-555)Ctc>Ttc p.L185F ARHGEF28_ENST00000513042.2_Missense_Mutation_p.L185F|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.L185F|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.L185F|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.L185F|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.L185F NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CTTCTTGTGTCTCCCGGGGGG 0.502000 7 11 0 0 0.004482 0 0 SERPINA6 866 broad.mit.edu 37 14 94772531 94772531 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:94772531C>T ENST00000341584.3 - 4 1055 c.909G>A c.(907-909)aaG>aaA p.K303K NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 303 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) AGATGGTGACCTTTGGAATGT 0.552000 17 32 0 0 0.007413 0 0 EMID1 129080 broad.mit.edu 37 22 29622514 29622514 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:29622514G>A ENST00000334018.6 + 5 627 c.439G>A c.(439-441)Gag>Aag p.E147K EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Missense_Mutation_p.E147K|EMID1_ENST00000404755.3_Missense_Mutation_p.E147K NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 145 collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 AGAGCTGACAGAGCGGCTGAA 0.637000 11 36 0 0 0.008291 0 0 C2orf66 401027 broad.mit.edu 37 2 197672301 197672301 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:197672301G>A ENST00000342506.2 - 2 1108 c.220C>T c.(220-222)Ctt>Ttt p.L74F NM_213608.2 NP_998773.1 Q6UXQ4 CB066_HUMAN chromosome 2 open reading frame 66 74 extracellular region endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 AATGTTCCAAGATCAAGACCT 0.383000 53 111 0 0 0.003610 0 0 NPAP1 23742 broad.mit.edu 37 15 24922388 24922388 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:24922388C>T ENST00000329468.2 + 1 1848 c.1374C>T c.(1372-1374)atC>atT p.I458I NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CATTCACAATCCCTAACTCTC 0.498000 38 58 0 0 0.004289 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6955439 6955439 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrY:6955439C>T ENST00000383032.1 + 17 2059 c.1412C>T c.(1411-1413)tCc>tTc p.S471F TBL1Y_ENST00000346432.3_Missense_Mutation_p.S471F|TBL1Y_ENST00000355162.2_Missense_Mutation_p.S471F NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked 471 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 GCTAGTGGATCCTTTGACAAG 0.473000 14 12 0 0 0.004007 0 0 PKD1L1 168507 broad.mit.edu 37 7 47917121 47917121 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:47917121G>A ENST00000289672.2 - 22 3679 c.3629C>T c.(3628-3630)aCc>aTc p.T1210I NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1210 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ACTGAAGACGGTGTGTGCTTC 0.572000 38 69 0 0 0.007835 0 0 CRYGD 1421 broad.mit.edu 37 2 208986442 208986442 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:208986442C>T ENST00000264376.4 - 3 507 c.480G>A c.(478-480)acG>acA p.T160T NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 160 Beta/gamma crystallin 'Greek key' 4. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CTCTGGCATTCGTGGCCCCCC 0.498000 12 39 0 0 0.001368 0 0 CCDC173 129881 broad.mit.edu 37 2 170518802 170518802 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:170518802C>T ENST00000447353.1 - 5 912 c.807G>A c.(805-807)agG>agA p.R269R NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 GAAACCGTCTCCTGCTTTCAT 0.308000 37 188 0 0 0.002522 0 0 POLA1 5422 broad.mit.edu 37 X 24759606 24759606 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:24759606C>T ENST00000379068.3 + 21 2374 c.2331C>T c.(2329-2331)atC>atT p.I777I POLA1_ENST00000379059.3_Silent_p.I771I P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 771 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) TCACTAACATCGCTGGGAACA 0.383000 20 15 0 0 0.008871 0 0 SPAG8 26206 broad.mit.edu 37 9 35811980 35811980 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:35811980G>A ENST00000340291.2 - 2 187 c.63C>T c.(61-63)ccC>ccT p.P21P SPAG8_ENST00000396638.2_Silent_p.P21P|SPAG8_ENST00000484764.1_Silent_p.P19P NM_172312.1 NP_758516.1 Q99932 SPAG8_HUMAN sperm associated antigen 8 21 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) CTTCGGAGCTGGGCTGTATGT 0.572000 21 27 0 0 0.010504 0 0 OR51A7 119687 broad.mit.edu 37 11 4929383 4929383 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:4929383C>T ENST00000359350.4 + 1 784 c.784C>T c.(784-786)Cac>Tac p.H262Y MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCCATGCATCACTTTGCCAA 0.488000 63 138 0 0 0.003610 0 0 METTL16 79066 broad.mit.edu 37 17 2323266 2323266 + Nonstop_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:2323266A>T ENST00000263092.5 - 10 1814 c.1687T>A c.(1687-1689)Tag>Aag p.*563K METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_Nonstop_Mutation_p.*345K NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 0 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 GGAGGTTTCTAGTTAACTGCA 0.493000 17 32 0 0 0.007413 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515777 47515777 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:47515777C>T ENST00000371901.3 + 12 1711 c.1461C>T c.(1459-1461)ttC>ttT p.F487F CYP4X1_ENST00000538609.1_Silent_p.F486F NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 487 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CTCTTACTTTCCCCAACCATT 0.448000 29 74 0 0 0.007291 0 0 SVEP1 79987 broad.mit.edu 37 9 113173591 113173591 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:113173591G>C ENST00000401783.2 - 37 6736 c.6400C>G c.(6400-6402)Cct>Gct p.P2134A SVEP1_ENST00000374469.1_Missense_Mutation_p.P2111A|SVEP1_ENST00000297826.5_Missense_Mutation_p.P60A NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2134 Sushi 12. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATGGGGGAAGGGTTCCACTGC 0.483000 13 23 0 0 0.001855 0 0 SP140 11262 broad.mit.edu 37 2 231101941 231101941 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:231101941G>A ENST00000392045.3 + 2 317 c.203G>A c.(202-204)cGa>cAa p.R68Q SP140_ENST00000544128.1_3'UTR|SP140_ENST00000373645.3_Missense_Mutation_p.R68Q|SP140_ENST00000417495.3_Missense_Mutation_p.R68Q|SP140_ENST00000486687.2_Missense_Mutation_p.R68Q|SP140_ENST00000420434.3_Missense_Mutation_p.R68Q|SP140_ENST00000350136.5_Missense_Mutation_p.R48Q|SP140_ENST00000343805.6_Missense_Mutation_p.R68Q NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 68 HSR. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ATGGGCCTCCGAGACCGCTCC 0.443000 33 60 0 0 0.006230 0 0 PEMT 10400 broad.mit.edu 37 17 17425608 17425608 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:17425608G>A ENST00000395781.2 - 3 387 c.306C>T c.(304-306)ttC>ttT p.F102F PEMT_ENST00000395783.1_Silent_p.F65F|PEMT_ENST00000395782.1_Silent_p.F65F|PEMT_ENST00000435340.2_Silent_p.F80F|PEMT_ENST00000255389.5_Silent_p.F102F NM_001267552.1 NP_001254481.1 Q9UBM1 PEMT_HUMAN phosphatidylethanolamine N-methyltransferase 65 cell proliferation|phosphatidylcholine biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane phosphatidylethanolamine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(2)|prostate(3) 7 Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891) GCGAGCGCAGGAAGTTCAGGA 0.622000 5 26 0 0 0.001168 0 0 PASD1 139135 broad.mit.edu 37 X 150789486 150789486 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:150789486C>T ENST00000370357.4 + 5 537 c.292C>T c.(292-294)Cct>Tct p.P98S NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 98 PAS. nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TCTCAAATTTCCTTTACTAAA 0.328000 24 16 0 0 0.004656 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444265 5444265 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:5444265G>A ENST00000300778.4 + 1 925 c.835G>A c.(835-837)Gcc>Acc p.A279T HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTTATCATGGCCAATATCTA 0.473000 29 58 0 0 0.008361 0 0 MYPN 84665 broad.mit.edu 37 10 69926302 69926302 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:69926302G>A ENST00000358913.5 + 10 2340 c.1852G>A c.(1852-1854)Gtg>Atg p.V618M MYPN_ENST00000354393.2_Missense_Mutation_p.V343M|MYPN_ENST00000540630.1_Missense_Mutation_p.V618M NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 618 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GGCTGGTGTGGTGACCACCAG 0.577000 22 24 0 0 0.002780 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66989093 66989093 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:66989093G>A ENST00000276570.5 + 4 605 c.318G>A c.(316-318)tcG>tcA p.S106S DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 106 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) TCATGCTGTCGAGCTGGTGGG 0.428000 29 61 0 0 0.008361 0 0 MUSK 4593 broad.mit.edu 37 9 113562887 113562887 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:113562887C>G ENST00000416899.2 + 13 2331 c.2205C>G c.(2203-2205)gaC>gaG p.D735E MUSK_ENST00000189978.5_Missense_Mutation_p.D743E|MUSK_ENST00000374448.4_Missense_Mutation_p.D743E O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 743 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 AAATTGCCGACTTTGGCCTCT 0.483000 55 77 0 0 0.003610 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353966 45353966 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:45353966C>T ENST00000359271.2 + 2 541 c.291C>T c.(289-291)tcC>tcT p.S97S NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 97 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TGGCTGGTTCCCTGGCCTGGC 0.632000 44 31 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 20944721 20944721 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:20944721C>T ENST00000261383.3 - 62 12105 c.12106G>A c.(12106-12108)Gaa>Aaa p.E4036K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 4036 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGGAGAGATTCCCCAATCTGC 0.498000 35 46 0 0 0.004878 0 0 GPR98 84059 broad.mit.edu 37 5 89938791 89938791 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:89938791T>C ENST00000405460.2 + 13 2582 c.2486T>C c.(2485-2487)cTa>cCa p.L829P NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 829 Calx-beta 6. 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) ACGGGAGTACTAGAATTTAAA 0.423000 34 81 0 0 0.004878 0 0 MACF1 23499 broad.mit.edu 37 1 39763377 39763377 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:39763377C>T ENST00000564288.1 + 21 3218 c.2441C>T c.(2440-2442)aCc>aTc p.T814I MACF1_ENST00000539005.1_Missense_Mutation_p.T819I|MACF1_ENST00000567887.1_Missense_Mutation_p.T851I|MACF1_ENST00000545844.1_Missense_Mutation_p.T819I|MACF1_ENST00000361689.2_Missense_Mutation_p.T819I|MACF1_ENST00000317713.7_Missense_Mutation_p.T819I|MACF1_ENST00000372915.3_Missense_Mutation_p.T819I Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 819 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) GACCACAACACCAGCTTATCC 0.463000 29 54 0 0 0.007291 0 0 KCNK10 54207 broad.mit.edu 37 14 88658580 88658580 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:88658580C>T ENST00000340700.5 - 5 1292 c.841G>A c.(841-843)Gat>Aat p.D281N KCNK10_ENST00000312350.5_Missense_Mutation_p.D286N|KCNK10_ENST00000319231.5_Missense_Mutation_p.D286N NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 281 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GCCACAAAATCACCAAAGCCC 0.522000 30 49 0 0 0.002096 0 0 ACTL9 284382 broad.mit.edu 37 19 8808763 8808763 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:8808763A>G ENST00000324436.3 - 1 409 c.289T>C c.(289-291)Ttc>Ctc p.F97L NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 97 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 TCGCCGATGAACGTCTGCAGC 0.692000 6 22 0 0 0.001984 0 0 MEP1A 4224 broad.mit.edu 37 6 46801146 46801146 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:46801146G>A ENST00000230588.4 + 11 1489 c.1480G>A c.(1480-1482)Gat>Aat p.D494N NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 494 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TGGGGAGAACGATGCTATCCT 0.473000 47 101 0 0 0.003610 0 0 PASK 23178 broad.mit.edu 37 2 242072401 242072401 + Nonsense_Mutation SNP G G A rs140101325 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:242072401G>A ENST00000403638.3 - 9 1442 c.1351C>T c.(1351-1353)Cga>Tga p.R451* PASK_ENST00000358649.4_Nonsense_Mutation_p.R451*|PASK_ENST00000234040.4_Nonsense_Mutation_p.R451*|PASK_ENST00000405260.1_Nonsense_Mutation_p.R451*|PASK_ENST00000539818.1_Nonsense_Mutation_p.R235*|PASK_ENST00000544142.1_Nonsense_Mutation_p.R265* NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 451 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) ATCTCATCTCGGGGCACAACG 0.532000 9 47 0 0 0.004482 0 0 TUBB1 81027 broad.mit.edu 37 20 57598904 57598904 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:57598904G>A ENST00000217133.1 + 4 691 c.422G>A c.(421-423)gGg>gAg p.G141E NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 141 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) TCCCTGGGCGGGGGCACAGGC 0.592000 32 103 0 0 0.004289 0 0 FAM49A 81553 broad.mit.edu 37 2 16736355 16736355 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:16736355C>T ENST00000381323.3 - 11 1110 c.890G>A c.(889-891)gGg>gAg p.G297E FAM49A_ENST00000355549.2_Missense_Mutation_p.G297E|FAM49A_ENST00000406434.1_Missense_Mutation_p.G297E NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 297 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) ATTTAGCAGCCCCTCCACACT 0.463000 14 38 0 0 0.003163 0 0 ITGB4 3691 broad.mit.edu 37 17 73728296 73728296 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:73728296G>A ENST00000200181.3 + 12 1617 c.1430G>A c.(1429-1431)gGa>gAa p.G477E ITGB4_ENST00000450894.3_Missense_Mutation_p.G477E|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.G477E|ITGB4_ENST00000449880.2_Missense_Mutation_p.G477E|ITGB4_ENST00000579662.1_Missense_Mutation_p.G477E NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 477 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TTCGTGTGCGGACAGTGTGTG 0.642000 19 36 0 0 0.010504 0 0 KDM3B 51780 broad.mit.edu 37 5 137726747 137726747 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:137726747C>T ENST00000314358.5 + 8 1626 c.1426C>T c.(1426-1428)Ctc>Ttc p.L476F KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Missense_Mutation_p.L132F NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 476 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TGGAGCACCTCTCCCTAGTTC 0.443000 22 67 0 0 0.002299 0 0 TMCC2 9911 broad.mit.edu 37 1 205238338 205238338 + Silent SNP C C T rs145697603 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:205238338C>T ENST00000358024.3 + 3 1397 c.1008C>T c.(1006-1008)ttC>ttT p.F336F TMCC2_ENST00000329800.7_Silent_p.F96F|TMCC2_ENST00000545499.1_Silent_p.F258F|TMCC2_ENST00000330675.7_Silent_p.F111F|TMCC2_ENST00000495538.1_3'UTR NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 336 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) AGCAAGTGTTCGAGAAGAAGA 0.567000 5 19 0 0 0.000602 0 0 OTOP3 347741 broad.mit.edu 37 17 72937888 72937888 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:72937888G>A ENST00000328801.4 + 2 474 c.474G>A c.(472-474)ggG>ggA p.G158G NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 158 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CCCACGCGGGGCCCCTCTGGG 0.682000 4 12 0 0 0.009096 0 0 GBA3 57733 broad.mit.edu 37 4 22749309 22749309 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:22749309C>T ENST00000508166.1 + 0 779 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TCACTTTTTGCGGTCTGGTTG 0.433000 5 148 0 0 0.000602 0 0 CDCP2 200008 broad.mit.edu 37 1 54605439 54605439 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:54605439C>T ENST00000371330.1 - 4 1951 c.1104G>A c.(1102-1104)gtG>gtA p.V368V CDCP2_ENST00000530059.1_5'UTR NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 368 CUB 3. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 CGATGTAGGCCACAGAGAAGC 0.627000 17 33 0 0 0.004990 0 0 NCOA3 8202 broad.mit.edu 37 20 46281213 46281213 + Missense_Mutation SNP C C T rs148634537 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:46281213C>T ENST00000372004.3 + 21 4214 c.3998C>T c.(3997-3999)tCg>tTg p.S1333L NCOA3_ENST00000371998.3_Missense_Mutation_p.S1337L|NCOA3_ENST00000341724.6_Missense_Mutation_p.S1263L|NCOA3_ENST00000371997.3_Missense_Mutation_p.S1328L NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1337 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GCAATGATGTCGTCAAGAATG 0.463000 50 44 0 0 0.003610 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140772779 140772779 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140772779C>T ENST00000398604.2 + 1 399 c.399C>T c.(397-399)ttC>ttT p.F133F PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCAAAATTCCAGGTCGAAG 0.423000 23 59 0 0 0.002780 0 0 SPATS1 221409 broad.mit.edu 37 6 44328265 44328265 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:44328265G>A ENST00000288390.2 + 3 717 c.370G>A c.(370-372)Gat>Aat p.D124N SPATS1_ENST00000323108.8_Missense_Mutation_p.D124N Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 124 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGTCCAAAAGGATAAATATCC 0.478000 23 61 0 0 0.003330 0 0 MYOZ1 58529 broad.mit.edu 37 10 75399722 75399722 + Silent SNP C C T rs113054407 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:75399722C>T ENST00000359322.4 - 2 418 c.54G>A c.(52-54)ctG>ctA p.L18L NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 18 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) GTTCCATGATCAGCTTGCTGG 0.502000 28 35 0 0 0.006320 0 0 AKAP11 11215 broad.mit.edu 37 13 42875185 42875185 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:42875185A>C ENST00000025301.2 + 8 2478 c.2303A>C c.(2302-2304)cAg>cCg p.Q768P NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 768 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ACAGTGCAGCAGGCCTTGTTT 0.448000 29 48 0 0 0.008361 0 0 SLC26A8 116369 broad.mit.edu 37 6 35943165 35943165 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:35943165C>T ENST00000490799.1 - 10 1627 c.1274G>A c.(1273-1275)gGa>gAa p.G425E SLC26A8_ENST00000355574.2_Missense_Mutation_p.G425E|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G320E NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 425 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TTGTCTTCCTCCAGATTTATC 0.338000 7 17 0 0 0.003080 0 0 ZNF480 147657 broad.mit.edu 37 19 52824896 52824896 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:52824896C>T ENST00000490272.1 + 3 201 c.137C>T c.(136-138)cCt>cTt p.P46L ZNF480_ENST00000335090.6_Silent_p.S54S|ZNF480_ENST00000595962.1_Silent_p.S131S|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.S88S Q8WV37 ZN480_HUMAN zinc finger protein 480 161 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) TTGGAGTATCCTTTCACTTAC 0.373000 15 46 0 0 0.004007 0 0 PDE4A 5141 broad.mit.edu 37 19 10577709 10577709 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:10577709C>T ENST00000380702.2 + 16 2007 c.2007C>T c.(2005-2007)ccC>ccT p.P669P PDE4A_ENST00000293683.5_Silent_p.P665P|PDE4A_ENST00000352831.6_Silent_p.P691P|PDE4A_ENST00000592685.1_Silent_p.P669P|PDE4A_ENST00000440014.2_Silent_p.P630P|PDE4A_ENST00000344979.3_Silent_p.P452P P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 691 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CTCCGCCACCCGAGGAGGAGT 0.607000 11 40 0 0 0.000978 0 0 TNIK 23043 broad.mit.edu 37 3 170895115 170895115 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:170895115G>A ENST00000436636.2 - 8 1038 c.694_splice c.e8+1 p.P232_splice TNIK_ENST00000369326.5_Splice_Site_p.P232_splice|TNIK_ENST00000470834.1_Splice_Site_p.P232_splice|TNIK_ENST00000357327.5_Splice_Site_p.P232_splice|TNIK_ENST00000538048.1_Splice_Site_p.P232_splice|TNIK_ENST00000341852.6_Splice_Site_p.P232_splice|TNIK_ENST00000488470.1_Splice_Site_p.P232_splice|TNIK_ENST00000460047.1_Splice_Site_p.P232_splice|TNIK_ENST00000284483.8_Splice_Site_p.P232_splice|TNIK_ENST00000475336.1_Splice_Site_p.P232_splice NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 232 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGGTACTTACGGGGAGCACCT 0.498000 5 9 0 0 0.000602 0 0 TAS2R13 50838 broad.mit.edu 37 12 11061051 11061051 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:11061051G>A ENST00000390677.2 - 1 1110 c.847C>T c.(847-849)Cta>Tta p.L283L PRR4_ENST00000536668.1_Intron NM_023920.2 NP_076409.1 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 283 sensory perception of taste integral to membrane taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GCGTTTCCTAGAATCAGAAGA 0.428000 20 24 0 0 0.010504 0 0 CCDC39 339829 broad.mit.edu 37 3 180359902 180359902 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:180359902G>A ENST00000273654.4 - 19 2624 c.2005C>T c.(2005-2007)Cta>Tta p.L669L CCDC39_ENST00000442201.2_Silent_p.L585L Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 585 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTTTTTTCTAGGGAAAGAACT 0.353000 16 48 0 0 0.003163 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271575 26271575 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:26271575C>T ENST00000305910.3 - 1 37 c.38G>A c.(37-39)gGt>gAt p.G13D NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 13 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 CGCTTTGCCACCGGTGGACTT 0.602000 14 37 0 0 0.003163 0 0 TRIM61 391712 broad.mit.edu 37 4 165891019 165891019 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:165891019C>T ENST00000329314.5 - 3 748 c.136G>A c.(136-138)Gat>Aat p.D46N NM_001012414.2 NP_001012414.1 Q5EBN2 TRI61_HUMAN tripartite motif containing 61 46 intracellular zinc ion binding NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.155) TCATGTAGATCCTTCCAGGAC 0.463000 8 43 0 0 0.008291 0 0 OR8D1 283159 broad.mit.edu 37 11 124179743 124179743 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:124179743C>T ENST00000357821.2 - 1 990 c.920G>A c.(919-921)gGa>gAa p.G307E NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GACTCATTTTCCTACTAAGAC 0.368000 15 31 0 0 0.003163 0 0 MAVS 57506 broad.mit.edu 37 20 3838380 3838380 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:3838380C>T ENST00000428216.2 + 3 344 c.216C>T c.(214-216)ttC>ttT p.F72F MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Silent_p.F72F NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 72 CARD.|Required for interaction with NLRX1. activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 TGGAGTACTTCATTGCGGCAC 0.627000 33 99 0 0 0.006999 0 0 ZZEF1 23140 broad.mit.edu 37 17 3977624 3977624 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:3977624G>A ENST00000381638.2 - 24 3629 c.3505C>T c.(3505-3507)Cct>Tct p.P1169S NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1169 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TGCAACCGAGGACCGGCCTTG 0.502000 OREG0024096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 92 0 0 0.003214 0 0 GRIA1 2890 broad.mit.edu 37 5 153078450 153078450 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:153078450G>A ENST00000285900.5 + 10 1612 c.1269G>A c.(1267-1269)aaG>aaA p.K423K GRIA1_ENST00000518142.1_Silent_p.K343K|GRIA1_ENST00000448073.4_Silent_p.K433K|GRIA1_ENST00000340592.5_Silent_p.K423K|GRIA1_ENST00000518783.1_Silent_p.K433K|GRIA1_ENST00000521843.2_Silent_p.K354K NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 423 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGATGCTCAAGAAGAACGCCA 0.517000 35 75 0 0 0.008740 0 0 DLEC1 9940 broad.mit.edu 37 3 38103711 38103711 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38103711C>T ENST00000308059.6 + 4 746 c.725C>T c.(724-726)tCc>tTc p.S242F DLEC1_ENST00000346219.3_Missense_Mutation_p.S242F|DLEC1_ENST00000452631.2_Missense_Mutation_p.S242F Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 242 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GAGAAGCGTTCCGTCCAGAAG 0.463000 24 59 0 0 0.005443 0 0 C1S 716 broad.mit.edu 37 12 7173934 7173934 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:7173934G>A ENST00000406697.1 + 11 1612 c.984G>A c.(982-984)gtG>gtA p.V328V C1S_ENST00000328916.3_Silent_p.V328V|C1S_ENST00000402681.3_Silent_p.V161V|C1S_ENST00000360817.5_Silent_p.V328V P09871 C1S_HUMAN complement component 1, s subcomponent 328 Sushi 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTGAAGTTGTGGAGGTAAAGT 0.483000 19 21 0 0 0.010504 0 0 PSG5 5673 broad.mit.edu 37 19 43674288 43674288 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:43674288G>A ENST00000599812.1 - 6 1341 c.1246C>T c.(1246-1248)Cct>Tct p.P416S PSG5_ENST00000342951.6_Missense_Mutation_p.P323S|PSG5_ENST00000407356.1_Missense_Mutation_p.P323S|PSG5_ENST00000407568.1_Missense_Mutation_p.P145S|PSG5_ENST00000366175.3_Missense_Mutation_p.P323S Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 323 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ATTCCTGAAGGAGCTGTCATG 0.428000 37 96 0 0 0.007835 0 0 TPT1 7178 broad.mit.edu 37 13 45913690 45913690 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:45913690A>C ENST00000379056.1 - 3 409 c.239T>G c.(238-240)tTt>tGt p.F80C TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000530705.1_Missense_Mutation_p.F114C|TPT1_ENST00000309246.5_Missense_Mutation_p.F114C|TPT1_ENST00000379055.1_Missense_Mutation_p.F80C|TPT1_ENST00000379060.4_Missense_Mutation_p.F102C P13693 TCTP_HUMAN tumor protein, translationally-controlled 1 114 anti-apoptosis|response to virus extracellular space|multivesicular body calcium ion binding|protein binding lung(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000232) CCCTGTCATAAAAGGTTTTAC 0.328000 31 63 0 0 0.003755 0 0 ROGDI 79641 broad.mit.edu 37 16 4847783 4847783 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:4847783G>A ENST00000322048.7 - 10 1132 c.754C>T c.(754-756)Ccc>Tcc p.P252S ROGDI_ENST00000586336.1_5'UTR NM_024589.2 NP_078865.1 Q9GZN7 ROGDI_HUMAN rogdi homolog (Drosophila) 252 intracellular endometrium(2)|lung(1)|ovary(1)|skin(1) 5 TTGAGCCAGGGGATCACGCAC 0.662000 26 51 0 0 0.005443 0 0 DIP2C 22982 broad.mit.edu 37 10 486819 486819 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:486819G>A ENST00000280886.6 - 4 473 c.386C>T c.(385-387)aCc>aTc p.T129I RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Missense_Mutation_p.T22I NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 129 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) ACCTGGAGGGGTGTAGGCGTC 0.587000 17 41 0 0 0.007413 0 0 NEB 4703 broad.mit.edu 37 2 152350316 152350316 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:152350316C>T ENST00000427231.2 - 175 24847 c.24645G>A c.(24643-24645)gtG>gtA p.V8215V NEB_ENST00000397336.2_Silent_p.V190V|NEB_ENST00000603639.1_Silent_p.V8215V|RIF1_ENST00000457745.1_Intron|NEB_ENST00000509223.2_Intron|NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Silent_p.V8215V|NEB_ENST00000172853.10_Silent_p.V6359V|NEB_ENST00000397345.3_Silent_p.V8215V|NEB_ENST00000409198.1_Silent_p.V6359V NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 6518 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GATTGCGTTTCACTCTTTCCA 0.398000 5 9 0 0 0.001168 0 0 NLRP2 55655 broad.mit.edu 37 19 55512191 55512191 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:55512191C>T ENST00000543010.1 + 13 3257 c.3114C>T c.(3112-3114)aaC>aaT p.N1038N NLRP2_ENST00000391721.4_Silent_p.N1014N|NLRP2_ENST00000537859.1_Silent_p.N1016N|NLRP2_ENST00000427260.2_Silent_p.N1015N|NLRP2_ENST00000538819.1_Silent_p.N1014N|NLRP2_ENST00000263437.6_Silent_p.N1035N|NLRP2_ENST00000339757.7_Silent_p.N1016N|NLRP2_ENST00000448584.2_Silent_p.N1038N NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 1038 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AAGAAAAAAACCCACAACTGA 0.413000 16 39 0 0 0.003163 0 0 INPP4A 3631 broad.mit.edu 37 2 99156085 99156085 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:99156085C>T ENST00000074304.5 + 10 1158 c.765C>T c.(763-765)tcC>tcT p.S255S INPP4A_ENST00000523221.1_Silent_p.S255S|INPP4A_ENST00000409851.3_Silent_p.S255S|INPP4A_ENST00000545415.1_Silent_p.S255S|INPP4A_ENST00000409016.3_Silent_p.S255S|INPP4A_ENST00000409540.3_Silent_p.S255S|INPP4A_ENST00000409463.1_Intron NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 255 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 GCGTGCTCTCCCTGCACGTGC 0.567000 24 45 0 0 0.003954 0 0 DNPEP 23549 broad.mit.edu 37 2 220239733 220239733 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:220239733G>A ENST00000273075.4 - 14 1471 c.1251C>T c.(1249-1251)gtC>gtT p.V417V DNPEP_ENST00000523282.1_Silent_p.V425V|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Silent_p.V342V NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 407 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) TGTCATTCCGGACCATGAGAT 0.572000 17 40 0 0 0.006122 0 0 CTNND2 1501 broad.mit.edu 37 5 11023081 11023081 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:11023081G>A ENST00000304623.8 - 17 2988 c.2799C>T c.(2797-2799)gcC>gcT p.A933A CTNND2_ENST00000359640.2_Silent_p.A875A|CTNND2_ENST00000503622.1_Silent_p.A596A|CTNND2_ENST00000511377.1_Silent_p.A842A|CTNND2_ENST00000458100.2_Silent_p.A500A|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 933 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGTCTCGCATGGCGTATTTGC 0.507000 19 33 0 0 0.008871 0 0 CCHCR1 54535 broad.mit.edu 37 6 31122525 31122525 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:31122525G>A ENST00000396268.3 - 4 737 c.549C>T c.(547-549)atC>atT p.I183I CCHCR1_ENST00000396263.2_Silent_p.I94I|CCHCR1_ENST00000376266.5_Silent_p.I94I|CCHCR1_ENST00000451521.2_Silent_p.I147I|CCHCR1_ENST00000480060.1_Intron NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 94 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 GCTGCCGAACGATCACCTCAG 0.642000 12 18 0 0 0.002450 0 0 C9orf84 158401 broad.mit.edu 37 9 114462261 114462261 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:114462261C>T ENST00000394779.3 - 20 3091 c.2847G>A c.(2845-2847)ggG>ggA p.G949G C9orf84_ENST00000394777.4_Silent_p.G914G|C9orf84_ENST00000318737.4_Silent_p.G988G|C9orf84_ENST00000374287.3_Silent_p.G988G NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 988 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CAGAGTTTAGCCCAAATGAAA 0.308000 27 53 0 0 0.009535 0 0 DAB2IP 153090 broad.mit.edu 37 9 124441046 124441046 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:124441046C>T ENST00000408936.3 + 2 396 c.214C>T c.(214-216)Ccg>Tcg p.P72S DAB2IP_ENST00000259371.2_Missense_Mutation_p.P44S Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 72 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGCCGCCACGCCGTTCCGGGT 0.677000 3 3 0 0 0.000602 0 0 PHF3 23469 broad.mit.edu 37 6 64394787 64394787 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:64394787G>A ENST00000262043.3 + 4 1504 c.1164G>A c.(1162-1164)gaG>gaA p.E388E PHF3_ENST00000509330.1_Silent_p.E388E|PHF3_ENST00000393387.1_Silent_p.E388E Q92576 PHF3_HUMAN PHD finger protein 3 388 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) ATAAAACTGAGAACACCCTTG 0.378000 20 58 0 0 0.008871 0 0 MAP10 54627 broad.mit.edu 37 1 232943543 232943543 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:232943543C>T ENST00000418460.1 + 1 2901 c.2774C>T c.(2773-2775)aCt>aTt p.T925I NM_019090.2 NP_061963.2 microtubule-associated protein 10 ATTTCAAAGACTCAGGATAAA 0.363000 18 39 0 0 0.007413 0 0 UBC 7316 broad.mit.edu 37 12 125397113 125397113 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:125397113G>A ENST00000536769.1 - 1 2781 c.1205C>T c.(1204-1206)aCc>aTc p.T402I UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.T326I|UBC_ENST00000339647.5_Missense_Mutation_p.T402I P0CG48 UBC_HUMAN ubiquitin C 402 Ubiquitin-like 6. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) ATTCTCAATGGTGTCACTCGG 0.542000 78 166 0 0 0.003610 0 0 MYH13 8735 broad.mit.edu 37 17 10212617 10212617 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10212617C>T ENST00000418404.3 - 34 5266 c.5103G>A c.(5101-5103)cgG>cgA p.R1701R MYH13_ENST00000570743.1_Silent_p.R1701R|MYH13_ENST00000252172.4_Silent_p.R1701R Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1701 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCCTGCGGGTCCGCTCCGTCT 0.657000 15 16 0 0 0.007413 0 0 KIAA1109 84162 broad.mit.edu 37 4 123161272 123161272 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:123161272C>T ENST00000264501.4 + 29 4808 c.4435C>T c.(4435-4437)Cta>Tta p.L1479L KIAA1109_ENST00000388738.3_Silent_p.L1479L|KIAA1109_ENST00000455637.1_Silent_p.L1479L Q2LD37 K1109_HUMAN KIAA1109 1479 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TATAGAACATCTATATATTGT 0.403000 16 32 0 0 0.004007 0 0 ATCAY 85300 broad.mit.edu 37 19 3907802 3907802 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:3907802G>A ENST00000450849.2 + 5 896 c.429G>A c.(427-429)acG>acA p.T143T ATCAY_ENST00000398448.3_Silent_p.T149T|ATCAY_ENST00000600960.1_Silent_p.T143T|ATCAY_ENST00000301260.6_Silent_p.T143T NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 143 transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) ACGGCACGACGGAGGACGGCA 0.637000 27 47 0 0 0.002096 0 0 GALNT8 26290 broad.mit.edu 37 12 4829865 4829865 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:4829865C>T ENST00000252318.2 + 1 359 c.22C>T c.(22-24)Ccc>Tcc p.P8S RP11-234B24.6_ENST00000544741.2_Intron NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 8 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GAGGAAACTCCCCAAAGCCCT 0.502000 21 60 0 0 0.003330 0 0 ATP2A2 488 broad.mit.edu 37 12 110784064 110784064 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:110784064C>T ENST00000395494.2 + 19 3400 c.2837C>T c.(2836-2838)tCc>tTc p.S946F ATP2A2_ENST00000308664.6_Missense_Mutation_p.S973F|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S973F P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 973 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CTGAAAATCTCCTTGCCCGTG 0.562000 22 32 0 0 0.003954 0 0 UNK 85451 broad.mit.edu 37 17 73818612 73818612 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:73818612C>T ENST00000293218.3 + 15 2120 c.2120C>T c.(2119-2121)tCc>tTc p.S707F UNK_ENST00000589666.1_Missense_Mutation_p.S631F Q9C0B0 UNK_HUMAN unkempt family zinc finger 631 nucleic acid binding|zinc ion binding p.S631C(1)|p.S707C(1) cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GGAAGCTTCTCCCCGGGCACT 0.617000 18 97 0 0 0.010504 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A C rs121913377 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:140453136A>C ENST00000288602.6 - 15 1859 c.1799T>G c.(1798-1800)gTg>gGg p.V600G NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 54 23 0 0 0.003610 0 0 SEPHS1 22929 broad.mit.edu 37 10 13380732 13380732 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:13380732G>A ENST00000327347.5 - 3 645 c.270C>T c.(268-270)taC>taT p.Y90Y SEPHS1_ENST00000545675.1_Silent_p.Y90Y|SEPHS1_ENST00000378614.4_Silent_p.Y90Y|SEPHS1_ENST00000537130.1_Silent_p.Y23Y|SEPHS1_ENST00000494329.1_5'UTR NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 90 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 CTACGATCGGGTAAATGTAAT 0.468000 37 107 0 0 0.008740 0 0 ANKAR 150709 broad.mit.edu 37 2 190593090 190593090 + Missense_Mutation SNP G G A rs139078107 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:190593090G>A ENST00000520309.1 + 14 3063 c.2975G>A c.(2974-2976)gGa>gAa p.G992E ANKAR_ENST00000431575.2_Missense_Mutation_p.G921E|ANKAR_ENST00000313581.4_Missense_Mutation_p.G992E|ANKAR_ENST00000281412.6_Missense_Mutation_p.G767E|ANKAR_ENST00000438402.2_Missense_Mutation_p.G992E NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 992 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GAACAAATTGGATACAGCTTT 0.323000 18 25 0 0 0.001882 0 0 CHST12 55501 broad.mit.edu 37 7 2472524 2472524 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:2472524C>T ENST00000258711.6 + 2 385 c.250C>T c.(250-252)Ccc>Tcc p.P84S NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 84 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) GAGCGACCTTCCCAGAAAGGA 0.677000 23 40 0 0 0.003954 0 0 LIFR 3977 broad.mit.edu 37 5 38506097 38506097 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:38506097G>T ENST00000263409.4 - 9 1363 c.1201C>A c.(1201-1203)Cca>Aca p.P401T LIFR_ENST00000453190.2_Missense_Mutation_p.P401T|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 401 Fibronectin type-III 2. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TCTTGATTTGGAAGCATTTGA 0.289000 T PLAG1 salivary adenoma 24 70 2.98393e-07 3.43796e-07 0.002780 1 0 NPY5R 4889 broad.mit.edu 37 4 164271582 164271582 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:164271582C>T ENST00000515560.1 + 4 1679 c.157C>T c.(157-159)Ctt>Ttt p.L53F NPY5R_ENST00000506953.1_Missense_Mutation_p.L53F|NPY5R_ENST00000338566.3_Missense_Mutation_p.L53F Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 53 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) ATTTGTAAGTCTTCTTGGCTT 0.398000 42 42 0 0 0.006999 0 0 PTGS1 5742 broad.mit.edu 37 9 125144005 125144005 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:125144005G>A ENST00000362012.2 + 7 746 c.741G>A c.(739-741)aaG>aaA p.K247K PTGS1_ENST00000540753.1_Silent_p.K222K|PTGS1_ENST00000373698.5_Silent_p.K138K|PTGS1_ENST00000223423.4_Silent_p.K247K NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 247 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) GGCTCTTTAAGGATGGGAAAC 0.587000 19 17 0 0 0.003954 0 0 A2ML1 144568 broad.mit.edu 37 12 8995744 8995744 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:8995744G>A ENST00000299698.7 + 12 1443 c.1263G>A c.(1261-1263)atG>atA p.M421I NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 265 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 AGTTTCAAATGGAAGACTTAG 0.453000 22 40 0 0 0.002299 0 0 MIR646HG 284757 broad.mit.edu 37 20 58883623 58883623 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:58883623G>A ENST00000432910.1 + 0 332 MIR646_ENST00000385067.1_RNA NR_046099.1 caggctcagtggcctatcttt 0.572000 28 41 0 0 0.008361 0 0 LECT2 3950 broad.mit.edu 37 5 135283183 135283183 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:135283183A>T ENST00000274507.1 - 4 493 c.293T>A c.(292-294)tTt>tAt p.F98Y LECT2_ENST00000471827.1_Intron|LECT2_ENST00000512872.1_Missense_Mutation_p.F26Y|LECT2_ENST00000522943.1_Intron|FBXL21_ENST00000467490.1_RNA NM_002302.2 NP_002293.2 O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 98 chemotaxis|skeletal system development cytoplasm|extracellular space large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTGACACAAAAACCTAAAAG 0.274000 10 26 0 0 0.000978 0 0 SERPINC1 462 broad.mit.edu 37 1 173883957 173883957 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:173883957G>A ENST00000367698.3 - 2 260 c.142C>T c.(142-144)Ccc>Tcc p.P48S SERPINC1_ENST00000494024.1_5'UTR NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 48 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GGATTCATGGGAATGTCCCGC 0.572000 OREG0013990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 105 0 0 0.007291 0 0 IL1R1 3554 broad.mit.edu 37 2 102781425 102781425 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:102781425C>T ENST00000410023.1 + 4 571 c.253C>T c.(253-255)Cct>Tct p.P85S IL1R1_ENST00000233946.3_Missense_Mutation_p.P85S|IL1R1_ENST00000409329.1_Missense_Mutation_p.P85S|IL1R1_ENST00000424272.1_Missense_Mutation_p.P85S|IL1R1_ENST00000409929.1_Missense_Mutation_p.P85S|IL1R1_ENST00000409589.1_Missense_Mutation_p.P85S|IL1R1_ENST00000409288.1_Missense_Mutation_p.P85S P14778 IL1R1_HUMAN interleukin 1 receptor, type I 85 Ig-like C2-type 1. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) TTGGTTTGTTCCTGCTAAGGT 0.398000 9 36 0 0 0.008291 0 0 FRMD1 79981 broad.mit.edu 37 6 168479606 168479606 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:168479606G>A ENST00000283309.6 - 1 233 c.169C>T c.(169-171)Ctc>Ttc p.L57F NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 57 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AGCAGCACGAGGACATCCCTG 0.677000 32 54 0 0 0.003755 0 0 MUC17 140453 broad.mit.edu 37 7 100686068 100686068 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:100686068G>A ENST00000306151.4 + 3 11435 c.11371G>A c.(11371-11373)Ggc>Agc p.G3791S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3791 Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGCCTCTGAAGGCAGTTCATC 0.468000 90 34 0 0 0.003610 0 0 EHBP1 23301 broad.mit.edu 37 2 63175992 63175992 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:63175992A>C ENST00000263991.5 + 14 2598 c.2116A>C c.(2116-2118)Aag>Cag p.K706Q EHBP1_ENST00000405015.3_Missense_Mutation_p.K671Q|EHBP1_ENST00000431489.1_Missense_Mutation_p.K671Q|EHBP1_ENST00000405289.1_Missense_Mutation_p.K671Q|EHBP1_ENST00000354487.3_Missense_Mutation_p.K671Q NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 706 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TAGTGATAAGAAGAAGGATAT 0.358000 8 25 0 0 0.003080 0 0 TARBP1 6894 broad.mit.edu 37 1 234595032 234595032 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:234595032G>A ENST00000040877.1 - 8 1575 c.1576C>T c.(1576-1578)Ctg>Ttg p.L526L NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 526 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GCCCCTCTCAGGAGAATCTGA 0.373000 10 52 0 0 0.001368 0 0 TIMD4 91937 broad.mit.edu 37 5 156378700 156378700 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:156378700G>A ENST00000274532.2 - 3 558 c.502C>T c.(502-504)Cca>Tca p.P168S TIMD4_ENST00000407087.3_Missense_Mutation_p.P168S NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 168 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACTGTTGTTGGAAGTGCAGCT 0.527000 268 596 0 0 0.003610 0 0 FMO3 2328 broad.mit.edu 37 1 171076868 171076868 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:171076868G>A ENST00000367755.4 + 4 485 c.374G>A c.(373-375)tGg>tAg p.W125* FMO3_ENST00000542847.1_Nonsense_Mutation_p.W105*|FMO3_ENST00000538429.1_Nonsense_Mutation_p.W62*|FMO3_ENST00000392085.2_Nonsense_Mutation_p.W125* NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 125 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACTGGCCAGTGGGATGTTACC 0.398000 9 34 0 0 0.004482 0 0 NCKAP5 344148 broad.mit.edu 37 2 133751808 133751808 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:133751808C>T ENST00000409261.1 - 7 719 c.346G>A c.(346-348)Gaa>Aaa p.E116K NCKAP5_ENST00000409213.1_Missense_Mutation_p.E116K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E116K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E116K NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 116 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 ACTGTTTCTTCCATCCTGAGA 0.343000 6 8 0 0 0.001168 0 0 CADM2 253559 broad.mit.edu 37 3 85984956 85984956 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:85984956C>T ENST00000383699.3 + 7 1367 c.740C>T c.(739-741)cCa>cTa p.P247L CADM2_ENST00000407528.2_Missense_Mutation_p.P238L|CADM2_ENST00000405615.2_Missense_Mutation_p.P240L NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 238 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) ACTCCTTTTCCACAAGAAGGA 0.284000 41 96 0 0 0.003214 0 0 MUC4 4585 broad.mit.edu 37 3 195517627 195517627 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:195517627C>T ENST00000463781.3 - 2 1283 c.824G>A c.(823-825)gGa>gAa p.G275E MUC4_ENST00000475231.1_Missense_Mutation_p.G275E|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 280 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) CCCTGGGTTTCCAAGAGTGGA 0.473000 26 41 0 0 0.005443 0 0 LSM11 134353 broad.mit.edu 37 5 157178438 157178438 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:157178438C>T ENST00000286307.5 + 2 545 c.489C>T c.(487-489)atC>atT p.I163I NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 163 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATCGCTGTATCCGTGAGGGGG 0.493000 20 61 0 0 0.007413 0 0 ZFAND3 60685 broad.mit.edu 37 6 38029534 38029534 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:38029534C>T ENST00000287218.4 + 3 725 c.278C>T c.(277-279)tCa>tTa p.S93L ZFAND3_ENST00000373391.2_Missense_Mutation_p.S93L NM_021943.2 NP_068762.1 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 93 DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1) 9 AATGTAACTTCACCGAGTAAA 0.488000 21 23 0 0 0.001882 0 0 C3orf30 152405 broad.mit.edu 37 3 118867108 118867108 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:118867108G>A ENST00000295622.1 + 2 1520 c.1480G>A c.(1480-1482)Gaa>Aaa p.E494K RP11-484M3.5_ENST00000490594.1_Intron NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 494 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) TATAGTTTATGAAGATCCTTA 0.338000 21 44 0 0 0.001882 0 0 LMNA 4000 broad.mit.edu 37 1 156084913 156084913 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:156084913G>A ENST00000368300.4 + 1 416 c.204G>A c.(202-204)gaG>gaA p.E68E LMNA_ENST00000347559.2_Silent_p.E68E|LMNA_ENST00000368301.2_Silent_p.E68E|LMNA_ENST00000361308.4_Silent_p.E68E|LMNA_ENST00000368299.3_Silent_p.E68E NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 68 Coil 1A.|Interaction with MLIP.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) AGTCTGAAGAGGTGGTCAGCC 0.652000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 47 231 0 0 0.003610 0 0 OTOP3 347741 broad.mit.edu 37 17 72943385 72943385 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:72943385G>A ENST00000328801.4 + 6 1435 c.1435G>A c.(1435-1437)Gag>Aag p.E479K NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 479 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CCCACTCTGGGAGACAGTTCC 0.667000 11 11 0 0 0.000978 0 0 AK9 221264 broad.mit.edu 37 6 109867252 109867252 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:109867252A>C ENST00000424296.2 - 26 3119 c.3043T>G c.(3043-3045)Tta>Gta p.L1015V AK9_ENST00000355283.1_Missense_Mutation_p.L94V|AK9_ENST00000341338.6_Missense_Mutation_p.L94V NM_001145128.2 NP_001138600.2 adenylate kinase 9 AAAATGTTTAATTTTTCTGCC 0.428000 5 157 0 0 0.001984 0 0 CABIN1 23523 broad.mit.edu 37 22 24456554 24456554 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:24456554A>G ENST00000398319.2 + 12 1952 c.1567A>G c.(1567-1569)Acc>Gcc p.T523A CABIN1_ENST00000405822.2_Missense_Mutation_p.T473A|CABIN1_ENST00000263119.5_Missense_Mutation_p.T523A NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 523 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GAGGCACAGCACCAGCCTGCC 0.612000 17 37 0 0 0.007413 0 0 ISL1 3670 broad.mit.edu 37 5 50685493 50685493 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:50685493C>T ENST00000230658.7 + 4 1077 c.492C>T c.(490-492)tcC>tcT p.S164S ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.S164S NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 164 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) AGCCCATCTCCGCCAGGCAGC 0.726000 7 19 0 0 0.003080 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54905611 54905611 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:54905611G>A ENST00000293373.6 + 8 839 c.760G>A c.(760-762)Gaa>Aaa p.E254K NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E204K|NCKAP1L_ENST00000552211.1_3'UTR NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 254 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TCTGTCTGTGGAAGTAATGGA 0.403000 29 60 0 0 0.003755 0 0 PI4KB 5298 broad.mit.edu 37 1 151288331 151288331 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:151288331G>A ENST00000368875.2 - 3 1243 c.663C>T c.(661-663)tcC>tcT p.S221S PI4KB_ENST00000368874.4_Silent_p.S209S|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Silent_p.S209S|PI4KB_ENST00000368873.1_Silent_p.S209S|PI4KB_ENST00000271657.5_Silent_p.S221S NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 209 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CACACTGGAGGGAAAAGTTAA 0.522000 13 58 0 0 0.002450 0 0 TCTE1 202500 broad.mit.edu 37 6 44249942 44249942 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:44249942C>T ENST00000371505.4 - 4 1323 c.1201G>A c.(1201-1203)Gag>Aag p.E401K TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 401 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCAGACAGCTCATTGCCACCG 0.597000 22 62 0 0 0.002299 0 0 CCDC129 223075 broad.mit.edu 37 7 31617906 31617906 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:31617906C>G ENST00000409210.1 + 6 936 c.752C>G c.(751-753)cCg>cGg p.P251R CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.P369R|CCDC129_ENST00000407970.3_Missense_Mutation_p.P343R Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 343 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TCATCTATGCCGGCCAAGCAG 0.498000 9 43 0 0 0.006214 0 0 ATR 545 broad.mit.edu 37 3 142278242 142278242 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:142278242G>A ENST00000350721.4 - 7 1704 c.1583C>T c.(1582-1584)cCt>cTt p.P528L ATR_ENST00000383101.3_Missense_Mutation_p.P464L NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 528 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CACTACAGAAGGTTTCTTCTT 0.348000 Other conserved DNA damage response genes 15 41 0 0 0.004007 0 0 OR52N2 390077 broad.mit.edu 37 11 5841606 5841606 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:5841606T>A ENST00000317037.2 + 1 63 c.41T>A c.(40-42)tTt>tAt p.F14Y TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F14C(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCAGGATTCTTTATCTTGAAT 0.512000 30 41 0 0 0.002096 0 0 EPS15 2060 broad.mit.edu 37 1 51831680 51831680 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:51831680A>T ENST00000371733.3 - 22 2237 c.2141T>A c.(2140-2142)gTt>gAt p.V714D EPS15_ENST00000371730.2_Missense_Mutation_p.V580D|EPS15_ENST00000396122.4_Missense_Mutation_p.V391D NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 714 15 X 3 AA repeats of D-P-F. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 ATTCCCAAAAACAGAAGCAAA 0.368000 T MLL ALL 17 33 0 0 0.002780 0 0 KY 339855 broad.mit.edu 37 3 134329038 134329038 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:134329038G>A ENST00000508956.1 - 8 892 c.836_splice c.e8+1 p.L279_splice KY_ENST00000503669.1_Splice_Site_p.L300_splice|KY_ENST00000423778.2_Splice_Site_p.L300_splice Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 300 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 AGTACTTACAGGAAGGTGAAT 0.592000 28 62 0 0 0.003271 0 0 PPP1R32 220004 broad.mit.edu 37 11 61254688 61254688 + Missense_Mutation SNP G G A rs146588175 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:61254688G>A ENST00000338608.2 + 11 1144 c.1019G>A c.(1018-1020)cGa>cAa p.R340Q PPP1R32_ENST00000432063.2_Missense_Mutation_p.R320Q NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 340 AGGGATCAGCGATACCTGACC 0.532000 31 103 0 0 0.009535 0 0 TARSL2 123283 broad.mit.edu 37 15 102215839 102215839 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:102215839G>A ENST00000335968.3 - 13 1968 c.1752C>T c.(1750-1752)ttC>ttT p.F584F NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 584 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCTCTCCTAGGAAGTTTTCCG 0.423000 73 131 0 0 0.003610 0 0 VCL 7414 broad.mit.edu 37 10 75867093 75867093 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:75867093C>T ENST00000211998.4 + 17 2634 c.2540C>T c.(2539-2541)cCa>cTa p.P847L VCL_ENST00000372755.3_Missense_Mutation_p.P847L|VCL_ENST00000417648.2_Intron NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 847 Linker (Pro-rich).|Pro-rich. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) CCGCCTCCACCAGACCTTGAA 0.502000 15 32 0 0 0.004990 0 0 GPX5 2880 broad.mit.edu 37 6 28501755 28501755 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:28501755C>T ENST00000412168.2 + 5 566 c.477C>T c.(475-477)ccC>ccT p.P159P GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 159 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) GTCCTCATCCCTCTGAGATTT 0.453000 65 138 0 0 0.003610 0 0 DCLK1 9201 broad.mit.edu 37 13 36700119 36700119 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:36700119G>A ENST00000255448.4 - 2 367 c.156C>T c.(154-156)tcC>tcT p.S52S DCLK1_ENST00000360631.3_Silent_p.S52S|DCLK1_ENST00000379892.4_Silent_p.S52S NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 52 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CCTTCTTCTCGGAGCTGAGCG 0.582000 12 50 0 0 0.001368 0 0 ANKH 56172 broad.mit.edu 37 5 14711411 14711411 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:14711411C>G ENST00000284268.6 - 12 1704 c.1374G>C c.(1372-1374)aaG>aaC p.K458N ANKH_ENST00000535119.1_Missense_Mutation_p.K260N NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 458 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CATTCTCCATCTTCTTTTTCT 0.552000 49 127 0 0 0.003610 0 0 RSPH3 83861 broad.mit.edu 37 6 159420903 159420903 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:159420903G>A ENST00000252655.1 - 1 295 c.106C>T c.(106-108)Cct>Tct p.P36S RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000297262.3_Missense_Mutation_p.P36S NM_031924.4 NP_114130.3 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 36 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) GCGGCACAAGGGACTTCCGGC 0.692000 11 37 0 0 0.008291 0 0 NME8 51314 broad.mit.edu 37 7 37936528 37936528 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:37936528G>A ENST00000199447.4 + 17 1973 c.1601G>A c.(1600-1602)cGa>cAa p.R534Q EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R534Q NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 534 NDK 3. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity GAATGGAGACGATTGATGGGC 0.458000 30 74 0 0 0.008361 0 0 PNLIP 5406 broad.mit.edu 37 10 118314748 118314748 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:118314748C>T ENST00000369221.2 + 7 658 c.630C>T c.(628-630)ccC>ccT p.P210P NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 210 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GATTGGACCCCAGCGATGCCA 0.483000 6 21 0 0 0.001168 0 0 SPTA1 6708 broad.mit.edu 37 1 158592842 158592842 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:158592842C>G ENST00000368148.3 - 43 6231 c.6051G>C c.(6049-6051)tgG>tgC p.W2017C SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.W2014C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2017 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCAACTGTTCCCAGCGCTTCA 0.478000 114 173 0 0 0.003610 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744132 140744132 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140744132C>T ENST00000518069.1 + 1 235 c.235C>T c.(235-237)Ccg>Tcg p.P79S PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCCTGAACCCGCGAAGCGG 0.617000 20 67 0 0 0.001882 0 0 OR51F2 119694 broad.mit.edu 37 11 4843076 4843076 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:4843076G>A ENST00000322110.5 + 1 526 c.461G>A c.(460-462)cGa>cAa p.R154Q MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCAATGCCCGAATTGCCAAG 0.463000 80 133 0 0 0.003610 0 0 BSN 8927 broad.mit.edu 37 3 49694838 49694838 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:49694838G>A ENST00000296452.4 + 5 7963 c.7849G>A c.(7849-7851)Gaa>Aaa p.E2617K NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2617 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GACGGACGACGAAGACAGTGC 0.652000 23 26 0 0 0.003330 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722282 58722282 + Missense_Mutation SNP C C T rs151204927 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:58722282C>T ENST00000300079.5 + 5 369 c.319C>T c.(319-321)Cgt>Tgt p.R107C GLYATL1_ENST00000317391.4_Missense_Mutation_p.R76C|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 76 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) AAACGTATATCGTATGTTCTC 0.383000 7 32 0 0 0.003080 0 0 FXYD4 53828 broad.mit.edu 37 10 43871008 43871008 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:43871008C>T ENST00000476166.1 + 6 493 c.159C>T c.(157-159)atC>atT p.I53I FXYD4_ENST00000480834.1_3'UTR NM_173160.2 NP_775183.1 P59646 FXYD4_HUMAN FXYD domain containing ion transport regulator 4 53 integral to membrane NS(1)|large_intestine(1)|lung(3) 5 TTGCTGGGATCGCGGCAGTTC 0.627000 21 28 0 0 0.001882 0 0 MUC16 94025 broad.mit.edu 37 19 9060306 9060306 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9060306C>T ENST00000397910.4 - 3 27343 c.27140G>A c.(27139-27141)aGc>aAc p.S9047N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9049 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGATCAGGGCTAGGTCCTCT 0.493000 17 51 0 0 0.004007 0 0 ASIC2 40 broad.mit.edu 37 17 31438965 31438965 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:31438965C>T ENST00000225823.2 - 2 1701 c.829G>A c.(829-831)Gat>Aat p.D277N ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Missense_Mutation_p.D226N|RP11-40A13.1_ENST00000584688.1_RNA NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 226 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) AGGTACTCATCCTGCTGAATG 0.587000 11 61 0 0 0.000978 0 0 SLC39A10 57181 broad.mit.edu 37 2 196581390 196581390 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:196581390C>T ENST00000409086.3 + 7 2001 c.1726C>T c.(1726-1728)Cga>Tga p.R576* SLC39A10_ENST00000541054.1_Nonsense_Mutation_p.R126*|SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.R576* NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 576 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TTCTGAAGATCGACTTAATGA 0.328000 15 42 0 0 0.006122 0 0 SLC25A20 788 broad.mit.edu 37 3 48921519 48921519 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:48921519G>A ENST00000319017.4 - 3 435 c.237C>T c.(235-237)atC>atT p.I79I SLC25A20_ENST00000544097.1_Silent_p.I29I|SLC25A20_ENST00000430379.1_Intron NM_000387.5 NP_000378.1 O43772 MCAT_HUMAN solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 79 carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation integral to membrane|mitochondrial inner membrane acyl carnitine transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) L-Carnitine(DB00583) TGACCCCGATGATAGGGGCAG 0.488000 31 50 0 0 0.008361 0 0 EEFSEC 60678 broad.mit.edu 37 3 127965788 127965788 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:127965788C>T ENST00000254730.6 + 2 480 c.426C>T c.(424-426)gtC>gtT p.V142V EEFSEC_ENST00000483457.1_Silent_p.V142V NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 142 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 AGAAGCTGGTCGTGGTGCTGA 0.483000 70 153 0 0 0.003610 0 0 SYCP2L 221711 broad.mit.edu 37 6 10928656 10928656 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:10928656C>T ENST00000283141.6 + 18 1757 c.1461C>T c.(1459-1461)ttC>ttT p.F487F SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 487 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) tccctccgttcggggtccctg 0.463000 15 39 0 0 0.002450 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307553 46307553 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:46307553G>A ENST00000221538.3 - 3 1752 c.1610C>T c.(1609-1611)tCc>tTc p.S537F RSPH6A_ENST00000600188.1_Missense_Mutation_p.S273F|RSPH6A_ENST00000597055.1_Missense_Mutation_p.S537F NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 537 Glu-rich. intracellular p.S537C(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GTTGGCCATGGAGTCGACCAG 0.662000 29 42 0 0 0.009535 0 0 CADPS2 93664 broad.mit.edu 37 7 121960387 121960387 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:121960387G>A ENST00000334010.7 - 28 4138 c.3717C>T c.(3715-3717)acC>acT p.T1239T CADPS2_ENST00000313070.7_Silent_p.T1200T|CADPS2_ENST00000412584.2_Silent_p.T1200T|CADPS2_ENST00000449022.2_Silent_p.T1241T NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 1241 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 AGTCCCTGTAGGTTTTCTGAA 0.398000 161 69 0 0 0.003610 0 0 FARP1 10160 broad.mit.edu 37 13 99047618 99047618 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:99047618C>T ENST00000376586.2 + 13 1638 c.1302C>T c.(1300-1302)ccC>ccT p.P434P FARP1_ENST00000319562.6_Silent_p.P434P|FARP1_ENST00000595437.1_Silent_p.P434P Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 434 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GGAGAAGCCCCGCGGGTAACA 0.692000 10 16 0 0 0.006214 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146741041 146741041 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:146741041G>A ENST00000361727.3 + 4 961 c.445G>A c.(445-447)Gaa>Aaa p.E149K NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 149 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGTCCGGCACGAATTACAGCA 0.423000 HNSCC(39;0.1) 24 94 0 0 0.005443 0 0 TGM6 343641 broad.mit.edu 37 20 2376014 2376014 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:2376014C>T ENST00000202625.2 + 3 417 c.356C>T c.(355-357)tCc>tTc p.S119F TGM6_ENST00000381423.1_Missense_Mutation_p.S119F|TGM6_ENST00000477505.1_Intron NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 119 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) ATCAGGCTTTCCTCTCACCGC 0.562000 26 96 0 0 0.009535 0 0 KRT34 3885 broad.mit.edu 37 17 39535320 39535320 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:39535320G>A ENST00000394001.1 - 6 1141 c.1111C>T c.(1111-1113)Cgc>Tgc p.R371C NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 371 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) AGGTCACAGCGGATCTCTGCC 0.622000 25 57 0 0 0.004656 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559046 1559046 + Missense_Mutation SNP C C T rs145977289 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:1559046C>T ENST00000381605.4 - 2 435 c.371G>A c.(370-372)cGg>cAg p.R124Q SIRPB1_ENST00000262929.5_Missense_Mutation_p.R123Q|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R124Q|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R124Q NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 124 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GCTCCCTTTCCGGAACTTCAC 0.542000 65 123 0 0 0.003610 0 0 UXS1 80146 broad.mit.edu 37 2 106746178 106746178 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:106746178G>A ENST00000283148.7 - 7 626 c.529C>T c.(529-531)Cct>Tct p.P177S UXS1_ENST00000409032.1_Missense_Mutation_p.P4S|UXS1_ENST00000540130.1_Missense_Mutation_p.P115S|UXS1_ENST00000409501.3_Missense_Mutation_p.P172S|UXS1_ENST00000428048.2_Intron NM_001253875.1|NM_025076.4 NP_001240804.1|NP_079352.2 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 172 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 GTCTTGATAGGATTATACATG 0.378000 6 21 0 0 0.004482 0 0 FBXO40 51725 broad.mit.edu 37 3 121340651 121340651 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:121340651G>A ENST00000338040.4 + 3 789 c.375G>A c.(373-375)ttG>ttA p.L125L NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 125 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AGGAGTGTTTGGACACAGCCC 0.512000 22 37 0 0 0.010504 0 0 RGAG1 57529 broad.mit.edu 37 X 109696046 109696046 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:109696046C>T ENST00000465301.2 + 3 2447 c.2201C>T c.(2200-2202)tCg>tTg p.S734L RGAG1_ENST00000540313.1_Missense_Mutation_p.S734L NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 734 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 ATGTCCATGTCGCCCATGAAG 0.527000 24 26 0 0 0.005443 0 0 OR6C1 390321 broad.mit.edu 37 12 55714790 55714790 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:55714790G>A ENST00000379668.2 + 1 445 c.407G>A c.(406-408)cGa>cAa p.R136Q NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 ATCATGAATCGAAGAGTCTGC 0.433000 9 18 0 0 0.006214 0 0 FGGY 55277 broad.mit.edu 37 1 59844482 59844482 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:59844482C>T ENST00000371218.4 + 5 711 c.527C>T c.(526-528)tCg>tTg p.S176L FGGY_ENST00000303721.7_Missense_Mutation_p.S176L|FGGY_ENST00000371212.1_Missense_Mutation_p.S88L|FGGY_ENST00000474476.1_3'UTR NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 176 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) GACTTCTTATCGTGGAAGGCA 0.393000 10 31 0 0 0.008291 0 0 PIGG 54872 broad.mit.edu 37 4 520864 520864 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:520864C>T ENST00000453061.2 + 10 2212 c.2106C>T c.(2104-2106)gcC>gcT p.A702A PIGG_ENST00000310340.5_Silent_p.A694A|PIGG_ENST00000504346.1_Silent_p.A613A|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.A569A NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 702 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity p.L689_A694delLSVLAA(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 TCCTGGCTGCCCTCTCCCTCC 0.567000 5 19 0 0 0.001168 0 0 KCNQ5 56479 broad.mit.edu 37 6 73879567 73879567 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:73879567C>T ENST00000342056.2 + 12 2022 c.1624C>T c.(1624-1626)Cga>Tga p.R542* KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.R533*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.R523*|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.R524*|KCNQ5_ENST00000370398.1_Nonsense_Mutation_p.R523*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.R514* NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 523 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AACTGTCATTCGAGCTATCAG 0.393000 15 26 0 0 0.003163 0 0 GLI1 2735 broad.mit.edu 37 12 57860059 57860059 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:57860059G>A ENST00000228682.2 + 8 890 c.799G>A c.(799-801)Gag>Aag p.E267K GLI1_ENST00000543426.1_Missense_Mutation_p.E139K|GLI1_ENST00000546141.1_Missense_Mutation_p.E226K NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 267 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) GGAGCGGAAGGAGTTCGTGTG 0.597000 62 145 0 0 0.003610 0 0 BACH2 60468 broad.mit.edu 37 6 90642519 90642519 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:90642519C>T ENST00000257749.4 - 9 2841 c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K BACH2_ENST00000343122.3_Missense_Mutation_p.E712K|BACH2_ENST00000537989.1_Missense_Mutation_p.E712K NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 712 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CGGCAAACTTCCTGGGAAAGG 0.532000 23 40 0 0 0.001882 0 0 KCTD16 57528 broad.mit.edu 37 5 143586873 143586873 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:143586873C>T ENST00000507359.2 + 2 1687 c.596C>T c.(595-597)tCc>tTc p.S199F KCTD16_ENST00000512467.1_Missense_Mutation_p.S199F NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 199 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GGAAGGATTTCCTTGGCAAAA 0.468000 24 35 0 0 0.002299 0 0 IGLV2-33 28811 broad.mit.edu 37 22 22931039 22931039 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:22931039G>A ENST00000390302.2 + 0 292 GGCCTTCAGGGATCTCTGACC 0.498000 89 198 0 0 0.003610 0 0 DOCK2 1794 broad.mit.edu 37 5 169468063 169468063 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:169468063C>T ENST00000256935.8 + 37 3750 c.3670C>T c.(3670-3672)Ctg>Ttg p.L1224L DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L716L|DOCK2_ENST00000540750.1_Silent_p.L285L NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1224 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAACAGGTACCTGTACAAACT 0.522000 16 47 0 0 0.004990 0 0 SUV39H2 79723 broad.mit.edu 37 10 14939205 14939205 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:14939205G>A ENST00000313519.5 + 2 589 c.358G>A c.(358-360)Gga>Aga p.G120R SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.G180R NM_001193425.1|NM_024670.3 NP_001180354.1|NP_078946.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) 180 cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 ACCAGCTCCTGGAATCAGCTT 0.368000 32 60 0 0 0.003271 0 0 WDR81 124997 broad.mit.edu 37 17 1637434 1637434 + Silent SNP C C T rs150462855 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:1637434C>T ENST00000409644.1 + 7 5103 c.5103C>T c.(5101-5103)ttC>ttT p.F1701F WDR81_ENST00000309182.5_Silent_p.F650F|WDR81_ENST00000446363.1_Silent_p.F340F|WDR81_ENST00000419248.1_Silent_p.F474F|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Silent_p.F332F|WDR81_ENST00000437219.2_Silent_p.F498F NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 474 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGAGCGTCTTCTTCGTGGGCC 0.677000 19 17 0 0 0.010504 0 0 ZNF133 7692 broad.mit.edu 37 20 18295809 18295809 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:18295809C>T ENST00000377671.3 + 7 870 c.311C>T c.(310-312)cCc>cTc p.P104L ZNF133_ENST00000396026.3_Missense_Mutation_p.P108L|ZNF133_ENST00000316358.4_Missense_Mutation_p.P105L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.P105L|ZNF133_ENST00000402618.2_Missense_Mutation_p.P42L|ZNF133_ENST00000535822.1_Missense_Mutation_p.P10L|ZNF133_ENST00000538547.1_Missense_Mutation_p.P10L NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 105 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 AATCATCCCCCCTGGATCTTC 0.577000 36 76 0 0 0.003755 0 0 KRT73 319101 broad.mit.edu 37 12 53010152 53010152 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:53010152C>T ENST00000305748.3 - 2 494 c.460G>A c.(460-462)Gag>Aag p.E154K NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 154 Coil 1A.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TTCTGCTGCTCCAGGAACCGC 0.522000 23 46 0 0 0.003330 0 0 KAT6A 7994 broad.mit.edu 37 8 41832276 41832276 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:41832276G>A ENST00000396930.3 - 9 1971 c.1428C>T c.(1426-1428)atC>atT p.I476I KAT6A_ENST00000406337.1_Silent_p.I476I|KAT6A_ENST00000485568.1_Silent_p.I476I|KAT6A_ENST00000265713.2_Silent_p.I476I NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 476 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TCTCAGTCATGATTTCCTGGC 0.398000 19 45 0 0 0.006122 0 0 DIS3 22894 broad.mit.edu 37 13 73350187 73350187 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:73350187G>A ENST00000377767.4 - 5 798 c.698C>T c.(697-699)cCc>cTc p.P233L DIS3_ENST00000545453.1_Missense_Mutation_p.P71L|DIS3_ENST00000377780.4_Missense_Mutation_p.P203L NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 233 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) CTTACTTAAGGGAAGATGCTC 0.353000 Multiple Myeloma(4;0.011) 11 16 0 0 0.000978 0 0 ADAM28 10863 broad.mit.edu 37 8 24200644 24200644 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:24200644G>A ENST00000265769.4 + 17 1971 c.1861G>A c.(1861-1863)Gag>Aag p.E621K RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.E368K|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 621 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TGTGGATATTGAGAAAGCCTA 0.378000 21 45 0 0 0.003330 0 0 IGHV3-74 28408 broad.mit.edu 37 14 107218782 107218782 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:107218782G>A ENST00000424969.2 - 0 480 GCCCTTCACGGAGTCCGCGTA 0.542000 53 118 0 0 0.003610 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517200 158517200 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:158517200C>T ENST00000302617.3 - 1 695 c.696G>A c.(694-696)agG>agA p.R232R NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) CAGAAGGGATCCTGAGGATGG 0.527000 14 59 0 0 0.002450 0 0 PLCL2 23228 broad.mit.edu 37 3 17053022 17053022 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:17053022C>T ENST00000418129.2 + 2 2271 c.1806C>T c.(1804-1806)ctC>ctT p.L602L PLCL2_ENST00000396755.2_Silent_p.L602L|PLCL2_ENST00000432376.1_Silent_p.L602L NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 728 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GCTATGTCCTCCGGCCAGCCA 0.488000 19 42 0 0 0.010504 0 0 TBX19 9095 broad.mit.edu 37 1 168282184 168282184 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:168282184G>A ENST00000367821.3 + 8 1342 c.1291G>A c.(1291-1293)Ggc>Agc p.G431S TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 431 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) TCCCTTCGCGGGCTGGGGTGG 0.617000 6 41 0 0 0.004482 0 0 ERBB2 2064 broad.mit.edu 37 17 37873615 37873615 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:37873615C>T ENST00000406381.2 + 17 2200 c.1690C>T c.(1690-1692)Ccc>Tcc p.P564S ERBB2_ENST00000445658.2_Missense_Mutation_p.P318S|ERBB2_ENST00000540042.1_Missense_Mutation_p.P564S|ERBB2_ENST00000584601.1_Missense_Mutation_p.P564S|ERBB2_ENST00000584450.1_Missense_Mutation_p.P594S|ERBB2_ENST00000269571.5_Missense_Mutation_p.P594S|ERBB2_ENST00000578199.1_Missense_Mutation_p.P564S|ERBB2_ENST00000540147.1_Missense_Mutation_p.P564S|ERBB2_ENST00000541774.1_Missense_Mutation_p.P579S NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 594 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TAAGGACCCTCCCTTCTGCGT 0.632000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 5 32 0 0 0.000602 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024225 55024225 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:55024225C>T ENST00000324000.3 + 3 2418 c.384C>T c.(382-384)caC>caT p.H128H NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 128 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) AACTGATGCACTATGATTATT 0.318000 8 59 0 0 0.006214 0 0 E2F3 1871 broad.mit.edu 37 6 20490506 20490506 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:20490506C>T ENST00000346618.3 + 7 1309 c.1243C>T c.(1243-1245)Cct>Tct p.P415S E2F3_ENST00000535432.1_Missense_Mutation_p.P284S NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 415 Transactivation (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) GGACCAAATTCCTTCCAACCT 0.522000 168 313 0 0 0.003610 0 0 C2orf78 388960 broad.mit.edu 37 2 74043122 74043122 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:74043122G>A ENST00000409561.1 + 3 1893 c.1772G>A c.(1771-1773)gGg>gAg p.G591E NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 591 Lys-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 AAGCAGTCAGGGAAAAAAGTC 0.443000 10 24 0 0 0.008291 0 0 ATF4 468 broad.mit.edu 37 22 39918324 39918324 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:39918324C>T ENST00000337304.2 + 2 1655 c.773C>T c.(772-774)cCc>cTc p.P258L ATF4_ENST00000396680.1_Missense_Mutation_p.P258L|ATF4_ENST00000404241.2_Missense_Mutation_p.P258L NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 258 P -> A (in dbSNP:rs1803323). cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) TCTGCCCGTCCCAAACCTTAC 0.517000 9 23 0 0 0.001368 0 0 WDR59 79726 broad.mit.edu 37 16 74990485 74990485 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:74990485T>C ENST00000262144.6 - 3 258 c.128A>G c.(127-129)aAt>aGt p.N43S WDR59_ENST00000562331.1_5'UTR NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 43 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 GGCATCTAGATTGACGATGTA 0.408000 12 19 0 0 0.001368 0 0 SLC6A5 9152 broad.mit.edu 37 11 20623094 20623094 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:20623094G>A ENST00000525748.1 + 2 696 c.423G>A c.(421-423)ctG>ctA p.L141L NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 141 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AGGGCACCCTGGAGCGGAACA 0.662000 15 28 0 0 0.004007 0 0 MUC16 94025 broad.mit.edu 37 19 9065788 9065788 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9065788C>T ENST00000397910.4 - 3 21861 c.21658G>A c.(21658-21660)Gat>Aat p.D7220N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7222 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACAGTTGTATCCTCCTGGGTG 0.488000 70 130 0 0 0.003610 0 0 PDHA2 5161 broad.mit.edu 37 4 96761622 96761622 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:96761622C>T ENST00000295266.4 + 1 384 c.321C>T c.(319-321)aaC>aaT p.N107N NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 107 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCGGCATAAACCCCTCGGATC 0.522000 19 89 0 0 0.007413 0 0 TAOK2 9344 broad.mit.edu 37 16 29998174 29998174 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:29998174A>T ENST00000308893.4 + 16 3624 c.2581A>T c.(2581-2583)Att>Ttt p.I861F TAOK2_ENST00000543033.1_Missense_Mutation_p.I748F|TAOK2_ENST00000416441.2_Missense_Mutation_p.I688F|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 861 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GGAGAGGAGCATTGTTGGCCA 0.577000 11 21 0 0 0.000978 0 0 KIF25 3834 broad.mit.edu 37 6 168431510 168431510 + Silent SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:168431510C>A ENST00000443060.2 + 4 541 c.150C>A c.(148-150)ctC>ctA p.L50L KIF25_ENST00000354419.2_Silent_p.L50L|KIF25_ENST00000351261.3_Silent_p.L50L Q9UIL4 KIF25_HUMAN kinesin family member 25 50 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCCCCCTACTCACTTCTCTCT 0.423000 33 72 1.06647e-15 1.23518e-15 0.003755 1 0 ATG4C 84938 broad.mit.edu 37 1 63299789 63299789 + Splice_Site SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:63299789T>C ENST00000317868.4 + 8 1219 c.e8+2 ATG4C_ENST00000371120.3_Splice_Site NM_032852.3 NP_116241.2 Q96DT6 ATG4C_HUMAN autophagy related 4C, cysteine peptidase autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity ATG4C/FBXO38(2) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2) 19 GATTTCAAGGTTAGTGATTTA 0.308000 24 56 0 0 0.002780 0 0 RGAG4 340526 broad.mit.edu 37 X 71350719 71350719 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:71350719G>A ENST00000545866.1 - 1 1039 c.672C>T c.(670-672)atC>atT p.I224I NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Silent_p.I224I Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 224 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) ATTCCTTACGGATTTCATCCA 0.567000 30 20 0 0 0.009535 0 0 ROBO2 6092 broad.mit.edu 37 3 77666749 77666749 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:77666749G>A ENST00000461745.1 + 22 4279 c.3379G>A c.(3379-3381)Gat>Aat p.D1127N ROBO2_ENST00000487694.3_Missense_Mutation_p.D1143N|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.D1127N NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1127 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGAAGATGATGATAGGGTCCC 0.488000 18 73 0 0 0.006122 0 0 IGHG4 3503 broad.mit.edu 37 14 106091498 106091498 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:106091498C>T ENST00000390543.2 - 0 395 TCCGGGAGATCATGAGAGTGT 0.602000 19 119 0 0 0.002299 0 0 PDCD1LG2 80380 broad.mit.edu 37 9 5534921 5534921 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:5534921G>A ENST00000397747.3 + 3 480 c.232G>A c.(232-234)Gag>Aag p.E78K PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.E78K NM_025239.3 NP_079515.2 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 78 Ig-like V-type. immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(2)|lung(4)|prostate(2) 8 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) TTTGCTGGAGGAGCAGCTGCC 0.512000 117 28 0 0 0.003610 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18762521 18762521 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:18762521G>A ENST00000433979.1 + 30 4133 c.4017G>A c.(4015-4017)gaG>gaA p.E1339E PIK3C2G_ENST00000538779.1_Silent_p.E1380E|PIK3C2G_ENST00000266497.5_Silent_p.E1339E NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1339 C2. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity p.E1339E(1)|p.V1340V(1) breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TATCCTACGAGGATGTGAAGC 0.363000 4 9 0 0 0.000602 0 0 BCAS3 54828 broad.mit.edu 37 17 58988023 58988023 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:58988023T>G ENST00000589222.1 + 12 1021 c.953T>G c.(952-954)aTc>aGc p.I318S BCAS3_ENST00000588874.1_Missense_Mutation_p.I89S|BCAS3_ENST00000585744.1_Missense_Mutation_p.I89S|BCAS3_ENST00000588462.1_Missense_Mutation_p.I318S|BCAS3_ENST00000408905.3_Missense_Mutation_p.I318S|BCAS3_ENST00000390652.5_Missense_Mutation_p.I318S|BCAS3_ENST00000407086.3_Missense_Mutation_p.I318S Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 318 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GTCCCAGGCATCATCACAGTT 0.493000 11 74 0 0 0.003163 0 0 SH2D5 400745 broad.mit.edu 37 1 21049398 21049398 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:21049398G>A ENST00000375031.1 - 8 1291 c.667C>T c.(667-669)Ctg>Ttg p.L223L SH2D5_ENST00000444387.2_Silent_p.L307L|SH2D5_ENST00000460804.1_5'UTR NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 223 SH2. lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AACAGGGCCAGGGCACAGGGC 0.662000 5 14 0 0 0.001984 0 0 PNPLA6 10908 broad.mit.edu 37 19 7625908 7625908 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:7625908C>T ENST00000221249.6 + 33 4142 c.3711C>T c.(3709-3711)gcC>gcT p.A1237A PNPLA6_ENST00000600737.1_Silent_p.A1275A|PNPLA6_ENST00000545201.2_Silent_p.A1210A|PNPLA6_ENST00000450331.3_Silent_p.A1237A|PNPLA6_ENST00000414982.3_Silent_p.A1285A NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 1276 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 AGGTGCTTGCCTTCCCAAGCT 0.637000 4 16 0 0 0.000602 0 0 RFC4 5984 broad.mit.edu 37 3 186515359 186515359 + Silent SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:186515359T>A ENST00000392481.2 - 4 536 c.255A>T c.(253-255)acA>acT p.T85T RFC4_ENST00000433496.1_Silent_p.T85T|RFC4_ENST00000296273.2_Silent_p.T85T NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 85 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) AAATAGTGGATGTTTTTCCAG 0.328000 24 57 0 0 0.005443 0 0 C5orf42 65250 broad.mit.edu 37 5 37181013 37181013 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:37181013G>A ENST00000274258.7 - 27 5746 c.2159C>T c.(2158-2160)cCa>cTa p.P720L C5orf42_ENST00000508244.1_Missense_Mutation_p.P1839L|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1839L E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1839 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) AGTTCCACCTGGAGTTGCTAC 0.403000 11 28 0 0 0.001368 0 0 YIPF4 84272 broad.mit.edu 37 2 32517334 32517334 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:32517334G>A ENST00000238831.3 + 3 568 c.322G>A c.(322-324)Gtg>Atg p.V108M NM_032312.3 NP_115688.1 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 108 endoplasmic reticulum|integral to membrane protein binding kidney(2)|lung(3)|prostate(3)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) TAATAGACAAGTGGTGAGAGA 0.343000 10 35 0 0 0.000978 0 0 OR5B3 441608 broad.mit.edu 37 11 58170239 58170239 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:58170239G>A ENST00000309403.2 - 1 643 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAATGTGTAGGATATCAAGAT 0.403000 12 30 0 0 0.001368 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767855 77767855 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:77767855G>A ENST00000521891.2 + 10 9146 c.8698G>A c.(8698-8700)Gaa>Aaa p.E2900K ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2855K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2855K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2874K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2855 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CGACCGCAGCGAAACGTCCAG 0.512000 HNSCC(33;0.089) 10 34 0 0 0.008291 0 0 DNAH17 8632 broad.mit.edu 37 17 76498998 76498998 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:76498998C>T ENST00000389840.5 - 32 5164 c.5040G>A c.(5038-5040)agG>agA p.R1680R DNAH17_ENST00000585328.1_Silent_p.R1681R|DNAH17-AS1_ENST00000598378.1_3'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCCACTGCTCCCTCGGCTTCT 0.627000 4 28 0 0 0.000602 0 0 FOLH1 2346 broad.mit.edu 37 11 49179553 49179553 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:49179553C>T ENST00000340334.7 - 15 1806 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K FOLH1_ENST00000343844.4_Missense_Mutation_p.E187K|FOLH1_ENST00000533034.1_Missense_Mutation_p.E480K|FOLH1_ENST00000256999.2_Missense_Mutation_p.E495K|FOLH1_ENST00000356696.3_Missense_Mutation_p.E495K NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 495 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTCCAACTTTCATAAAGAGAT 0.348000 13 31 0 0 0.010504 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48143184 48143184 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:48143184G>A ENST00000405493.2 - 10 1113 c.904C>T c.(904-906)Cgt>Tgt p.R302C RAPGEF3_ENST00000449771.2_Missense_Mutation_p.R344C|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.R344C|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.R344C|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.R302C|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.R302C|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.R302C NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 302 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TTGATGATACGGTTGAAGTCC 0.582000 20 52 0 0 0.002299 0 0 LCA5 167691 broad.mit.edu 37 6 80223162 80223162 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:80223162G>A ENST00000392959.1 - 4 1098 c.487C>T c.(487-489)Cgt>Tgt p.R163C LCA5_ENST00000369846.4_Missense_Mutation_p.R163C|LCA5_ENST00000467898.2_Missense_Mutation_p.R163C NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 163 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TTGTTATGACGAAATATAAGT 0.353000 27 61 0 0 0.006320 0 0 SSX6 280657 broad.mit.edu 37 X 47969935 47969935 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:47969935C>T ENST00000376932.2 + 3 212 c.138C>T c.(136-138)atC>atT p.I46I SSX6_ENST00000319275.3_5'UTR large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 CGGAGAAAATCAGCTGTGTGC 0.408000 19 10 0 0 0.001882 0 0 MUC16 94025 broad.mit.edu 37 19 9054339 9054339 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9054339C>T ENST00000397910.4 - 4 31486 c.31283G>A c.(31282-31284)gGc>gAc p.G10428D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10430 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCCATAATGCCATCAGTTCC 0.463000 8 18 0 0 0.004482 0 0 CP 1356 broad.mit.edu 37 3 148897413 148897413 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:148897413C>T ENST00000264613.6 - 15 2853 c.2591G>A c.(2590-2592)aGa>aAa p.R864K NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 864 F5/8 type A 3.|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) AGCTCCAGATCTTTCTGGGAT 0.363000 17 24 0 0 0.008871 0 0 TIGD3 220359 broad.mit.edu 37 11 65123717 65123717 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:65123717C>T ENST00000309880.5 + 2 645 c.438C>T c.(436-438)ccC>ccT p.P146P NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 146 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 CTTCATTCCCCCCTGAGCCAC 0.617000 35 78 0 0 0.003271 0 0 DCAF6 55827 broad.mit.edu 37 1 167944107 167944107 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:167944107T>G ENST00000367840.3 + 4 386 c.292T>G c.(292-294)Ttt>Gtt p.F98V DCAF6_ENST00000367843.3_Missense_Mutation_p.F98V|DCAF6_ENST00000312263.6_Missense_Mutation_p.F98V|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.F67V NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 98 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 AGCAAACATATTTAGTGCAAA 0.338000 10 47 0 0 0.001368 0 0 CYP4F2 8529 broad.mit.edu 37 19 15990703 15990703 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:15990703C>T ENST00000221700.5 - 10 1215 c.1120G>A c.(1120-1122)Gac>Aac p.D374N CYP4F2_ENST00000592328.1_Missense_Mutation_p.D374N NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 374 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGGGCCAGGTCGTCCCTAAGG 0.557000 33 93 0 0 0.005524 0 0 GPR115 221393 broad.mit.edu 37 6 47684583 47684583 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:47684583G>A ENST00000283303.2 + 7 2232 c.1974_splice c.e7+1 p.K658_splice GPR115_ENST00000327753.3_Splice_Site_p.K658_splice|GPR115_ENST00000371220.1_Splice_Site_p.K715_splice NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 658 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TGGATCACAAGGTAATTTGAA 0.408000 22 38 0 0 0.002299 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57872369 57872369 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:57872369C>T ENST00000393797.2 - 6 893 c.701G>A c.(700-702)aGa>aAa p.R234K ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R242K|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R163K|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R163K|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R163K Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 163 WW. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) GGAGAGGGATCTTCCGCTTGG 0.577000 38 79 0 0 0.006230 0 0 ANKRD45 339416 broad.mit.edu 37 1 173628349 173628349 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:173628349A>T ENST00000333279.2 - 2 269 c.209T>A c.(208-210)cTc>cAc p.L70H NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 86 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 TTCTTCTAAGAGAAGCTGCAT 0.453000 15 55 0 0 0.002450 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141461084 141461084 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:141461084G>A ENST00000389328.4 - 2 697 c.683C>T c.(682-684)aCc>aTc p.T228I TRAPPC9_ENST00000438773.2_Missense_Mutation_p.T130I|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.T130I NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 130 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 AGCCACGTCGGTGCGCGGCTG 0.577000 12 30 0 0 0.001855 0 0 IL20RB 53833 broad.mit.edu 37 3 136677029 136677029 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:136677029C>T ENST00000329582.4 + 1 323 c.74C>T c.(73-75)cCa>cTa p.P25L IL20RB_ENST00000309741.5_5'UTR|IL20RB_ENST00000484501.1_3'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 25 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GCATTGATTCCATGTTTGCTC 0.388000 17 59 0 0 0.007413 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958842 50958842 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:50958842C>T ENST00000357701.5 + 20 2330 c.2279C>T c.(2278-2280)cCg>cTg p.P760L NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 760 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TGGAGGCCTCCGAACAGGATC 0.597000 28 69 0 0 0.008361 0 0 BAHD1 22893 broad.mit.edu 37 15 40751535 40751535 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:40751535C>T ENST00000561234.1 + 2 1131 c.872C>T c.(871-873)cCa>cTa p.P291L BAHD1_ENST00000416165.1_Missense_Mutation_p.P291L|BAHD1_ENST00000560846.1_Missense_Mutation_p.P291L Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 291 Pro-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CCTTGTGGGCCATCCGTCCAG 0.667000 10 45 0 0 0.006214 0 0 OR51G2 81282 broad.mit.edu 37 11 4936874 4936874 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:4936874C>T ENST00000322013.3 - 1 48 c.20G>A c.(19-21)gGa>gAa p.G7E MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTGCTGTTTCCCAGGGATCC 0.547000 21 40 0 0 0.008871 0 0 PALLD 23022 broad.mit.edu 37 4 169632945 169632945 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:169632945G>A ENST00000335742.7 + 10 2046 c.689G>A c.(688-690)gGa>gAa p.G230E PALLD_ENST00000512127.1_Missense_Mutation_p.G230E|PALLD_ENST00000261509.6_Missense_Mutation_p.G612E|PALLD_ENST00000505667.1_Missense_Mutation_p.G612E Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 612 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GAAACGAACGGAGTCCATCCC 0.493000 Pancreatic Cancer, Familial Clustering of 14 52 0 0 0.001855 0 0 MED25 81857 broad.mit.edu 37 19 50331794 50331794 + Missense_Mutation SNP C C G rs137859678 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:50331794C>G ENST00000312865.6 + 4 447 c.394C>G c.(394-396)Cgc>Ggc p.R132G MED25_ENST00000538643.1_Intron NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 132 Interaction with the Mediator complex. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) CAAGAAGATGCGCGAGCAGAT 0.622000 32 59 0 0 0.009535 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922701 17922701 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:17922701G>A ENST00000318683.6 + 3 1036 c.889G>A c.(889-891)Gat>Aat p.D297N B3GNT3_ENST00000595387.1_Missense_Mutation_p.D297N NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 297 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 CCCCATTGATGATGTCTTCCT 0.627000 33 95 0 0 0.004289 0 0 APOC3 345 broad.mit.edu 37 11 116701499 116701499 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:116701499G>A ENST00000375345.1 + 3 182 c.120G>A c.(118-120)gaG>gaA p.E40E APOC3_ENST00000227667.3_Silent_p.E22E|APOC3_ENST00000470144.1_3'UTR P02656 APOC3_HUMAN apolipoprotein C-III 22 Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding endometrium(1)|lung(6) 7 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GAGCTTCAGAGGCCGAGGATG 0.622000 62 119 0 0 0.003610 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21541322 21541322 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:21541322G>A ENST00000298694.4 + 2 249 c.122G>A c.(121-123)cGg>cAg p.R41Q ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R41Q Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 41 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 AGGACTTATCGGGAGGACGCA 0.607000 12 25 0 0 0.001855 0 0 ATP8B3 148229 broad.mit.edu 37 19 1783131 1783131 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:1783131C>T ENST00000539485.1 - 29 4062 c.3829G>A c.(3829-3831)Ggc>Agc p.G1277S ATP8B3_ENST00000310127.6_Missense_Mutation_p.G1267S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.G1230S O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1267 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 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) AGAATTGTGCCCTGAGTGATG 0.562000 8 10 0 0 0.006214 0 0 TCF20 6942 broad.mit.edu 37 22 42611304 42611304 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:42611304G>A ENST00000359486.3 - 1 144 c.8C>T c.(7-9)tCc>tTc p.S3F TCF20_ENST00000335626.4_Missense_Mutation_p.S3F NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTCCCGAAAGGACTGCATACT 0.507000 36 75 0 0 0.005524 0 0 KCNF1 3754 broad.mit.edu 37 2 11053729 11053729 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:11053729T>G ENST00000295082.1 + 1 1667 c.1177T>G c.(1177-1179)Tgt>Ggt p.C393G NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 393 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CAGCTTCTTGTGTGGTGTCAT 0.597000 9 34 0 0 0.004482 0 0 TAS2R43 259289 broad.mit.edu 37 12 11244107 11244107 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:11244107T>C ENST00000531678.1 - 1 805 c.722A>G c.(721-723)tAc>tGc p.Y241C PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176884.2 NP_795365.2 P59537 T2R43_HUMAN taste receptor, type 2, member 43 241 detection of chemical stimulus involved in sensory perception of bitter taste cilium membrane|motile cilium bitter taste receptor activity endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) GGACAGAAAGTAAATGGCACA 0.403000 74 56 0 0 0.003610 0 0 MYH7 4625 broad.mit.edu 37 14 23891523 23891523 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:23891523G>A ENST00000355349.3 - 25 3273 c.3111C>T c.(3109-3111)tcC>tcT p.S1037S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1037 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) CTTGCTCCAGGGATCCTTCCA 0.552000 21 36 0 0 0.002299 0 0 VWA8 23078 broad.mit.edu 37 13 42393413 42393413 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:42393413A>T ENST00000379310.3 - 15 1878 c.1810T>A c.(1810-1812)Ttt>Att p.F604I VWA8_ENST00000281496.6_Missense_Mutation_p.F604I NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TAATGGAAAAAGAACATGGTT 0.403000 11 35 0 0 0.000978 0 0 RP1L1 94137 broad.mit.edu 37 8 10480260 10480260 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:10480260G>A ENST00000382483.3 - 2 675 c.452C>T c.(451-453)cCc>cTc p.P151L RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 151 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TATCCTCCGGGGGGTTTTAAG 0.582000 29 62 0 0 0.008361 0 0 PIK3R4 30849 broad.mit.edu 37 3 130452892 130452892 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:130452892G>A ENST00000356763.3 - 4 1507 c.950C>T c.(949-951)cCt>cTt p.P317L NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 317 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 AAATATTTCAGGAAAGGCATT 0.423000 34 68 0 0 0.002445 0 0 KIAA0196 9897 broad.mit.edu 37 8 126044520 126044520 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:126044520C>T ENST00000318410.7 - 27 3647 c.3298G>A c.(3298-3300)Ggc>Agc p.G1100S KIAA0196_ENST00000517845.1_Missense_Mutation_p.G952S NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 1100 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) ATAAACTGGCCAATCAGCGCC 0.537000 36 92 0 0 0.003755 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780804 106780804 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:106780804C>T ENST00000390612.2 - 0 131 GCAGCTGCACCTGGGACAGGA 0.587000 19 47 0 0 0.003330 0 0 PKD1 5310 broad.mit.edu 37 16 2140185 2140185 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:2140185T>C ENST00000262304.4 - 46 12663 c.12455A>G c.(12454-12456)aAa>aGa p.K4152R PKD1_ENST00000423118.1_Missense_Mutation_p.K4151R NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4152 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AAAGCGGACTTTGTGGCGGAA 0.701000 40 35 0 0 0.003214 0 0 MYO1F 4542 broad.mit.edu 37 19 8620543 8620543 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:8620543G>A ENST00000338257.8 - 2 408 c.141_splice c.e2+1 p.F47_splice NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 47 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCCAGGGTACGAAGATGTAGT 0.617000 26 63 0 0 0.002445 0 0 CD300LG 146894 broad.mit.edu 37 17 41939175 41939175 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:41939175G>A ENST00000317310.4 + 7 936 c.895G>A c.(895-897)Gaa>Aaa p.E299K NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 299 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GACTGCGGAGGAAAAGGAAGC 0.602000 7 24 0 0 0.003080 0 0 SLC7A1 6541 broad.mit.edu 37 13 30090380 30090380 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:30090380G>A ENST00000380752.5 - 12 2067 c.1681C>T c.(1681-1683)Ccc>Tcc p.P561S NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 561 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GGCAGGAAGGGAACCTGAAGA 0.537000 4 26 0 0 0.009096 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409001 56409001 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:56409001C>T ENST00000544374.1 - 1 946 c.918G>A c.(916-918)aaG>aaA p.K306K OR5AP2_ENST00000302981.1_Silent_p.K305K Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 TCTTTAGGGCCTTTTTTACAT 0.343000 6 31 0 0 0.001984 0 0 LY75 4065 broad.mit.edu 37 2 160729002 160729002 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:160729002C>T ENST00000263636.4 - 13 2104 c.2077G>A c.(2077-2079)Gaa>Aaa p.E693K LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E693K|LY75_ENST00000553424.1_Missense_Mutation_p.E693K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E693K|LY75_ENST00000554112.1_Missense_Mutation_p.E693K NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TCCTTTATTTCATCCACATGG 0.378000 34 76 0 0 0.003271 0 0 FOXN4 121643 broad.mit.edu 37 12 109719441 109719441 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:109719441G>A ENST00000299162.5 - 9 1169 c.1065C>T c.(1063-1065)tcC>tcT p.S355S FOXN4_ENST00000355216.1_Silent_p.S175S NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 355 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 CTGACTGCAGGGACAGGGTCA 0.687000 4 10 0 0 0.009096 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214074 140214074 + Missense_Mutation SNP C C T rs141682483 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140214074C>T ENST00000525929.1 + 1 106 c.106C>T c.(106-108)Ccc>Tcc p.P36S PCDHA7_ENST00000378125.3_Missense_Mutation_p.P36S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACTCGGTCCCCGAGGAGGC 0.627000 33 70 0 0 0.002445 0 0 LY75 4065 broad.mit.edu 37 2 160708785 160708785 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:160708785G>A ENST00000263636.4 - 21 2837 c.2810C>T c.(2809-2811)tCg>tTg p.S937L LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S937L|LY75_ENST00000553424.1_Missense_Mutation_p.S937L|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S937L|LY75_ENST00000554112.1_Missense_Mutation_p.S937L NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TTTCTCTAACGAAGAAACATT 0.373000 17 41 0 0 0.004007 0 0 CCDC148 130940 broad.mit.edu 37 2 159195377 159195377 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:159195377C>T ENST00000283233.5 - 7 938 c.625G>A c.(625-627)Gaa>Aaa p.E209K CCDC148_ENST00000536771.1_Missense_Mutation_p.E123K|CCDC148_ENST00000409187.1_Missense_Mutation_p.E218K|CCDC148_ENST00000409889.1_Missense_Mutation_p.E209K NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 209 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 ATGGGCAGTTCACTAAGCGGG 0.303000 18 56 0 0 0.002299 0 0 DUSP7 1849 broad.mit.edu 37 3 52084953 52084953 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:52084953C>T ENST00000495880.1 - 3 1321 c.1138G>A c.(1138-1140)Gac>Aac p.D380N DUSP7_ENST00000296483.6_Missense_Mutation_p.D329N Q16829 DUS7_HUMAN dual specificity phosphatase 7 380 inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CGCTCAAAGTCCAGCAGCTGC 0.552000 30 43 0 0 0.003755 0 0 RIT2 6014 broad.mit.edu 37 18 40323574 40323574 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:40323574C>T ENST00000326695.5 - 5 709 c.538G>A c.(538-540)Gaa>Aaa p.E180K RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR NM_002930.2 NP_002921.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 180 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity p.E180K(1) endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTGCGAATTTCCCTCACTAAG 0.423000 27 59 0 0 0.006320 0 0 CFTR 1080 broad.mit.edu 37 7 117292956 117292956 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:117292956G>A ENST00000003084.6 + 24 4066 c.3934G>A c.(3934-3936)Gat>Aat p.D1312N CFTR_ENST00000454343.1_Missense_Mutation_p.D1251N NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1312 ABC transporter 2. 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) ACAGTGGAGTGATCAAGAAAT 0.333000 Cystic Fibrosis 80 35 0 0 0.003610 0 0 MYO5B 4645 broad.mit.edu 37 18 47511087 47511087 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:47511087C>T ENST00000285039.7 - 8 1246 c.e8+1 NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AAGCTCCTTACCGAGGAGTGT 0.552000 9 41 0 0 0.008291 0 0 CRLF1 9244 broad.mit.edu 37 19 18710608 18710608 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:18710608G>A ENST00000392386.3 - 2 357 c.164C>T c.(163-165)tCc>tTc p.S55F NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 55 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 GGCCAGCAGGGAGGAGCCGAT 0.677000 10 13 0 0 0.006214 0 0 DST 667 broad.mit.edu 37 6 56479171 56479171 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:56479171G>A ENST00000370754.5 - 36 4941 c.4942C>T c.(4942-4944)Ccc>Tcc p.P1648S DST_ENST00000370788.2_Missense_Mutation_p.P1470S|DST_ENST00000421834.2_Missense_Mutation_p.P1470S|DST_ENST00000361203.3_Missense_Mutation_p.P1470S|DST_ENST00000312431.6_Missense_Mutation_p.P1470S|DST_ENST00000446842.2_Missense_Mutation_p.P1144S|DST_ENST00000244364.6_Missense_Mutation_p.P1144S|DST_ENST00000370769.4_Missense_Mutation_p.P1470S Q03001 DYST_HUMAN dystonin 1470 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) TTAGAGAAGGGAGGTTTTCCA 0.358000 12 46 0 0 0.001855 0 0 PROKR2 128674 broad.mit.edu 37 20 5282926 5282926 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:5282926G>A ENST00000546004.1 - 3 1161 c.915C>T c.(913-915)ttC>ttT p.F305F PROKR2_ENST00000217270.3_Silent_p.F305F Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 305 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TTTCCTTCACGAACACAGTGG 0.537000 HNSCC(71;0.22) 30 56 0 0 0.008361 0 0 IGSF21 84966 broad.mit.edu 37 1 18661444 18661444 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:18661444G>A ENST00000251296.1 + 4 747 c.364G>A c.(364-366)Gac>Aac p.D122N NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 122 Ig-like 1. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GGGCATCTACGACCGCGCCAC 0.622000 15 30 0 0 0.003163 0 0 ZC3H12D 340152 broad.mit.edu 37 6 149783087 149783087 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:149783087A>C ENST00000389942.5 - 3 572 c.325T>G c.(325-327)Ttc>Gtc p.F109V ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F109V|ZC3H12D_ENST00000409948.1_Missense_Mutation_p.F109V|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F109V|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F109V A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 109 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) CGGCAAGAGAAGGTTTCTTTA 0.458000 4 12 0 0 0.009096 0 0 GSTM5 2949 broad.mit.edu 37 1 110257571 110257571 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:110257571G>A ENST00000369813.1 + 4 1145 c.240G>A c.(238-240)gaG>gaA p.E80E GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Silent_p.E140E|GSTM5_ENST00000256593.3_Silent_p.E121E P46439 GSTM5_HUMAN glutathione S-transferase mu 5 121 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TGCCTCAGGAGAAACTGAAGC 0.542000 25 35 0 0 0.003330 0 0 TMEM215 401498 broad.mit.edu 37 9 32784392 32784392 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:32784392G>A ENST00000342743.5 + 2 576 c.211G>A c.(211-213)Gag>Aag p.E71K NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 71 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 CAAGTGGCCAGAGAACGAGCT 0.607000 21 27 0 0 0.010504 0 0 IGHV1-3 28473 broad.mit.edu 37 14 106471545 106471545 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:106471545G>A ENST00000390595.2 - 0 93 ACCTGGGAGTGGACACCTGTA 0.572000 23 7 0 0 0.002780 0 0 PAQR3 152559 broad.mit.edu 37 4 79847831 79847831 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:79847831G>A ENST00000512733.1 - 4 759 c.546C>T c.(544-546)atC>atT p.I182I PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000380645.4_Silent_p.I182I NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 182 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 ACACTGCCAGGATCATAGCAA 0.408000 25 116 0 0 0.007291 0 0 WDR27 253769 broad.mit.edu 37 6 170062419 170062419 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:170062419G>A ENST00000333572.6 - 9 1525 c.1006C>T c.(1006-1008)Cca>Tca p.P336S WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.P336S|WDR27_ENST00000423258.1_Missense_Mutation_p.P209S A2RRH5 WDR27_HUMAN WD repeat domain 27 306 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GCAGAATTTGGGATGAGTGAG 0.413000 29 76 0 0 0.002096 0 0 CCDC68 80323 broad.mit.edu 37 18 52609970 52609970 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:52609970T>A ENST00000591504.1 - 3 327 c.53A>T c.(52-54)gAt>gTt p.D18V CCDC68_ENST00000432185.1_Missense_Mutation_p.D18V|CCDC68_ENST00000337363.4_Missense_Mutation_p.D18V NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 18 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) GGCAGAATTATCTTCCATCTT 0.388000 24 42 0 0 0.003330 0 0 WWC1 23286 broad.mit.edu 37 5 167850861 167850861 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:167850861C>T ENST00000265293.4 + 11 2100 c.1598C>T c.(1597-1599)tCc>tTc p.S533F WWC1_ENST00000521089.1_Missense_Mutation_p.S533F NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 533 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TCCATGACCTCCCTATCCCCA 0.632000 14 28 0 0 0.001855 0 0 MCHR2 84539 broad.mit.edu 37 6 100403968 100403968 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:100403968G>A ENST00000281806.2 - 2 370 c.56C>T c.(55-57)tCc>tTc p.S19F MCHR2_ENST00000369212.1_Missense_Mutation_p.S19F|MCHR2_ENST00000445970.1_Missense_Mutation_p.S19F NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 19 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TTTATTCCAGGATTTGTTTAA 0.423000 33 61 0 0 0.002836 0 0 OBSL1 23363 broad.mit.edu 37 2 220430136 220430136 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:220430136G>A ENST00000404537.1 - 6 2291 c.2235C>T c.(2233-2235)ttC>ttT p.F745F OBSL1_ENST00000603926.1_Silent_p.F745F|OBSL1_ENST00000289656.3_Silent_p.F332F|OBSL1_ENST00000373873.4_Silent_p.F745F|OBSL1_ENST00000373876.1_Silent_p.F745F|OBSL1_ENST00000265318.4_Silent_p.F745F NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 745 Ig-like 5. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) AGGTTGCCGGGAAGTCCACCC 0.602000 OREG0003987 type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 25 43 0 0 0.005443 0 0 STAT2 6773 broad.mit.edu 37 12 56749512 56749512 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:56749512G>A ENST00000314128.4 - 4 384 c.361C>T c.(361-363)Cag>Tag p.Q121* STAT2_ENST00000418572.2_Nonsense_Mutation_p.Q117*|STAT2_ENST00000557235.1_Nonsense_Mutation_p.Q117* P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 121 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CTCTGAGCCTGGATCAAAATT 0.448000 37 119 0 0 0.006230 0 0 OR10G2 26534 broad.mit.edu 37 14 22102213 22102213 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:22102213G>A ENST00000542433.1 - 1 883 c.786C>T c.(784-786)ttC>ttT p.F262F NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TAAGGTAGATGAAAATACAGG 0.547000 16 31 0 0 0.004007 0 0 GRIA1 2890 broad.mit.edu 37 5 153175112 153175112 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:153175112G>A ENST00000340592.5 + 14 2420 c.2347G>A c.(2347-2349)Gat>Aat p.D783N GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.D793N|GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000521843.2_Intron NM_001114183.1|NM_001258020.1 NP_001107655.1|NP_001244949.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 783 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGGTGGTACGATAAAGGGGA 0.483000 7 17 0 0 0.003080 0 0 HEPH 9843 broad.mit.edu 37 X 65476031 65476031 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:65476031C>T ENST00000519389.1 + 17 3096 c.2917C>T c.(2917-2919)Cgg>Tgg p.R973W HEPH_ENST00000419594.1_Missense_Mutation_p.R730W|HEPH_ENST00000336279.5_Missense_Mutation_p.R652W|HEPH_ENST00000374727.3_Missense_Mutation_p.R922W|HEPH_ENST00000441993.2_Missense_Mutation_p.R922W|HEPH_ENST00000343002.2_Missense_Mutation_p.R919W Q9BQS7 HEPH_HUMAN hephaestin 919 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TGACATGGATCGGGAATTTGC 0.493000 26 20 0 0 0.005443 0 0 SHC3 53358 broad.mit.edu 37 9 91667023 91667023 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:91667023G>A ENST00000375835.4 - 7 1197 c.891C>T c.(889-891)atC>atT p.I297I SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 297 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity p.I297I(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 AGGCTTGTCCGATGGAGCCGA 0.498000 25 25 0 0 0.003954 0 0 ITGA11 22801 broad.mit.edu 37 15 68607993 68607993 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:68607993C>T ENST00000423218.2 - 22 2883 c.2788G>A c.(2788-2790)Ggc>Agc p.G930S ITGA11_ENST00000315757.7_Missense_Mutation_p.G930S Q9UKX5 ITA11_HUMAN integrin, alpha 11 930 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) CCTGACCTGCCTGCAGCGAGC 0.587000 5 32 0 0 0.001168 0 0 COLEC12 81035 broad.mit.edu 37 18 480727 480727 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:480727G>A ENST00000400256.3 - 2 245 c.38C>T c.(37-39)tCc>tTc p.S13F NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 13 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GTAACCGAAGGATTGCACCTC 0.552000 23 83 0 0 0.005443 0 0 CNTN6 27255 broad.mit.edu 37 3 1414149 1414149 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:1414149G>A ENST00000446702.2 + 13 2286 c.1659G>A c.(1657-1659)agG>agA p.R553R CNTN6_ENST00000539053.1_Silent_p.R481R|CNTN6_ENST00000350110.2_Silent_p.R553R Q9UQ52 CNTN6_HUMAN contactin 6 553 Ig-like C2-type 6. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATTTTGAAAGGATTGGAGGAG 0.353000 16 43 0 0 0.007413 0 0 ARNTL2 56938 broad.mit.edu 37 12 27568837 27568837 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:27568837C>T ENST00000544915.1 + 14 1739 c.1520C>T c.(1519-1521)cCa>cTa p.P507L ARNTL2_ENST00000395901.2_Missense_Mutation_p.P504L|ARNTL2_ENST00000546179.1_Missense_Mutation_p.P504L|ARNTL2_ENST00000266503.5_Missense_Mutation_p.P541L|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P527L|ARNTL2_ENST00000261178.5_Missense_Mutation_p.P493L|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Missense_Mutation_p.P456L NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 541 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) GATTCGAGTCCAACAGGTTTA 0.279000 12 49 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 9076497 9076497 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9076497G>A ENST00000397910.4 - 3 11152 c.10949C>T c.(10948-10950)tCa>tTa p.S3650L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3651 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTTACAGCTGAAGCATCAGA 0.463000 24 43 0 0 0.003330 0 0 BUB1 699 broad.mit.edu 37 2 111419206 111419206 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:111419206G>A ENST00000535254.1 - 9 1177 c.1110C>T c.(1108-1110)gcC>gcT p.A370A BUB1_ENST00000409311.1_Silent_p.A390A|BUB1_ENST00000302759.6_Silent_p.A390A NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 390 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TTACTGTCTGGGCTTTCAAAG 0.522000 34 42 0 0 0.003271 0 0 CASP5 838 broad.mit.edu 37 11 104874035 104874035 + Missense_Mutation SNP T T A rs143600313 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:104874035T>A ENST00000393141.2 - 4 579 c.548A>T c.(547-549)gAa>gTa p.E183V CASP5_ENST00000418434.1_Missense_Mutation_p.E28V|CASP5_ENST00000531367.1_Missense_Mutation_p.E28V|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.E112V|CASP5_ENST00000526056.1_Missense_Mutation_p.E183V|CASP5_ENST00000260315.3_Missense_Mutation_p.E170V NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 170 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TCTCAGGAATTCTTCACGAGG 0.388000 23 63 0 0 0.005443 0 0 SPARC 6678 broad.mit.edu 37 5 151051160 151051160 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:151051160G>A ENST00000231061.4 - 5 617 c.304C>T c.(304-306)Cca>Tca p.P102S NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 102 Kazal-like. ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) ATGGGGGCTGGGCAGCTGGTG 0.592000 47 114 0 0 0.003610 0 0 C4orf50 389197 broad.mit.edu 37 4 5961233 5961233 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:5961233G>A ENST00000531445.1 - 7 2168 c.2122C>T c.(2122-2124)Caa>Taa p.Q708* C4orf50_ENST00000324058.5_Nonsense_Mutation_p.Q234* Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 234 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 TTATCGACTTGGAGGGCAGGA 0.567000 12 68 0 0 0.001368 0 0 LARGE 9215 broad.mit.edu 37 22 33780259 33780259 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:33780259C>T ENST00000354992.2 - 9 1495 c.924G>A c.(922-924)cgG>cgA p.R308R LARGE_ENST00000402320.1_Silent_p.R308R|LARGE_ENST00000452586.2_Silent_p.R107R|LARGE_ENST00000437602.2_Silent_p.R308R|LARGE_ENST00000337431.2_Silent_p.R308R|LARGE_ENST00000397394.2_Silent_p.R308R NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 308 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) ATTTCATCTTCCGCAGCTTAT 0.488000 32 92 0 0 0.002836 0 0 CDC20B 166979 broad.mit.edu 37 5 54439467 54439467 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:54439467G>A ENST00000334206.5 - 4 536 c.360C>T c.(358-360)tcC>tcT p.S120S CDC20B_ENST00000322374.6_Silent_p.S120S|CDC20B_ENST00000331730.3_Silent_p.S99S|CDC20B_ENST00000296733.1_Silent_p.S120S|CDC20B_ENST00000381375.2_Silent_p.S120S Q86Y33 CD20B_HUMAN cell division cycle 20B 120 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) GTTCTTTGCGGGATCCTACAA 0.408000 15 29 0 0 0.004007 0 0 LGALS4 3960 broad.mit.edu 37 19 39293030 39293030 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:39293030G>A ENST00000307751.4 - 8 1062 c.585C>T c.(583-585)ttC>ttT p.F195F NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 195 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GCAGCCTCCCGAAATATGGCA 0.502000 41 87 0 0 0.008740 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962863 88962863 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:88962863C>T ENST00000333190.4 + 4 1176 c.567C>T c.(565-567)caC>caT p.H189H NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 189 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CAAATCGACACCAATTACAAT 0.413000 HNSCC(36;0.09) 21 55 0 0 0.002299 0 0 COL4A5 1287 broad.mit.edu 37 X 107840636 107840636 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:107840636C>T ENST00000328300.6 + 24 1861 c.1617C>T c.(1615-1617)ggC>ggT p.G539G COL4A5_ENST00000361603.2_Silent_p.G539G NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 539 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 GTGCTCCAGGCTTTCCTGGAT 0.448000 Alport syndrome with Diffuse Leiomyomatosis 62 17 0 0 0.003610 0 0 RREB1 6239 broad.mit.edu 37 6 7211090 7211090 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:7211090C>T ENST00000379938.2 + 7 1016 c.479C>T c.(478-480)cCa>cTa p.P160L RREB1_ENST00000334984.6_Missense_Mutation_p.P160L|RREB1_ENST00000379933.3_Missense_Mutation_p.P160L|RREB1_ENST00000349384.6_Missense_Mutation_p.P160L NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 160 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ACAGCCCCTCCATCTCCTCTG 0.483000 42 83 0 0 0.008740 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125828 12125828 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:12125828C>T ENST00000379388.2 + 4 6132 c.5800C>T c.(5800-5802)Cct>Tct p.P1934S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1934 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCTGGCTTTCCCTAGCCTGAA 0.423000 26 63 0 0 0.009535 0 0 TAS2R42 353164 broad.mit.edu 37 12 11339534 11339534 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:11339534C>T ENST00000334266.1 - 1 9 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 4 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) TTGTCCAATTCGGTGGCCATC 0.368000 31 43 0 0 0.002096 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654452 61654452 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:61654452C>T ENST00000397985.2 + 7 1321 c.1065C>T c.(1063-1065)ttC>ttT p.F355F SERPINB8_ENST00000353706.2_Silent_p.F355F|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Silent_p.F173F NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 355 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) CTTTTCTTTTCTTCATCAGGC 0.512000 16 89 0 0 0.008871 0 0 OR52I1 390037 broad.mit.edu 37 11 4615303 4615303 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:4615303C>T ENST00000450052.2 + 2 107 c.107C>T c.(106-108)aCc>aTc p.T36I OR52I1_ENST00000530443.2_Missense_Mutation_p.T12I Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAATGGAAACCCCTGCCTCC 0.473000 51 146 0 0 0.003610 0 0 LINGO2 158038 broad.mit.edu 37 9 27950040 27950040 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:27950040A>T ENST00000379992.2 - 6 1079 c.630T>A c.(628-630)caT>caA p.H210Q LINGO2_ENST00000308675.3_Missense_Mutation_p.H210Q NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 210 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TGATATTGAGATGCTTCAGAT 0.468000 22 32 0 0 0.010504 0 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020837 33020837 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:33020837C>T ENST00000565407.2 + 0 245 RP11-19N8.2_ENST00000567619.1_RNA TACGCAGACTCTGTGAAGGGC 0.512000 8 191 0 0 0.004007 0 0 CSMD2 114784 broad.mit.edu 37 1 34092084 34092084 + Splice_Site SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:34092084A>T ENST00000373381.4 - 33 5473 c.e33+1 CSMD2_ENST00000373377.1_Splice_Site|CSMD2_ENST00000373380.1_Splice_Site|CSMD2_ENST00000373388.2_Splice_Site NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGTCCTCCATACCTTGGTAGA 0.532000 7 17 0 0 0.004482 0 0 TECTA 7007 broad.mit.edu 37 11 120989023 120989023 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:120989023C>T ENST00000392793.1 + 7 1070 c.799C>T c.(799-801)Ctt>Ttt p.L267F TECTA_ENST00000264037.2_Missense_Mutation_p.L267F O75443 TECTA_HUMAN tectorin alpha 267 VWFC. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGGACAATTCCTTCGGCGAGG 0.478000 14 46 0 0 0.003163 0 0 MYCN 4613 broad.mit.edu 37 2 16086111 16086111 + Nonsense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:16086111T>A ENST00000281043.3 + 3 1584 c.1287T>A c.(1285-1287)taT>taA p.Y429* NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 429 Helix-loop-helix motif. regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CCACTGAGTATGTCCACTCCC 0.517000 A neuroblastoma 77 136 0 0 0.003610 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214073 140214073 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140214073C>T ENST00000525929.1 + 1 105 c.105C>T c.(103-105)gtC>gtT p.V35V PCDHA7_ENST00000378125.3_Silent_p.V35V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTACTCGGTCCCCGAGGAGG 0.627000 34 69 0 0 0.002836 0 0 GPR20 2843 broad.mit.edu 37 8 142367016 142367016 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:142367016G>A ENST00000377741.3 - 2 1098 c.1008C>T c.(1006-1008)ggC>ggT p.G336G NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 336 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) TGTGATGACGGCCTGAGCCCT 0.677000 18 29 0 0 0.007413 0 0 MUC16 94025 broad.mit.edu 37 19 9068117 9068117 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9068117C>T ENST00000397910.4 - 3 19532 c.19329G>A c.(19327-19329)agG>agA p.R6443R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6445 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGCAATGGTCCTTTCTTCGG 0.522000 72 133 0 0 0.003610 0 0 TRIM27 5987 broad.mit.edu 37 6 28888011 28888011 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:28888011G>A ENST00000377199.3 - 3 881 c.525C>T c.(523-525)acC>acT p.T175T TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Silent_p.T175T NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 175 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 TCTCCATCTGGGTTAGGCTCT 0.507000 T RET papillary thyroid 32 101 0 0 0.003755 0 0 ARNTL2 56938 broad.mit.edu 37 12 27568836 27568836 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:27568836C>T ENST00000544915.1 + 14 1738 c.1519C>T c.(1519-1521)Cca>Tca p.P507S ARNTL2_ENST00000395901.2_Missense_Mutation_p.P504S|ARNTL2_ENST00000546179.1_Missense_Mutation_p.P504S|ARNTL2_ENST00000266503.5_Missense_Mutation_p.P541S|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P527S|ARNTL2_ENST00000261178.5_Missense_Mutation_p.P493S|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Missense_Mutation_p.P456S NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 541 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) TGATTCGAGTCCAACAGGTTT 0.274000 12 49 0 0 0.003163 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174541 150174541 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:150174541G>A ENST00000307271.3 + 5 2245 c.1671G>A c.(1669-1671)acG>acA p.T557T NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 557 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAGACTTTACGAAATACGCGA 0.493000 96 33 0 0 0.003610 0 0 KIAA0368 23392 broad.mit.edu 37 9 114151901 114151901 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:114151901G>A ENST00000259335.4 - 32 3915 c.3916C>T c.(3916-3918)Ccc>Tcc p.P1306S KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.P1128S NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 CCAAGGTTGGGATCAAACTGG 0.463000 18 20 0 0 0.006122 0 0 NARFL 64428 broad.mit.edu 37 16 789655 789655 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:789655G>A ENST00000251588.2 - 2 166 c.150C>T c.(148-150)ttC>ttT p.F50F NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000301694.5_Silent_p.F50F NM_022493.1 NP_071938.1 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 50 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) GGTTAATTTGGAAGTAGCTCC 0.537000 40 53 0 0 0.003610 0 0 PHEX 5251 broad.mit.edu 37 X 22117197 22117197 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:22117197C>T ENST00000379374.4 + 9 1572 c.1007C>T c.(1006-1008)tCc>tTc p.S336F PHEX_ENST00000535894.1_Missense_Mutation_p.S239F|PHEX_ENST00000418858.3_Missense_Mutation_p.S39F|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.S336F NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 336 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 ATCAGCCCCTCCGAGAATGTG 0.453000 49 31 0 0 0.003610 0 0 DDX3X 1654 broad.mit.edu 37 X 41205845 41205845 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:41205845A>C ENST00000399959.2 + 14 2440 c.1585A>C c.(1585-1587)Att>Ctt p.I529L DDX3X_ENST00000457138.2_Missense_Mutation_p.I513L|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 529 Helicase C-terminal. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 TGTACATCGTATTGGTCGTAC 0.378000 HNSCC(61;0.18) 46 30 0 0 0.003610 0 0 SYNE3 161176 broad.mit.edu 37 14 95923555 95923555 + Missense_Mutation SNP T T G rs139621209 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:95923555T>G ENST00000334258.5 - 4 762 c.748A>C c.(748-750)Aac>Cac p.N250H SYNE3_ENST00000557275.1_Missense_Mutation_p.N250H|SYNE3_ENST00000553340.1_Missense_Mutation_p.N250H NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 AGCTTGCAGTTCCGCCCCAGG 0.622000 47 78 0 0 0.003610 0 0 ROS1 6098 broad.mit.edu 37 6 117700224 117700224 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:117700224C>T ENST00000368508.3 - 17 2793 c.2595G>A c.(2593-2595)caG>caA p.Q865Q ROS1_ENST00000368507.3_Silent_p.Q860Q|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 865 Q -> H (in a lung large cell carcinoma sample; somatic mutation). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.Q865H(1) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTACTTACCTCTGTCCCCGAA 0.383000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 9 39 0 0 0.004482 0 0 MUC6 4588 broad.mit.edu 37 11 1019291 1019291 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:1019291C>T ENST00000421673.2 - 30 4064 c.4014G>A c.(4012-4014)ggG>ggA p.G1338G NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1338 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGGGCTTGTCCCTGATGTGG 0.617000 12 26 0 0 0.001855 0 0 TLN2 83660 broad.mit.edu 37 15 63011987 63011987 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:63011987C>T ENST00000561311.1 + 24 3129 c.2899C>T c.(2899-2901)Cag>Tag p.Q967* TLN2_ENST00000306829.6_Nonsense_Mutation_p.Q967* Q9Y4G6 TLN2_HUMAN talin 2 967 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TCACATCCCTCAGCTGGTCCA 0.547000 5 18 0 0 0.001168 0 0 SP110 3431 broad.mit.edu 37 2 231067394 231067394 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:231067394G>A ENST00000258381.6 - 9 1026 c.949C>T c.(949-951)Cag>Tag p.Q317* SP110_ENST00000258382.5_Nonsense_Mutation_p.Q317*|SP110_ENST00000392048.3_Nonsense_Mutation_p.Q315*|SP110_ENST00000358662.4_Nonsense_Mutation_p.Q317*|SP110_ENST00000540870.1_Nonsense_Mutation_p.Q323*|SP110_ENST00000338556.3_Intron NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 317 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TGAGGAACCTGATCCACCCTT 0.458000 34 80 0 0 0.004878 0 0 ANKS1A 23294 broad.mit.edu 37 6 35047422 35047422 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:35047422C>A ENST00000360359.3 + 15 2551 c.2413C>A c.(2413-2415)Ctc>Atc p.L805I ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 805 SAM 2. cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CGTGAAGAACCTCTGGGAGCT 0.612000 17 55 1.02788e-11 1.18782e-11 0.004990 1 0 SLC4A1 6521 broad.mit.edu 37 17 42335105 42335105 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:42335105G>A ENST00000262418.6 - 12 1508 c.1353C>T c.(1351-1353)ttC>ttT p.F451F NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 451 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCAGCAGGGCGAAGAGAATGC 0.592000 7 29 0 0 0.001984 0 0 FOXR2 139628 broad.mit.edu 37 X 55650949 55650949 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:55650949C>T ENST00000339140.3 + 1 1117 c.805C>T c.(805-807)Ctt>Ttt p.L269F NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 269 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 TCGCTCTTGCCTTTGGAAGCT 0.517000 27 20 0 0 0.005443 0 0 TRIB3 57761 broad.mit.edu 37 20 372142 372142 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:372142C>T ENST00000217233.3 + 3 1056 c.503C>T c.(502-504)aCc>aTc p.T168I TRIB3_ENST00000422053.2_Missense_Mutation_p.T195I NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 168 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) CAGATGGCCACCGCCCTGGCG 0.622000 5 22 0 0 0.001168 0 0 NOP58 51602 broad.mit.edu 37 2 203157613 203157613 + Silent SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:203157613T>A ENST00000264279.5 + 9 1120 c.894T>A c.(892-894)ctT>ctA p.L298L NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 298 Nop. cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 GAGCACGGCTTATTGCTCATG 0.368000 32 110 0 0 0.004289 0 0 CACNA1C 775 broad.mit.edu 37 12 2797694 2797694 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:2797694C>T ENST00000399655.1 + 46 6131 c.5866C>T c.(5866-5868)Cca>Tca p.P1956S CACNA1C_ENST00000399649.1_Missense_Mutation_p.P1962S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P1975S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P1956S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P2027S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P1976S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P1956S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P1981S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P1991S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P1973S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P1975S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P1956S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P1964S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P2027S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P1964S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P1984S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P1975S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P1991S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P1997S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P1956S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P1956S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P2004S|CACNA1C-AS1_ENST00000501371.1_RNA NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 2039 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGCCACCCCACCAGCCACACC 0.647000 36 57 0 0 0.004878 0 0 CNGA2 1260 broad.mit.edu 37 X 150909283 150909283 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:150909283T>C ENST00000329903.4 + 4 425 c.392T>C c.(391-393)tTt>tCt p.F131S NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 131 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TTTGAACTATTTGTCTTGGAC 0.532000 65 37 0 0 0.003610 0 0 AL132709.8 0 broad.mit.edu 37 14 101429389 101429389 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:101429389C>T ENST00000423708.3 + 0 736 GATGTCAAATCCTGAACTAGT 0.333000 10 24 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179585824 179585824 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179585824G>A ENST00000589042.1 - 79 23146 c.22922C>T c.(22921-22923)tCa>tTa p.S7641L TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6397L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7324L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7324 Ig-like 58. 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) TCGGAACCATGAAACTTTGAT 0.373000 35 90 0 0 0.002836 0 0 FLII 2314 broad.mit.edu 37 17 18156662 18156662 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:18156662G>A ENST00000327031.4 - 9 1191 c.966C>T c.(964-966)ttC>ttT p.F322F FLII_ENST00000579294.1_Silent_p.F311F|FLII_ENST00000545457.2_Silent_p.F268F|FLII_ENST00000379450.4_Silent_p.F237F|FLII_ENST00000578558.1_Silent_p.F322F NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 322 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) TGGCAGCCATGAACTCTTCCA 0.577000 9 32 0 0 0.006214 0 0 ASPRV1 151516 broad.mit.edu 37 2 70187831 70187831 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:70187831C>T ENST00000320256.4 - 1 1566 c.990G>A c.(988-990)gaG>gaA p.E330E NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 330 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 AGGAGGGGTCCTCCTCTATGA 0.552000 37 92 0 0 0.002522 0 0 DNAH9 1770 broad.mit.edu 37 17 11593480 11593480 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:11593480G>A ENST00000262442.3 + 20 4409 c.4341G>A c.(4339-4341)atG>atA p.M1447I DNAH9_ENST00000454412.2_Missense_Mutation_p.M1447I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1447 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGGCTGGCATGGAATTCCAGT 0.512000 8 40 0 0 0.006214 0 0 PRTFDC1 56952 broad.mit.edu 37 10 25226281 25226281 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:25226281G>A ENST00000320152.6 - 3 199 c.171C>T c.(169-171)gcC>gcT p.A57A PRTFDC1_ENST00000376378.1_Silent_p.A57A|PRTFDC1_ENST00000376376.3_Silent_p.A57A NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 57 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 TAATATCCTTGGCCAGCCGCT 0.368000 10 42 0 0 0.000978 0 0 UNC5D 137970 broad.mit.edu 37 8 35631906 35631906 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:35631906C>T ENST00000287272.2 + 15 2381 c.2361C>T c.(2359-2361)tcC>tcT p.S787S UNC5D_ENST00000420357.1_Silent_p.S789S|UNC5D_ENST00000416672.1_Silent_p.S861S|UNC5D_ENST00000404895.2_Silent_p.S856S|UNC5D_ENST00000453357.2_Silent_p.S851S|UNC5D_ENST00000449677.1_Silent_p.S432S Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 856 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTCCCTACTCCATCAGACAGC 0.463000 28 57 0 0 0.006320 0 0 OR4K17 390436 broad.mit.edu 37 14 20586276 20586276 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:20586276C>T ENST00000315543.4 + 1 711 c.711C>T c.(709-711)atC>atT p.I237I NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GTGGCATAATCTCCCTGAGCT 0.413000 27 97 0 0 0.004656 0 0 EFNB3 1949 broad.mit.edu 37 17 7608921 7608921 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:7608921G>A ENST00000226091.2 + 1 402 c.5G>A c.(4-6)gGg>gAg p.G2E NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 2 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) GGGGTCATGGGGCCCCCCCAT 0.731000 3 9 0 0 0.004672 0 0 APOL1 8542 broad.mit.edu 37 22 36662071 36662071 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:36662071G>A ENST00000319136.4 + 7 1504 c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K APOL1_ENST00000397278.3_Missense_Mutation_p.E397K|APOL1_ENST00000426053.1_Missense_Mutation_p.E379K|APOL1_ENST00000422706.1_Missense_Mutation_p.E397K|APOL1_ENST00000397279.4_Missense_Mutation_p.E397K|APOL1_ENST00000347595.7_Missense_Mutation_p.E276K NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 397 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding p.E413K(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 GGCGGACCAAGAACTGTGACC 0.483000 20 44 0 0 0.010504 0 0 DDX51 317781 broad.mit.edu 37 12 132626863 132626863 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:132626863C>T ENST00000397333.3 - 4 813 c.775G>A c.(775-777)Ggc>Agc p.G259S NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 259 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) TTCCCACTGCCTGTTGGGGCA 0.612000 14 48 0 0 0.001855 0 0 TTN 7273 broad.mit.edu 37 2 179500199 179500199 + Missense_Mutation SNP C C T rs55723264 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179500199C>T ENST00000589042.1 - 227 42076 c.41852G>A c.(41851-41853)gGa>gAa p.G13951E TTN_ENST00000359218.5_Missense_Mutation_p.G5011E|TTN_ENST00000342992.6_Missense_Mutation_p.G11383E|TTN_ENST00000460472.2_Missense_Mutation_p.G4886E|TTN_ENST00000342175.6_Missense_Mutation_p.G5078E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G12310E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12310 Ig-like 95. 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) GTATCTTTTTCCTTCAATTTC 0.338000 4 14 0 0 0.009096 0 0 LIMA1 51474 broad.mit.edu 37 12 50589631 50589631 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:50589631G>A ENST00000547825.1 - 2 1375 c.106C>T c.(106-108)Cct>Tct p.P36S LIMA1_ENST00000552823.1_Missense_Mutation_p.P178S|LIMA1_ENST00000552909.1_Missense_Mutation_p.P178S|LIMA1_ENST00000552783.1_Missense_Mutation_p.P178S|LIMA1_ENST00000552491.1_Missense_Mutation_p.P36S|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.P338S|LIMA1_ENST00000341247.4_Missense_Mutation_p.P338S NM_001243775.1 NP_001230704.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 338 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 TCTTCGGCAGGGGTGGAACGG 0.378000 16 51 0 0 0.010504 0 0 STAT3 6774 broad.mit.edu 37 17 40476848 40476848 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:40476848G>A ENST00000264657.5 - 17 1793 c.1481C>T c.(1480-1482)aCc>aTc p.T494I STAT3_ENST00000404395.3_Missense_Mutation_p.T494I|STAT3_ENST00000389272.3_Missense_Mutation_p.T396I|STAT3_ENST00000588969.1_Missense_Mutation_p.T494I|STAT3_ENST00000585517.1_Missense_Mutation_p.T494I NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 494 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TGGGGGCTTGGTAAAAAAGTT 0.488000 Hyperimmunoglobulin E Recurrent Infection Syndrome 29 35 0 0 0.009535 0 0 CCDC129 223075 broad.mit.edu 37 7 31617952 31617952 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:31617952G>A ENST00000409210.1 + 6 982 c.798G>A c.(796-798)aaG>aaA p.K266K CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Silent_p.K384K|CCDC129_ENST00000407970.3_Silent_p.K358K Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 358 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GGTCAGTCAAGGGCAGAACTC 0.498000 11 44 0 0 0.000978 0 0 GATA5 140628 broad.mit.edu 37 20 61048533 61048533 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:61048533G>A ENST00000252997.2 - 3 686 c.625C>T c.(625-627)Ctg>Ttg p.L209L NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 209 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) GCATTGCACAGGTAGTGGCCG 0.662000 5 21 0 0 0.000602 0 0 RSPH4A 345895 broad.mit.edu 37 6 116944108 116944108 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:116944108G>A ENST00000229554.5 + 2 1001 c.864G>A c.(862-864)aaG>aaA p.K288K RSPH4A_ENST00000368580.4_Silent_p.K288K|RSPH4A_ENST00000368581.4_Silent_p.K288K NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 288 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 AAAAGCAAAAGGCTCTTTTTC 0.328000 Kartagener syndrome 54 134 0 0 0.003610 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785199 37785199 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:37785199T>G ENST00000314103.4 + 12 1230 c.1079T>G c.(1078-1080)tTc>tGc p.F360C NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 360 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 GATGGTGCCTTCCTGGCCATT 0.443000 25 68 0 0 0.006320 0 0 WLS 79971 broad.mit.edu 37 1 68564346 68564346 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:68564346A>T ENST00000540432.1 - 12 1890 c.1607T>A c.(1606-1608)tTc>tAc p.F536Y WLS_ENST00000354777.2_Missense_Mutation_p.F534Y|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA Q5T9L3 WLS_HUMAN wntless Wnt ligand secretion mediator 0 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1) 20 gtcattgatgaaggaatattt 0.388000 20 54 0 0 0.002780 0 0 RASSF6 166824 broad.mit.edu 37 4 74442203 74442203 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:74442203G>A ENST00000307439.5 - 10 1156 c.862C>T c.(862-864)Cac>Tac p.H288Y RASSF6_ENST00000395777.2_Missense_Mutation_p.H254Y|RASSF6_ENST00000342081.3_Missense_Mutation_p.H320Y|RASSF6_ENST00000335049.5_Missense_Mutation_p.H276Y NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 320 Ras-associating. apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) AGAGAAAAGTGAAAGTTAATG 0.348000 6 9 0 0 0.001168 0 0 GRM7 2917 broad.mit.edu 37 3 7620981 7620981 + Silent SNP G G A rs117160055 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:7620981G>A ENST00000486284.1 + 8 2662 c.2388G>A c.(2386-2388)acG>acA p.T796T GRM7_ENST00000402647.2_Silent_p.T796T|GRM7_ENST00000389336.4_Silent_p.T796T|GRM7_ENST00000357716.4_Silent_p.T796T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.T796T NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 796 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) CTATGTACACGACATGTATAG 0.403000 9 33 0 0 0.004482 0 0 TCF20 6942 broad.mit.edu 37 22 42606728 42606728 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:42606728G>A ENST00000359486.3 - 1 4720 c.4584C>T c.(4582-4584)ttC>ttT p.F1528F TCF20_ENST00000335626.4_Silent_p.F1528F NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1528 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CCTTTGGAGGGAAACCCTCTT 0.517000 27 49 0 0 0.006320 0 0 AAK1 22848 broad.mit.edu 37 2 69759266 69759266 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:69759266C>T ENST00000409085.4 - 6 939 c.563G>A c.(562-564)gGc>gAc p.G188D AAK1_ENST00000409068.1_Missense_Mutation_p.G188D|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000406297.3_Missense_Mutation_p.G188D NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 188 Protein kinase. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 GACATAGTGGCCTCGGTCATG 0.423000 21 49 0 0 0.008871 0 0 EMC3 55831 broad.mit.edu 37 3 10012301 10012301 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:10012301C>T ENST00000245046.2 - 6 997 c.539G>A c.(538-540)cGg>cAg p.R180Q EMC3_ENST00000497557.1_5'UTR NM_018447.2 NP_060917.1 ER membrane protein complex subunit 3 p.R180P(1) GTAAATGCTCCGAAGCCCAAA 0.403000 27 89 0 0 0.009535 0 0 CADPS 8618 broad.mit.edu 37 3 62739277 62739277 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:62739277C>T ENST00000383710.4 - 3 1076 c.727G>A c.(727-729)Gcc>Acc p.A243T CADPS_ENST00000357948.3_Missense_Mutation_p.A243T|CADPS_ENST00000490353.2_Missense_Mutation_p.A243T|CADPS_ENST00000283269.9_Missense_Mutation_p.A243T NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 243 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CGGTAGATGGCATCAAATTTG 0.567000 28 54 0 0 0.005443 0 0 GPX5 2880 broad.mit.edu 37 6 28501754 28501754 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:28501754C>T ENST00000412168.2 + 5 565 c.476C>T c.(475-477)cCc>cTc p.P159L GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 159 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) TGTCCTCATCCCTCTGAGATT 0.458000 63 137 0 0 0.003610 0 0 CRISP3 10321 broad.mit.edu 37 6 49703226 49703226 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:49703226G>A ENST00000433368.2 - 4 406 c.337C>T c.(337-339)Cga>Tga p.R113* CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Nonsense_Mutation_p.R90*|CRISP3_ENST00000371159.4_Nonsense_Mutation_p.R121*|CRISP3_ENST00000263045.4_Nonsense_Mutation_p.R103* NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 90 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTTGTCATTCGATCCTTTGGG 0.333000 33 120 0 0 0.002836 0 0 NALCN 259232 broad.mit.edu 37 13 101712174 101712174 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:101712174G>A ENST00000251127.6 - 42 4982 c.4901C>T c.(4900-4902)cCt>cTt p.P1634L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1634 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCATACCTCAGGTTGCATGCT 0.517000 21 63 0 0 0.002780 0 0 ASIC2 40 broad.mit.edu 37 17 31415919 31415919 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:31415919G>A ENST00000225823.2 - 3 1821 c.949C>T c.(949-951)Cca>Tca p.P317S ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Missense_Mutation_p.P266S NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 266 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TGGAACCCTGGAGCCACCCCA 0.562000 3 24 0 0 0.004672 0 0 NANOGP1 404635 broad.mit.edu 37 12 8050875 8050875 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:8050875C>T ENST00000607111.1 + 0 278 kidney(1)|lung(4)|prostate(1) 6 agacctggttccagaaccaga 0.363000 9 9 0 0 0.001368 0 0 SCRN1 9805 broad.mit.edu 37 7 29963649 29963649 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:29963649G>A ENST00000426154.1 - 8 1345 c.1169C>T c.(1168-1170)tCc>tTc p.S390F SCRN1_ENST00000416113.2_Missense_Mutation_p.S216F|SCRN1_ENST00000409497.1_Missense_Mutation_p.S390F|SCRN1_ENST00000242059.5_Missense_Mutation_p.S390F NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 390 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 CAGTGGCTCGGAGCTGGTCAG 0.537000 26 52 0 0 0.004656 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948253 119948253 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:119948253G>A ENST00000307142.4 + 3 925 c.729G>A c.(727-729)tcG>tcA p.S243S SYNPO2_ENST00000429713.2_Silent_p.S243S|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.S243S NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 243 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding p.S243S(1) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACATAAATTCGATCCCTACTA 0.493000 4 22 0 0 0.009096 0 0 ZNF597 146434 broad.mit.edu 37 16 3487539 3487539 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:3487539C>T ENST00000301744.4 - 4 396 c.e4-1 LA16c-306E5.2_ENST00000575785.1_RNA NM_152457.1 NP_689670.1 Q96LX8 ZN597_HUMAN zinc finger protein 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 CCTTCCTCTCCTGTTGATAAA 0.418000 17 18 0 0 0.004007 0 0 RGPD3 653489 broad.mit.edu 37 2 107029624 107029624 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:107029624C>T ENST00000409886.3 - 22 5269 c.5182G>A c.(5182-5184)Gaa>Aaa p.E1728K RGPD3_ENST00000304514.7_Missense_Mutation_p.E1728K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1728 GRIP. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTCTCTCTTTCACTACCTGGC 0.443000 70 164 0 0 0.003610 0 0 HAL 3034 broad.mit.edu 37 12 96370431 96370431 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:96370431G>A ENST00000261208.3 - 19 2076 c.1708C>T c.(1708-1710)Ctg>Ttg p.L570L HAL_ENST00000538703.1_Silent_p.L570L|HAL_ENST00000541929.1_Silent_p.L362L NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 570 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) GTTGTTTTCAGGGGACGTAGA 0.478000 101 40 0 0 0.003610 0 0 REV1 51455 broad.mit.edu 37 2 100020940 100020940 + Silent SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:100020940T>G ENST00000258428.3 - 18 3240 c.3012A>C c.(3010-3012)ggA>ggC p.G1004G REV1_ENST00000393445.3_Silent_p.G1003G|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 1004 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTAAATTTATTCCTGCGTCAC 0.423000 Direct reversal of damage 31 92 0 0 0.009535 0 0 CREB3L4 148327 broad.mit.edu 37 1 153945887 153945887 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:153945887A>G ENST00000368607.3 + 8 1110 c.844A>G c.(844-846)Acg>Gcg p.T282A CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.T282A|CREB3L4_ENST00000405694.3_Missense_Mutation_p.T135A|CREB3L4_ENST00000368600.3_Missense_Mutation_p.T262A|CREB3L4_ENST00000368603.1_Missense_Mutation_p.T282A NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 282 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCAGCTGCAGACGCTAATTGC 0.517000 19 40 0 0 0.003330 0 0 TRPS1 7227 broad.mit.edu 37 8 116599255 116599255 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:116599255G>A ENST00000395715.3 - 5 3250 c.2673C>T c.(2671-2673)tcC>tcT p.S891S TRPS1_ENST00000220888.5_Silent_p.S878S|TRPS1_ENST00000519076.1_Silent_p.S632S|TRPS1_ENST00000519674.1_Silent_p.S878S|TRPS1_ENST00000520276.1_Silent_p.S882S NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 878 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ATTCATCCTTGGACTTGTTTT 0.502000 Langer-Giedion syndrome 22 51 0 0 0.002780 0 0 TENM3 55714 broad.mit.edu 37 4 183600924 183600924 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:183600924C>T ENST00000511685.1 + 8 1555 c.1432C>T c.(1432-1434)Cat>Tat p.H478Y TENM3_ENST00000406950.2_Missense_Mutation_p.H478Y teneurin transmembrane protein 3 CGTCAGCCTTCATGAGGCCGG 0.532000 19 34 0 0 0.008871 0 0 PKP2 5318 broad.mit.edu 37 12 32945370 32945370 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:32945370G>A ENST00000340811.4 - 13 2610 c.2502C>T c.(2500-2502)tcC>tcT p.S834S PKP2_ENST00000070846.6_Silent_p.S878S NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 878 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AGTCTTTAAGGGAGTGGTAGG 0.423000 14 40 0 0 0.004007 0 0 YEATS2 55689 broad.mit.edu 37 3 183480001 183480001 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:183480001C>T ENST00000305135.5 + 15 2076 c.1881C>T c.(1879-1881)tcC>tcT p.S627S NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 627 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TAGCTGTGTCCCCTCAAAAAC 0.537000 28 48 0 0 0.004656 0 0 ATG2A 23130 broad.mit.edu 37 11 64677192 64677192 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:64677192C>A ENST00000421419.2 - 14 2182 c.2068G>T c.(2068-2070)Gtc>Ttc p.V690F ATG2A_ENST00000377264.3_Missense_Mutation_p.V690F Q2TAZ0 ATG2A_HUMAN autophagy related 2A 690 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 TGGGTGGGGACTGGGGGACCA 0.667000 20 39 1.37522e-17 1.59396e-17 0.007413 1 0 KIAA1804 84451 broad.mit.edu 37 1 233514909 233514909 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:233514909G>A ENST00000366624.3 + 9 2418 c.2157G>A c.(2155-2157)acG>acA p.T719T MLK4_ENST00000366622.1_Silent_p.T165T NM_032435.2 NP_115811.2 GAAAGAAAACGGAGTCAGCTC 0.547000 28 34 0 0 0.005443 0 0 RASGRF2 5924 broad.mit.edu 37 5 80363981 80363981 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:80363981G>A ENST00000265080.4 + 3 593 c.526G>A c.(526-528)Gaa>Aaa p.E176K NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 176 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity p.E176K(1) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CACAGAAATCGAAAGGCTTAA 0.383000 16 52 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179466205 179466205 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179466205C>T ENST00000589042.1 - 287 55743 c.55519G>A c.(55519-55521)Gga>Aga p.G18507R TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9567R|TTN_ENST00000342992.6_Missense_Mutation_p.G15939R|TTN_ENST00000460472.2_Missense_Mutation_p.G9442R|TTN_ENST00000342175.6_Missense_Mutation_p.G9634R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16866R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16866 Ig-like 106. 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) CTGTCTCCTCCATCGTCGTCT 0.453000 52 117 0 0 0.003610 0 0 ECHS1 1892 broad.mit.edu 37 10 135182473 135182473 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:135182473C>T ENST00000368547.3 - 4 823 c.468G>A c.(466-468)gaG>gaA p.E156E NM_004092.3 NP_004083.3 P30084 ECHM_HUMAN enoyl CoA hydratase, short chain, 1, mitochondrial 156 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) ACTGGGCCTTCTCACCGGCAT 0.488000 26 33 0 0 0.002096 0 0 PLA2R1 22925 broad.mit.edu 37 2 160843670 160843670 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:160843670G>A ENST00000283243.7 - 12 2240 c.2034C>T c.(2032-2034)ttC>ttT p.F678F PLA2R1_ENST00000392771.1_Silent_p.F678F NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 678 C-type lectin 4. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GTATCACCTTGAAGCAACTGG 0.438000 28 57 0 0 0.008361 0 0 SRGAP1 57522 broad.mit.edu 37 12 64488754 64488754 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:64488754C>T ENST00000355086.3 + 13 2106 c.1582C>T c.(1582-1584)Cgg>Tgg p.R528W SRGAP1_ENST00000543397.1_Missense_Mutation_p.R465W|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R505W NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 528 Rho-GAP. axon guidance cytosol p.R528W(1) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AAGCTGTATTCGGTTCATCAA 0.383000 42 80 0 0 0.002852 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566737 45566737 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:45566737A>G ENST00000588982.1 - 3 1243 c.742T>C c.(742-744)Ttg>Ctg p.L248L ZBTB7C_ENST00000586438.1_Silent_p.L248L|ZBTB7C_ENST00000535628.2_Silent_p.L248L|ZBTB7C_ENST00000590800.1_Silent_p.L248L|ZBTB7C_ENST00000332053.2_Silent_p.L248L A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 248 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AATGGAGACAAGGAGGGTCTC 0.612000 9 24 0 0 0.004482 0 0 CFI 3426 broad.mit.edu 37 4 110667517 110667517 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:110667517G>A ENST00000394634.2 - 11 1497 c.1290C>T c.(1288-1290)atC>atT p.I430I CFI_ENST00000394635.3_Silent_p.I438I|CFI_ENST00000512148.1_Silent_p.I423I NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 430 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CAATCAAAGCGATGTCATTTT 0.408000 9 37 0 0 0.006214 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73064048 73064048 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:73064048C>T ENST00000263674.3 + 3 3794 c.3444C>T c.(3442-3444)ctC>ctT p.L1148L ARHGEF17_ENST00000536170.1_3'UTR NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1148 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GAGCCCTGCTCGTCCAGTCGG 0.657000 23 28 0 0 0.002780 0 0 EPB41 2035 broad.mit.edu 37 1 29342210 29342210 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:29342210C>T ENST00000343067.4 + 6 963 c.836C>T c.(835-837)cCt>cTt p.P279L EPB41_ENST00000398863.2_Missense_Mutation_p.P279L|EPB41_ENST00000373797.1_Missense_Mutation_p.P279L|EPB41_ENST00000373798.1_Missense_Mutation_p.P279L|EPB41_ENST00000373800.3_Missense_Mutation_p.P70L|EPB41_ENST00000356093.2_Missense_Mutation_p.P279L|EPB41_ENST00000349460.4_Missense_Mutation_p.P70L|EPB41_ENST00000347529.3_Missense_Mutation_p.P244L NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 279 FERM. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) ATAGGTGTCCCTTGGAATTTT 0.269000 7 31 0 0 0.001984 0 0 RIMS3 9783 broad.mit.edu 37 1 41107542 41107542 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:41107542C>T ENST00000372684.3 - 3 525 c.56G>A c.(55-57)cGg>cAg p.R19Q RIMS3_ENST00000372683.1_Missense_Mutation_p.R19Q NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 19 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) GCTGGAGCTCCGCACCACATT 0.667000 18 44 0 0 0.007413 0 0 FSCB 84075 broad.mit.edu 37 14 44975396 44975396 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:44975396G>A ENST00000340446.4 - 1 1086 c.795C>T c.(793-795)ttC>ttT p.F265F NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 265 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TTTTAGCTGGGAATTTTTCTG 0.453000 17 52 0 0 0.010504 0 0 EIF2A 83939 broad.mit.edu 37 3 150264610 150264610 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:150264610C>T ENST00000460851.1 + 1 130 c.21C>T c.(19-21)ctC>ctT p.L7L EIF2A_ENST00000406576.3_Silent_p.L7L|EIF2A_ENST00000273435.5_Silent_p.L7L|EIF2A_ENST00000487799.1_Silent_p.L7L|SERP1_ENST00000479209.1_5'UTR Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa 7 L -> F (in Ref. 4; AAQ13612). regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CCACGCCGCTCTTGACAGGTG 0.562000 34 70 0 0 0.005524 0 0 STK33 65975 broad.mit.edu 37 11 8496233 8496233 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:8496233C>T ENST00000447869.1 - 1 1138 c.220G>A c.(220-222)Gat>Aat p.D74N STK33_ENST00000534493.1_Missense_Mutation_p.D33N|STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.D74N|STK33_ENST00000396673.1_Missense_Mutation_p.D74N|STK33_ENST00000315204.1_Missense_Mutation_p.D74N Q9BYT3 STK33_HUMAN serine/threonine kinase 33 74 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TTTACCAAATCTTTCCTGGAG 0.373000 3 16 0 0 0.004672 0 0 VHLL 391104 broad.mit.edu 37 1 156268622 156268622 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:156268622G>A ENST00000339922.3 - 1 806 c.359C>T c.(358-360)cCa>cTa p.P120L NM_001004319.2 NP_001004319.1 Q6RSH7 VHLL_HUMAN von Hippel-Lindau tumor suppressor-like 120 Beta-domain. protein ubiquitination nucleus endometrium(1)|lung(2)|ovary(1) 4 Hepatocellular(266;0.158) ATTGGAAGATGGCACAAACAA 0.478000 32 74 0 0 0.002836 0 0 SCN5A 6331 broad.mit.edu 37 3 38671874 38671874 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38671874G>A ENST00000413689.1 - 3 513 c.320C>T c.(319-321)gCc>gTc p.A107V SCN5A_ENST00000450102.2_Missense_Mutation_p.A107V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A107V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A107V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A107V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A107V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A107V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A107V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A107V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A107V NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 107 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCGTTGGTGGCACTGAACCG 0.512000 30 89 0 0 0.002836 0 0 TIAM1 7074 broad.mit.edu 37 21 32519304 32519304 + Silent SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:32519304C>A ENST00000286827.3 - 21 3855 c.3384G>T c.(3382-3384)ctG>ctT p.L1128L TIAM1_ENST00000541036.1_Silent_p.L1068L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1128 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ATGATCCCCCCAGAGAGAACA 0.502000 12 35 0.00010058 0.000115626 0.001368 1 0 PIM2 11040 broad.mit.edu 37 X 48776078 48776078 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:48776078G>A ENST00000376509.4 - 1 223 c.34C>T c.(34-36)Ccc>Tcc p.P12S NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN pim-2 oncogene 12 anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 GTCCCGGGGGGCGCGGGAGGC 0.706000 19 11 0 0 0.004656 0 0 CASC5 57082 broad.mit.edu 37 15 40921491 40921491 + Silent SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:40921491A>T ENST00000346991.5 + 14 6072 c.5682A>T c.(5680-5682)atA>atT p.I1894I CASC5_ENST00000399668.2_Silent_p.I1868I Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1894 Necessary for kinetochore localization and for interaction with NSL1 and DSN1. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) ATGGGAGAATAACAATAAGGG 0.378000 10 14 0 0 0.008291 0 0 STON2 85439 broad.mit.edu 37 14 81744041 81744041 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:81744041G>A ENST00000555447.1 - 6 2026 c.1614C>T c.(1612-1614)ttC>ttT p.F538F STON2_ENST00000267540.2_Silent_p.F538F NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 538 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TGAAACTCAGGAAGTCATCGT 0.488000 31 52 0 0 0.007291 0 0 HNRNPU 3192 broad.mit.edu 37 1 245019892 245019892 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:245019892C>T ENST00000444376.2 - 10 1956 c.1722G>A c.(1720-1722)atG>atA p.M574I HNRNPU_ENST00000283179.9_Missense_Mutation_p.M593I NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 593 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CAAACAGGCACATTTTTCTCC 0.373000 30 33 0 0 0.008361 0 0 ZNF763 284390 broad.mit.edu 37 19 12089398 12089398 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:12089398G>A ENST00000343949.5 + 4 823 c.668G>A c.(667-669)aGa>aAa p.R223K ZNF763_ENST00000538752.1_Missense_Mutation_p.R240K|ZNF763_ENST00000590798.1_Missense_Mutation_p.R240K|ZNF763_ENST00000545530.1_Missense_Mutation_p.R98K|ZNF763_ENST00000358987.3_Missense_Mutation_p.R220K NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 ATCCATGAAAGAACTCACACT 0.383000 28 50 0 0 0.004656 0 0 DNAH5 1767 broad.mit.edu 37 5 13771003 13771003 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13771003C>T ENST00000265104.4 - 56 9564 c.9460G>A c.(9460-9462)Gat>Aat p.D3154N DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3154 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCCACCCCATCCTGGAAGGAG 0.448000 Kartagener syndrome 27 53 0 0 0.004656 0 0 COL21A1 81578 broad.mit.edu 37 6 56035908 56035908 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:56035908C>T ENST00000244728.5 - 4 1056 c.659G>A c.(658-660)cGa>cAa p.R220Q COL21A1_ENST00000370819.1_Missense_Mutation_p.R220Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R220Q NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 220 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CACTGGAATTCGTGTTGGACA 0.323000 20 52 0 0 0.003954 0 0 USH1C 10083 broad.mit.edu 37 11 17547960 17547960 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:17547960C>T ENST00000005226.7 - 8 607 c.608G>A c.(607-609)gGa>gAa p.G203E USH1C_ENST00000527020.1_Missense_Mutation_p.G203E|USH1C_ENST00000318024.4_Missense_Mutation_p.G203E|USH1C_ENST00000527720.1_Missense_Mutation_p.G172E NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 203 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 TTCCCGATTTCCAGGGGAGCC 0.597000 15 21 0 0 0.006122 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47423875 47423875 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:47423875T>C ENST00000404338.3 + 1 1943 c.1943T>C c.(1942-1944)gTg>gCg p.V648A NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 648 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity AGGCTTCCTGTGAACTCTTTC 0.438000 28 61 0 0 0.009535 0 0 FEM1A 55527 broad.mit.edu 37 19 4792693 4792693 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:4792693C>T ENST00000269856.3 + 1 966 c.827C>T c.(826-828)tCc>tTc p.S276F AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 276 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TGCAGCTCCTCCCCAGAGGAA 0.647000 10 48 0 0 0.000978 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257666 9257666 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:9257666C>T ENST00000383440.2 + 8 4589 c.4332C>T c.(4330-4332)tcC>tcT p.S1444S ANKRD12_ENST00000400020.3_Silent_p.S1444S|ANKRD12_ENST00000262126.3_Silent_p.S1467S NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1467 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ATTTTTTATCCCTGCGCCAGA 0.428000 12 45 0 0 0.001368 0 0 AGAP7 653268 broad.mit.edu 37 10 51465424 51465424 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:51465424C>T ENST00000374095.5 - 7 1157 c.1032G>A c.(1030-1032)atG>atA p.M344I NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 344 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 GCCCGGTGTCCATGTCCTTGG 0.552000 83 91 0 0 0.003610 0 0 GH2 2689 broad.mit.edu 37 17 61958410 61958410 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:61958410C>T ENST00000332800.7 - 3 403 c.270G>A c.(268-270)agG>agA p.R90R GH2_ENST00000449787.2_Silent_p.R75R|GH2_ENST00000423893.2_Silent_p.R90R|GH2_ENST00000456543.2_Silent_p.R90R NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 90 R -> W (in dbSNP:rs5389). extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 GCGTTTTCACCCTGTTGGAAG 0.557000 35 156 0 0 0.004878 0 0 COL8A1 1295 broad.mit.edu 37 3 99513110 99513110 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:99513110C>T ENST00000261037.3 + 5 745 c.365C>T c.(364-366)cCc>cTc p.P122L COL8A1_ENST00000273342.4_Missense_Mutation_p.P122L NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 122 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GAACAAGGTCCCCGTGGAGAG 0.527000 14 24 0 0 0.006122 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256521 24256521 + Silent SNP G G A rs141164035 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:24256521G>A ENST00000538205.1 + 10 1207 c.660G>A c.(658-660)ggG>ggA p.G220G RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.G220G|ADAMDEC1_ENST00000256412.4_Silent_p.G299G|RP11-624C23.1_ENST00000523578.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 299 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.G299G(1) NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CTAACCTGGGGAAAAAGATCC 0.512000 14 44 0 0 0.003163 0 0 CSMD3 114788 broad.mit.edu 37 8 114031403 114031403 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:114031403G>A ENST00000297405.5 - 6 1167 c.923C>T c.(922-924)tCt>tTt p.S308F CSMD3_ENST00000455883.2_Missense_Mutation_p.S308F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S308F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S268F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 308 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTCATTCCAGATAACCTGAA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 49 0 0 0.006320 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77465339 77465339 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:77465339C>T ENST00000282849.5 - 3 766 c.348G>A c.(346-348)gcG>gcA p.A116A ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 116 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGCTCAAAATCGCCGAGGGCT 0.483000 68 54 0 0 0.003610 0 0 DNAH17 8632 broad.mit.edu 37 17 76522762 76522762 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:76522762C>T ENST00000389840.5 - 24 3806 c.3682G>A c.(3682-3684)Gac>Aac p.D1228N DNAH17_ENST00000585328.1_Missense_Mutation_p.D1225N dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGGTTGGGGTCGCTGAAGGAG 0.537000 8 18 0 0 0.006214 0 0 CNGB1 1258 broad.mit.edu 37 16 57935322 57935322 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:57935322C>T ENST00000564448.1 - 29 2952 c.2892G>A c.(2890-2892)atG>atA p.M964I CNGB1_ENST00000251102.8_Missense_Mutation_p.M970I Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 970 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 TGTCAAAGATCATCTGCCGGT 0.572000 34 34 0 0 0.003271 0 0 PCSK1 5122 broad.mit.edu 37 5 95734685 95734685 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:95734685C>T ENST00000311106.3 - 11 1723 c.1486G>A c.(1486-1488)Gga>Aga p.G496R CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.G449R NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 496 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTTCTTGTCCTTCACAAGCT 0.373000 7 23 0 0 0.001984 0 0 CD200R1 131450 broad.mit.edu 37 3 112666766 112666766 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:112666766C>T ENST00000308611.3 - 2 337 c.73G>A c.(73-75)Gag>Aag p.E25K CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000471858.1_Intron|CD200R1_ENST00000490004.1_Intron|CD200R1_ENST00000440122.2_Missense_Mutation_p.E25K NM_138806.3 NP_620161.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 22 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 GCAGCACCCTCCGCTTCTGAA 0.363000 14 35 0 0 0.003163 0 0 LGALS12 85329 broad.mit.edu 37 11 63283073 63283073 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:63283073C>T ENST00000415491.2 + 7 1183 c.569C>T c.(568-570)cCt>cTt p.P190L LGALS12_ENST00000255684.5_Missense_Mutation_p.P242L|LGALS12_ENST00000340246.5_Missense_Mutation_p.P252L|LGALS12_ENST00000394618.3_Missense_Mutation_p.P251L|LGALS12_ENST00000425950.2_Missense_Mutation_p.P181L NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 251 apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 GCCCATGCTCCTGTGACACTC 0.597000 12 45 0 0 0.001368 0 0 BDKRB2 624 broad.mit.edu 37 14 96703494 96703494 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:96703494C>T ENST00000306005.3 + 2 246 c.50C>T c.(49-51)tCc>tTc p.S17F RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.S17F|BDKRB2_ENST00000554311.1_Missense_Mutation_p.S17F|BDKRB2_ENST00000542454.2_5'UTR|BDKRB2_ENST00000539359.1_5'UTR NM_000623.3 NP_000614.1 P30411 BKRB2_HUMAN bradykinin receptor B2 17 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CGTGAGGACTCCGTGCCCACC 0.532000 39 62 0 0 0.009718 0 0 WNT5A 7474 broad.mit.edu 37 3 55508524 55508524 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:55508524C>T ENST00000474267.1 - 5 1046 c.525G>A c.(523-525)cgG>cgA p.R175R WNT5A_ENST00000497027.1_Silent_p.R160R|WNT5A_ENST00000264634.4_Silent_p.R175R P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 175 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) AGAGCCAGTCCCGCGGCAGGT 0.726000 4 5 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179542396 179542396 + Nonsense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179542396C>A ENST00000589042.1 - 146 34467 c.34243G>T c.(34243-34245)Gaa>Taa p.E11415* TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.E10171*|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E11098*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11098 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGACTTCTTCTTCAGGTACA 0.443000 25 49 5.45024e-15 6.3077e-15 0.003330 1 0 SORCS2 57537 broad.mit.edu 37 4 7716918 7716918 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:7716918G>A ENST00000507866.2 + 17 2241 c.2132G>A c.(2131-2133)gGa>gAa p.G711E SORCS2_ENST00000329016.9_Missense_Mutation_p.G539E NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 711 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 AGCGACTACGGATTTGAGCGC 0.597000 38 58 0 0 0.002522 0 0 FOXN1 8456 broad.mit.edu 37 17 26856216 26856216 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:26856216C>T ENST00000226247.2 + 4 833 c.804C>T c.(802-804)ctC>ctT p.L268L FOXN1_ENST00000579795.1_Silent_p.L268L NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 268 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) ACCAGCCTCTCTTCCCAAAAC 0.597000 48 58 0 0 0.003610 0 0 SON 6651 broad.mit.edu 37 21 34927501 34927501 + Silent SNP T T C rs139304331 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:34927501T>C ENST00000356577.4 + 3 6439 c.5964T>C c.(5962-5964)ccT>ccC p.P1988P SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.P1988P|SON_ENST00000290239.6_Silent_p.P1988P|SON_ENST00000300278.4_Silent_p.P1988P NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1988 2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS]. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 gccgcacccctagccgtcgga 0.697000 20 34 0 0 0.002299 0 0 NPY1R 4886 broad.mit.edu 37 4 164247183 164247183 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:164247183A>T ENST00000296533.2 - 2 1055 c.524T>A c.(523-525)aTc>aAc p.I175N NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 175 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TACTTGGTAGATCAGGAAAGG 0.423000 17 21 0 0 0.004007 0 0 ATP1A3 478 broad.mit.edu 37 19 42479941 42479941 + Silent SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:42479941A>T ENST00000545399.1 - 16 2295 c.2142T>A c.(2140-2142)atT>atA p.I714I ATP1A3_ENST00000543770.1_Silent_p.I712I|ATP1A3_ENST00000602133.1_Silent_p.I671I|ATP1A3_ENST00000302102.5_Silent_p.I701I NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 701 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TCACAGCCACAATTGCACCCT 0.637000 32 76 0 0 0.002445 0 0 AMBRA1 55626 broad.mit.edu 37 11 46567280 46567280 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:46567280G>A ENST00000458649.2 - 5 843 c.425C>T c.(424-426)tCc>tTc p.S142F AMBRA1_ENST00000314845.3_Missense_Mutation_p.S142F|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S142F|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S142F|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S142F|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S142F|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S142F Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 142 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GAAAGCCAGGGAGGCAATGGC 0.527000 23 44 0 0 0.002780 0 0 BOD1L2 284257 broad.mit.edu 37 18 54814936 54814936 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:54814936C>T ENST00000585477.1 + 1 644 c.393C>T c.(391-393)atC>atT p.I131I NM_001257964.1 NP_001244893.1 biorientation of chromosomes in cell division 1-like 2 TAAACCACATCTTCAGGCCAC 0.517000 4 25 0 0 0.000602 0 0 PLCG2 5336 broad.mit.edu 37 16 81960742 81960742 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:81960742G>A ENST00000359376.3 + 23 2687 c.2473G>A c.(2473-2475)Gag>Aag p.E825K NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 825 SH3. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CAACTACGTCGAGGACATCTC 0.522000 59 66 0 0 0.003610 0 0 NNAT 4826 broad.mit.edu 37 20 36151112 36151112 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:36151112G>A ENST00000062104.2 + 3 314 c.197G>A c.(196-198)cGg>cAg p.R66Q BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000373537.2_Intron|NNAT_ENST00000346199.2_Missense_Mutation_p.R39Q|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000414542.2_Intron NM_005386.2 NP_005377.1 Q16517 NNAT_HUMAN neuronatin 66 brain development|protein lipoylation|transport endometrium(1)|kidney(1)|lung(1) 3 Myeloproliferative disorder(115;0.00878) ACGGTGTCGCGGACCGGGCGG 0.652000 11 18 0 0 0.001855 0 0 PIM2 11040 broad.mit.edu 37 X 48776077 48776077 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:48776077G>A ENST00000376509.4 - 1 224 c.35C>T c.(34-36)cCc>cTc p.P12L NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN pim-2 oncogene 12 anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 GGTCCCGGGGGGCGCGGGAGG 0.701000 19 11 0 0 0.004656 0 0 SPINK13 153218 broad.mit.edu 37 5 147661795 147661795 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:147661795G>A ENST00000512953.1 + 5 767 c.e5+1 SPINK13_ENST00000398450.4_Splice_Site|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_Splice_Site Q1W4C9 ISK13_HUMAN serine peptidase inhibitor, Kazal type 13 (putative) extracellular region serine-type endopeptidase inhibitor activity breast(2)|lung(3) 5 ttgaacagaggtaagttcaga 0.383000 16 28 0 0 0.003163 0 0 RYR3 6263 broad.mit.edu 37 15 34105726 34105726 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:34105726G>A ENST00000389232.4 + 74 10518 c.10448G>A c.(10447-10449)cGg>cAg p.R3483Q RYR3_ENST00000415757.3_Missense_Mutation_p.R3478Q NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3483 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCAAAGCAACGGAAACGGGCA 0.512000 14 97 0 0 0.004007 0 0 RGL1 23179 broad.mit.edu 37 1 183711422 183711422 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:183711422G>A ENST00000304685.3 + 2 591 c.130G>A c.(130-132)Gag>Aag p.E44K RGL1_ENST00000367531.1_Missense_Mutation_p.E44K|RGL1_ENST00000536277.1_Missense_Mutation_p.E44K NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 0 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 AAAGACAGAGGAGGTAAGATG 0.438000 9 58 0 0 0.006214 0 0 MFSD7 84179 broad.mit.edu 37 4 680023 680023 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:680023C>T ENST00000322224.4 - 3 676 c.363G>A c.(361-363)ggG>ggA p.G121G MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000503156.1_Silent_p.G57G|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000404286.2_Silent_p.G121G Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 121 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 GGTTTTGGGTCCCAACAACCA 0.622000 12 26 0 0 0.001368 0 0 C6 729 broad.mit.edu 37 5 41143057 41143057 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:41143057C>T ENST00000263413.3 - 18 2939 c.2675G>A c.(2674-2676)gGa>gAa p.G892E C6_ENST00000337836.5_Missense_Mutation_p.G892E NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 892 C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GAGTTGGTTTCCACCCTTGAA 0.443000 26 44 0 0 0.005443 0 0 CCDC57 284001 broad.mit.edu 37 17 80159600 80159600 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:80159600T>C ENST00000389641.4 - 2 257 c.221A>G c.(220-222)tAt>tGt p.Y74C CCDC57_ENST00000392343.3_Missense_Mutation_p.Y74C|CCDC57_ENST00000392347.1_Missense_Mutation_p.Y74C Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 74 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GGCGGCGTCATAGCGCTCCAG 0.652000 11 43 0 0 0.000978 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364271 47364271 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:47364271G>A ENST00000399249.2 - 16 1536 c.1482C>T c.(1480-1482)acC>acT p.T494T MYBPC3_ENST00000256993.4_Silent_p.T493T|MYBPC3_ENST00000545968.1_Silent_p.T494T Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 493 Ig-like C2-type 3. R -> G (in CMH4).|R -> Q (in CMH4). cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) TCTCCTCCCGGGTCAGCTCCA 0.622000 44 73 0 0 0.003610 0 0 ZNF451 26036 broad.mit.edu 37 6 57012021 57012021 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:57012021C>T ENST00000370706.4 + 10 1382 c.1138C>T c.(1138-1140)Cat>Tat p.H380Y RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H380Y|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H380Y|RP11-203B9.4_ENST00000588811.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CACCCAAAATCATAAGCAGAA 0.423000 13 44 0 0 0.004007 0 0 PTGS2 5743 broad.mit.edu 37 1 186646891 186646891 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:186646891G>A ENST00000367468.5 - 5 665 c.529C>T c.(529-531)Ccc>Tcc p.P177S PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 177 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GAGCCCTGGGGATCAGGGATG 0.423000 20 34 0 0 0.008871 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691095 18691095 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:18691095G>A ENST00000433979.1 + 24 3322 c.3206G>A c.(3205-3207)cGa>cAa p.R1069Q PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1110Q|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R1069Q NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1069 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TACAGGGACCGAGCTCCTTTC 0.368000 16 55 0 0 0.004007 0 0 STK10 6793 broad.mit.edu 37 5 171471913 171471913 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:171471913G>A ENST00000176763.5 - 19 3223 c.2880C>T c.(2878-2880)ttC>ttT p.F960F NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 960 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AACTGTAGGGGAAGAACTTGG 0.582000 22 58 0 0 0.002299 0 0 SSX9 280660 broad.mit.edu 37 X 48159148 48159148 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:48159148C>T ENST00000376909.1 - 6 447 c.385G>A c.(385-387)Gca>Aca p.A129T SSX9_ENST00000407081.2_Missense_Mutation_p.A129T breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 AAGCCAGATGCTTCTGGCACT 0.453000 123 61 0 0 0.003610 0 0 CD180 4064 broad.mit.edu 37 5 66480226 66480226 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:66480226C>T ENST00000256447.4 - 3 602 c.445G>A c.(445-447)Gaa>Aaa p.E149K NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 149 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TCCAAGTTTTCCAGATTGTGC 0.418000 48 94 0 0 0.003610 0 0 MDM1 56890 broad.mit.edu 37 12 68696423 68696423 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:68696423C>G ENST00000303145.7 - 12 2035 c.1949G>C c.(1948-1950)aGa>aCa p.R650T MDM1_ENST00000540418.1_Missense_Mutation_p.R370T|MDM1_ENST00000411698.2_Missense_Mutation_p.R615T NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 650 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CTCTGGATCTCTAAGAGAGCC 0.383000 16 615 0 0 0.006122 0 0 TMOD3 29766 broad.mit.edu 37 15 52192439 52192439 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:52192439C>T ENST00000308580.7 + 8 1104 c.823C>T c.(823-825)Ctg>Ttg p.L275L TMOD3_ENST00000544199.1_Silent_p.L275L|RP11-56B16.5_ENST00000558142.1_RNA NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 275 cytoplasm|cytoskeleton actin binding|tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) GATTCTGGCACTGATTGATGC 0.418000 13 27 0 0 0.001855 0 0 LRP1B 53353 broad.mit.edu 37 2 141122354 141122354 + Splice_Site SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:141122354T>C ENST00000389484.3 - 72 11980 c.e72-2 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATTTCCTCCTTTATTTTAAA 0.378000 TSP Lung(27;0.18) 35 86 0 0 0.005524 0 0 KLKB1 3818 broad.mit.edu 37 4 187179221 187179221 + Missense_Mutation SNP G G A rs146525902 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:187179221G>A ENST00000264690.6 + 15 1959 c.1772G>A c.(1771-1773)cGt>cAt p.R591H KLKB1_ENST00000513864.1_Silent_p.A544A NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 591 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GGAATGTGGCGTTTGGTGGGC 0.473000 13 75 0 0 0.004990 0 0 SGIP1 84251 broad.mit.edu 37 1 67147836 67147836 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:67147836C>T ENST00000371037.4 + 15 1176 c.1099C>T c.(1099-1101)Cct>Tct p.P367S SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P371S NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 367 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 TCCTGGGCCTCCTCGCAATGT 0.567000 56 152 0 0 0.003610 0 0 PCDH9 5101 broad.mit.edu 37 13 67799944 67799944 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:67799944G>A ENST00000544246.1 - 2 3320 c.2629C>T c.(2629-2631)Ccc>Tcc p.P877S PCDH9_ENST00000377865.2_Missense_Mutation_p.P877S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P877S|PCDH9_ENST00000377861.3_Missense_Mutation_p.P877S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P877S NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 877 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GAGCTTTTGGGAGACTTCCTT 0.443000 17 71 0 0 0.004007 0 0 GUCY2F 2986 broad.mit.edu 37 X 108718988 108718988 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:108718988G>A ENST00000218006.2 - 2 469 c.178C>T c.(178-180)Cct>Tct p.P60S NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 60 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CAAGCCCAAGGGCCCACCACC 0.552000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 18 0 0 0.003330 0 0 ERG 2078 broad.mit.edu 37 21 39774508 39774508 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:39774508G>A ENST00000442448.1 - 7 936 c.665C>T c.(664-666)tCt>tTt p.S222F ERG_ENST00000398905.1_Missense_Mutation_p.S215F|ERG_ENST00000398907.1_Missense_Mutation_p.S215F|ERG_ENST00000398897.1_Missense_Mutation_p.S123F|ERG_ENST00000417133.2_Missense_Mutation_p.S222F|ERG_ENST00000398911.1_Missense_Mutation_p.S222F|ERG_ENST00000398910.1_Missense_Mutation_p.S222F|ERG_ENST00000453032.2_Missense_Mutation_p.S123F|ERG_ENST00000429727.2_Intron|ERG_ENST00000288319.7_Missense_Mutation_p.S215F|ERG_ENST00000398919.2_Missense_Mutation_p.S222F NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 222 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) TAACCGTGGAGAGTTTTGTAA 0.438000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 14 38 0 0 0.004990 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999848 46999848 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:46999848C>G ENST00000374314.4 + 1 1923 c.968C>G c.(967-969)gCc>gGc p.A323G GPRIN2_ENST00000374317.1_Missense_Mutation_p.A323G O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 323 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 AATGACTTGGCCCCTGCAGAG 0.647000 14 46 0 0 0.004007 0 0 FER1L6 654463 broad.mit.edu 37 8 125061927 125061927 + Nonsense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:125061927T>A ENST00000522917.1 + 22 3010 c.2804T>A c.(2803-2805)tTa>tAa p.L935* FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.L935* NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 935 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCCCCCAGGTTATGCTATCAC 0.502000 29 52 0 0 0.007291 0 0 MT1A 4489 broad.mit.edu 37 16 56673228 56673228 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:56673228C>T ENST00000290705.8 + 2 154 c.81C>T c.(79-81)acC>acT p.T27T NM_005946.2 NP_005937.2 P04731 MT1A_HUMAN metallothionein 1A 27 Beta. T -> N (in dbSNP:rs11640851). cytoplasm cadmium ion binding|copper ion binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(1) 3 GCAAATGCACCTCCTGCAAGA 0.527000 13 19 0 0 0.004990 0 0 CHFR 55743 broad.mit.edu 37 12 133438076 133438076 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:133438076G>A ENST00000266880.7 - 7 827 c.764C>T c.(763-765)cCc>cTc p.P255L CHFR_ENST00000315585.7_Missense_Mutation_p.P214L|CHFR_ENST00000443047.2_Missense_Mutation_p.P163L|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.P243L|CHFR_ENST00000432561.2_Missense_Mutation_p.P255L Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 255 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CTTCTTCACGGGCTCCAAATC 0.567000 21 57 0 0 0.003330 0 0 AE000661.37 0 broad.mit.edu 37 14 22932242 22932242 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:22932242G>A ENST00000514473.2 - 0 225 TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA AGATTATGGGGAACAAGAATT 0.423000 24 31 0 0 0.005443 0 0 HCN4 10021 broad.mit.edu 37 15 73635884 73635884 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:73635884G>A ENST00000261917.3 - 2 2044 c.1051C>T c.(1051-1053)Ccc>Tcc p.P351S NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 351 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TAGTCCACGGGGATGGAGGAA 0.527000 41 44 0 0 0.002852 0 0 NUB1 51667 broad.mit.edu 37 7 151065825 151065825 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:151065825G>A ENST00000568733.1 + 11 1238 c.1172G>A c.(1171-1173)cGt>cAt p.R391H NUB1_ENST00000413040.2_Missense_Mutation_p.R391H|NUB1_ENST00000355851.4_Missense_Mutation_p.R367H|NUB1_ENST00000566856.1_Missense_Mutation_p.R367H Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 367 UBA 1. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) CTCTAGGCACGTCAGCTCTTT 0.418000 OREG0018452 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 168 65 0 0 0.003610 0 0 TH 7054 broad.mit.edu 37 11 2189797 2189797 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:2189797G>A ENST00000381178.1 - 4 522 c.504C>T c.(502-504)cgC>cgT p.R168R TH_ENST00000352909.3_Silent_p.R137R|TH_ENST00000333684.5_Silent_p.R141R|TH_ENST00000381175.1_Silent_p.R164R NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 168 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) GGTCCCCTCGGCGCACCTCGA 0.682000 8 23 0 0 0.003080 0 0 FGA 2243 broad.mit.edu 37 4 155505503 155505503 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:155505503C>T ENST00000302053.3 - 6 2452 c.2374G>A c.(2374-2376)Gca>Aca p.A792T NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 792 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CACTGGTCTGCATCCCTGTCA 0.527000 32 60 0 0 0.002096 0 0 PCK1 5105 broad.mit.edu 37 20 56138725 56138725 + Silent SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:56138725C>G ENST00000319441.4 + 6 1067 c.903C>G c.(901-903)ccC>ccG p.P301P PCK1_ENST00000535860.1_Silent_p.P169P|PCK1_ENST00000543666.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 301 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCAGCCTCCCCGGGTGGAAGG 0.557000 56 68 0 0 0.003610 0 0 FRYL 285527 broad.mit.edu 37 4 48597683 48597683 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:48597683G>A ENST00000537810.1 - 15 1776 c.1172C>T c.(1171-1173)cCa>cTa p.P391L FRYL_ENST00000506685.1_Missense_Mutation_p.P97L|FRYL_ENST00000507711.1_Missense_Mutation_p.P391L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.P391L|FRYL_ENST00000358350.4_Missense_Mutation_p.P391L O94915 FRYL_HUMAN FRY-like 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TGAGCCTTTTGGAAAAAGTGC 0.388000 7 26 0 0 0.004482 0 0 SKAP1 8631 broad.mit.edu 37 17 46474085 46474085 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:46474085G>A ENST00000336915.6 - 2 178 c.109C>T c.(109-111)Cac>Tac p.H37Y SKAP1_ENST00000584924.1_Missense_Mutation_p.H37Y NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 37 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 TGGTCTCTGTGATCCCTTGCA 0.378000 109 127 0 0 0.003610 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106692072 106692072 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:106692072G>A ENST00000390607.2 - 0 125 ACTTTTCCATGATTCACCTTC 0.478000 47 93 0 0 0.003610 0 0 TTC39A 22996 broad.mit.edu 37 1 51753901 51753901 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:51753901C>T ENST00000447632.2 - 18 1818 c.1770G>A c.(1768-1770)caG>caA p.Q590Q TTC39A_ENST00000451380.1_Silent_p.Q554Q|TTC39A_ENST00000262675.7_Silent_p.Q527Q|TTC39A_ENST00000530004.1_Silent_p.Q198Q|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000371750.5_Silent_p.Q555Q|TTC39A_ENST00000413473.2_Silent_p.Q558Q Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A 590 binding p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 GTGTGGCTGCCTGGATTCGAA 0.512000 18 49 0 0 0.008871 0 0 KIAA1009 22832 broad.mit.edu 37 6 84895009 84895009 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:84895009G>A ENST00000403245.3 - 13 1673 c.1559C>T c.(1558-1560)tCa>tTa p.S520L KIAA1009_ENST00000257766.4_Missense_Mutation_p.S444L|KIAA1009_ENST00000461137.1_5'UTR NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 520 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CTTGAGTGGTGAACTGGGTTT 0.408000 56 121 0 0 0.003610 0 0 RRP1 8568 broad.mit.edu 37 21 45217384 45217384 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:45217384C>T ENST00000497547.1 + 6 621 c.504C>T c.(502-504)caC>caT p.H168H RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 168 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TGAAGAGCCACTTCATCGAGA 0.602000 16 30 0 0 0.004007 0 0 TATDN2 9797 broad.mit.edu 37 3 10311938 10311938 + Missense_Mutation SNP C C T rs139610197 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:10311938C>T ENST00000287652.4 + 4 2123 c.1072C>T c.(1072-1074)Ccg>Tcg p.P358S RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.P358S NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 358 P -> L (in dbSNP:rs2075352). nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 TTCAGCCGTTCCGGAGCCTTC 0.532000 53 111 0 0 0.003610 0 0 POM121L12 285877 broad.mit.edu 37 7 53103793 53103793 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:53103793C>T ENST00000408890.4 + 1 445 c.429C>T c.(427-429)ccC>ccT p.P143P NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 143 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGATCGCGCCCCCTGAGCGTC 0.711000 12 20 0 0 0.002450 0 0 ABCA10 10349 broad.mit.edu 37 17 67178296 67178296 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:67178296G>A ENST00000269081.4 - 23 3676 c.2767C>T c.(2767-2769)Cgt>Tgt p.R923C ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 923 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CTACTTACACGAGAAAATGAA 0.393000 8 21 0 0 0.003080 0 0 SNHG14 104472715 broad.mit.edu 37 15 25333045 25333045 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:25333045G>A ENST00000546682.1 + 0 586 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 CCATGTATAGGAAATTTCTTG 0.478000 3 2 0 0 0.004672 0 0 C1orf87 127795 broad.mit.edu 37 1 60506689 60506689 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:60506689C>T ENST00000371201.3 - 4 564 c.457G>A c.(457-459)Gtg>Atg p.V153M C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 153 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CTGCCTCTCACCATCTGTTCC 0.463000 31 107 0 0 0.009535 0 0 GBX1 2636 broad.mit.edu 37 7 150846056 150846056 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:150846056C>T ENST00000297537.4 - 2 711 c.712G>A c.(712-714)Gga>Aga p.G238R NM_001098834.1 NP_001092304.1 Q14549 GBX1_HUMAN gastrulation brain homeobox 1 238 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCAGGCTTCCCTTTAGCTTC 0.642000 48 185 0 0 0.003610 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033984 52033984 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:52033984G>A ENST00000346477.3 - 3 725 c.657C>T c.(655-657)ttC>ttT p.F219F SIGLEC6_ENST00000359982.4_Silent_p.F219F|SIGLEC6_ENST00000436458.1_Silent_p.F183F|SIGLEC6_ENST00000343300.4_Silent_p.F219F|SIGLEC6_ENST00000391797.3_Silent_p.F208F|SIGLEC6_ENST00000425629.3_Silent_p.F219F NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 219 Ig-like C2-type 1. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CGGCTCCAGGGAACGTCACCT 0.667000 39 66 0 0 0.008740 0 0 MYOCD 93649 broad.mit.edu 37 17 12666456 12666456 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:12666456C>T ENST00000425538.1 + 14 2656 c.2456C>T c.(2455-2457)tCc>tTc p.S819F MYOCD_ENST00000343344.4_Missense_Mutation_p.S771F|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 771 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCCAGATCTTCCCGAAGTCCA 0.498000 16 89 0 0 0.004990 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333934 28333934 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:28333934G>A ENST00000377255.3 + 7 1786 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.E349K|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.E497K NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 497 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 AGGCCTCATTGAACATCAAAA 0.398000 16 32 0 0 0.003163 0 0 KL 9365 broad.mit.edu 37 13 33635593 33635593 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:33635593G>A ENST00000380099.3 + 4 2385 c.2377G>A c.(2377-2379)Gaa>Aaa p.E793K KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 793 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CACTGAAGATGAAAAAAAGCT 0.398000 18 33 0 0 0.004990 0 0 HIVEP2 3097 broad.mit.edu 37 6 143090907 143090907 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:143090907G>A ENST00000367603.2 - 5 5711 c.4969C>T c.(4969-4971)Ccc>Tcc p.P1657S HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1657S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1657S NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) ACATAATTGGGTTTTGTATAA 0.448000 27 39 0 0 0.005443 0 0 MACF1 23499 broad.mit.edu 37 1 39910341 39910341 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:39910341A>T ENST00000564288.1 + 80 20216 c.19439A>T c.(19438-19440)tAt>tTt p.Y6480F MACF1_ENST00000539005.1_Missense_Mutation_p.Y4291F|MACF1_ENST00000567887.1_Missense_Mutation_p.Y6517F|MACF1_ENST00000545844.1_Missense_Mutation_p.Y4421F|MACF1_ENST00000361689.2_Missense_Mutation_p.Y4421F|MACF1_ENST00000317713.7_Missense_Mutation_p.Y4421F|MACF1_ENST00000289893.4_Missense_Mutation_p.Y4923F|MACF1_ENST00000372915.3_Missense_Mutation_p.Y6379F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6489 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) TAGGAACTCTATTCCCAGCTG 0.448000 12 24 0 0 0.001368 0 0 SPARCL1 8404 broad.mit.edu 37 4 88411446 88411446 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:88411446C>T ENST00000418378.1 - 8 2081 c.1510G>A c.(1510-1512)Gat>Aat p.D504N SPARCL1_ENST00000282470.6_Missense_Mutation_p.D504N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D379N NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 504 Kazal-like. signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) CCAAAATAATCCAGCTGGAGT 0.458000 75 165 0 0 0.003610 0 0 IARS2 55699 broad.mit.edu 37 1 220315224 220315224 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:220315224C>T ENST00000366922.1 + 20 2609 c.2278C>T c.(2278-2280)Cgt>Tgt p.R760C IARS2_ENST00000302637.5_Missense_Mutation_p.R832C|IARS2_ENST00000467924.1_3'UTR Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 832 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TGTAATAGTTCGTTCTTTTGC 0.378000 16 98 0 0 0.003163 0 0 GUCY2D 3000 broad.mit.edu 37 17 7915790 7915790 + Missense_Mutation SNP G G A rs61750162 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:7915790G>A ENST00000254854.4 + 10 2129 c.1979G>A c.(1978-1980)cGa>cAa p.R660Q NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 660 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) CTGCACCATCGAGGCGTGGCT 0.587000 19 81 0 0 0.007413 0 0 HELQ 113510 broad.mit.edu 37 4 84348796 84348796 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:84348796G>A ENST00000295488.3 - 13 2758 c.2596C>T c.(2596-2598)Ctt>Ttt p.L866F HELQ_ENST00000510985.1_Missense_Mutation_p.L799F NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 866 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 AGATGAAGAAGGCTTTCAAGC 0.368000 Other identified genes with known or suspected DNA repair function 6 34 0 0 0.001984 0 0 DHRS13 147015 broad.mit.edu 37 17 27228608 27228608 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:27228608G>A ENST00000394901.3 - 2 515 c.123C>T c.(121-123)ttC>ttT p.F41F DHRS13_ENST00000426464.2_Intron|DHRS13_ENST00000378895.4_Silent_p.F91F Q6UX07 DHR13_HUMAN dehydrogenase/reductase (SDR family) member 13 91 extracellular region binding|oxidoreductase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 9 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) CCAAGGCCATGAAGATGACCT 0.587000 6 70 0 0 0.001984 0 0 SGK2 10110 broad.mit.edu 37 20 42198152 42198152 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:42198152G>A ENST00000373100.1 + 7 816 c.356G>A c.(355-357)gGa>gAa p.G119E SGK2_ENST00000373077.1_Missense_Mutation_p.G118E|SGK2_ENST00000373092.3_Missense_Mutation_p.G119E|SGK2_ENST00000341458.4_Missense_Mutation_p.G179E|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000426287.1_Missense_Mutation_p.G145E|SGK2_ENST00000423407.3_Missense_Mutation_p.G119E Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 179 Protein kinase. 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) GTCAACGGGGGAGAGGTGGGT 0.612000 46 53 0 0 0.003610 0 0 FER1L6 654463 broad.mit.edu 37 8 125103708 125103708 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:125103708T>A ENST00000522917.1 + 34 4642 c.4436T>A c.(4435-4437)aTc>aAc p.I1479N FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.I1479N NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1479 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCCACCGAAATCCTCACTAAG 0.453000 24 51 0 0 0.004656 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73464862 73464862 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:73464862C>T ENST00000556143.1 - 3 1365 c.645G>A c.(643-645)gaG>gaA p.E215E ZFYVE1_ENST00000553891.1_Silent_p.E215E|ZFYVE1_ENST00000318876.5_Silent_p.E215E NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 215 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CAGTGCAGGACTCCTGGGTCG 0.498000 11 48 0 0 0.000978 0 0 CTH 1491 broad.mit.edu 37 1 70881666 70881666 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:70881666C>T ENST00000411986.2 + 2 394 c.196C>T c.(196-198)Ccc>Tcc p.P66S CTH_ENST00000346806.2_Missense_Mutation_p.P66S|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000370938.3_Missense_Mutation_p.P66S NM_001190463.1 NP_001177392.1 P32929 CGL_HUMAN cystathionase (cystathionine gamma-lyase) 66 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TTCTGGAAATCCCACTAGGAA 0.358000 15 49 0 0 0.004990 0 0 RSPH6A 81492 broad.mit.edu 37 19 46308182 46308182 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:46308182G>A ENST00000221538.3 - 3 1123 c.981C>T c.(979-981)ttC>ttT p.F327F RSPH6A_ENST00000600188.1_Silent_p.F63F|RSPH6A_ENST00000597055.1_Silent_p.F327F NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 327 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 TCATGGCCAGGAAAATGCGGA 0.617000 20 33 0 0 0.008871 0 0 FBF1 85302 broad.mit.edu 37 17 73910122 73910122 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:73910122C>T ENST00000586717.1 - 26 3229 c.2956G>A c.(2956-2958)Gag>Aag p.E986K FBF1_ENST00000389570.4_Missense_Mutation_p.E987K|FBF1_ENST00000319129.5_Missense_Mutation_p.E986K A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 986 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 TCGTACTTCTCGGAGGCCACC 0.697000 6 10 0 0 0.004482 0 0 PDE1A 5136 broad.mit.edu 37 2 183387070 183387070 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:183387070C>T ENST00000435564.1 - 1 234 c.34G>A c.(34-36)Gaa>Aaa p.E12K PDE1A_ENST00000456212.1_Missense_Mutation_p.E12K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E12K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E12K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E12K NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 12 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) GTGGTGTTTTCCAATTCTTCA 0.423000 23 49 0 0 0.004656 0 0 FSTL1 11167 broad.mit.edu 37 3 120128466 120128466 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:120128466G>A ENST00000295633.3 - 6 731 c.375C>T c.(373-375)atC>atT p.I125I FSTL1_ENST00000424703.2_Silent_p.I90I NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 125 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) GCCACTGGATGATGCGACGTC 0.498000 24 51 0 0 0.003954 0 0 SEC16B 89866 broad.mit.edu 37 1 177935080 177935080 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:177935080A>G ENST00000308284.6 - 3 449 c.360T>C c.(358-360)gcT>gcC p.A120A RP4-798P15.3_ENST00000528461.1_Silent_p.A120A|SEC16B_ENST00000464631.1_Silent_p.A120A|RP4-798P15.3_ENST00000354921.2_5'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 120 Required for endoplasmic reticulum localization.|Tyr-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 AACTTCCATAAGCATATTCCT 0.458000 4 9 0 0 0.009096 0 0 THSD7B 80731 broad.mit.edu 37 2 137990579 137990579 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:137990579G>A ENST00000409968.1 + 9 2204 c.2026G>A c.(2026-2028)Gac>Aac p.D676N THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.D676N|THSD7B_ENST00000413152.2_Missense_Mutation_p.D645N thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTGTTCTGAGGACACATTGGT 0.512000 27 54 0 0 0.005443 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208831 140208831 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140208831G>A ENST00000529310.1 + 1 1269 c.1155G>A c.(1153-1155)gtG>gtA p.V385V PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Silent_p.V385V|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGGCAGGTGAACTGCTCGC 0.542000 57 127 0 0 0.003610 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36927333 36927333 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:36927333G>A ENST00000269554.3 - 8 1480 c.1000C>T c.(1000-1002)Cct>Tct p.P334S NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 334 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 AAGAACCGAGGAAAGCTGAGG 0.582000 5 51 0 0 0.001168 0 0 MVB12A 93343 broad.mit.edu 37 19 17533260 17533260 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:17533260C>T ENST00000317040.7 + 4 1461 c.406C>T c.(406-408)Cga>Tga p.R136* MVB12A_ENST00000528515.1_Intron|MVB12A_ENST00000529939.1_Nonsense_Mutation_p.R136*|MVB12A_ENST00000543795.1_Nonsense_Mutation_p.R136*|MVB12A_ENST00000392702.2_Nonsense_Mutation_p.R136* multivesicular body subunit 12A TGGATACCTTCGAATAGGGTA 0.582000 5 36 0 0 0.000602 0 0 LARGE 9215 broad.mit.edu 37 22 34046453 34046453 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:34046453G>A ENST00000354992.2 - 4 879 c.308C>T c.(307-309)tCc>tTc p.S103F LARGE_ENST00000402320.1_Missense_Mutation_p.S103F|LARGE_ENST00000437602.2_Missense_Mutation_p.S103F|LARGE_ENST00000337431.2_Missense_Mutation_p.S103F|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000397394.2_Missense_Mutation_p.S103F NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 103 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) CTCCTCCATGGAGTAGGTCTT 0.672000 30 62 0 0 0.002445 0 0 CHDC2 286464 broad.mit.edu 37 X 36162702 36162702 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:36162702G>A ENST00000378660.1 + 11 1473 c.1285G>A c.(1285-1287)Gag>Aag p.E429K CHDC2_ENST00000313548.4_Missense_Mutation_p.E429K calponin homology domain containing 2 gtttccaaaggagatggatgc 0.468000 14 14 0 0 0.003163 0 0 RASAL3 64926 broad.mit.edu 37 19 15569364 15569364 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:15569364G>A ENST00000343625.6 - 7 845 c.765C>T c.(763-765)ctC>ctT p.L255L NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 255 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 GCTCCCCCAGGAGGCTGGGGT 0.632000 8 20 0 0 0.004482 0 0 ABCC6 368 broad.mit.edu 37 16 16267203 16267203 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:16267203G>A ENST00000205557.7 - 21 2754 c.2725C>T c.(2725-2727)Cct>Tct p.P909S NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 909 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TCATCCAGAGGAACCTCTGTC 0.552000 26 30 0 0 0.004656 0 0 TMEM14E 645843 broad.mit.edu 37 3 152058585 152058585 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:152058585G>T ENST00000408960.3 - 1 194 c.109C>A c.(109-111)Cag>Aag p.Q37K MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000485509.1_Intron NM_001123228.1 NP_001116700.1 Q6UXP3 TM14E_HUMAN transmembrane protein 14E 37 integral to membrane lung(1) 1 GAAGGGGACTGGACAGAACCT 0.502000 21 44 1.37657e-19 1.59671e-19 0.001882 1 0 FAM154A 158297 broad.mit.edu 37 9 18928172 18928172 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:18928172C>T ENST00000380534.4 - 4 1582 c.1303G>A c.(1303-1305)Gtg>Atg p.V435M FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.V243M NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 435 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) AAAGCATCCACTTCCTCAAAG 0.507000 22 34 0 0 0.002780 0 0 AOX1 316 broad.mit.edu 37 2 201462153 201462153 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:201462153C>T ENST00000374700.2 + 4 475 c.234C>T c.(232-234)atC>atT p.I78I NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 78 2Fe-2S ferredoxin-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TGATTCCCATCTGTTCTCTGT 0.483000 20 51 0 0 0.010504 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765850 77765850 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:77765850G>A ENST00000521891.2 + 10 7141 c.6693G>A c.(6691-6693)acG>acA p.T2231T ZFHX4_ENST00000050961.6_Silent_p.T2186T|ZFHX4_ENST00000455469.2_Silent_p.T2186T|ZFHX4_ENST00000518282.1_Silent_p.T2205T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2186 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T2215T(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTTCTAGAACGAGATTTACTG 0.383000 HNSCC(33;0.089) 21 35 0 0 0.008871 0 0 PLCE1 51196 broad.mit.edu 37 10 96081674 96081674 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:96081674A>T ENST00000260766.3 + 30 6993 c.6359A>T c.(6358-6360)aAc>aTc p.N2120I PLCE1_ENST00000371380.2_Missense_Mutation_p.N2120I|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.N1812I|PLCE1_ENST00000371385.3_Missense_Mutation_p.N1812I NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 2120 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GAAGAGAAAAACATTGTTCAA 0.358000 9 10 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179664322 179664322 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179664322G>A ENST00000589042.1 - 6 1030 c.806C>T c.(805-807)cCg>cTg p.P269L TTN_ENST00000359218.5_Missense_Mutation_p.P269L|TTN_ENST00000342992.6_Missense_Mutation_p.P269L|TTN_ENST00000360870.5_Missense_Mutation_p.P269L|TTN_ENST00000460472.2_Missense_Mutation_p.P269L|TTN_ENST00000342175.6_Missense_Mutation_p.P269L|TTN_ENST00000591111.1_Missense_Mutation_p.P269L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 269 ZIS1. 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) AGCAATAGACGGTGGTGTTGG 0.582000 26 58 0 0 0.004656 0 0 PTCHD2 57540 broad.mit.edu 37 1 11562817 11562817 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:11562817C>T ENST00000294484.6 + 3 1317 c.1179C>T c.(1177-1179)tcC>tcT p.S393S PTCHD2_ENST00000389575.3_Silent_p.S393S NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 393 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TGAAGAGCTCCCTCCTGCGCA 0.572000 15 27 0 0 0.003163 0 0 LRFN2 57497 broad.mit.edu 37 6 40400441 40400441 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:40400441C>T ENST00000338305.6 - 2 954 c.412G>A c.(412-414)Ggc>Agc p.G138S NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 138 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TCTGCGATGCCGCCCAGCTGG 0.597000 11 38 0 0 0.001368 0 0 PCSK4 54760 broad.mit.edu 37 19 1487053 1487053 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:1487053C>T ENST00000300954.5 - 8 928 c.867G>A c.(865-867)ggG>ggA p.G289G NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 289 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGTGCCCAGCCCGCCGCGGC 0.697000 8 19 0 0 0.006214 0 0 RRP7A 27341 broad.mit.edu 37 22 42908928 42908928 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:42908928G>A ENST00000323013.6 - 7 846 c.831C>T c.(829-831)ttC>ttT p.F277F NM_015703.4 NP_056518.2 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A (S. cerevisiae) 277 nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 AGTACGGTCGGAATTTGCGCT 0.657000 12 19 0 0 0.001855 0 0 USP29 57663 broad.mit.edu 37 19 57642045 57642045 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:57642045A>G ENST00000254181.4 + 4 2456 c.2002A>G c.(2002-2004)Aag>Gag p.K668E USP29_ENST00000598197.1_Missense_Mutation_p.K668E NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 668 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGATGGAGGGAAGCTGATCAG 0.473000 18 33 0 0 0.007413 0 0 FAM47A 158724 broad.mit.edu 37 X 34150261 34150261 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:34150261G>A ENST00000346193.3 - 1 186 c.135C>T c.(133-135)acC>acT p.T45T NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 45 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CCCAGTTCTGGGTGTCCATGG 0.577000 29 23 0 0 0.007291 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919715 142919715 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:142919715G>A ENST00000408947.3 + 1 586 c.544G>A c.(544-546)Gag>Aag p.E182K NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 182 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) CAACTCCACGGAGAAGAAGTA 0.458000 87 84 0 0 0.003610 0 0 PAF1 54623 broad.mit.edu 37 19 39879204 39879204 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:39879204C>T ENST00000221265.3 - 10 1183 c.853G>A c.(853-855)Gat>Aat p.D285N PAF1_ENST00000221266.7_Missense_Mutation_p.D252N|PAF1_ENST00000595564.1_Missense_Mutation_p.D275N NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 285 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ACGCACACATCATCTGGTGCA 0.507000 46 67 0 0 0.003214 0 0 SLC35G2 80723 broad.mit.edu 37 3 136573917 136573917 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:136573917C>T ENST00000446465.2 + 2 1243 c.615C>T c.(613-615)ttC>ttT p.F205F RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.F205F|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 205 DUF6 1. Golgi apparatus|integral to membrane CTACAGTCTTCAGTGCCATTT 0.408000 23 60 0 0 0.002299 0 0 C2orf54 79919 broad.mit.edu 37 2 241826495 241826495 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:241826495C>T ENST00000307486.8 - 5 987 c.889G>A c.(889-891)Gag>Aag p.E297K C2orf54_ENST00000388934.4_Missense_Mutation_p.E446K|C2orf54_ENST00000402775.2_Missense_Mutation_p.E278K Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 446 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) GCTCAGCTCTCCTCGCCTCCC 0.572000 14 37 0 0 0.003163 0 0 ZNF569 148266 broad.mit.edu 37 19 37904033 37904033 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:37904033G>A ENST00000316950.6 - 6 2084 c.1527C>T c.(1525-1527)ttC>ttT p.F509F ZNF569_ENST00000392149.2_Silent_p.F509F|ZNF569_ENST00000392150.2_Silent_p.F350F NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATGTGTAATGAAGTTTTGCT 0.363000 13 46 0 0 0.001368 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175844 140175844 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:140175844C>T ENST00000526136.1 + 1 1295 c.1295C>T c.(1294-1296)tCg>tTg p.S432L PCDHA2_ENST00000378132.1_Missense_Mutation_p.S432L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S432L NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGGGGGCTCGCCTTCACTG 0.622000 37 88 0 0 0.003271 0 0 GC 2638 broad.mit.edu 37 4 72620730 72620730 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:72620730C>T ENST00000273951.8 - 9 1472 c.1129G>A c.(1129-1131)Gat>Aat p.D377N GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.D377N|GC_ENST00000504199.1_Missense_Mutation_p.D396N NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 377 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TCTTCAACATCACAGCATTCA 0.383000 11 38 0 0 0.002450 0 0 EPHA10 284656 broad.mit.edu 37 1 38184120 38184120 + Missense_Mutation SNP C C T rs150426144 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:38184120C>T ENST00000373048.4 - 17 2950 c.2951G>A c.(2950-2952)cGa>cAa p.R984Q EPHA10_ENST00000330210.7_Missense_Mutation_p.R479Q|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.R984Q NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 984 SAM. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity p.R985Q(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGGGCCTCTCGATGTTCAGC 0.617000 40 60 0 0 0.002852 0 0 NBPF9 400818 broad.mit.edu 37 1 144828544 144828544 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:144828544C>T ENST00000440491.2 + 16 1811 c.1811C>T c.(1810-1812)tCa>tTa p.S604L NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Silent_p.L530L|NBPF9_ENST00000281815.8_Silent_p.L128L NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TTTCCAGGCTCAACGGCGTGC 0.453000 20 126 0 0 0.003330 0 0 OR2G3 81469 broad.mit.edu 37 1 247769766 247769766 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:247769766G>A ENST00000320002.2 + 1 911 c.879G>A c.(877-879)agG>agA p.R293R RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATACTTTAAGGAACAAGGATA 0.423000 22 53 0 0 0.002780 0 0 SNAP91 9892 broad.mit.edu 37 6 84317473 84317473 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:84317473C>T ENST00000428679.2 - 13 1560 c.967G>A c.(967-969)Gac>Aac p.D323N SNAP91_ENST00000520302.1_Missense_Mutation_p.D321N|SNAP91_ENST00000521743.1_Missense_Mutation_p.D323N|SNAP91_ENST00000521485.1_Missense_Mutation_p.D323N|SNAP91_ENST00000369694.2_Missense_Mutation_p.D323N|SNAP91_ENST00000520213.1_Missense_Mutation_p.D307N|SNAP91_ENST00000195649.6_Missense_Mutation_p.D323N|SNAP91_ENST00000437520.1_Missense_Mutation_p.D307N|SNAP91_ENST00000439399.2_Missense_Mutation_p.D323N O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 323 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GGGGATGTGTCAATAGTTTTA 0.383000 5 6 0 0 0.003080 0 0 PDE6B 5158 broad.mit.edu 37 4 650789 650789 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:650789G>A ENST00000255622.6 + 9 1277 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K PDE6B_ENST00000496514.1_Missense_Mutation_p.E412K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E133K NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 412 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GCCCTTTGACGAACAGGACGA 0.597000 17 32 0 0 0.008871 0 0 DOCK9 23348 broad.mit.edu 37 13 99540745 99540745 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:99540745G>A ENST00000376460.1 - 17 1926 c.1846C>T c.(1846-1848)Ccc>Tcc p.P616S DOCK9_ENST00000448493.2_Missense_Mutation_p.P628S|DOCK9_ENST00000339416.2_Missense_Mutation_p.P617S|DOCK9_ENST00000442173.1_Missense_Mutation_p.P616S NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 617 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AACGTGATGGGAGTTTTACTG 0.363000 31 50 0 0 0.002096 0 0 TMC3 342125 broad.mit.edu 37 15 81627135 81627135 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:81627135C>T ENST00000558726.1 - 21 2523 c.2388G>A c.(2386-2388)ccG>ccA p.P796P RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.P795P|RP11-761I4.3_ENST00000560851.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 795 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 CCCCTGGCCTCGGGCTCTGGG 0.592000 19 90 0 0 0.008871 0 0 WNT9A 7483 broad.mit.edu 37 1 228109363 228109363 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:228109363G>A ENST00000272164.5 - 4 964 c.954C>T c.(952-954)aaC>aaT p.N318N WNT9A_ENST00000497852.1_Intron NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 318 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) TGCTCTCGCAGTTCTTCTCAC 0.647000 6 11 0 0 0.001168 0 0 TRRAP 8295 broad.mit.edu 37 7 98565207 98565207 + Silent SNP C C T rs139721649 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:98565207C>T ENST00000359863.4 + 50 7586 c.7377C>T c.(7375-7377)ttC>ttT p.F2459F TRRAP_ENST00000446306.3_Silent_p.F2441F|TRRAP_ENST00000355540.3_Silent_p.F2441F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2459 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 p.F2441F(2)|p.F2459F(1) 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) CAAAGTTTTTCGAGGTTTTTG 0.552000 72 32 0 0 0.003610 0 0 SDC1 6382 broad.mit.edu 37 2 20403773 20403773 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:20403773G>A ENST00000381150.1 - 4 818 c.428C>T c.(427-429)aCc>aTc p.T143I SDC1_ENST00000254351.4_Missense_Mutation_p.T143I|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Missense_Mutation_p.T143I NM_001006946.1 NP_001006947.1 P18827 SDC1_HUMAN syndecan 1 143 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CTGGGCCGTGGTGGCTGTGGT 0.692000 29 84 0 0 0.002836 0 0 GK2 2712 broad.mit.edu 37 4 80328892 80328892 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:80328892G>A ENST00000358842.3 - 1 480 c.463C>T c.(463-465)Cgt>Tgt p.R155C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 155 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 AGCATCCAACGAAGTTTTACT 0.408000 32 74 0 0 0.002096 0 0 KLK11 11012 broad.mit.edu 37 19 51528040 51528040 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:51528040C>T ENST00000594768.1 - 3 332 c.147G>A c.(145-147)ggG>ggA p.G49G KLK11_ENST00000391804.3_Silent_p.G17G|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_Silent_p.G17G|KLK11_ENST00000453757.3_Silent_p.G17G|KLK11_ENST00000600362.1_Intron NM_144947.1 NP_659196.1 Q9UBX7 KLK11_HUMAN kallikrein-related peptidase 11 49 G -> E (in dbSNP:rs3745539). proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) TGGTCTCTCCCCCTACAAGCC 0.617000 10 12 0 0 0.000978 0 0 DSG4 147409 broad.mit.edu 37 18 28966657 28966657 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:28966657G>A ENST00000359747.4 + 3 120 c.91G>A c.(91-93)Gaa>Aaa p.E31K RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E31K|RP11-534N16.1_ENST00000581452.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 31 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TAAGGTGAAGGAATTTGACAT 0.383000 10 43 0 0 0.008291 0 0 NBEA 26960 broad.mit.edu 37 13 35615209 35615209 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:35615209G>A ENST00000400445.3 + 2 968 c.434G>A c.(433-435)cGa>cAa p.R145Q NBEA_ENST00000379939.2_Missense_Mutation_p.R145Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R145Q|NBEA_ENST00000540320.1_Missense_Mutation_p.R145Q NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 145 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCCATTCTACGAAAAAGTGTT 0.408000 30 56 0 0 0.007291 0 0 PXDNL 137902 broad.mit.edu 37 8 52321488 52321488 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:52321488A>T ENST00000356297.4 - 17 2796 c.2696T>A c.(2695-2697)gTt>gAt p.V899D PXDNL_ENST00000543296.1_Missense_Mutation_p.V899D NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 899 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCTCCCGTAAACGTTGGAGCC 0.622000 18 49 0 0 0.010504 0 0 FBXO4 26272 broad.mit.edu 37 5 41941382 41941382 + Nonstop_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:41941382G>T ENST00000281623.3 + 7 1219 c.1163G>T c.(1162-1164)tGa>tTa p.*388L FBXO4_ENST00000509134.1_3'UTR NM_012176.2 NP_036308.1 Q9UKT5 FBX4_HUMAN F-box protein 4 0 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) CGTGCAAGATGATTCTCTTTT 0.408000 13 40 6.72482e-11 7.76539e-11 0.003163 1 0 CORO6 84940 broad.mit.edu 37 17 27943746 27943746 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:27943746C>T ENST00000345068.5 - 8 1191 c.978G>A c.(976-978)ctG>ctA p.L326L RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Silent_p.L326L|CORO6_ENST00000445145.2_Silent_p.L326L|CORO6_ENST00000580212.1_Silent_p.L286L|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000388767.3_Silent_p.L326L|CORO6_ENST00000456796.3_Silent_p.L92L Q6QEF8 CORO6_HUMAN coronin 6 326 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 TGCTGACATCCAGTCCCCTTT 0.607000 16 82 0 0 0.003163 0 0 FAM27L 284123 broad.mit.edu 37 17 21825515 21825515 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:21825515G>A ENST00000426869.3 + 0 219 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) cgaaaccacaggcagagtccg 0.647000 12 50 0 0 0.001855 0 0 FANCB 2187 broad.mit.edu 37 X 14868791 14868791 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:14868791T>A ENST00000398334.1 - 7 1599 c.1332A>T c.(1330-1332)gaA>gaT p.E444D FANCB_ENST00000324138.3_Missense_Mutation_p.E444D NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 444 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) GAACAAGACATTCCTTCTAAA 0.308000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 4 3 0 0 0.000602 0 0 DNAH5 1767 broad.mit.edu 37 5 13920673 13920673 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13920673C>T ENST00000265104.4 - 6 818 c.714G>A c.(712-714)acG>acA p.T238T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 238 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCAAGTAGTCCGTAGGTTCCT 0.353000 Kartagener syndrome 25 67 0 0 0.003330 0 0 CPNE5 57699 broad.mit.edu 37 6 36714238 36714238 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:36714238A>G ENST00000244751.2 - 16 1759 c.1135T>C c.(1135-1137)Ttc>Ctc p.F379L CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.F87L NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 379 VWFA. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 AGGGCAGGGAACATCTTGTCA 0.627000 21 49 0 0 0.001882 0 0 SYNE2 23224 broad.mit.edu 37 14 64690033 64690033 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:64690033G>A ENST00000357395.3 + 113 20547 c.9403G>A c.(9403-9405)Gag>Aag p.E3135K SYNE2_ENST00000394768.2_Missense_Mutation_p.E3135K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6773K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3407K|SYNE2_ENST00000555022.1_Missense_Mutation_p.E628K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6666K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6750K|SYNE2_ENST00000441438.2_Missense_Mutation_p.E295K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E533K|SYNE2_ENST00000458046.2_Missense_Mutation_p.E421K Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6750 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GCATGTTATTGAGAAGAAACT 0.418000 11 29 0 0 0.001368 0 0 XYLB 9942 broad.mit.edu 37 3 38414185 38414185 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38414185C>T ENST00000207870.3 + 10 895 c.805C>T c.(805-807)Cct>Tct p.P269S XYLB_ENST00000542835.1_Missense_Mutation_p.P132S NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 269 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) CTACGGATTTCCTCCAGGATG 0.567000 24 42 0 0 0.005443 0 0 MMP27 64066 broad.mit.edu 37 11 102567566 102567566 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:102567566C>T ENST00000260229.4 - 5 711 c.619_splice c.e5-1 p.G207_splice NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 207 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CAAGTTGAATCCTTGATAATA 0.403000 11 14 0 0 0.000978 0 0 PTPN5 84867 broad.mit.edu 37 11 18751000 18751000 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:18751000C>T ENST00000396170.1 - 14 2772 c.1508_splice c.e14+1 p.R503_splice PTPN5_ENST00000358540.2_Splice_Site_p.R535_splice|PTPN5_ENST00000396171.4_Splice_Site_p.R535_splice|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_Splice_Site_p.R339_splice|PTPN5_ENST00000396167.2_Splice_Site_p.R503_splice|PTPN5_ENST00000396166.3_Splice_Site_p.R141_splice|PTPN5_ENST00000396168.1_Splice_Site_p.R511_splice NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 535 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 GTGGGCTGACCTGTCCTGACG 0.662000 10 16 0 0 0.000978 0 0 PLXNA2 5362 broad.mit.edu 37 1 208390556 208390556 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:208390556G>A ENST00000367033.3 - 2 1469 c.712C>T c.(712-714)Cac>Tac p.H238Y NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 238 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) ATGTCAAAGTGGGAGACCAGG 0.552000 41 182 0 0 0.008740 0 0 RSPO1 284654 broad.mit.edu 37 1 38082190 38082190 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:38082190G>A ENST00000356545.2 - 5 1039 c.252C>T c.(250-252)ttC>ttT p.F84F RSPO1_ENST00000401071.2_Silent_p.F84F|RSPO1_ENST00000401068.1_Silent_p.F84F|RSPO1_ENST00000401069.1_Silent_p.F84F|RSPO1_ENST00000401070.1_Silent_p.F84F|RSPO1_ENST00000373059.1_Silent_p.F57F NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 84 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding p.F84F(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGCGGGCGTCGAAGTATCCAG 0.617000 25 51 0 0 0.005443 0 0 ABCC9 10060 broad.mit.edu 37 12 22059214 22059214 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:22059214G>A ENST00000261200.4 - 10 1463 c.1464C>T c.(1462-1464)tcC>tcT p.S488S ABCC9_ENST00000261201.4_Silent_p.S488S|ABCC9_ENST00000345162.2_Silent_p.S488S NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 488 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GTCTCTCAGTGGAATAATCCT 0.373000 8 21 0 0 0.003080 0 0 HOMER1 9456 broad.mit.edu 37 5 78671949 78671949 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:78671949C>T ENST00000334082.6 - 9 2390 c.948G>A c.(946-948)caG>caA p.Q316Q HOMER1_ENST00000535690.1_Silent_p.Q142Q|HOMER1_ENST00000508576.1_3'UTR|HOMER1_ENST00000282260.6_Silent_p.Q186Q NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 316 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) CTTGTTCATTCTGACTTTTCT 0.383000 29 54 0 0 0.009535 0 0 RPRD2 23248 broad.mit.edu 37 1 150445502 150445502 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:150445502C>T ENST00000401000.4 + 10 4065 c.4000C>T c.(4000-4002)Cct>Tct p.P1334S RPRD2_ENST00000369068.4_Missense_Mutation_p.P1360S|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1360 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCTCAACGGCCCTGGCCTTAG 0.647000 20 22 0 0 0.002299 0 0 DIP2C 22982 broad.mit.edu 37 10 486818 486818 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:486818G>A ENST00000280886.6 - 4 474 c.387C>T c.(385-387)acC>acT p.T129T RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Silent_p.T22T NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 129 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TACCTGGAGGGGTGTAGGCGT 0.582000 18 41 0 0 0.008871 0 0 ADAM32 203102 broad.mit.edu 37 8 39112000 39112000 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:39112000C>T ENST00000379907.4 + 18 2097 c.1970C>T c.(1969-1971)tCc>tTc p.S657F ADAM32_ENST00000519315.1_Missense_Mutation_p.S551F|ADAM32_ENST00000437682.2_Missense_Mutation_p.S558F NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 657 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) CAAATACGTTCCAAAGGATTT 0.343000 7 7 0 0 0.001984 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460137 107460137 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:107460137C>T ENST00000409382.3 - 2 907 c.297G>A c.(295-297)tgG>tgA p.W99* ST6GAL2_ENST00000409087.3_Nonsense_Mutation_p.W99*|ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.W99* NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 99 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GGGACTGGGCCCATTTCTGCA 0.587000 24 50 0 0 0.003330 0 0 HIVEP1 3096 broad.mit.edu 37 6 12161804 12161804 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:12161804C>T ENST00000379388.2 + 8 6952 c.6620C>T c.(6619-6621)cCc>cTc p.P2207L HIVEP1_ENST00000541134.1_Missense_Mutation_p.P72L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2207 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCAGCCACACCCTCAGTCACA 0.507000 17 34 0 0 0.004990 0 0 HEATR6 63897 broad.mit.edu 37 17 58134512 58134512 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:58134512G>A ENST00000184956.6 - 12 1992 c.1976C>T c.(1975-1977)tCc>tTc p.S659F HEATR6_ENST00000585976.1_Missense_Mutation_p.S659F NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 659 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TACGACAATGGAAATGCAGAG 0.557000 15 87 0 0 0.002450 0 0 LPIN1 23175 broad.mit.edu 37 2 11964794 11964794 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:11964794C>T ENST00000256720.2 + 20 2643 c.2550C>T c.(2548-2550)ttC>ttT p.F850F LPIN1_ENST00000449576.2_Silent_p.F935F|LPIN1_ENST00000396097.1_Silent_p.F580F|LPIN1_ENST00000404113.2_Silent_p.F351F|LPIN1_ENST00000425416.2_Silent_p.F856F|LPIN1_ENST00000396099.1_Silent_p.F892F NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 850 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) ACCACGTTTTCCCGTTGCTGA 0.502000 38 39 0 0 0.006230 0 0 UHRF2 115426 broad.mit.edu 37 9 6460786 6460786 + Silent SNP C C T rs142780701 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:6460786C>T ENST00000276893.5 + 4 1026 c.858C>T c.(856-858)ttC>ttT p.F286F NM_152896.2 NP_690856.1 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase 286 Interaction with PCNP. cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1) 17 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) TGAAAATTTTCCTGGGGTAAG 0.353000 13 20 0 0 0.001368 0 0 C17orf47 284083 broad.mit.edu 37 17 56620146 56620146 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:56620146G>A ENST00000321691.3 - 1 1583 c.1402C>T c.(1402-1404)Cct>Tct p.P468S RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 468 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCACAGAAAGGGCTAGAGTCT 0.478000 41 181 0 0 0.006230 0 0 COL4A4 1286 broad.mit.edu 37 2 227915857 227915857 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:227915857C>T ENST00000396625.3 - 33 3193 c.2986G>A c.(2986-2988)Ggg>Agg p.G996R COL4A4_ENST00000329662.7_Missense_Mutation_p.G996R NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 996 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTTGCATCCCGGGAGTTCCT 0.522000 40 65 0 0 0.003214 0 0 TPTE 7179 broad.mit.edu 37 21 10969106 10969106 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:10969106C>T ENST00000361285.4 - 7 471 c.142G>A c.(142-144)Gga>Aga p.G48R TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron NM_199261.2 NP_954870.2 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 48 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CGGGCTGCTCCTTTAAATTCA 0.468000 22 115 0 0 0.002780 0 0 SCN11A 11280 broad.mit.edu 37 3 38888526 38888526 + Missense_Mutation SNP G G A rs143537709 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38888526G>A ENST00000302328.3 - 26 5233 c.5035C>T c.(5035-5037)Cgc>Tgc p.R1679C SCN11A_ENST00000456224.3_Missense_Mutation_p.R1641C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1679C NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1679 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1679C(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAGTGGAGGCGATCTTCACTC 0.463000 23 57 0 0 0.001882 0 0 APOB 338 broad.mit.edu 37 2 21225258 21225258 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:21225258T>C ENST00000233242.1 - 29 13163 c.13036A>G c.(13036-13038)Aaa>Gaa p.K4346E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4346 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCAACAATTTAAAAACATAT 0.299000 168 350 0 0 0.003610 0 0 CYP4F2 8529 broad.mit.edu 37 19 15989715 15989715 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:15989715C>T ENST00000221700.5 - 13 1524 c.1429G>A c.(1429-1431)Gag>Aag p.E477K CYP4F2_ENST00000592328.1_Missense_Mutation_p.E477K NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 477 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ACCTTCATCTCCGCCATCGCG 0.677000 5 43 0 0 0.000602 0 0 MAP3K7 6885 broad.mit.edu 37 6 91257074 91257074 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:91257074G>A ENST00000369329.3 - 11 1274 c.1113C>T c.(1111-1113)tcC>tcT p.S371S MAP3K7_ENST00000369332.3_Silent_p.S371S|MAP3K7_ENST00000369325.3_Silent_p.S371S|MAP3K7_ENST00000369320.1_Silent_p.S52S|MAP3K7_ENST00000369327.3_Silent_p.S371S NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 371 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TGCTCCCACGGGAGGCTCCCA 0.468000 53 144 0 0 0.003610 0 0 ATR 545 broad.mit.edu 37 3 142272230 142272230 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:142272230C>T ENST00000350721.4 - 13 2765 c.2644G>A c.(2644-2646)Gga>Aga p.G882R ATR_ENST00000383101.3_Missense_Mutation_p.G818R NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 882 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ACCAAATCTCCTTTTGCGGCC 0.388000 Other conserved DNA damage response genes 13 28 0 0 0.003163 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73078666 73078666 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:73078666C>T ENST00000263674.3 + 21 6383 c.6033C>T c.(6031-6033)tcC>tcT p.S2011S NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 2011 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 ACCGGGACTCCCCTTGGCACC 0.647000 22 38 0 0 0.003330 0 0 COL21A1 81578 broad.mit.edu 37 6 56035891 56035891 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:56035891G>A ENST00000244728.5 - 4 1073 c.676C>T c.(676-678)Cgt>Tgt p.R226C COL21A1_ENST00000370819.1_Missense_Mutation_p.R226C|COL21A1_ENST00000535941.1_Missense_Mutation_p.R226C NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 226 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CTTTCATCACGAGCTGCCACT 0.308000 21 55 0 0 0.006320 0 0 PLCH1 23007 broad.mit.edu 37 3 155199880 155199880 + Missense_Mutation SNP G G A rs143608009 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:155199880G>A ENST00000460012.1 - 23 4202 c.3845C>T c.(3844-3846)aCc>aTc p.T1282I PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1282I|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1282I|PLCH1_ENST00000340059.7_Missense_Mutation_p.T1320I Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1320 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTCTCCCTTGGTAGGACTTTT 0.502000 38 96 0 0 0.005524 0 0 NEBL 10529 broad.mit.edu 37 10 21120197 21120197 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:21120197C>T ENST00000377122.4 - 16 1995 c.1599G>A c.(1597-1599)ggG>ggA p.G533G NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 533 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCATTCCTTTCCCTTTAATTT 0.353000 21 50 0 0 0.001882 0 0 WNK4 65266 broad.mit.edu 37 17 40936049 40936049 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:40936049C>T ENST00000246914.5 + 3 907 c.886C>T c.(886-888)Cct>Tct p.P296S NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 296 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CTCCCGGGTTCCTCCCATCCT 0.617000 25 48 0 0 0.002780 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887877 30887877 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:30887877G>A ENST00000392772.2 - 10 970 c.693C>T c.(691-693)ggC>ggT p.G231G RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000255858.7_Silent_p.G285G|SEC14L4_ENST00000540456.1_Silent_p.G270G|SEC14L4_ENST00000381982.3_Silent_p.G285G Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 285 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) AGGAGCCGCGGCCCACGGACC 0.627000 11 20 0 0 0.000978 0 0 OBSCN 84033 broad.mit.edu 37 1 228487670 228487670 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:228487670C>T ENST00000570156.2 + 51 13636 c.13562C>T c.(13561-13563)gCg>gTg p.A4521V OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1211V|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3564 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGAGAAAGGCGGCCCCCGTG 0.557000 25 38 0 0 0.004656 0 0 FLCN 201163 broad.mit.edu 37 17 17124710 17124710 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:17124710G>A ENST00000389169.5 - 8 1466 c.1012C>T c.(1012-1014)Cct>Tct p.P338S RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000285071.4_Intron NM_144606.5 NP_653207.1 Q8NFG4 FLCN_HUMAN folliculin 0 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GAGATCGGAGGGTGAGCTTCC 0.562000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 5 10 0 0 0.000602 0 0 LHCGR 3973 broad.mit.edu 37 2 48925938 48925938 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:48925938C>T ENST00000294954.7 - 9 703 c.680_splice c.e9-1 p.D228_splice LHCGR_ENST00000405626.1_Splice_Site_p.D228_splice|LHCGR_ENST00000401907.1_Splice_Site_p.D228_splice|LHCGR_ENST00000344775.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Splice_Site_p.D228_splice NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 228 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GAAGAAATATCCCTGAACAAT 0.418000 17 26 0 0 0.006122 0 0 SNCA 6622 broad.mit.edu 37 4 90650377 90650377 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:90650377G>A ENST00000394989.2 - 4 578 c.316C>T c.(316-318)Cct>Tct p.P106S SNCA_ENST00000508895.1_Missense_Mutation_p.P120S|SNCA_ENST00000345009.4_Intron|SNCA_ENST00000394986.1_Missense_Mutation_p.P120S|SNCA_ENST00000505199.1_Missense_Mutation_p.P106S|SNCA_ENST00000506244.1_Missense_Mutation_p.P120S|SNCA_ENST00000394991.3_Missense_Mutation_p.P120S|SNCA_ENST00000420646.2_Intron|SNCA_ENST00000336904.3_Missense_Mutation_p.P120S P37840 SYUA_HUMAN synuclein, alpha (non A4 component of amyloid precursor) 120 activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) TCATTGTCAGGATCCACAGGC 0.388000 29 52 0 0 0.002096 0 0 DPP10 57628 broad.mit.edu 37 2 116447276 116447276 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:116447276C>T ENST00000410059.1 + 6 935 c.455C>T c.(454-456)tCg>tTg p.S152L DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.S102L|DPP10_ENST00000393147.2_Missense_Mutation_p.S156L|DPP10_ENST00000310323.8_Missense_Mutation_p.S145L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 152 proteolysis integral to membrane|membrane fraction serine-type peptidase activity p.S145L(2)|p.S152L(2) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TTTCATTATTCGTATACTGCT 0.264000 6 11 0 0 0.001168 0 0 XKR3 150165 broad.mit.edu 37 22 17265203 17265203 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:17265203T>C ENST00000331428.5 - 4 788 c.686A>G c.(685-687)aAg>aGg p.K229R NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 229 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CGGCGGTAGCTTAATGGTAGT 0.428000 8 27 0 0 0.004482 0 0 UNC45B 146862 broad.mit.edu 37 17 33496856 33496856 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:33496856G>A ENST00000268876.5 + 11 1550 c.1452_splice c.e11-1 p.G485_splice UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000433649.1_Splice_Site_p.G485_splice|UNC45B_ENST00000394570.2_Splice_Site_p.G485_splice|UNC45B_ENST00000378449.1_Intron NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 485 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TCCTCCTCAGGGACTCTGTAA 0.542000 17 32 0 0 0.004990 0 0 PDZD2 23037 broad.mit.edu 37 5 31983420 31983420 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:31983420G>A ENST00000438447.1 + 3 1024 c.636G>A c.(634-636)aaG>aaA p.K212K PDZD2_ENST00000282493.3_Silent_p.K212K O15018 PDZD2_HUMAN PDZ domain containing 2 212 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTGCGAAAAAGGGGAAACGAA 0.537000 35 81 0 0 0.004289 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100821477 100821477 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:100821477C>T ENST00000268070.4 - 4 851 c.746G>A c.(745-747)gGg>gAg p.G249E NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 249 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GGCCTCGGCCCCGTGGTACTG 0.652000 26 93 0 0 0.005443 0 0 ART5 116969 broad.mit.edu 37 11 3660014 3660014 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:3660014C>T ENST00000397068.3 - 4 1222 c.830G>A c.(829-831)gGa>gAa p.G277E ART5_ENST00000397067.3_3'UTR|ART5_ENST00000359918.4_Missense_Mutation_p.G277E NM_053017.3 NP_443750.2 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 277 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCACCCGTTCCCAGGGCTCC 0.592000 36 57 0 0 0.007835 0 0 ZNF99 7652 broad.mit.edu 37 19 22939518 22939518 + Missense_Mutation SNP C C T rs74170737 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:22939518C>T ENST00000397104.3 - 7 2652 c.2653G>A c.(2653-2655)Gag>Aag p.E885K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TACGGTTTCTCCCCAGTATGA 0.348000 16 41 0 0 0.003163 0 0 ZNF530 348327 broad.mit.edu 37 19 58118507 58118507 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:58118507G>A ENST00000332854.6 + 3 1834 c.1614G>A c.(1612-1614)agG>agA p.R538R ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 538 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTCAGCATAGGAGAGTTCACA 0.458000 13 32 0 0 0.001855 0 0 UGT2B10 7365 broad.mit.edu 37 4 69682275 69682275 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:69682275G>A ENST00000265403.7 + 1 565 c.538G>A c.(538-540)Gaa>Aaa p.E180K UGT2B10_ENST00000458688.2_Intron NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 180 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 CTACTCATTTGAAAGGCACAG 0.408000 33 62 0 0 0.003755 0 0 NPR1 4881 broad.mit.edu 37 1 153660603 153660603 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:153660603G>A ENST00000368680.3 + 15 2795 c.2323G>A c.(2323-2325)Gag>Aag p.E775K NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 775 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TCACCTGGAGGAGTTGGGGCT 0.632000 18 39 0 0 0.004990 0 0 FRG1B 284802 broad.mit.edu 37 20 29632695 29632695 + Silent SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:29632695A>C ENST00000278882.3 + 8 890 c.510A>C c.(508-510)ggA>ggC p.G170G FRG1B_ENST00000358464.4_Silent_p.G170G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAAGATGGATTTTTGCATG 0.318000 21 677 0 0 0.007291 0 0 USP17L2 377630 broad.mit.edu 37 8 11996035 11996035 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:11996035C>T ENST00000333796.3 - 1 551 c.235G>A c.(235-237)Ggg>Agg p.G79R FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 79 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 AGCCCAGCCCCCACCGCAGCA 0.582000 19 110 0 0 0.002780 0 0 TMEM100 55273 broad.mit.edu 37 17 53798111 53798111 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:53798111C>T ENST00000575734.1 - 4 1129 c.321G>A c.(319-321)tgG>tgA p.W107* TMEM100_ENST00000424486.2_Nonsense_Mutation_p.W107* NM_001099640.1 NP_001093110.1 Q9NV29 TM100_HUMAN transmembrane protein 100 107 integral to membrane cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 11 GTCTCACTTTCCAGCACAAGG 0.463000 18 75 0 0 0.007413 0 0 AADACL4 343066 broad.mit.edu 37 1 12704613 12704613 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:12704613C>T ENST00000376221.1 + 1 48 c.48C>T c.(46-48)ttC>ttT p.F16F NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 16 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CCATCTTTTTCCTGGGGGTCT 0.532000 47 110 0 0 0.003610 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810191 106810191 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:106810191C>T ENST00000526355.1 - 4 1669 c.1201G>A c.(1201-1203)Gac>Aac p.D401N GUCY1A2_ENST00000347596.2_Missense_Mutation_p.D401N|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.D401N NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 401 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CTTACCTTGTCTTTATTTTCA 0.423000 24 97 0 0 0.005443 0 0 TSPY2 64591 broad.mit.edu 37 Y 6115650 6115650 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrY:6115650C>T ENST00000320701.4 + 3 658 c.612C>T c.(610-612)ttC>ttT p.F204F TSPY2_ENST00000383042.1_Silent_p.F204F NM_022573.2 NP_072095.2 A6NKD2 TSPY2_HUMAN testis specific protein, Y-linked 2 204 cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus liver(1)|lung(4)|prostate(1)|skin(1) 7 TCATGTTGTTCTTTCGGAGTA 0.473000 27 73 0 0 0.002836 0 0 CD1C 911 broad.mit.edu 37 1 158262655 158262655 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:158262655C>T ENST00000368170.3 + 4 1159 c.880C>T c.(880-882)Ctc>Ttc p.L294F NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 294 Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GGACATCATCCTCTACTGGGG 0.532000 6 26 0 0 0.001984 0 0 PLVAP 83483 broad.mit.edu 37 19 17476392 17476392 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:17476392G>A ENST00000252590.4 - 3 943 c.882C>T c.(880-882)atC>atT p.I294I NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 294 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 CCACGCGTTCGATATCCGCCC 0.657000 10 27 0 0 0.000978 0 0 SPTA1 6708 broad.mit.edu 37 1 158582658 158582658 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:158582658G>A ENST00000368148.3 - 51 7263 c.7083C>T c.(7081-7083)ttC>ttT p.F2361F SPTA1_ENST00000368147.3_Silent_p.F2358F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2361 EF-hand 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCAGGGCTTGGAAGGCATTCT 0.453000 10 40 0 0 0.006214 0 0 DYSF 8291 broad.mit.edu 37 2 71781022 71781022 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:71781022C>T ENST00000258104.3 + 21 2293 c.2016C>T c.(2014-2016)atC>atT p.I672I DYSF_ENST00000410020.3_Silent_p.I690I|DYSF_ENST00000409762.1_Silent_p.I689I|DYSF_ENST00000429174.2_Silent_p.I672I|DYSF_ENST00000413539.2_Silent_p.I703I|DYSF_ENST00000410041.1_Silent_p.I690I|DYSF_ENST00000409744.1_Silent_p.I659I|DYSF_ENST00000394120.2_Silent_p.I673I|DYSF_ENST00000409651.1_Silent_p.I704I|DYSF_ENST00000409582.3_Silent_p.I689I|DYSF_ENST00000409366.1_Silent_p.I673I NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 672 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GCCATAGAATCGAGACTCAGA 0.552000 14 33 0 0 0.004990 0 0 PDZD2 23037 broad.mit.edu 37 5 32088468 32088468 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:32088468G>A ENST00000438447.1 + 20 5302 c.4914G>A c.(4912-4914)ccG>ccA p.P1638P PDZD2_ENST00000282493.3_Silent_p.P1638P O15018 PDZD2_HUMAN PDZ domain containing 2 1638 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACAGCACTCCGAGAGAGTCGG 0.577000 44 92 0 0 0.009718 0 0 SUN2 25777 broad.mit.edu 37 22 39138308 39138308 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:39138308G>A ENST00000405510.1 - 10 1424 c.1066C>T c.(1066-1068)Cag>Tag p.Q356* SUN2_ENST00000405018.1_Nonsense_Mutation_p.Q377*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.Q356*|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.Q356*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.Q345* NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 356 centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 CCTCCTACCTGGATGCGAGCA 0.602000 14 37 0 0 0.003163 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801846 185801846 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:185801846G>A ENST00000302277.6 + 4 2317 c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 575 intracellular zinc ion binding p.E575K(1) 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 CACTCTAGATGAAAAATACAA 0.299000 24 63 0 0 0.006320 0 0 SLC24A3 57419 broad.mit.edu 37 20 19566145 19566145 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:19566145A>G ENST00000328041.6 + 6 766 c.569A>G c.(568-570)aAc>aGc p.N190S NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 190 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GCGGTATTCAACATCCTGTGC 0.547000 78 138 0 0 0.003610 0 0 RNF123 63891 broad.mit.edu 37 3 49753392 49753392 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:49753392C>T ENST00000327697.6 + 33 3432 c.3288C>T c.(3286-3288)ttC>ttT p.F1096F RNF123_ENST00000433785.1_Silent_p.F208F NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1096 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CTGAGATATTCCTTGACTGGA 0.592000 30 58 0 0 0.002445 0 0 LTBP4 8425 broad.mit.edu 37 19 41129586 41129586 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:41129586T>C ENST00000308370.7 + 29 3832 c.3832T>C c.(3832-3834)Tgc>Cgc p.C1278R LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.C1241R|LTBP4_ENST00000396819.3_Missense_Mutation_p.C1211R|LTBP4_ENST00000545697.1_Missense_Mutation_p.C646R NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1279 EGF-like 13; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGGCTACTCATGCTATTGCAG 0.592000 17 29 0 0 0.006122 0 0 C1orf87 127795 broad.mit.edu 37 1 60466802 60466802 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:60466802G>A ENST00000371201.3 - 10 1326 c.1219C>T c.(1219-1221)Cct>Tct p.P407S C1orf87_ENST00000450089.2_Missense_Mutation_p.P178S|C1orf87_ENST00000395552.1_Missense_Mutation_p.P41S|C1orf87_ENST00000486478.1_5'UTR NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 407 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TCCATTGGAGGGGCAGGGGCT 0.418000 10 31 0 0 0.008291 0 0 CUX1 1523 broad.mit.edu 37 7 101845438 101845438 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:101845438A>G ENST00000360264.3 + 18 2914 c.2894A>G c.(2893-2895)gAa>gGa p.E965G CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.E932G|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.E852G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.E796G|CUX1_ENST00000292535.7_Missense_Mutation_p.E954G|CUX1_ENST00000550008.2_Missense_Mutation_p.E898G NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 954 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CAGGTTAAGGAAAAGCTGGCC 0.592000 74 37 0 0 0.003610 0 0 TOM1L2 146691 broad.mit.edu 37 17 17751084 17751084 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:17751084G>A ENST00000581396.1 - 14 1335 c.1239C>T c.(1237-1239)ttC>ttT p.F413F TOM1L2_ENST00000540946.1_Silent_p.F345F|TOM1L2_ENST00000478943.1_Silent_p.F196F|TOM1L2_ENST00000379504.3_Silent_p.F463F|TOM1L2_ENST00000318094.10_Silent_p.F418F|TOM1L2_ENST00000535933.1_Silent_p.F439F|TOM1L2_ENST00000395739.4_Silent_p.F418F|TOM1L2_ENST00000542206.1_Silent_p.F344F NM_001033551.2 NP_001028723.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 463 intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) TTTCTTCAAGGAATTTATCAA 0.582000 35 45 0 0 0.006999 0 0 DENND1C 79958 broad.mit.edu 37 19 6475321 6475321 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:6475321G>A ENST00000381480.2 - 14 1129 c.1017C>T c.(1015-1017)ctC>ctT p.L339L DENND1C_ENST00000543576.1_Silent_p.L295L NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 339 dDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 ACCCCCCGAAGAGCAGGGCCT 0.652000 8 17 0 0 0.003080 0 0 DNAH5 1767 broad.mit.edu 37 5 13811790 13811790 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13811790C>T ENST00000265104.4 - 44 7477 c.7373G>A c.(7372-7374)aGc>aAc p.S2458N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2458 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CATGTTAATGCTCTGTGTGAT 0.443000 Kartagener syndrome 26 40 0 0 0.009535 0 0 HHLA2 11148 broad.mit.edu 37 3 108076803 108076803 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:108076803G>A ENST00000357759.5 + 6 1212 c.798G>A c.(796-798)ggG>ggA p.G266G HHLA2_ENST00000467761.1_Silent_p.G266G|HHLA2_ENST00000489514.2_Silent_p.G266G|HHLA2_ENST00000467562.1_Silent_p.G202G|HHLA2_ENST00000491820.1_Silent_p.G266G NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 266 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TGAAAAGTGGGACTTTCTCTG 0.383000 58 106 0 0 0.003610 0 0 PCDH15 65217 broad.mit.edu 37 10 55912930 55912930 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:55912930C>T ENST00000373965.2 - 15 2129 c.1735G>A c.(1735-1737)Gaa>Aaa p.E579K PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E572K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E572K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E572K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E572K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E572K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E572K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E579K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E550K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E183K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E550K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E572K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E535K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E577K NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 572 Cadherin 5. 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) ACTATCATTTCCACCCCTGGA 0.478000 HNSCC(58;0.16) 24 35 0 0 0.003330 0 0 GFM2 84340 broad.mit.edu 37 5 74046476 74046476 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:74046476G>A ENST00000296805.3 - 7 904 c.447C>T c.(445-447)acC>acT p.T149T GFM2_ENST00000345239.2_Silent_p.T149T|GFM2_ENST00000509430.1_Silent_p.T149T|GFM2_ENST00000427854.2_Silent_p.T149T NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 149 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) CAACCTCCAAGGTAAAGTCCA 0.423000 25 47 0 0 0.008361 0 0 SLC17A8 246213 broad.mit.edu 37 12 100774643 100774643 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:100774643C>T ENST00000323346.5 + 2 579 c.266C>T c.(265-267)tCc>tTc p.S89F SLC17A8_ENST00000392989.3_Missense_Mutation_p.S89F NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 89 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TTCTGCATTTCCTTTGGGATC 0.517000 61 60 0 0 0.003610 0 0 CCBE1 147372 broad.mit.edu 37 18 57103257 57103257 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:57103257G>A ENST00000439986.4 - 11 1141 c.1104C>T c.(1102-1104)ttC>ttT p.F368F CCBE1_ENST00000398179.2_Silent_p.F97F NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 368 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) GAGGTAAAGGGAACTCCTCTG 0.532000 46 83 0 0 0.009718 0 0 BAI3 577 broad.mit.edu 37 6 70064192 70064192 + Missense_Mutation SNP C C T rs142863825 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:70064192C>T ENST00000370598.1 + 27 4348 c.3527C>T c.(3526-3528)tCg>tTg p.S1176L BAI3_ENST00000546190.1_Missense_Mutation_p.S140L|BAI3_ENST00000238918.8_Missense_Mutation_p.S382L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1176 Poly-Ser. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TCTTCGAGTTCGTTTCCTAAT 0.393000 32 82 0 0 0.004289 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724061 7724061 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:7724061C>T ENST00000303635.7 + 9 1661 c.1454C>T c.(1453-1455)cCc>cTc p.P485L CAMTA1_ENST00000439411.2_Missense_Mutation_p.P485L NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AACTTTGACCCCGACTGTTTC 0.602000 T WWTR1 epitheliod hemangioendothelioma 34 63 0 0 0.004289 0 0 KRTAP5-6 440023 broad.mit.edu 37 11 1718666 1718666 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:1718666G>A ENST00000382160.1 + 1 242 c.191G>A c.(190-192)gGg>gAg p.G64E NM_001012416.1 NP_001012416.1 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 64 6 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCTCTTGTGGGGGCTCCAAA 0.642000 56 105 0 0 0.003610 0 0 CCDC87 55231 broad.mit.edu 37 11 66359372 66359372 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:66359372G>A ENST00000333861.3 - 1 1182 c.1115C>T c.(1114-1116)cCa>cTa p.P372L NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 372 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GTCCAGTGGTGGGTAGCGAGT 0.577000 13 59 0 0 0.004007 0 0 DLGAP1 9229 broad.mit.edu 37 18 3742415 3742415 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:3742415C>T ENST00000315677.3 - 6 1865 c.1270G>A c.(1270-1272)Gac>Aac p.D424N DLGAP1_ENST00000539435.1_Missense_Mutation_p.D122N|DLGAP1_ENST00000400145.2_Missense_Mutation_p.D122N|DLGAP1_ENST00000400155.1_Missense_Mutation_p.D130N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D424N|DLGAP1_ENST00000400147.2_Missense_Mutation_p.D122N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D424N|DLGAP1_ENST00000581699.1_Missense_Mutation_p.D130N|DLGAP1_ENST00000400149.3_Missense_Mutation_p.D132N|DLGAP1_ENST00000400150.3_Missense_Mutation_p.D130N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D424N|DLGAP1_ENST00000534970.1_Missense_Mutation_p.D136N|DLGAP1_ENST00000478161.1_5'UTR NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 424 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CCTGCAGGGTCCAGGCTGTCC 0.567000 6 25 0 0 0.001168 0 0 ITLN1 55600 broad.mit.edu 37 1 160853271 160853271 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:160853271G>A ENST00000326245.3 - 3 219 c.104C>T c.(103-105)cCa>cTa p.P35L NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 35 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GGGCAGAGATGGAGACGAAGA 0.443000 19 41 0 0 0.001882 0 0 PIK3R2 5296 broad.mit.edu 37 19 18274135 18274135 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:18274135G>T ENST00000593731.1 + 11 1913 c.1353G>T c.(1351-1353)caG>caT p.Q451H PIK3R2_ENST00000222254.7_Missense_Mutation_p.Q451H O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 451 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 TCTATCACCAGCAGTACCAGG 0.567000 18 37 1.02788e-11 1.18782e-11 0.004990 1 0 CNTN4 152330 broad.mit.edu 37 3 2928802 2928802 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:2928802A>G ENST00000397461.1 + 9 1218 c.834A>G c.(832-834)ggA>ggG p.G278G CNTN4_ENST00000358480.3_Silent_p.G59G|CNTN4_ENST00000427331.1_Silent_p.G278G|CNTN4_ENST00000418658.1_Silent_p.G278G NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 278 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AGTCAAATGGAATTCTTGAGA 0.408000 16 25 0 0 0.004990 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307587 39307587 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:39307587C>T ENST00000541347.1 - 2 653 c.414G>A c.(412-414)atG>atA p.M138I CX3CR1_ENST00000358309.3_Missense_Mutation_p.M170I|CX3CR1_ENST00000542107.1_Missense_Mutation_p.M138I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.M138I NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 138 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TCCGGTTGTTCATGGAGTTGG 0.537000 29 67 0 0 0.002445 0 0 MYH2 4620 broad.mit.edu 37 17 10443353 10443353 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:10443353C>T ENST00000245503.5 - 12 1423 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K MYH2_ENST00000397183.2_Missense_Mutation_p.E347K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.E347K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 347 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E347K(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACCTTTTCTTCATTAGTAAAG 0.423000 16 71 0 0 0.004990 0 0 NEB 4703 broad.mit.edu 37 2 152420119 152420119 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:152420119C>T ENST00000427231.2 - 119 18896 c.e119+1 NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000409198.1_Splice_Site NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CATTTACTTACCGCACTCCTC 0.468000 12 231 0 0 0.001855 0 0 FLNA 2316 broad.mit.edu 37 X 153577876 153577876 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:153577876G>A ENST00000422373.1 - 46 7834 c.7586C>T c.(7585-7587)tCt>tTt p.S2529F FLNA_ENST00000369856.3_Missense_Mutation_p.S670F|FLNA_ENST00000360319.4_Missense_Mutation_p.S2529F|FLNA_ENST00000344736.4_Missense_Mutation_p.S2497F|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369850.3_Missense_Mutation_p.S2537F NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2537 Hinge 2.|Self-association site, tail. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTTGGTCAGAGAGTCTACAAA 0.662000 27 29 0 0 0.007291 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28555609 28555609 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:28555609A>G ENST00000383768.2 + 7 900 c.712A>G c.(712-714)Aaa>Gaa p.K238E ZCWPW2_ENST00000421010.1_Missense_Mutation_p.K238E Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 238 zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 TAGAAAAAGGAAAAGGTATGC 0.259000 5 7 0 0 0.000602 0 0 ADGRE4P 326342 broad.mit.edu 37 19 6974614 6974614 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:6974614C>T ENST00000600751.1 - 0 768 NR_024075.1 CATCCCTTTTCGTTTACTAAA 0.403000 11 23 0 0 0.001368 0 0 ALMS1 7840 broad.mit.edu 37 2 73679862 73679862 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:73679862G>A ENST00000264448.6 + 8 6316 c.6205G>A c.(6205-6207)Ggt>Agt p.G2069S ALMS1_ENST00000409009.1_Missense_Mutation_p.G2027S|ALMS1_ENST00000377715.1_Missense_Mutation_p.G2069S NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2069 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TCAAAGTAAAGGTATTCTAAA 0.363000 11 40 0 0 0.000978 0 0 PXDNL 137902 broad.mit.edu 37 8 52321489 52321489 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:52321489C>T ENST00000356297.4 - 17 2795 c.2695G>A c.(2695-2697)Gtt>Att p.V899I PXDNL_ENST00000543296.1_Missense_Mutation_p.V899I NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 899 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTCCCGTAAACGTTGGAGCCA 0.622000 17 50 0 0 0.008871 0 0 MRPL1 65008 broad.mit.edu 37 4 78804427 78804427 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:78804427G>A ENST00000315567.8 + 3 504 c.175G>A c.(175-177)Gaa>Aaa p.E59K MRPL1_ENST00000506674.1_3'UTR NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 59 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 AGGTGCTAAAGAAAAAACACC 0.279000 6 7 0 0 0.001168 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073507 74073507 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:74073507G>A ENST00000370367.3 + 3 631 c.578G>A c.(577-579)cGa>cAa p.R193Q NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member GGGACCCAGCGATCCCCCGAA 0.642000 19 34 0 0 0.008871 0 0 MUC3A 4584 broad.mit.edu 37 7 100551597 100551597 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:100551597C>T ENST00000319509.7 + 1 348 c.348C>T c.(346-348)atC>atT p.I116I mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACACCCCAATCAGTTCCTTTA 0.502000 20 399 0 0 0.003610 0 0 SCN10A 6336 broad.mit.edu 37 3 38835385 38835385 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38835385C>T ENST00000449082.2 - 1 116 c.117G>A c.(115-117)gaG>gaA p.E39E NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 39 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) CCCTATGCTTCTCTCTGGCTT 0.532000 37 88 0 0 0.004878 0 0 IGFBP1 3484 broad.mit.edu 37 7 45930193 45930193 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:45930193G>A ENST00000275525.3 + 2 692 c.396G>A c.(394-396)gaG>gaA p.E132E IGFBP1_ENST00000457280.1_Silent_p.E132E|IGFBP1_ENST00000468955.1_Silent_p.E132E NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 132 extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 TAACTGAGGAGGAGCTCCTGG 0.537000 OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 57 0 0 0.004878 0 0 COL4A4 1286 broad.mit.edu 37 2 227915856 227915856 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:227915856C>T ENST00000396625.3 - 33 3194 c.2987G>A c.(2986-2988)gGg>gAg p.G996E COL4A4_ENST00000329662.7_Missense_Mutation_p.G996E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 996 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCCTTGCATCCCGGGAGTTCC 0.522000 39 62 0 0 0.002852 0 0 FAT2 2196 broad.mit.edu 37 5 150930330 150930330 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:150930330G>A ENST00000261800.5 - 7 4411 c.4399C>T c.(4399-4401)Ctc>Ttc p.L1467F NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1467 Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTCGCAGGAGCTCTACCCCT 0.532000 8 31 0 0 0.004482 0 0 CBFA2T3 863 broad.mit.edu 37 16 88947895 88947895 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:88947895G>A ENST00000268679.4 - 9 1602 c.1206C>T c.(1204-1206)ctC>ctT p.L402L RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.L364L|CBFA2T3_ENST00000360302.2_Silent_p.L316L|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000448839.1_Silent_p.L326L|CBFA2T3_ENST00000327483.5_Silent_p.L316L NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 402 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) TGCAGTTCAGGAGCTGGGGGC 0.701000 T RUNX1 AML 12 10 0 0 0.001855 0 0 SCN10A 6336 broad.mit.edu 37 3 38770144 38770144 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:38770144G>A ENST00000449082.2 - 15 2528 c.2529C>T c.(2527-2529)ttC>ttT p.F843F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 843 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) AGAGGATACGGAAGACAATGA 0.502000 10 35 0 0 0.008291 0 0 DPY19L3 147991 broad.mit.edu 37 19 32927424 32927424 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:32927424T>G ENST00000342179.5 + 5 616 c.401T>G c.(400-402)aTt>aGt p.I134S DPY19L3_ENST00000392250.2_Missense_Mutation_p.I134S|DPY19L3_ENST00000586987.1_Missense_Mutation_p.I134S NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 134 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) CGAATGAATATTTACCAAGAG 0.303000 39 79 0 0 0.006230 0 0 ASXL3 80816 broad.mit.edu 37 18 31325250 31325250 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:31325250G>A ENST00000269197.5 + 12 5438 c.5438G>A c.(5437-5439)gGg>gAg p.G1813E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1813 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TACTTGGCAGGGACTCTGGCA 0.478000 23 113 0 0 0.003330 0 0 RYR1 6261 broad.mit.edu 37 19 39034477 39034477 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:39034477C>T ENST00000355481.4 + 86 12090 c.11959C>T c.(11959-11961)Ctg>Ttg p.L3987L RYR1_ENST00000360985.3_Silent_p.L3987L|RYR1_ENST00000359596.3_Silent_p.L3992L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3992 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 p.L3992M(1) 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) GGTGGGATTCCTGCACGTGTT 0.642000 9 20 0 0 0.008291 0 0 NUP205 23165 broad.mit.edu 37 7 135289098 135289098 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:135289098C>T ENST00000285968.6 + 19 2739 c.2713C>T c.(2713-2715)Cat>Tat p.H905Y NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 905 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 ATACCTATATCATGGCAATAC 0.338000 31 20 0 0 0.009535 0 0 TRIM2 23321 broad.mit.edu 37 4 154191564 154191564 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:154191564A>G ENST00000338700.5 + 2 173 c.108A>G c.(106-108)ccA>ccG p.P36P TRIM2_ENST00000437508.2_Silent_p.P9P|TRIM2_ENST00000494872.1_3'UTR NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 9 cytoplasm zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) CCAACATCCCAAGTCCTGTGG 0.522000 26 59 0 0 0.003330 0 0 RP1L1 94137 broad.mit.edu 37 8 10465331 10465331 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:10465331C>T ENST00000382483.3 - 4 6500 c.6277G>A c.(6277-6279)Gag>Aag p.E2093K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2093 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGCTGGGCCTCCCCTTCTGCC 0.627000 54 126 0 0 0.003610 0 0 FAM217A 222826 broad.mit.edu 37 6 4069555 4069555 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:4069555A>C ENST00000274673.3 - 7 1305 c.902T>G c.(901-903)aTt>aGt p.I301S FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 301 CTCTTTTTGAATAGTCATATG 0.418000 23 53 0 0 0.003330 0 0 CLEC18B 497190 broad.mit.edu 37 16 74443494 74443494 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:74443494C>T ENST00000339953.5 - 12 1405 c.1284G>A c.(1282-1284)tgG>tgA p.W428* NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 428 C-type lectin. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCTGGTCGTTCCAGTTGAAGG 0.597000 12 57 0 0 0.008871 0 0 HSPA6 3310 broad.mit.edu 37 1 161496303 161496303 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:161496303C>T ENST00000309758.4 + 1 2268 c.1855C>T c.(1855-1857)Cct>Tct p.P619S NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 619 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCTGGTGTCCCTGGGGGCAG 0.602000 5 24 0 0 0.001984 0 0 FGF7 2252 broad.mit.edu 37 15 49775396 49775396 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:49775396G>A ENST00000267843.4 + 3 946 c.335G>A c.(334-336)gGg>gAg p.G112E FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 112 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) GCAATCAAAGGGGTGGAAAGT 0.353000 13 19 0 0 0.004007 0 0 DNAH7 56171 broad.mit.edu 37 2 196664178 196664178 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:196664178C>T ENST00000312428.6 - 55 10295 c.10195G>A c.(10195-10197)Gaa>Aaa p.E3399K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3399 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATTATAAATTCCTGCAACATT 0.363000 42 78 0 0 0.003610 0 0 GANC 2595 broad.mit.edu 37 15 42631902 42631902 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:42631902G>A ENST00000318010.8 + 17 2119 c.1879G>A c.(1879-1881)Gag>Aag p.E627K NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 627 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TCCAGAGACAGAGCTGCTAGT 0.542000 18 58 0 0 0.007413 0 0 FAM227B 196951 broad.mit.edu 37 15 49867220 49867220 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:49867220G>A ENST00000299338.6 - 8 936 c.633C>T c.(631-633)ctC>ctT p.L211L FAM227B_ENST00000561064.1_Silent_p.L211L NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TAAATTTATGGAGAAACCACC 0.289000 5 34 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179606491 179606491 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179606491G>A ENST00000589042.1 - 48 11693 c.11469C>T c.(11467-11469)atC>atT p.I3823I TTN_ENST00000359218.5_Silent_p.I3585I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Silent_p.I3460I|TTN_ENST00000342175.6_Silent_p.I3652I|TTN_ENST00000591111.1_Silent_p.I3506I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3506 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) ACACTTCTTTGATGAAAATTG 0.373000 12 39 0 0 0.001855 0 0 ANXA6 309 broad.mit.edu 37 5 150501799 150501799 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:150501799G>A ENST00000354546.5 - 17 1483 c.1256C>T c.(1255-1257)tCt>tTt p.S419F ANXA6_ENST00000377751.5_Missense_Mutation_p.S76F|ANXA6_ENST00000521512.1_Missense_Mutation_p.S212F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S419F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S387F NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 419 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGAGATCTCAGACTTCAGGTC 0.532000 6 12 0 0 0.001168 0 0 DNAH5 1767 broad.mit.edu 37 5 13735385 13735385 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13735385G>A ENST00000265104.4 - 68 11720 c.11616C>T c.(11614-11616)atC>atT p.I3872I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3872 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCATGTGCTCGATGATATTAG 0.443000 Kartagener syndrome 7 25 0 0 0.003080 0 0 FBXO40 51725 broad.mit.edu 37 3 121340805 121340805 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:121340805G>A ENST00000338040.4 + 3 943 c.529G>A c.(529-531)Gat>Aat p.D177N NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 177 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GGGTGGAGTGGATATCGGTTT 0.498000 13 39 0 0 0.001855 0 0 TRAV8-6 28680 broad.mit.edu 37 14 22447334 22447334 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:22447334G>A ENST00000390443.3 + 0 535 TAAGCGACACGGCTGAGTACT 0.478000 20 26 0 0 0.010504 0 0 STAG3 10734 broad.mit.edu 37 7 99798112 99798112 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:99798112C>T ENST00000426455.1 + 18 2214 c.1807C>T c.(1807-1809)Cag>Tag p.Q603* STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Nonsense_Mutation_p.Q545*|STAG3_ENST00000317296.5_Nonsense_Mutation_p.Q603* Q9UJ98 STAG3_HUMAN stromal antigen 3 603 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCCCTGCTCCAGCTTCTCAG 0.537000 45 20 0 0 0.003610 0 0 PRDM14 63978 broad.mit.edu 37 8 70981499 70981499 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:70981499C>T ENST00000276594.2 - 2 798 c.597G>A c.(595-597)gaG>gaA p.E199E NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GCAGGTCCTCCTCCGTGAACT 0.602000 20 49 0 0 0.010504 0 0 ZAN 7455 broad.mit.edu 37 7 100373429 100373429 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:100373429G>A ENST00000542585.1 + 0 6311 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTTAGAGATTGAAATCCCCAC 0.537000 34 18 0 0 0.003271 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472375 47472375 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:47472375G>A ENST00000266581.4 - 2 877 c.411C>T c.(409-411)ttC>ttT p.F137F AMIGO2_ENST00000550413.1_Silent_p.F137F|AMIGO2_ENST00000429635.1_Silent_p.F137F|AMIGO2_ENST00000321382.3_Silent_p.F137F NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 137 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TCAACTCTTGGAATACAGCAT 0.438000 19 55 0 0 0.007413 0 0 ERP44 23071 broad.mit.edu 37 9 102744907 102744907 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:102744907C>T ENST00000262455.6 - 12 1407 c.1208G>A c.(1207-1209)cGa>cAa p.R403Q NM_015051.1 NP_055866.1 Q9BS26 ERP44_HUMAN endoplasmic reticulum protein 44 403 cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment protein binding|protein disulfide isomerase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2) 19 AAGCTCATCTCGATCCCTCAA 0.393000 12 18 0 0 0.001368 0 0 MIB2 142678 broad.mit.edu 37 1 1559297 1559297 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:1559297G>A ENST00000357210.4 + 4 781 c.565G>A c.(565-567)Gac>Aac p.D189N MIB2_ENST00000360522.4_Missense_Mutation_p.D189N|MIB2_ENST00000518681.1_Missense_Mutation_p.D246N|MIB2_ENST00000520777.1_Missense_Mutation_p.D246N|MIB2_ENST00000378710.3_Missense_Mutation_p.D189N|MIB2_ENST00000504599.1_Missense_Mutation_p.D145N|MIB2_ENST00000378708.1_Missense_Mutation_p.D131N|MIB2_ENST00000378712.1_Missense_Mutation_p.D131N|MIB2_ENST00000505820.2_Missense_Mutation_p.D246N|MIB2_ENST00000355826.5_Missense_Mutation_p.D232N|MIB2_ENST00000512004.1_3'UTR NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 189 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCACGCCTTCGACCGCTACGA 0.692000 9 22 0 0 0.008291 0 0 ATG2B 55102 broad.mit.edu 37 14 96790257 96790257 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:96790257G>A ENST00000359933.4 - 16 3409 c.2516C>T c.(2515-2517)tCg>tTg p.S839L NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 839 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GTCATCTGACGATGTTGTATC 0.343000 17 39 0 0 0.010504 0 0 CILP2 148113 broad.mit.edu 37 19 19655734 19655734 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:19655734C>T ENST00000586018.1 + 8 2500 c.2398C>T c.(2398-2400)Ccc>Tcc p.P800S CILP2_ENST00000291495.4_Missense_Mutation_p.P794S Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 794 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CGCCTGCCTCCCCGCCTTCTG 0.746000 3 16 0 0 0.009096 0 0 LAMB1 3912 broad.mit.edu 37 7 107603371 107603371 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:107603371G>A ENST00000393561.1 - 13 2092 c.1908C>T c.(1906-1908)atC>atT p.I636I LAMB1_ENST00000393560.1_Silent_p.I612I|LAMB1_ENST00000222399.6_Silent_p.I612I P07942 LAMB1_HUMAN laminin, beta 1 612 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCGAATTAGGATGTCGTACT 0.468000 118 42 0 0 0.003610 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18636920 18636920 + Missense_Mutation SNP G G A rs138155181 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:18636920G>A ENST00000336349.5 - 3 1136 c.901C>T c.(901-903)Cgt>Tgt p.R301C NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 301 Ser-rich. p.R301C(3) breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 TGGCCCTCACGAAGTGAGGGT 0.507000 31 97 0 0 0.009535 0 0 MON1B 22879 broad.mit.edu 37 16 77228850 77228850 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:77228850C>T ENST00000248248.3 + 4 1444 c.1094C>T c.(1093-1095)gCc>gTc p.A365V MON1B_ENST00000439557.2_Missense_Mutation_p.A256V|MON1B_ENST00000545553.1_Missense_Mutation_p.A219V|MON1B_ENST00000320859.6_Intron NM_014940.2 NP_055755.1 Q7L1V2 MON1B_HUMAN MON1 secretory trafficking family member B 365 protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 17 GCCATGGCCGCCTGCCGGCGC 0.612000 8 21 0 0 0.003080 0 0 SLC2A4RG 56731 broad.mit.edu 37 20 62373328 62373328 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:62373328C>T ENST00000266077.2 + 4 550 c.498C>T c.(496-498)tcC>tcT p.S166S SLC2A4RG_ENST00000493772.1_Intron NM_020062.3 NP_064446.2 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 166 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1) 7 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GTGACCAGTCCTCTCCGTCCA 0.677000 14 29 0 0 0.004007 0 0 ABCA12 26154 broad.mit.edu 37 2 215914410 215914410 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:215914410G>A ENST00000272895.7 - 6 852 c.633C>T c.(631-633)tgC>tgT p.C211C NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 211 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGTTAGAAAGGCAAAATTTGT 0.378000 21 29 0 0 0.001882 0 0 LRRTM2 26045 broad.mit.edu 37 5 138208914 138208914 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:138208914T>C ENST00000274711.6 - 2 1714 c.1336A>G c.(1336-1338)Aag>Gag p.K446E LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Missense_Mutation_p.K7E|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron NM_015564.2 NP_056379.1 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 446 cell junction|integral to membrane|postsynaptic membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GGGCAGCACTTCCTGGAGATG 0.423000 23 70 0 0 0.002299 0 0 NUFIP1 26747 broad.mit.edu 37 13 45563540 45563540 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:45563540G>A ENST00000379161.4 - 1 78 c.32C>T c.(31-33)cCt>cTt p.P11L RP11-321C24.1_ENST00000437748.2_lincRNA NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 11 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) CCACCCGATAGGAGTCTCGAA 0.622000 7 25 0 0 0.003080 0 0 CDPF1 150383 broad.mit.edu 37 22 46644127 46644127 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:46644127T>C ENST00000314567.3 - 2 478 c.55A>G c.(55-57)Acc>Gcc p.T19A CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404583.1_Missense_Mutation_p.T19A|CDPF1_ENST00000404744.1_Missense_Mutation_p.T19A NM_207327.4 NP_997210.3 cysteine-rich, DPF motif domain containing 1 GCTGTCAAGGTACAGAGTTCA 0.577000 7 16 0 0 0.004482 0 0 ZNF829 374899 broad.mit.edu 37 19 37382511 37382511 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:37382511A>C ENST00000520965.1 - 6 1491 c.1425T>G c.(1423-1425)aaT>aaG p.N475K ZNF829_ENST00000391711.3_Missense_Mutation_p.N394K|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTCGAGTAAGATTTGAGCCTT 0.403000 20 24 0 0 0.002780 0 0 FEM1A 55527 broad.mit.edu 37 19 4793084 4793084 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:4793084C>T ENST00000269856.3 + 1 1357 c.1218C>T c.(1216-1218)ttC>ttT p.F406F AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 406 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.F406F(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CGGGCAATTTCGAGCGCTGCA 0.622000 29 55 0 0 0.008361 0 0 SPATA12 353324 broad.mit.edu 37 3 57107844 57107844 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:57107844C>G ENST00000334325.1 + 2 797 c.122C>G c.(121-123)aCc>aGc p.T41S ARHGEF3_ENST00000338458.4_Intron NM_181727.1 NP_859078.1 Q7Z6I5 SPT12_HUMAN spermatogenesis associated 12 41 large_intestine(2)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129) GGGTCATCCACCCAACATCCC 0.577000 24 50 0 0 0.003330 0 0 EMR1 2015 broad.mit.edu 37 19 6924812 6924812 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:6924812C>T ENST00000312053.4 + 15 1952 c.1915C>T c.(1915-1917)Ctg>Ttg p.L639L EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.L587L|EMR1_ENST00000381407.5_Silent_p.L498L|EMR1_ENST00000450315.3_Silent_p.L462L NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 639 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CTACCTCCACCTGCACCTCTG 0.552000 19 40 0 0 0.008871 0 0 FANCI 55215 broad.mit.edu 37 15 89843548 89843548 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:89843548G>A ENST00000310775.7 + 26 2907 c.2821G>A c.(2821-2823)Gga>Aga p.G941R FANCI_ENST00000300027.8_Missense_Mutation_p.G881R NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 941 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) AGATAAGGAAGGAGAAGAGAG 0.408000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 31 35 0 0 0.003271 0 0 GAD1 2571 broad.mit.edu 37 2 171705805 171705805 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:171705805G>A ENST00000358196.3 + 12 1679 c.1129G>A c.(1129-1131)Gga>Aga p.G377R NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 377 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGCTGCCTGGGGAGGTGGGCT 0.522000 10 47 0 0 0.008291 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94639580 94639580 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:94639580T>C ENST00000260526.6 - 23 3813 c.3631A>G c.(3631-3633)Aaa>Gaa p.K1211E NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1211 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GCTGATGCTTTGTCTGGGTCT 0.547000 13 25 0 0 0.001855 0 0 WDR49 151790 broad.mit.edu 37 3 167196684 167196684 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:167196684C>T ENST00000308378.3 - 15 2381 c.2076G>A c.(2074-2076)gtG>gtA p.V692V WDR49_ENST00000476376.1_Silent_p.V517V|WDR49_ENST00000479765.1_3'UTR|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000453925.2_Silent_p.V657V NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 692 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 TATTTTTCTTCACTTCACAAC 0.318000 18 27 0 0 0.004990 0 0 FAM160B1 57700 broad.mit.edu 37 10 116602693 116602693 + Splice_Site SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:116602693A>T ENST00000369248.4 + 6 859 c.522_splice c.e6-1 p.N175_splice FAM160B1_ENST00000369250.3_Splice_Site_p.N175_splice NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 175 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 CCTTTTCAGAATAAGATGAAA 0.308000 8 7 0 0 0.003080 0 0 EPHA7 2045 broad.mit.edu 37 6 94066578 94066578 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:94066578C>T ENST00000369303.4 - 5 1365 c.1181G>A c.(1180-1182)gGa>gAa p.G394E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 394 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATCCTCTAATCCAGTCTGCTG 0.463000 20 51 0 0 0.002299 0 0 TMEM145 284339 broad.mit.edu 37 19 42818443 42818443 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:42818443G>A ENST00000598766.1 + 2 140 c.140G>A c.(139-141)aGa>aAa p.R47K TMEM145_ENST00000301204.3_Missense_Mutation_p.R47K|TMEM145_ENST00000601020.1_3'UTR Q8NBT3 TM145_HUMAN transmembrane protein 145 47 integral to membrane p.R47K(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) TTCCTGACAAGATTTTGTTTC 0.542000 50 96 0 0 0.003610 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485190 97485190 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:97485190C>T ENST00000376705.2 + 2 1178 c.1154C>T c.(1153-1155)tCt>tTt p.S385F NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 385 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) ACGCGGGCTTCTAACGTGGAG 0.502000 23 52 0 0 0.003954 0 0 ATL3 25923 broad.mit.edu 37 11 63398562 63398562 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:63398562G>A ENST00000398868.3 - 12 1765 c.1489C>T c.(1489-1491)Cgt>Tgt p.R497C ATL3_ENST00000332645.4_Missense_Mutation_p.R524C|ATL3_ENST00000538786.1_Missense_Mutation_p.R479C NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 497 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 CCCAGCTCACGATATTGACCA 0.483000 19 37 0 0 0.010504 0 0 ITGA4 3676 broad.mit.edu 37 2 182396465 182396465 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:182396465C>T ENST00000397033.2 + 25 3176 c.2746C>T c.(2746-2748)Cat>Tat p.H916Y NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 916 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGCCAGTGTTCATATCCAACT 0.343000 45 97 0 0 0.003610 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709855 128709855 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:128709855G>A ENST00000392665.2 - 2 428 c.284C>T c.(283-285)cCt>cTt p.P95L KCNJ1_ENST00000392666.1_Missense_Mutation_p.P95L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.P95L|KCNJ1_ENST00000392664.2_Missense_Mutation_p.P114L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.P95L NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 114 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) ATTGGCAGAAGGATGGAATTC 0.453000 16 39 0 0 0.003163 0 0 CPEB4 80315 broad.mit.edu 37 5 173337594 173337594 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:173337594T>G ENST00000265085.5 + 2 2648 c.1194T>G c.(1192-1194)aaT>aaG p.N398K CPEB4_ENST00000517880.1_Missense_Mutation_p.N16K|CPEB4_ENST00000334035.5_Missense_Mutation_p.N398K|CPEB4_ENST00000519835.1_Missense_Mutation_p.N398K|CPEB4_ENST00000520867.1_Missense_Mutation_p.N398K|CPEB4_ENST00000522336.1_Missense_Mutation_p.N16K NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 398 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GAGCTGAAAATGATACCATTA 0.353000 28 65 0 0 0.005443 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635487 122635487 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:122635487A>C ENST00000249284.2 - 1 267 c.202T>G c.(202-204)Ttt>Gtt p.F68V NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 68 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TAGGAGCAAAAATTGTTCAGC 0.403000 18 70 0 0 0.008871 0 0 INTS4P2 644619 broad.mit.edu 37 7 65150682 65150682 + RNA SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:65150682G>A ENST00000430126.2 + 0 663 TGAAATTGAGGAAGTACGTCT 0.483000 8 5 0 0 0.004482 0 0 DSP 1832 broad.mit.edu 37 6 7586062 7586062 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:7586062C>G ENST00000379802.3 + 24 8908 c.8567C>G c.(8566-8568)tCt>tGt p.S2856C DSP_ENST00000418664.2_Missense_Mutation_p.S2257C NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2856 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACAGGGAATTCTTCCTACTCT 0.542000 44 127 0 0 0.003610 0 0 CAPN1 823 broad.mit.edu 37 11 64972273 64972273 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:64972273C>T ENST00000527323.1 + 10 1525 c.1285C>T c.(1285-1287)Cgc>Tgc p.R429C CAPN1_ENST00000279247.6_Missense_Mutation_p.R429C|CAPN1_ENST00000533129.1_Missense_Mutation_p.R429C|CAPN1_ENST00000524773.1_Missense_Mutation_p.R429C|CAPN1_ENST00000533820.1_Missense_Mutation_p.R429C P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 429 Domain III. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) GAAGCACCGTCGCCGCGAGCG 0.632000 OREG0021073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 44 0 0 0.003080 0 0 NAT2 10 broad.mit.edu 37 8 18257721 18257721 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:18257721C>T ENST00000286479.3 + 2 315 c.208C>T c.(208-210)Cag>Tag p.Q70* NAT2_ENST00000520116.1_Intron NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 70 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) GTGGTGTCTCCAGGTCAATCA 0.453000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 34 97 0 0 0.004289 0 0 OR7C2 26658 broad.mit.edu 37 19 15053167 15053167 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:15053167C>T ENST00000248072.3 + 1 867 c.867C>T c.(865-867)taC>taT p.Y289Y NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) CCTTCATCTACAGCCTGAGGA 0.537000 26 74 0 0 0.003954 0 0 FAM150B 285016 broad.mit.edu 37 2 283168 283168 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:283168T>G ENST00000403610.4 - 5 736 c.396A>C c.(394-396)aaA>aaC p.K132N FAM150B_ENST00000344414.5_Missense_Mutation_p.K40N|FAM150B_ENST00000401503.1_Missense_Mutation_p.K40N|FAM150B_ENST00000405290.1_Missense_Mutation_p.K40N NM_001002919.2 NP_001002919.2 Q6UX46 F150B_HUMAN family with sequence similarity 150, member B 132 extracellular region breast(1)|kidney(2) 3 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.00091)|Epithelial(75;0.00656)|OV - Ovarian serous cystadenocarcinoma(76;0.00954)|GBM - Glioblastoma multiforme(21;0.128) TGGCGCATCTTTTATAGTCTA 0.408000 6 27 0 0 0.003080 0 0 SLC38A1 81539 broad.mit.edu 37 12 46598182 46598182 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:46598182G>A ENST00000398637.5 - 11 1418 c.724C>T c.(724-726)Caa>Taa p.Q242* SLC38A1_ENST00000439706.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000549049.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000546893.1_Nonsense_Mutation_p.Q242*|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Nonsense_Mutation_p.Q242* NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 242 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CAGGGAATTTGAAATTTCTTG 0.323000 40 102 0 0 0.006230 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955550 18955550 + Missense_Mutation SNP G G A rs150108666 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:18955550G>A ENST00000302797.3 - 1 1006 c.782C>T c.(781-783)tCc>tTc p.S261F NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 261 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTTAAGAGCGGACAGGAAAAT 0.463000 14 43 0 0 0.004007 0 0 MEIS2 4212 broad.mit.edu 37 15 37387790 37387790 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:37387790G>A ENST00000338564.5 - 5 859 c.413C>T c.(412-414)tCc>tTc p.S138F MEIS2_ENST00000382766.2_Missense_Mutation_p.S138F|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000340545.5_Missense_Mutation_p.S125F|MEIS2_ENST00000561208.1_Missense_Mutation_p.S138F|MEIS2_ENST00000559085.1_Missense_Mutation_p.S125F|MEIS2_ENST00000559561.1_Missense_Mutation_p.S138F|MEIS2_ENST00000557796.2_Missense_Mutation_p.S125F|MEIS2_ENST00000444725.1_Missense_Mutation_p.S138F|MEIS2_ENST00000424352.2_Missense_Mutation_p.S138F|MEIS2_ENST00000397624.3_Missense_Mutation_p.S50F|MEIS2_ENST00000397620.2_Missense_Mutation_p.S50F NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 138 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TGGATTTGAGGAAAAAAGTGG 0.468000 10 33 0 0 0.000978 0 0 DPP4 1803 broad.mit.edu 37 2 162875760 162875760 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:162875760C>T ENST00000360534.3 - 15 1831 c.1271G>A c.(1270-1272)gGa>gAa p.G424E NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 424 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) TCCTGGCATTCCTTTATATTC 0.318000 16 58 0 0 0.004007 0 0 TOP3B 8940 broad.mit.edu 37 22 22316831 22316831 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:22316831G>A ENST00000398793.2 - 13 1929 c.1495C>T c.(1495-1497)Ctc>Ttc p.L499F TOP3B_ENST00000413067.2_Missense_Mutation_p.L228F|TOP3B_ENST00000357179.5_Missense_Mutation_p.L499F NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 499 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AGCGTGATGAGCTCGGCCTCC 0.632000 41 80 0 0 0.002852 0 0 OR4A47 403253 broad.mit.edu 37 11 48510356 48510356 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:48510356G>A ENST00000446524.1 + 1 88 c.12G>A c.(10-12)agG>agA p.R4R NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGGAGCCAAGGAAAAATGTGA 0.363000 7 11 0 0 0.004482 0 0 KIAA1841 84542 broad.mit.edu 37 2 61308628 61308628 + Silent SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:61308628T>C ENST00000402291.1 + 7 953 c.712T>C c.(712-714)Tta>Cta p.L238L KIAA1841_ENST00000356719.2_Silent_p.L238L|KIAA1841_ENST00000295031.5_Silent_p.L238L|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Silent_p.L238L NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 238 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) TTCGGAGTTTTTAAAAATGGA 0.308000 33 75 0 0 0.003755 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21358809 21358809 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:21358809C>T ENST00000256958.2 + 11 1435 c.1339C>T c.(1339-1341)Cca>Tca p.P447S NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 447 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CAGAAATAATCCAGTGACATC 0.368000 14 47 0 0 0.002450 0 0 MFSD12 126321 broad.mit.edu 37 19 3547919 3547919 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:3547919G>A ENST00000355415.2 - 4 933 c.764C>T c.(763-765)cCc>cTc p.P255L MFSD12_ENST00000398558.4_Missense_Mutation_p.P255L|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Missense_Mutation_p.P255L|AC005786.7_ENST00000589360.1_RNA NM_174983.3 NP_778148.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 255 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 GGCCAACAGGGGGGTGTGCTC 0.716000 8 4 0 0 0.004482 0 0 TPGS2 25941 broad.mit.edu 37 18 34398865 34398865 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:34398865A>G ENST00000334295.4 - 2 584 c.157T>C c.(157-159)Tgg>Cgg p.W53R TPGS2_ENST00000590842.1_Missense_Mutation_p.W53R|TPGS2_ENST00000383056.3_Missense_Mutation_p.W53R|TPGS2_ENST00000587129.1_Missense_Mutation_p.W53R|TPGS2_ENST00000589049.1_Missense_Mutation_p.W53R|TPGS2_ENST00000593035.1_Missense_Mutation_p.W53R NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 53 cytoplasm|microtubule ACTTGTTCCCAGGAAGAAATC 0.433000 38 77 0 0 0.002852 0 0 OR2A14 135941 broad.mit.edu 37 7 143826740 143826740 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:143826740G>A ENST00000408899.2 + 1 590 c.535G>A c.(535-537)Gaa>Aaa p.E179K NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CTTCTTCTGTGAAATCCTGTC 0.562000 215 214 0 0 0.003610 0 0 ZNF529 57711 broad.mit.edu 37 19 37038114 37038114 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:37038114G>A ENST00000334116.7 - 6 1641 c.1031C>T c.(1030-1032)cCt>cTt p.P344L ZNF529_ENST00000591340.1_Missense_Mutation_p.P449L NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) ACATTCATAAGGTTTTTGACC 0.358000 30 45 0 0 0.002445 0 0 ZNF773 374928 broad.mit.edu 37 19 58016719 58016719 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:58016719G>A ENST00000599847.1 + 3 355 c.213G>A c.(211-213)gaG>gaA p.E71E ZNF773_ENST00000282292.4_Silent_p.E71E|ZNF773_ENST00000598770.1_Silent_p.E70E|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000593916.1_Silent_p.E70E Q6PK81 ZN773_HUMAN zinc finger protein 773 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) AGTCATGGGAGGAGCCCTTCA 0.512000 23 59 0 0 0.002836 0 0 LSR 51599 broad.mit.edu 37 19 35741242 35741242 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:35741242C>T ENST00000602122.1 + 2 765 c.278C>T c.(277-279)aCc>aTc p.T93I LSR_ENST00000361790.3_Missense_Mutation_p.T93I|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000347609.4_Missense_Mutation_p.T56I|LSR_ENST00000427250.1_Missense_Mutation_p.T45I|LSR_ENST00000354900.3_Missense_Mutation_p.T93I|LSR_ENST00000360798.3_Missense_Mutation_p.T93I Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 93 Ig-like V-type. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) ATCCAGGTGACCGTGTCCAAC 0.612000 73 225 0 0 0.003610 0 0 SHPRH 257218 broad.mit.edu 37 6 146243875 146243875 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:146243875C>T ENST00000367503.3 - 19 4053 c.3655G>A c.(3655-3657)Gag>Aag p.E1219K SHPRH_ENST00000275233.7_Missense_Mutation_p.E1215K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1219K|SHPRH_ENST00000367505.2_Missense_Mutation_p.E1215K NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1215 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GGAGGTCCCTCCAGGTTTTTT 0.438000 13 45 0 0 0.001368 0 0 ZNF274 10782 broad.mit.edu 37 19 58721332 58721332 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:58721332C>T ENST00000326804.4 + 7 1201 c.742C>T c.(742-744)Cct>Tct p.P248S ZNF274_ENST00000424679.2_Missense_Mutation_p.P143S|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.P216S NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 249 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) CCCAGTACTTCCTGCAGGACA 0.647000 10 18 0 0 0.000978 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122459599 122459599 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:122459599T>C ENST00000306103.2 - 8 1203 c.1060A>G c.(1060-1062)Atg>Gtg p.M354V HSPBAP1_ENST00000383659.1_3'UTR NM_024610.5 NP_078886.2 Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 354 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) TCCTTTTTCATGTGCTCTCCA 0.458000 62 127 0 0 0.003610 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542082 133542082 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:133542082G>A ENST00000409261.1 - 14 2675 c.2302C>T c.(2302-2304)Cct>Tct p.P768S NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P768S NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 768 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGCTGCTGAGGATTTTGTGTC 0.433000 29 59 0 0 0.002096 0 0 NLRP8 126205 broad.mit.edu 37 19 56465912 56465912 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:56465912C>T ENST00000291971.3 + 3 559 c.488C>T c.(487-489)cCc>cTc p.P163L NLRP8_ENST00000590542.1_Missense_Mutation_p.P163L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 163 cytoplasm ATP binding p.P163H(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AAGTTTTTCCCCATATGGGAC 0.438000 22 62 0 0 0.010504 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100222291 100222291 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:100222291G>A ENST00000231461.5 - 3 569 c.259C>T c.(259-261)Cgt>Tgt p.R87C ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R87C|ST8SIA4_ENST00000507360.2_5'UTR NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 87 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TCTAAGAAACGAAGTATGTTC 0.388000 26 36 0 0 0.003330 0 0 VWF 7450 broad.mit.edu 37 12 6220133 6220133 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:6220133C>T ENST00000261405.5 - 4 476 c.220_splice c.e4-1 p.G74_splice VWF_ENST00000572068.1_Splice_Site_p.G111_splice NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 74 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCTGGAAGTCCCCTGAAAGAG 0.388000 23 62 0 0 0.002299 0 0 PFKL 5211 broad.mit.edu 37 21 45741700 45741700 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:45741700C>T ENST00000403390.1 + 14 1421 c.1421C>T c.(1420-1422)tCc>tTc p.S474F PFKL_ENST00000349048.4_Missense_Mutation_p.S427F P17858 K6PL_HUMAN phosphofructokinase, liver 427 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) ACCGGCATCTCCCATGGACAC 0.627000 22 68 0 0 0.002299 0 0 C3 718 broad.mit.edu 37 19 6709694 6709694 + Splice_Site SNP C C T rs111861067 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:6709694C>T ENST00000245907.6 - 14 1938 c.e14+1 NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTGGCCCTTACCTTACTCTGC 0.627000 54 159 0 0 0.003610 0 0 TRIM10 10107 broad.mit.edu 37 6 30128443 30128443 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:30128443G>A ENST00000449742.2 - 1 268 c.193C>T c.(193-195)Cgt>Tgt p.R65C TRIM10_ENST00000376704.3_Missense_Mutation_p.R65C NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 65 R -> H (in dbSNP:rs12212092). cytoplasm zinc ion binding ovary(1) 1 CTCCCAGGACGGAAGGGTTCT 0.612000 63 174 0 0 0.003610 0 0 ATP5C1 509 broad.mit.edu 37 10 7841754 7841754 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:7841754C>A ENST00000356708.7 + 5 527 c.448C>A c.(448-450)Ctg>Atg p.L150M ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.L150M|ATP5C1_ENST00000541227.1_Missense_Mutation_p.L103M NM_001001973.1 NP_001001973.1 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 150 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 16 TGACCAGTTTCTGGTGGCATT 0.423000 23 43 1.87028e-06 2.15326e-06 0.001882 1 0 CSNK1G3 1456 broad.mit.edu 37 5 122930761 122930761 + Missense_Mutation SNP C C A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:122930761C>A ENST00000395412.1 + 11 1834 c.1115C>A c.(1114-1116)tCc>tAc p.S372Y CSNK1G3_ENST00000395411.1_Missense_Mutation_p.S372Y|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.S372Y|CSNK1G3_ENST00000345990.4_Intron|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Intron|CSNK1G3_ENST00000521364.1_Intron|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.S372Y|CSNK1G3_ENST00000511130.2_Intron NM_001044723.1 NP_001038188.1 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 372 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) GCTTGGGACTCCCAGCAGGCA 0.443000 18 59 2.4624e-09 2.84024e-09 0.008871 1 0 TLL1 7092 broad.mit.edu 37 4 167012404 167012404 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:167012404C>T ENST00000061240.2 + 19 3214 c.2567C>T c.(2566-2568)cCc>cTc p.P856L TLL1_ENST00000507499.1_Missense_Mutation_p.P879L NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 856 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ATACCAGATCCCCTTGTGGCT 0.403000 10 30 0 0 0.008291 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38597184 38597184 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:38597184C>T ENST00000222345.6 + 7 2546 c.2037C>T c.(2035-2037)tcC>tcT p.S679S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 679 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CAGCCGACTCCACGGGAACCC 0.512000 25 65 0 0 0.007291 0 0 EPHA4 2043 broad.mit.edu 37 2 222321436 222321436 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:222321436G>A ENST00000281821.2 - 7 1541 c.1500C>T c.(1498-1500)atC>atT p.I500I EPHA4_ENST00000392071.4_Silent_p.I449I|EPHA4_ENST00000409938.1_Silent_p.I500I|EPHA4_ENST00000409854.1_Silent_p.I500I NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 500 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TCAGGCCTTTGATATCTGTGT 0.478000 21 52 0 0 0.002299 0 0 DOCK4 9732 broad.mit.edu 37 7 111509675 111509675 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:111509675C>T ENST00000428084.1 - 21 2336 c.2064G>A c.(2062-2064)cgG>cgA p.R688R DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.R688R Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 688 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CTTCTGTGATCCGGTCCACGT 0.423000 49 20 0 0 0.003610 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716487 13716487 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:13716487C>T ENST00000279593.3 - 13 3894 c.3685G>A c.(3685-3687)Gtg>Atg p.V1229M NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1229 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGACCCGTCACCGTCGTGGAG 0.602000 19 22 0 0 0.008871 0 0 FAM114A2 10827 broad.mit.edu 37 5 153372608 153372608 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:153372608G>A ENST00000351797.4 - 14 1522 c.1446C>T c.(1444-1446)atC>atT p.I482I FAM114A2_ENST00000520667.1_Silent_p.I482I|FAM114A2_ENST00000522858.1_Silent_p.I482I|FAM114A2_ENST00000518946.1_5'UTR|FAM114A2_ENST00000520313.1_Silent_p.I412I NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 482 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 CAATGAGAGAGATCTCTAGCA 0.428000 23 71 0 0 0.002780 0 0 DPP10 57628 broad.mit.edu 37 2 116101408 116101408 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:116101408C>T ENST00000410059.1 + 3 671 c.191C>T c.(190-192)tCg>tTg p.S64L DPP10_ENST00000409163.1_Missense_Mutation_p.S14L|DPP10_ENST00000393147.2_Missense_Mutation_p.S68L|DPP10_ENST00000310323.8_Missense_Mutation_p.S57L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 64 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CTCACAAATTCGTCAGAAACC 0.348000 17 54 0 0 0.008871 0 0 ILF3 3609 broad.mit.edu 37 19 10792728 10792728 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:10792728C>T ENST00000449870.1 + 12 1557 c.1240C>T c.(1240-1242)Cca>Tca p.P414S ILF3_ENST00000420083.1_Missense_Mutation_p.P414S|ILF3_ENST00000318511.3_Missense_Mutation_p.P414S|ILF3_ENST00000407004.3_Missense_Mutation_p.P414S|ILF3_ENST00000589998.1_Missense_Mutation_p.P414S|ILF3_ENST00000590261.1_Missense_Mutation_p.P414S|ILF3_ENST00000588657.1_Missense_Mutation_p.P414S|ILF3_ENST00000592763.1_Missense_Mutation_p.P414S|ILF3_ENST00000250241.8_Missense_Mutation_p.P414S NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 414 DRBM 1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CCAGCTGAAGCCAGGGCTGCA 0.572000 17 39 0 0 0.006122 0 0 CPT2 1376 broad.mit.edu 37 1 53679049 53679049 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:53679049C>T ENST00000371486.3 + 5 2274 c.1759C>T c.(1759-1761)Ctg>Ttg p.L587L RP5-1024G6.2_ENST00000452466.1_RNA NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 587 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) CCACAATGTCCTGTCCACGAG 0.557000 36 88 0 0 0.003271 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26031889 26031889 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:26031889C>T ENST00000244661.2 - 1 399 c.400G>A c.(400-402)Gaa>Aaa p.E134K NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 134 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 TACGCTCTTTCTCCGCGAATG 0.458000 26 48 0 0 0.005443 0 0 LAMA1 284217 broad.mit.edu 37 18 7042163 7042163 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:7042163G>A ENST00000389658.3 - 9 1335 c.1242C>T c.(1240-1242)ctC>ctT p.L414L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 414 Laminin EGF-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTCAGAATGGAGGTCATCCT 0.443000 9 15 0 0 0.001368 0 0 ZBBX 79740 broad.mit.edu 37 3 166960362 166960362 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:166960362A>T ENST00000392766.2 - 20 2547 c.2207T>A c.(2206-2208)aTa>aAa p.I736K ZBBX_ENST00000392767.2_Missense_Mutation_p.I736K|ZBBX_ENST00000455345.2_Missense_Mutation_p.I775K|ZBBX_ENST00000307529.5_Missense_Mutation_p.I775K|ZBBX_ENST00000392764.1_Missense_Mutation_p.I707K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 736 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AATCTGACTTATATTCAGTGA 0.368000 15 36 0 0 0.004007 0 0 SYT17 51760 broad.mit.edu 37 16 19278375 19278375 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:19278375C>T ENST00000562034.1 + 6 5017 c.1219C>T c.(1219-1221)Cct>Tct p.P407S SYT17_ENST00000568433.1_Missense_Mutation_p.P162S|SYT17_ENST00000562711.2_Missense_Mutation_p.P464S|SYT17_ENST00000355377.2_Missense_Mutation_p.P468S Q9BSW7 SYT17_HUMAN synaptotagmin XVII 468 C2 2. membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 CCGCGTGTCTCCTGCCTCCCT 0.522000 7 7 0 0 0.004482 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834107 178834107 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:178834107C>T ENST00000234816.2 - 3 1252 c.805G>A c.(805-807)Gta>Ata p.V269I RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.V269I|RALGPS2_ENST00000367635.3_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 269 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 ATGAAAGTTACCGGTGGTATC 0.403000 25 39 0 0 0.003330 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413644 61413644 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:61413644G>A ENST00000395348.3 - 5 1776 c.1140C>T c.(1138-1140)atC>atT p.I380I SLC16A9_ENST00000395347.1_Silent_p.I380I NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 380 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 GGCCCATGATGATTAAGGTAG 0.418000 26 22 0 0 0.003954 0 0 PLCH1 23007 broad.mit.edu 37 3 155199879 155199879 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:155199879G>A ENST00000460012.1 - 23 4203 c.3846C>T c.(3844-3846)acC>acT p.T1282T PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.T1282T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.T1282T|PLCH1_ENST00000340059.7_Silent_p.T1320T Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1320 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTTCTCCCTTGGTAGGACTTT 0.498000 38 93 0 0 0.004878 0 0 ELAVL3 1995 broad.mit.edu 37 19 11569055 11569055 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:11569055C>T ENST00000359227.3 - 5 958 c.534G>A c.(532-534)gaG>gaA p.E178E ELAVL3_ENST00000438662.2_Silent_p.E178E NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 178 RRM 2. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 CCTCTTCGGCCTCAATCCTCT 0.592000 11 33 0 0 0.008291 0 0 TRPM2 7226 broad.mit.edu 37 21 45821766 45821766 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:45821766G>A ENST00000397928.1 + 16 2969 c.2524G>A c.(2524-2526)Gag>Aag p.E842K TRPM2_ENST00000300481.9_Missense_Mutation_p.E822K|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.E842K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E842K NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 842 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTTGGTGTGCGAGGAGATGCG 0.627000 70 113 0 0 0.003610 0 0 SALL2 6297 broad.mit.edu 37 14 21991828 21991828 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:21991828G>A ENST00000327430.3 - 2 2328 c.2034C>T c.(2032-2034)ttC>ttT p.F678F SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.F541F NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 678 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) TGTGGCCCACGAAATGTGCAC 0.567000 14 39 0 0 0.001855 0 0 NCOA6 23054 broad.mit.edu 37 20 33324560 33324560 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:33324560G>A ENST00000374796.2 - 13 8466 c.5896C>T c.(5896-5898)Ccg>Tcg p.P1966S NCOA6_ENST00000359003.2_Missense_Mutation_p.P1966S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1966 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TTCTGCGACGGGGCTAAGGCA 0.408000 8 28 0 0 0.003080 0 0 PTPN6 5777 broad.mit.edu 37 12 7065701 7065701 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:7065701C>T ENST00000456013.1 + 9 1286 c.1044C>T c.(1042-1044)gtC>gtT p.V348V PTPN6_ENST00000447931.2_Silent_p.V309V|PTPN6_ENST00000399448.1_Silent_p.V350V|PTPN6_ENST00000318974.9_Silent_p.V348V NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 348 Tyrosine-protein phosphatase. 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 GTGTCATCGTCATGACCACCC 0.607000 18 61 0 0 0.001882 0 0 SLX4IP 128710 broad.mit.edu 37 20 10541448 10541448 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:10541448C>T ENST00000334534.5 + 4 398 c.218C>T c.(217-219)tCc>tTc p.S73F NM_001009608.1 NP_001009608.1 SLX4 interacting protein TTCACAAGATCCAATCCCTTG 0.383000 13 27 0 0 0.001855 0 0 VANGL2 57216 broad.mit.edu 37 1 160389337 160389337 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:160389337C>T ENST00000368061.2 + 4 1212 c.738C>T c.(736-738)ttC>ttT p.F246F VANGL2_ENST00000483408.1_3'UTR NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 246 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCCTCAGTTCACGCTCAAGG 0.642000 18 29 0 0 0.001882 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767304 77767304 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:77767304C>T ENST00000521891.2 + 10 8595 c.8147C>T c.(8146-8148)tCc>tTc p.S2716F ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2671F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2671F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2690F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2671 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCTTTAATATCCACCGAAGAT 0.433000 HNSCC(33;0.089) 15 36 0 0 0.006122 0 0 UTS2B 257313 broad.mit.edu 37 3 190994611 190994611 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:190994611C>T ENST00000340524.5 - 7 1011 c.225G>A c.(223-225)ctG>ctA p.L75L UTS2B_ENST00000427544.2_Silent_p.L75L NM_198152.3 NP_937795.2 urotensin 2B TAAGTTCTTCCAGTTTGTTAG 0.294000 18 24 0 0 0.010504 0 0 IFNL3 282617 broad.mit.edu 37 19 39735076 39735076 + Nonsense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:39735076C>T ENST00000413851.2 - 2 277 c.239G>A c.(238-240)tGg>tAg p.W80* NM_172139.2 NP_742151.2 interferon, lambda 3 CCTCAGGTCCCAGGTCCTGGG 0.647000 6 17 0 0 0.003080 0 0 COL11A1 1301 broad.mit.edu 37 1 103483408 103483408 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:103483408G>A ENST00000358392.2 - 11 1734 c.1417C>T c.(1417-1419)Ccc>Tcc p.P473S COL11A1_ENST00000370096.3_Missense_Mutation_p.P461S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P345S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P422S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 461 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGTCCAGTGGGGCCTTGTAGA 0.383000 33 42 0 0 0.005524 0 0 GPR32 2854 broad.mit.edu 37 19 51274868 51274868 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:51274868G>A ENST00000270590.4 + 1 1148 c.1011G>A c.(1009-1011)agG>agA p.R337R NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 337 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCCTGGCGAGGGCGTTTGGAG 0.547000 46 65 0 0 0.003610 0 0 TRPC5 7224 broad.mit.edu 37 X 111155953 111155953 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:111155953C>T ENST00000262839.2 - 3 1384 c.466G>A c.(466-468)Gaa>Aaa p.E156K NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 156 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity p.E156K(2) biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTGATGATTTCGTAGTTGTTG 0.512000 53 18 0 0 0.003610 0 0 SFTPA1 653509 broad.mit.edu 37 10 81372115 81372115 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:81372115G>A ENST00000398636.3 + 4 358 c.220G>A c.(220-222)Ggg>Agg p.G74R SFTPA1_ENST00000419470.2_Missense_Mutation_p.G89R|SFTPA1_ENST00000372313.5_Missense_Mutation_p.G15R|SFTPA1_ENST00000372308.3_Missense_Mutation_p.G74R|SFTPA1_ENST00000428376.2_Missense_Mutation_p.G74R NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 74 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TGGAAATGATGGGCTGCCTGG 0.612000 72 99 0 0 0.003610 0 0 TPTE 7179 broad.mit.edu 37 21 10910328 10910328 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr21:10910328C>T ENST00000298232.7 - 21 1741 c.1374G>A c.(1372-1374)gtG>gtA p.V458V TPTE_ENST00000342420.5_Silent_p.V438V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.V476V NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 476 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.V476V(1)|p.V458V(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTGCACTTTCACATCATCAT 0.343000 12 108 0 0 0.001368 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607401 31607401 + Missense_Mutation SNP C C T rs150536106 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:31607401C>T ENST00000170150.3 + 11 1120 c.925C>T c.(925-927)Ccc>Tcc p.P309S NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 309 extracellular region lipid binding p.P309S(1) CCGCCAGTTTCCCGAGCCCAT 0.667000 6 14 0 0 0.004482 0 0 CBLC 23624 broad.mit.edu 37 19 45295716 45295716 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:45295716T>C ENST00000270279.3 + 7 1145 c.1082T>C c.(1081-1083)gTg>gCg p.V361A CBLC_ENST00000341505.4_Missense_Mutation_p.V315A NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 361 cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) AACAAGGATGTGAAGATTGAG 0.607000 M AML 46 100 0 0 0.003610 0 0 LPA 4018 broad.mit.edu 37 6 161016452 161016452 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:161016452C>T ENST00000447678.1 - 22 3523 c.3403G>A c.(3403-3405)Gaa>Aaa p.E1135K LPA_ENST00000316300.5_Missense_Mutation_p.E1135K NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3643 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACACTTGATTCTGTCACCAGG 0.522000 39 104 0 0 0.004878 0 0 VPS18 57617 broad.mit.edu 37 15 41191790 41191790 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:41191790C>T ENST00000220509.5 + 4 1113 c.774C>T c.(772-774)ttC>ttT p.F258F VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 258 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CACCCCCATTCCGTGAGTTTC 0.637000 25 59 0 0 0.004656 0 0 TET3 200424 broad.mit.edu 37 2 74274486 74274486 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:74274486C>T ENST00000409262.3 + 1 1037 c.1037C>T c.(1036-1038)cCt>cTt p.P346L NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 346 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TTCAAGCGGCCTGAGGCCCTG 0.642000 12 27 0 0 0.000978 0 0 ASXL2 55252 broad.mit.edu 37 2 25966191 25966191 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:25966191C>T ENST00000435504.4 - 13 3308 c.3015G>A c.(3013-3015)gaG>gaA p.E1005E ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Silent_p.E977E|ASXL2_ENST00000272341.4_Intron Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 1005 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATTAACTTCCTCTCTGGTGC 0.507000 15 31 0 0 0.003163 0 0 SLC43A2 124935 broad.mit.edu 37 17 1478958 1478958 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:1478958C>T ENST00000571650.1 - 15 1968 c.1662G>A c.(1660-1662)caG>caA p.Q554Q SLC43A2_ENST00000412517.3_Silent_p.Q413Q|SLC43A2_ENST00000301335.4_Silent_p.Q550Q|SLC43A2_ENST00000382147.4_Silent_p.Q554Q Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 550 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) TGTCATCCTCCTGCCTCTGCT 0.622000 10 12 0 0 0.008291 0 0 SEC24D 9871 broad.mit.edu 37 4 119736191 119736191 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:119736191G>A ENST00000379735.5 - 6 1067 c.796C>T c.(796-798)Cct>Tct p.P266S SEC24D_ENST00000280551.6_Missense_Mutation_p.P265S|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 265 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 ACTGGGCTAGGGATAGAGTCA 0.507000 20 106 0 0 0.002780 0 0 BMP10 27302 broad.mit.edu 37 2 69093461 69093461 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:69093461C>T ENST00000295379.1 - 2 735 c.577G>A c.(577-579)Gga>Aga p.G193R NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 193 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CTGTTGGTTCCATATATCTCC 0.483000 15 61 0 0 0.003163 0 0 GCDH 2639 broad.mit.edu 37 19 13007120 13007120 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:13007120C>T ENST00000222214.5 + 8 948 c.737C>T c.(736-738)tCg>tTg p.S246L GCDH_ENST00000422947.2_Missense_Mutation_p.S202L|GCDH_ENST00000457854.1_Missense_Mutation_p.S246L|GCDH_ENST00000591470.1_Missense_Mutation_p.S246L Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 246 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 CGGGGTCTCTCGGCCCCCAGG 0.607000 22 47 0 0 0.002299 0 0 ZNF621 285268 broad.mit.edu 37 3 40571772 40571772 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:40571772C>T ENST00000339296.5 + 4 676 c.224C>T c.(223-225)cCc>cTc p.P75L ZNF621_ENST00000310898.1_Missense_Mutation_p.P75L|ZNF621_ENST00000403205.2_Missense_Mutation_p.P75L|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000490457.1_3'UTR NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) GGCCCAGATCCCTGGGACACC 0.483000 20 78 0 0 0.010504 0 0 DENND3 22898 broad.mit.edu 37 8 142204213 142204213 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:142204213G>A ENST00000519811.1 + 23 3788 c.3718G>A c.(3718-3720)Gag>Aag p.E1240K DENND3_ENST00000262585.2_Missense_Mutation_p.E1160K|DENND3_ENST00000424248.1_Missense_Mutation_p.E1108K|DENND3_ENST00000523308.1_Missense_Mutation_p.E210K A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1160 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GAAGACCGTGGAGAAGGAGCT 0.637000 29 75 0 0 0.007291 0 0 LY96 23643 broad.mit.edu 37 8 74917030 74917030 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:74917030G>A ENST00000284818.2 + 2 203 c.e2-1 LY96_ENST00000518893.1_Intron NM_015364.4 NP_056179.3 Q9Y6Y9 LY96_HUMAN lymphocyte antigen 96 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding p.?(1) endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) ATTGCTTTTAGATAAAATGCA 0.269000 15 49 0 0 0.003163 0 0 CSMD3 114788 broad.mit.edu 37 8 113246664 113246664 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:113246664T>G ENST00000297405.5 - 68 10914 c.10670A>C c.(10669-10671)tAt>tCt p.Y3557S CSMD3_ENST00000455883.2_Missense_Mutation_p.Y3388S|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y3487S|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y3517S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3557 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTAATAAGATATATGCGTAA 0.338000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 44 100 0 0 0.003610 0 0 ARPP21 10777 broad.mit.edu 37 3 35750524 35750524 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:35750524G>A ENST00000187397.4 + 11 1315 c.859G>A c.(859-861)Gaa>Aaa p.E287K ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000458225.1_Intron NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 287 cytoplasm nucleic acid binding p.E287K(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GAGAGAAGAGGAATATCAGAG 0.403000 10 18 0 0 0.000978 0 0 OR4A16 81327 broad.mit.edu 37 11 55110964 55110964 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:55110964G>A ENST00000314721.2 + 1 338 c.288G>A c.(286-288)atG>atA p.M96I NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CAGCTTGCATGGGTCAGCTCT 0.448000 40 135 0 0 0.008740 0 0 GBP7 388646 broad.mit.edu 37 1 89599001 89599001 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:89599001C>T ENST00000294671.2 - 10 1740 c.1602G>A c.(1600-1602)atG>atA p.M534I NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 534 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TTTCCCTCTCCATCTTCTTCT 0.438000 42 41 0 0 0.009718 0 0 MUC16 94025 broad.mit.edu 37 19 9082363 9082363 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9082363G>A ENST00000397910.4 - 1 9655 c.9452C>T c.(9451-9453)cCt>cTt p.P3151L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3152 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTCTTGGCAGGAACTGAAAT 0.443000 22 46 0 0 0.002780 0 0 KIAA1109 84162 broad.mit.edu 37 4 123274229 123274229 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:123274229C>T ENST00000264501.4 + 81 14393 c.14020C>T c.(14020-14022)Cgt>Tgt p.R4674C KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4674C Q2LD37 K1109_HUMAN KIAA1109 4674 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCCAAATTTTCGTTCAAAATC 0.368000 28 34 0 0 0.005443 0 0 FNDC9 408263 broad.mit.edu 37 5 156770394 156770394 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:156770394C>T ENST00000312349.4 - 2 338 c.151G>A c.(151-153)Gag>Aag p.E51K CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 51 Fibronectin type-III. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 ACCTTCTCCTCGTGGTGGAAG 0.547000 42 66 0 0 0.002522 0 0 C9orf47 286223 broad.mit.edu 37 9 91606093 91606093 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:91606093G>A ENST00000375851.2 + 1 316 c.183G>A c.(181-183)gaG>gaA p.E61E C9orf47_ENST00000334490.5_Silent_p.E61E|C9orf47_ENST00000375850.3_Silent_p.E61E NM_001001938.3|NM_001142413.1 NP_001001938.1|NP_001135885.1 Q6ZRZ4 CI047_HUMAN chromosome 9 open reading frame 47 61 extracellular region endometrium(1)|large_intestine(1)|liver(1)|lung(1) 4 CGCCCGATGAGGACAAGGTCT 0.701000 3 6 0 0 0.009096 0 0 NAT10 55226 broad.mit.edu 37 11 34158550 34158550 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:34158550C>T ENST00000257829.3 + 21 2394 c.2188C>T c.(2188-2190)Cct>Tct p.P730S NAT10_ENST00000531159.2_Missense_Mutation_p.P658S|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 730 N-acetyltransferase.|Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TGGATTTGTTCCTGTTTATCT 0.512000 12 37 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179611580 179611580 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179611580G>A ENST00000360870.5 - 46 15769 c.15547C>T c.(15547-15549)Cca>Tca p.P5183S TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8702 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P5183T(1) 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) ATAAAAGATGGAGGCATTTCA 0.418000 33 75 0 0 0.002445 0 0 ZNF707 286075 broad.mit.edu 37 8 144773287 144773287 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:144773287G>A ENST00000532205.1 + 6 959 c.60G>A c.(58-60)gaG>gaA p.E20E ZNF707_ENST00000442058.2_Silent_p.E20E|ZNF707_ENST00000418203.2_Silent_p.E20E|ZNF707_ENST00000532158.1_Silent_p.E20E|ZNF707_ENST00000454097.1_Silent_p.E20E|ZNF707_ENST00000358656.4_Silent_p.E20E Q96C28 ZN707_HUMAN zinc finger protein 707 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCTCAAGGGAGGAGTGGGCGT 0.607000 4 28 0 0 0.009096 0 0 OR52B4 143496 broad.mit.edu 37 11 4388826 4388826 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:4388826C>T ENST00000408920.2 - 1 790 c.700G>A c.(700-702)Gat>Aat p.D234N NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGCAAGCATCTGGAGAAGGC 0.438000 21 64 0 0 0.002299 0 0 TRAF7 84231 broad.mit.edu 37 16 2223226 2223226 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:2223226G>C ENST00000326181.6 + 10 970 c.838G>C c.(838-840)Gag>Cag p.E280Q NM_032271.2 NP_115647.2 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7, E3 ubiquitin protein ligase 280 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 GACCCACCTGGAGACTTGCCG 0.647000 6 9 0 0 0.001984 0 0 HLA-A 3105 broad.mit.edu 37 6 29910549 29910549 + Missense_Mutation SNP G G A rs45585732 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:29910549G>A ENST00000396634.1 + 4 430 c.89G>A c.(88-90)aGg>aAg p.R30K HLA-A_ENST00000376809.5_Missense_Mutation_p.R30K|HLA-A_ENST00000376806.5_Missense_Mutation_p.R30K|HLA-A_ENST00000376802.2_Missense_Mutation_p.R30K P30443 1A01_HUMAN major histocompatibility complex, class I, A 30 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CACTCCATGAGGTATTTCTTC 0.721000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 19 0 0 0.000602 0 0 FLG2 388698 broad.mit.edu 37 1 152329535 152329535 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:152329535C>T ENST00000388718.5 - 3 799 c.727G>A c.(727-729)Gga>Aga p.G243R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 243 Ser-rich. calcium ion binding|structural molecule activity 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) GTCTCCAATCCACATGACAGA 0.473000 37 110 0 0 0.004289 0 0 ITIH2 3698 broad.mit.edu 37 10 7772068 7772068 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:7772068G>A ENST00000358415.4 + 12 1599 c.1433G>A c.(1432-1434)gGa>gAa p.G478E ITIH2_ENST00000379587.4_Missense_Mutation_p.G467E NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 478 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 AGGATTTATGGAAACCAGGAC 0.368000 24 57 0 0 0.005443 0 0 ZNF333 84449 broad.mit.edu 37 19 14826950 14826950 + Silent SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:14826950T>C ENST00000292530.6 + 9 718 c.627T>C c.(625-627)gcT>gcC p.A209A ZNF333_ENST00000540689.2_Silent_p.A209A|ZNF333_ENST00000536363.1_Silent_p.A100A NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 209 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 CAGATGTGGCTGTGGTGTTCA 0.557000 51 87 0 0 0.003610 0 0 SLC35F3 148641 broad.mit.edu 37 1 234455868 234455868 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:234455868G>A ENST00000366618.3 + 7 1317 c.1172G>A c.(1171-1173)gGa>gAa p.G391E SLC35F3_ENST00000366617.3_Missense_Mutation_p.G322E NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 322 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TTAAATTTTGGAATTGCCGTT 0.403000 12 43 0 0 0.000978 0 0 DMPK 1760 broad.mit.edu 37 19 46280717 46280717 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:46280717G>A ENST00000600757.1 - 7 1731 c.1044C>T c.(1042-1044)ttC>ttT p.F348F DMPK_ENST00000343373.4_Silent_p.F348F|DMPK_ENST00000354227.5_Silent_p.F338F|DMPK_ENST00000291270.4_Silent_p.F338F|DMPK_ENST00000447742.2_Silent_p.F338F|DMPK_ENST00000458663.2_Silent_p.F338F Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 348 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) GGCCAAAGAAGAAGGGATGTG 0.627000 15 39 0 0 0.003163 0 0 LHX4 89884 broad.mit.edu 37 1 180243418 180243418 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:180243418G>A ENST00000263726.2 + 6 1121 c.877G>A c.(877-879)Gac>Aac p.D293N RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 293 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 CTTCTCCATGGACGGGACAGG 0.527000 25 89 0 0 0.003330 0 0 TJP3 27134 broad.mit.edu 37 19 3747981 3747981 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:3747981C>T ENST00000541714.2 + 19 2974 c.2512C>T c.(2512-2514)Ccg>Tcg p.P838S TJP3_ENST00000539908.2_Missense_Mutation_p.P802S|TJP3_ENST00000262968.9_Missense_Mutation_p.P871S|TJP3_ENST00000587686.1_Missense_Mutation_p.P857S|TJP3_ENST00000382008.3_Missense_Mutation_p.P852S|TJP3_ENST00000589378.1_Missense_Mutation_p.P847S NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 852 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) TGATGAGCCCCCGGCTCCAGC 0.697000 7 10 0 0 0.004482 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079978 70079978 + Missense_Mutation SNP G G A rs142415589 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:70079978G>A ENST00000446444.1 - 1 471 c.463C>T c.(463-465)Ccc>Tcc p.P155S RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 155 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCACCACAGGGAAAAACAGCA 0.398000 13 91 0 0 0.001368 0 0 LIG3 3980 broad.mit.edu 37 17 33316660 33316660 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:33316660C>T ENST00000378526.4 + 4 1000 c.867C>T c.(865-867)ttC>ttT p.F289F LIG3_ENST00000262327.5_Silent_p.F289F NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 289 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) TCCAGGACTTCCTTCGGAAAG 0.552000 Other BER factors 34 51 0 0 0.006230 0 0 WFS1 7466 broad.mit.edu 37 4 6302781 6302781 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:6302781C>T ENST00000226760.1 + 8 1429 c.1259C>T c.(1258-1260)cCc>cTc p.P420L WFS1_ENST00000503569.1_Missense_Mutation_p.P420L NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 420 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) TTCTCCTTCCCCATCGCCAGC 0.592000 124 226 0 0 0.003610 0 0 TSPAN12 23554 broad.mit.edu 37 7 120446602 120446602 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:120446602C>T ENST00000222747.3 - 7 1220 c.e7+1 TSPAN12_ENST00000415871.1_Splice_Site NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) TATGGCCTCACCTCTTGATAA 0.393000 67 18 0 0 0.003610 0 0 FMNL2 114793 broad.mit.edu 37 2 153484972 153484972 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:153484972C>T ENST00000288670.9 + 18 2692 c.2325C>T c.(2323-2325)atC>atT p.I775I FMNL2_ENST00000475377.2_Silent_p.I150I NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 775 FH2. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding p.I775I(1) central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 TTAGTAAAATCGAGAGGCTCA 0.483000 38 96 0 0 0.007835 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227540 56227540 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:56227540C>T ENST00000341744.3 - 4 752 c.433G>A c.(433-435)Gac>Aac p.D145N PMEPA1_ENST00000265626.4_Missense_Mutation_p.D95N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.D95N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.D95N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.D110N NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 145 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGTGGCAGGTCGATCTCGTGC 0.711000 14 22 0 0 0.004990 0 0 ECT2L 345930 broad.mit.edu 37 6 139165564 139165564 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:139165564T>C ENST00000423192.1 + 6 772 c.611T>C c.(610-612)gTt>gCt p.V204A ECT2L_ENST00000541398.1_Missense_Mutation_p.V135A|ECT2L_ENST00000367682.2_Missense_Mutation_p.V204A Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 204 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TTATTCAAAGTTCGACCCCCT 0.488000 """N, Splice, Mis""" ETP ALL 15 75 0 0 0.004007 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091096 11091096 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:11091096G>A ENST00000537503.1 - 1 766 c.711C>T c.(709-711)ttC>ttT p.F237F PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_5'UTR NM_023922.1 NP_076411.1 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 237 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 CATAGAGTAGGAAGAAAGTGA 0.433000 19 20 0 0 0.007413 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528392 6528392 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:6528392G>A ENST00000377748.1 - 21 3232 c.2735C>T c.(2734-2736)cCa>cTa p.P912L PLEKHG5_ENST00000400915.3_Missense_Mutation_p.P891L|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.P835L|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.P872L|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.P835L|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.P904L|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.P835L|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.P835L|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.P914L|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.P835L|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.P835L NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 891 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CTCTGCCATTGGGCCTGGGGC 0.682000 6 17 0 0 0.001168 0 0 NLRP4 147945 broad.mit.edu 37 19 56370281 56370281 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:56370281A>T ENST00000301295.6 + 3 1944 c.1522A>T c.(1522-1524)Aat>Tat p.N508Y NLRP4_ENST00000346986.5_Missense_Mutation_p.N508Y|NLRP4_ENST00000587891.1_Missense_Mutation_p.N433Y NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 508 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGGCCTTTTAAATAAAAAGGA 0.423000 32 55 0 0 0.002836 0 0 TAF6L 10629 broad.mit.edu 37 11 62554665 62554665 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:62554665G>A ENST00000294168.3 + 11 1967 c.1766G>A c.(1765-1767)aGc>aAc p.S589N TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 589 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 TACGGGCCTAGCCCGGCCTCG 0.711000 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 8 0 0 0.004672 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75804358 75804358 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:75804358G>A ENST00000550916.1 + 2 426 c.379G>A c.(379-381)Gaa>Aaa p.E127K GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.E20K|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.E62K|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.E127K|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.E127K|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.E127K NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 127 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 CCCTGAAAATGAATTTACTGC 0.328000 22 18 0 0 0.006320 0 0 WNT11 7481 broad.mit.edu 37 11 75902750 75902750 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:75902750G>A ENST00000322563.3 - 4 872 c.748C>T c.(748-750)Cga>Tga p.R250* RP11-619A14.2_ENST00000527314.1_RNA NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 250 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 CCCATGGGTCGGTGCACTACC 0.617000 49 73 0 0 0.003610 0 0 FRMPD4 9758 broad.mit.edu 37 X 12516910 12516910 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:12516910C>T ENST00000380682.1 + 2 659 c.153C>T c.(151-153)ttC>ttT p.F51F NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 51 WW. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GAGACTACTTCATCAAGTAGG 0.488000 22 11 0 0 0.003954 0 0 SAMD9L 219285 broad.mit.edu 37 7 92765204 92765204 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:92765204A>G ENST00000318238.4 - 5 1297 c.81T>C c.(79-81)ctT>ctC p.L27L SAMD9L_ENST00000411955.1_Silent_p.L27L|SAMD9L_ENST00000437805.1_Silent_p.L27L NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 27 SAM. central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CATTAATCTTAAGGTCTTCAT 0.383000 97 40 0 0 0.003610 0 0 B3GALT4 8705 broad.mit.edu 37 6 33246190 33246190 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:33246190C>T ENST00000451237.1 + 1 1274 c.994C>T c.(994-996)Cac>Tac p.H332Y NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 332 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 GCTGACGTCCCACAGGCTGGA 0.627000 45 88 0 0 0.003610 0 0 SGOL2 151246 broad.mit.edu 37 2 201438509 201438509 + Missense_Mutation SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:201438509T>G ENST00000357799.4 + 7 3538 c.3440T>G c.(3439-3441)aTa>aGa p.I1147R NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 1147 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TCACCTAACATACAAGATTCT 0.343000 19 47 0 0 0.007413 0 0 FGF16 8823 broad.mit.edu 37 X 76711795 76711795 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:76711795C>T ENST00000439435.1 + 2 132 c.132C>T c.(130-132)tcC>tcT p.S44S O43320 FGF16_HUMAN fibroblast growth factor 16 0 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity NS(1)|breast(1)|lung(2) 4 ATGTGTTTTCCGGGAACAGTT 0.423000 35 40 0 0 0.006999 0 0 TBC1D23 55773 broad.mit.edu 37 3 100016779 100016779 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:100016779C>T ENST00000394144.4 + 9 896 c.889C>T c.(889-891)Ctc>Ttc p.L297F TBC1D23_ENST00000344949.5_Missense_Mutation_p.L297F|TBC1D23_ENST00000475134.1_Missense_Mutation_p.L160F|TBC1D23_ENST00000486274.1_3'UTR NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 297 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 TAATCACCATCTCTTTGGTAG 0.343000 15 27 0 0 0.010504 0 0 OBSCN 84033 broad.mit.edu 37 1 228482045 228482045 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:228482045C>T ENST00000570156.2 + 47 12685 c.12611C>T c.(12610-12612)gCt>gTt p.A4204V OBSCN_ENST00000359599.6_Missense_Mutation_p.A2622V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3775V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3775V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A894V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A894V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3247 Ig-like 43. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGTGGCCTGGCTGTGGTGGAT 0.617000 17 74 0 0 0.004990 0 0 CFTR 1080 broad.mit.edu 37 7 117171169 117171169 + Splice_Site SNP G G A rs78756941 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:117171169G>A ENST00000003084.6 + 4 621 c.e4+1 CFTR_ENST00000454343.1_Splice_Site NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 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) TTATAAGAAGGTAATACTTCC 0.383000 Cystic Fibrosis 19 3 0 0 0.008871 0 0 IL1RL2 8808 broad.mit.edu 37 2 102849490 102849490 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:102849490G>A ENST00000264257.2 + 10 1329 c.1203G>A c.(1201-1203)gtG>gtA p.V401V IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.V401V|IL1RL2_ENST00000441515.2_Silent_p.V283V NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 401 TIR. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 GGCATGCCGTGGATGCCCTGG 0.483000 26 58 0 0 0.005443 0 0 NBEA 26960 broad.mit.edu 37 13 35733271 35733271 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:35733271C>T ENST00000400445.3 + 22 3497 c.2963C>T c.(2962-2964)tCa>tTa p.S988L NBEA_ENST00000379939.2_Missense_Mutation_p.S988L|NBEA_ENST00000310336.4_Missense_Mutation_p.S988L|NBEA_ENST00000540320.1_Missense_Mutation_p.S988L NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 988 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCTGGTCTTTCATCACAGACA 0.423000 27 33 0 0 0.002836 0 0 TAGAP 117289 broad.mit.edu 37 6 159461762 159461762 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:159461762G>A ENST00000367066.3 - 7 911 c.580C>T c.(580-582)Ctg>Ttg p.L194L RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000338313.5_Silent_p.L194L|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Silent_p.L16L NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 194 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TACTGTTTCAGGGCCTCGATT 0.493000 20 49 0 0 0.004656 0 0 PDE1B 5153 broad.mit.edu 37 12 54967154 54967154 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:54967154C>T ENST00000243052.3 + 9 1288 c.852C>T c.(850-852)atC>atT p.I284I PDE1B_ENST00000550620.1_Silent_p.I264I|PDE1B_ENST00000538346.1_Silent_p.I243I|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 284 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 AATGTGCCATCGTGTACAATG 0.522000 27 75 0 0 0.008361 0 0 NOS1 4842 broad.mit.edu 37 12 117768658 117768658 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:117768658C>T ENST00000317775.6 - 2 902 c.217G>A c.(217-219)Gtg>Atg p.V73M NOS1_ENST00000338101.4_Missense_Mutation_p.V73M|NOS1_ENST00000344089.3_Missense_Mutation_p.V73M NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 73 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTCAGGTCCACCAAGGGCCGG 0.617000 20 12 0 0 0.007413 0 0 ITGB3BP 23421 broad.mit.edu 37 1 63920114 63920114 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:63920114G>A ENST00000371092.3 - 7 541 c.481C>T c.(481-483)Ctc>Ttc p.L161F ITGB3BP_ENST00000461681.1_5'UTR|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.L122F|ITGB3BP_ENST00000271002.10_Missense_Mutation_p.L122F NM_001206739.1 NP_001193668.1 Q13352 CENPR_HUMAN integrin beta 3 binding protein (beta3-endonexin) 122 apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm protein C-terminus binding|signal transducer activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 ATTCCAATGAGATTTTCAAGC 0.338000 10 27 0 0 0.001855 0 0 KIF26A 26153 broad.mit.edu 37 14 104641820 104641820 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:104641820C>T ENST00000315264.7 + 11 2656 c.2278C>T c.(2278-2280)Cct>Tct p.P760S KIF26A_ENST00000423312.2_Missense_Mutation_p.P899S Q9ULI4 KI26A_HUMAN kinesin family member 26A 899 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) TGCCAGCACCCCTCGAGGCAG 0.697000 5 9 0 0 0.000602 0 0 LRPPRC 10128 broad.mit.edu 37 2 44200775 44200775 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:44200775A>G ENST00000260665.7 - 11 1397 c.1340T>C c.(1339-1341)gTt>gCt p.V447A LRPPRC_ENST00000409946.1_Missense_Mutation_p.V447A|LRPPRC_ENST00000409659.1_Missense_Mutation_p.V447A NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 447 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CCGACGTCCAACTAGCAATGG 0.403000 148 313 0 0 0.003610 0 0 OR5B17 219965 broad.mit.edu 37 11 58126225 58126225 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:58126225G>A ENST00000357377.3 - 1 317 c.318C>T c.(316-318)gcC>gcT p.A106A NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTTCCACAGTGGCAAAGACTG 0.478000 15 23 0 0 0.002450 0 0 CYP2C19 1557 broad.mit.edu 37 10 96541593 96541593 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:96541593C>T ENST00000371321.3 + 5 740 c.658C>T c.(658-660)Ccc>Tcc p.P220S CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 220 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) CAATAATTTTCCCACTATCAT 0.274000 14 12 0 0 0.004990 0 0 MROH2B 133558 broad.mit.edu 37 5 41051193 41051193 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:41051193C>T ENST00000399564.4 - 13 1681 c.e13-1 MROH2B_ENST00000506092.2_Splice_Site NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CTGGTTTCTCCTTTAAGAAAG 0.433000 3 10 0 0 0.004672 0 0 GABRB1 2560 broad.mit.edu 37 4 47405379 47405379 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:47405379G>A ENST00000295454.3 + 6 881 c.589G>A c.(589-591)Gaa>Aaa p.E197K GABRB1_ENST00000538619.1_Missense_Mutation_p.E127K NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 197 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GAATGGAGGAGAAGGGGCAGT 0.378000 11 41 0 0 0.000978 0 0 CALML3 810 broad.mit.edu 37 10 5567446 5567446 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:5567446G>A ENST00000315238.1 + 1 523 c.398G>A c.(397-399)gGa>gAa p.G133E RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA NM_005185.2 NP_005176.1 P27482 CALL3_HUMAN calmodulin-like 3 133 EF-hand 4. calcium ion binding endometrium(3)|lung(2) 5 GACACGGACGGAGACGGACAG 0.672000 8 30 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9074177 9074177 + Missense_Mutation SNP A A T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9074177A>T ENST00000397910.4 - 3 13472 c.13269T>A c.(13267-13269)ttT>ttA p.F4423L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4425 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGATTGCATAAAATCTGGAG 0.493000 54 121 0 0 0.003610 0 0 TRMT2A 27037 broad.mit.edu 37 22 20102123 20102123 + Missense_Mutation SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:20102123G>C ENST00000252136.7 - 7 1595 c.1207C>G c.(1207-1209)Cgg>Ggg p.R403G TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.R403G|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R403G|TRMT2A_ENST00000439169.2_Missense_Mutation_p.R403G NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 403 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 GGAGAGATCCGGAAGGTCAGC 0.627000 31 90 0 0 0.004289 0 0 TRMT44 152992 broad.mit.edu 37 4 8469678 8469678 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:8469678C>T ENST00000389737.4 + 9 1532 c.1532C>T c.(1531-1533)tCc>tTc p.S511F TRMT44_ENST00000513449.2_Missense_Mutation_p.S270F NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) TACCCTTCCTCCAGAGAAGCT 0.507000 28 30 0 0 0.002445 0 0 SYMPK 8189 broad.mit.edu 37 19 46319823 46319823 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:46319823G>A ENST00000245934.7 - 25 3515 c.3271C>T c.(3271-3273)Cct>Tct p.P1091S SYMPK_ENST00000598155.1_5'UTR NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 1091 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) ATGGAGTTAGGGATGTGAGCT 0.667000 11 37 0 0 0.001368 0 0 TIGD6 81789 broad.mit.edu 37 5 149375197 149375197 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:149375197T>C ENST00000296736.3 - 2 1489 c.715A>G c.(715-717)Aag>Gag p.K239E TIGD6_ENST00000515406.2_Missense_Mutation_p.K239E NM_030953.3 NP_112215.1 Q17RP2 TIGD6_HUMAN tigger transposable element derived 6 239 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGAATGTTCTTGAGGCAGTGT 0.498000 14 32 0 0 0.003163 0 0 C1orf116 79098 broad.mit.edu 37 1 207195889 207195889 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:207195889C>T ENST00000359470.5 - 4 1469 c.1220G>A c.(1219-1221)gGg>gAg p.G407E C1orf116_ENST00000461135.2_Missense_Mutation_p.G161E NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 407 Ala-rich. cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) cagagccttcccagcagcagg 0.607000 21 23 0 0 0.008871 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55284790 55284790 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:55284790C>T ENST00000336077.6 + 3 116 c.76C>T c.(76-78)Cac>Tac p.H26Y CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H26Y|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 26 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CCTAGGAGTCCACAGAAAACC 0.502000 6 94 0 0 0.008871 0 0 RASGRF1 5923 broad.mit.edu 37 15 79298727 79298727 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:79298727T>A ENST00000419573.3 - 15 2189 c.1915A>T c.(1915-1917)Acc>Tcc p.T639S RASGRF1_ENST00000558480.2_Missense_Mutation_p.T626S|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 639 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GAGTTCATGGTTTTGCTGAAG 0.542000 24 105 0 0 0.003954 0 0 TNS3 64759 broad.mit.edu 37 7 47454705 47454705 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:47454705G>A ENST00000398879.1 - 11 939 c.573C>T c.(571-573)ttC>ttT p.F191F TNS3_ENST00000442536.2_Silent_p.F191F|TNS3_ENST00000458317.2_Silent_p.F191F|TNS3_ENST00000355730.3_Silent_p.F191F|TNS3_ENST00000311160.9_Silent_p.F191F Q68CZ2 TENS3_HUMAN tensin 3 191 C2 tensin-type. focal adhesion protein binding p.F191fs*10(2) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CACCTGTGTCGAAGTTGGGGG 0.572000 14 16 0 0 0.002450 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986304 51986304 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:51986304C>T ENST00000396477.4 + 4 728 c.707C>T c.(706-708)cCt>cTt p.P236L CEACAM18_ENST00000451626.1_Missense_Mutation_p.P297L NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 297 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGGAGCAATCCTGATGATTTC 0.537000 64 132 0 0 0.003610 0 0 DKK2 27123 broad.mit.edu 37 4 107845144 107845144 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:107845144G>A ENST00000285311.3 - 4 1452 c.747C>T c.(745-747)tcC>tcT p.S249S DKK2_ENST00000513208.1_Silent_p.S149S|DKK2_ENST00000510463.1_Silent_p.S203S NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 249 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GTCTGGCTTTGGAGGAGTAGG 0.448000 33 62 0 0 0.004289 0 0 RGS12 6002 broad.mit.edu 37 4 3319336 3319336 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:3319336C>T ENST00000336727.3 + 2 2343 c.1439C>T c.(1438-1440)cCc>cTc p.P480L RGS12_ENST00000344733.5_Missense_Mutation_p.P480L|RGS12_ENST00000543385.1_Missense_Mutation_p.P480L|RGS12_ENST00000382788.3_Missense_Mutation_p.P480L NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 480 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGTCCGGACCCCGAAGGGAGC 0.682000 18 43 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179605026 179605026 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179605026C>T ENST00000589042.1 - 48 13158 c.12934G>A c.(12934-12936)Gaa>Aaa p.E4312K TTN_ENST00000359218.5_Missense_Mutation_p.E4074K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3949K|TTN_ENST00000342175.6_Missense_Mutation_p.E4141K|TTN_ENST00000591111.1_Missense_Mutation_p.E3995K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3995 Ig-like 23. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E3949K(1)|p.E4141K(1)|p.E4074K(1) 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) CCTGCATTTTCCAGTGGATTT 0.433000 27 54 0 0 0.004656 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33631448 33631448 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:33631448G>A ENST00000321505.4 + 14 4504 c.4324G>A c.(4324-4326)Gaa>Aaa p.E1442K KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1448K KIAA1549-like AGCCCCGAAGGAAATGGAGCA 0.478000 19 50 0 0 0.010504 0 0 ANGPT4 51378 broad.mit.edu 37 20 896816 896816 + Silent SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:896816A>C ENST00000381922.3 - 1 144 c.42T>G c.(40-42)ctT>ctG p.L14L ANGPT4_ENST00000546022.1_Silent_p.L14L NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 14 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 TGGCAACCACAAGGAGGAGGC 0.592000 21 34 0 0 0.002299 0 0 HEATR5B 54497 broad.mit.edu 37 2 37265141 37265141 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:37265141G>A ENST00000233099.5 - 21 3168 c.3073C>T c.(3073-3075)Cgt>Tgt p.R1025C HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1025C NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1025 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) CAAGAGGAACGAATTGTAGAA 0.363000 21 17 0 0 0.008361 0 0 TMC7 79905 broad.mit.edu 37 16 19067872 19067872 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:19067872C>T ENST00000421369.3 + 14 2108 c.1550C>T c.(1549-1551)tCc>tTc p.S517F TMC7_ENST00000304381.5_Missense_Mutation_p.S627F|TMC7_ENST00000569532.1_Missense_Mutation_p.S627F NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 627 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 AGCATCCCTTCCTCGAAAGCC 0.572000 25 28 0 0 0.004656 0 0 XIRP1 165904 broad.mit.edu 37 3 39230591 39230591 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:39230591C>T ENST00000340369.3 - 2 574 c.346G>A c.(346-348)Gag>Aag p.E116K XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E116K NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 116 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGCACGGGCTCCTTGGCAGCT 0.607000 27 56 0 0 0.007291 0 0 FCRL5 83416 broad.mit.edu 37 1 157490960 157490960 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:157490960G>A ENST00000361835.3 - 11 2519 c.2362C>T c.(2362-2364)Cat>Tat p.H788Y FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.H788Y NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 788 Ig-like C2-type 8. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ACATCCTCATGAAAAAACCGG 0.592000 10 86 0 0 0.008291 0 0 LOC401127 401127 broad.mit.edu 37 4 39483090 39483090 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:39483090C>T ENST00000513652.1 + 0 1097 CTGTTAAGTCCCTTTGCTCCC 0.507000 3 21 0 0 0.004672 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939610 12939610 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:12939610C>T ENST00000235349.5 - 4 1262 c.1192G>A c.(1192-1194)Gag>Aag p.E398K NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 398 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGCAGGTTCTCCAGGGTGGCC 0.542000 93 215 0 0 0.003610 0 0 SYNE1 23345 broad.mit.edu 37 6 152646420 152646420 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:152646420A>G ENST00000367255.5 - 81 16057 c.15456T>C c.(15454-15456)gtT>gtC p.V5152V SYNE1_ENST00000423061.1_Silent_p.V5081V|SYNE1_ENST00000341594.5_Silent_p.V4845V|SYNE1_ENST00000265368.4_Silent_p.V5152V|SYNE1_ENST00000448038.1_Silent_p.V5081V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5152 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGAAAGAGTTAACCACTGACA 0.443000 HNSCC(10;0.0054) 42 82 0 0 0.006230 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185837 127185837 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:127185837C>T ENST00000371124.3 - 1 545 c.349G>A c.(349-351)Gaa>Aaa p.E117K NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 117 cytoplasm|cytoskeleton p.E117K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TCTCGAATTTCCCTAGGATTC 0.488000 105 52 0 0 0.003610 0 0 RMDN3 55177 broad.mit.edu 37 15 41044186 41044186 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:41044186G>A ENST00000260385.6 - 2 1445 c.378C>T c.(376-378)gtC>gtT p.V126V RMDN3_ENST00000338376.3_Silent_p.V126V|RMDN3_ENST00000558560.1_5'UTR regulator of microtubule dynamics 3 TTACTCACCGGACCTCCCCAA 0.592000 17 36 0 0 0.004990 0 0 TRAT1 50852 broad.mit.edu 37 3 108568052 108568052 + Missense_Mutation SNP G G A rs138442609 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:108568052G>A ENST00000295756.6 + 5 484 c.254G>A c.(253-255)cGa>cAa p.R85Q TRAT1_ENST00000426646.1_Missense_Mutation_p.R48Q NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 85 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ATGAAAGCCCGACCAGAGAAA 0.343000 15 49 0 0 0.010504 0 0 ZNF619 285267 broad.mit.edu 37 3 40523356 40523356 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:40523356C>T ENST00000447116.2 + 3 334 c.27C>T c.(25-27)ggC>ggT p.G9G ZNF619_ENST00000521353.1_Silent_p.G9G|ZNF619_ENST00000429348.2_Silent_p.G9G|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000432264.2_Silent_p.G9G|ZNF619_ENST00000314686.5_5'UTR|ZNF619_ENST00000520737.1_Intron NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 9 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TTGTGCAGGGCTTGGGCAGGA 0.532000 33 58 0 0 0.009535 0 0 USP21 27005 broad.mit.edu 37 1 161133953 161133953 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:161133953G>A ENST00000368002.3 + 10 1595 c.e10-1 USP21_ENST00000368001.1_Splice_Site|USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Splice_Site NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TTTTCCCCCAGAAAGGATTTG 0.478000 10 48 0 0 0.006214 0 0 FREM2 341640 broad.mit.edu 37 13 39454855 39454855 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:39454855G>A ENST00000280481.7 + 24 9657 c.9441G>A c.(9439-9441)ccG>ccA p.P3147P NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 3147 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGGATGCCCCGAAAGGCTCCA 0.547000 15 18 0 0 0.003163 0 0 F2RL1 2150 broad.mit.edu 37 5 76128722 76128722 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:76128722T>A ENST00000296677.4 + 2 496 c.290T>A c.(289-291)cTg>cAg p.L97Q NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 97 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) GGCATGGCCCTGTGGGTCTTT 0.488000 195 444 0 0 0.003610 0 0 BPIFB6 128859 broad.mit.edu 37 20 31624250 31624250 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:31624250G>A ENST00000349552.1 + 7 577 c.e7-1 NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 extracellular region lipid binding TTTTCACACAGACCCCATGCC 0.587000 37 114 0 0 0.008740 0 0 ATP2B4 493 broad.mit.edu 37 1 203676226 203676226 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:203676226G>A ENST00000357681.5 + 9 2312 c.1189G>A c.(1189-1191)Gag>Aag p.E397K ATP2B4_ENST00000341360.2_Missense_Mutation_p.E397K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E397K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E385K|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E397K NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 397 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) ATGGCTCCCTGAGTGTACTCC 0.493000 6 47 0 0 0.001168 0 0 PPFIA2 8499 broad.mit.edu 37 12 81657127 81657127 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:81657127G>A ENST00000550584.2 - 30 3893 c.3598C>T c.(3598-3600)Cag>Tag p.Q1200* PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.Q1179*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.Q386*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.Q1200*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.Q1047*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.Q1099*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.Q1194*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.Q736*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.Q1185*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.Q1095*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.Q1188* NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 1099 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GGAGGAAACTGCCTTCTCCAG 0.448000 11 19 0 0 0.001368 0 0 GLRA1 2741 broad.mit.edu 37 5 151234728 151234728 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:151234728C>T ENST00000274576.4 - 6 862 c.570G>A c.(568-570)acG>acA p.T190T GLRA1_ENST00000455880.2_Silent_p.T190T|GLRA1_ENST00000545569.1_Silent_p.T107T|GLRA1_ENST00000471351.2_5'UTR NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 190 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGTCATTCATCGTATATCCAA 0.483000 37 53 0 0 0.004878 0 0 CHST10 9486 broad.mit.edu 37 2 101010058 101010058 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:101010058G>A ENST00000264249.3 - 7 1105 c.720C>T c.(718-720)ttC>ttT p.F240F CHST10_ENST00000409701.1_Silent_p.F240F|CHST10_ENST00000542617.1_Silent_p.F288F NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 240 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 GGTAGCGCACGAAATCTTCAA 0.542000 57 138 0 0 0.003610 0 0 GCM1 8521 broad.mit.edu 37 6 53010427 53010427 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:53010427C>T ENST00000259803.7 - 2 215 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 2 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) TCGTCAGGTTCCATGATAAGG 0.413000 24 49 0 0 0.003330 0 0 HMCN1 83872 broad.mit.edu 37 1 186086707 186086707 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:186086707G>A ENST00000271588.4 + 77 12029 c.11800G>A c.(11800-11802)Ggt>Agt p.G3934S HMCN1_ENST00000367492.2_Missense_Mutation_p.G3934S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3934 Ig-like C2-type 38. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GACCAAAAATGGTATAAGACT 0.423000 19 67 0 0 0.010504 0 0 LOC101926911 101926911 broad.mit.edu 37 15 91578389 91578389 + RNA SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr15:91578389C>T ENST00000557804.1 + 0 707 CATCTTCCTTCCACGTCCCTC 0.577000 6 29 0 0 0.001984 0 0 RIC3 79608 broad.mit.edu 37 11 8132361 8132361 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:8132361C>T ENST00000396677.2 - 3 507 c.508G>A c.(508-510)Gaa>Aaa p.E170K RIC3_ENST00000343202.4_Missense_Mutation_p.E331K|RIC3_ENST00000335425.7_Missense_Mutation_p.E150K|RIC3_ENST00000425599.2_Missense_Mutation_p.E251K|RIC3_ENST00000539720.1_Missense_Mutation_p.E283K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.E332K Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 332 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TTGGTGGTTTCCTCTTGCTCA 0.483000 39 80 0 0 0.006230 0 0 GPC3 2719 broad.mit.edu 37 X 132826495 132826495 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:132826495G>A ENST00000370818.3 - 5 1639 c.1194C>T c.(1192-1194)ttC>ttT p.F398F GPC3_ENST00000394299.2_Silent_p.F421F|GPC3_ENST00000543339.1_Silent_p.F344F NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 398 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) AGAAGCTGATGAAAGACTTCA 0.418000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 18 17 0 0 0.001882 0 0 CHD5 26038 broad.mit.edu 37 1 6204202 6204202 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:6204202C>T ENST00000262450.3 - 12 1915 c.1816G>A c.(1816-1818)Ggg>Agg p.G606R CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 606 Chromo 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TGCACATCCCCCTTCTTGTCA 0.552000 30 68 0 0 0.002096 0 0 KLHL1 57626 broad.mit.edu 37 13 70371006 70371006 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr13:70371006C>T ENST00000377844.4 - 7 2262 c.1503G>A c.(1501-1503)gtG>gtA p.V501V KLHL1_ENST00000545028.1_Silent_p.V308V NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 501 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CAATAACAGCCACACCAAACT 0.408000 17 96 0 0 0.004990 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585331 70585331 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:70585331C>T ENST00000260126.3 - 10 3026 c.2320G>A c.(2320-2322)Gaa>Aaa p.E774K SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.E719K NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 774 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) AGGGGAAATTCTCTCTGCCTC 0.517000 35 67 0 0 0.006230 0 0 ZBP1 81030 broad.mit.edu 37 20 56191419 56191419 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:56191419T>C ENST00000340462.4 - 2 420 c.140A>G c.(139-141)cAa>cGa p.Q47R ZBP1_ENST00000343535.4_Missense_Mutation_p.Q47R|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000371173.3_Missense_Mutation_p.Q47R|ZBP1_ENST00000541799.1_Missense_Mutation_p.Q47R|ZBP1_ENST00000538947.1_5'UTR Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 47 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GTAGAGGACTTGGTTGAGCTC 0.567000 65 95 0 0 0.003610 0 0 SEC24A 10802 broad.mit.edu 37 5 134059340 134059340 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:134059340C>T ENST00000398844.2 + 22 3435 c.3147C>T c.(3145-3147)ttC>ttT p.F1049F NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 1049 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACCATTTTTCCCAATACTTT 0.368000 18 58 0 0 0.010504 0 0 XYLT1 64131 broad.mit.edu 37 16 17221565 17221565 + Silent SNP G G A rs112238716 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:17221565G>A ENST00000261381.6 - 10 2265 c.2181C>T c.(2179-2181)atC>atT p.I727I NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 727 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GTGGGCTTGCGATCTTGAAGA 0.493000 69 64 0 0 0.003610 0 0 OBSCN 84033 broad.mit.edu 37 1 228451840 228451840 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:228451840G>A ENST00000570156.2 + 18 5235 c.5161G>A c.(5161-5163)Gag>Aag p.E1721K OBSCN_ENST00000422127.1_Missense_Mutation_p.E1537K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E193K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1537K|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 707 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTTTGCCAAGGAGCAGCCAGC 0.652000 7 28 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9057040 9057040 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:9057040G>A ENST00000397910.4 - 3 30609 c.30406C>T c.(30406-30408)Ccc>Tcc p.P10136S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10138 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGAAGAGGGAGTACCCACT 0.468000 16 33 0 0 0.006122 0 0 LILRB1 10859 broad.mit.edu 37 19 55147030 55147030 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:55147030G>A ENST00000396331.1 + 14 1977 c.1620G>A c.(1618-1620)caG>caA p.Q540Q LILRB1_ENST00000324602.7_Silent_p.Q541Q|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.Q524Q|LILRB1_ENST00000396332.4_Silent_p.Q540Q|LILRB1_ENST00000396327.3_Silent_p.Q541Q|LILRB1_ENST00000427581.2_Silent_p.Q590Q|LILRB1_ENST00000396321.2_Silent_p.Q540Q|LILRB1_ENST00000396317.1_Silent_p.Q524Q|LILRB1_ENST00000434867.2_Silent_p.Q540Q|LILRB1_ENST00000396315.1_Silent_p.Q541Q NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 540 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AGCACACACAGCCTGAGGATG 0.607000 HNSCC(37;0.09) 42 94 0 0 0.003610 0 0 HECW1 23072 broad.mit.edu 37 7 43483832 43483832 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:43483832C>T ENST00000395891.1 + 11 1666 c.1061C>T c.(1060-1062)tCc>tTc p.S354F HECW1_ENST00000453890.1_Missense_Mutation_p.S354F NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 354 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GAGGAGATTTCCCTGAGTACC 0.507000 19 46 0 0 0.001882 0 0 OR14C36 127066 broad.mit.edu 37 1 248512753 248512753 + Missense_Mutation SNP T T A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:248512753T>A ENST00000317861.1 + 1 677 c.677T>A c.(676-678)tTt>tAt p.F226Y NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GTGCTCGGGTTTCCAAGAGGA 0.498000 13 71 0 0 0.001855 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401009 11401009 + Silent SNP G G A rs139094851 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:11401009G>A ENST00000002596.5 - 2 1795 c.621C>T c.(619-621)ttC>ttT p.F207F NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 207 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity p.F207F(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GGCGCAGCGGGAAAAAGCGCA 0.597000 15 19 0 0 0.003163 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20132822 20132822 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr22:20132822C>T ENST00000334554.7 + 11 2338 c.2197C>T c.(2197-2199)Cct>Tct p.P733S ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P641S|ZDHHC8_ENST00000405930.3_Intron NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 733 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) CCGGCTGGGACCTGCCACCGG 0.637000 44 61 0 0 0.002522 0 0 FMN2 56776 broad.mit.edu 37 1 240492391 240492391 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:240492391G>A ENST00000319653.9 + 9 4461 c.4231G>A c.(4231-4233)Gaa>Aaa p.E1411K FMN2_ENST00000545751.1_Missense_Mutation_p.E7K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1411 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.E1554K(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACAGTCAGACGAACTCGAAAA 0.363000 15 33 0 0 0.002450 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938863 2938863 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:2938863C>T ENST00000378404.2 + 1 818 c.613C>T c.(613-615)Ccc>Tcc p.P205S NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 205 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCACACCTTCCCCTGCCAGCT 0.642000 14 54 0 0 0.002450 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765522 18765522 + Splice_Site SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:18765522C>T ENST00000304081.4 - 5 824 c.e5-1 NT5C1B-RDH14_ENST00000532967.1_Splice_Site|NT5C1B_ENST00000359846.2_Splice_Site|NT5C1B_ENST00000600945.1_Splice_Site NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TGGGTTTGGGCTGCAGAGAGG 0.577000 27 65 0 0 0.005443 0 0 OR8U1 219417 broad.mit.edu 37 11 56143630 56143630 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:56143630C>T ENST00000302270.1 + 1 531 c.531C>T c.(529-531)ttC>ttT p.F177F NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) TCAACCATTTCTATTGTGATG 0.463000 24 228 0 0 0.008361 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409093 56409093 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:56409093C>T ENST00000544374.1 - 1 854 c.826G>A c.(826-828)Gag>Aag p.E276K OR5AP2_ENST00000302981.1_Missense_Mutation_p.E275K Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 TTGTCTTGCTCCATTGAGTAG 0.408000 23 48 0 0 0.002780 0 0 MYH6 4624 broad.mit.edu 37 14 23853878 23853878 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr14:23853878G>A ENST00000405093.3 - 36 5408 c.5338C>T c.(5338-5340)Cac>Tac p.H1780Y MYH6_ENST00000356287.3_Missense_Mutation_p.H1780Y NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1780 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CGCTCCAGGTGGGCGCTGGTG 0.622000 23 74 0 0 0.005443 0 0 IPCEF1 26034 broad.mit.edu 37 6 154520941 154520941 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:154520941C>T ENST00000265198.4 - 10 923 c.768G>A c.(766-768)aaG>aaA p.K256K OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Silent_p.K257K|IPCEF1_ENST00000422970.2_Silent_p.K257K|IPCEF1_ENST00000519344.1_Silent_p.K228K|IPCEF1_ENST00000519091.1_5'UTR NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 TTTCCAGGGCCTTGTGGATGC 0.423000 25 74 0 0 0.004656 0 0 TRPM4 54795 broad.mit.edu 37 19 49671177 49671177 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:49671177C>T ENST00000252826.5 + 4 397 c.271C>T c.(271-273)Ctc>Ttc p.L91F TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.L91F NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 91 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TCCACAGTTCCTCCGGCTCTC 0.632000 53 89 0 0 0.003610 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47423263 47423263 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:47423263C>T ENST00000404338.3 + 1 1331 c.1331C>T c.(1330-1332)cCt>cTt p.P444L NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 444 FF 3. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GAGACTTCTCCTTTCATAACT 0.453000 18 32 0 0 0.006122 0 0 OPRK1 4986 broad.mit.edu 37 8 54141918 54141918 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:54141918C>T ENST00000265572.3 - 4 1379 c.1082G>A c.(1081-1083)cGa>cAa p.R361Q OPRK1_ENST00000520287.1_Missense_Mutation_p.R361Q|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R272Q NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 361 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.R361Q(1) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AACTGTATTTCGGACTCTGCT 0.478000 19 48 0 0 0.008871 0 0 DNAH5 1767 broad.mit.edu 37 5 13923469 13923469 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:13923469C>T ENST00000265104.4 - 4 462 c.358G>A c.(358-360)Gat>Aat p.D120N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 120 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D120N(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGAGCCACATCGTTTCCCTCG 0.458000 Kartagener syndrome 44 111 0 0 0.007835 0 0 LDHA 3939 broad.mit.edu 37 11 18424479 18424479 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:18424479C>T ENST00000422447.3 + 5 784 c.511C>T c.(511-513)Cgt>Tgt p.R171C LDHA_ENST00000227157.4_Missense_Mutation_p.R171C|LDHA_ENST00000396222.2_Missense_Mutation_p.R171C|LDHA_ENST00000540430.1_Missense_Mutation_p.R200C|LDHA_ENST00000379412.5_Missense_Mutation_p.R171C|LDHA_ENST00000430553.2_Missense_Mutation_p.R113C|LDHA_ENST00000542179.1_Missense_Mutation_p.R171C NM_001135239.1|NM_005566.3 NP_001128711.1|NP_005557.1 P00338 LDHA_HUMAN lactate dehydrogenase A 171 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4) 12 NADH(DB00157) AGCCCGATTCCGTTACCTAAT 0.463000 19 50 0 0 0.001882 0 0 GLYATL2 219970 broad.mit.edu 37 11 58601949 58601949 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:58601949G>A ENST00000287275.1 - 6 1228 c.838C>T c.(838-840)Cct>Tct p.P280S GLYATL2_ENST00000532258.1_Missense_Mutation_p.P280S NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 280 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) CAGCCACAAGGACAAATCTTA 0.353000 16 36 0 0 0.004007 0 0 IFLTD1 160492 broad.mit.edu 37 12 25702317 25702317 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:25702317C>T ENST00000282881.6 - 2 339 c.190G>A c.(190-192)Gga>Aga p.G64R IFLTD1_ENST00000413632.2_Missense_Mutation_p.G85R|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Missense_Mutation_p.G85R NM_152590.3 NP_689803.2 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 64 intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) GTCAATTGTCCAGTTGTTGAT 0.388000 25 26 0 0 0.003954 0 0 CYFIP2 26999 broad.mit.edu 37 5 156768097 156768097 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:156768097C>T ENST00000347377.6 + 23 3036 c.2605C>T c.(2605-2607)Cct>Tct p.P869S CYFIP2_ENST00000521420.1_Missense_Mutation_p.P843S|CYFIP2_ENST00000442283.2_Splice_Site_p.S153_splice|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P794S|CYFIP2_ENST00000522463.1_Missense_Mutation_p.P673S|CYFIP2_ENST00000318218.6_Missense_Mutation_p.P894S|CYFIP2_ENST00000435847.2_Missense_Mutation_p.P568S|CYFIP2_ENST00000377576.3_Missense_Mutation_p.P869S NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 894 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACTGCCATTCCTTTCACCCA 0.463000 148 349 0 0 0.003610 0 0 SMARCC2 6601 broad.mit.edu 37 12 56559111 56559111 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:56559111C>T ENST00000394023.3 - 27 3328 c.3223G>A c.(3223-3225)Gga>Aga p.G1075R SMARCC2_ENST00000550164.1_Missense_Mutation_p.G1075R|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.G1044R|SMARCC2_ENST00000347471.4_Missense_Mutation_p.G1075R NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1044 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CCATGGGGTCCAGGGGGGGGA 0.577000 40 70 0 0 0.003610 0 0 PLCL1 5334 broad.mit.edu 37 2 198949057 198949057 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:198949057C>T ENST00000428675.1 + 2 1214 c.816C>T c.(814-816)aaC>aaT p.N272N PLCL1_ENST00000437704.2_Silent_p.N174N NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 272 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) AACAACTCAACCCTACTCTGA 0.418000 27 66 0 0 0.006320 0 0 RIMS3 9783 broad.mit.edu 37 1 41092339 41092339 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:41092339G>A ENST00000372684.3 - 8 1246 c.777C>T c.(775-777)atC>atT p.I259I RIMS3_ENST00000372683.1_Silent_p.I259I NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 259 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) CGTCCAGCATGATCTGGGCCA 0.627000 15 25 0 0 0.007413 0 0 KIFC2 90990 broad.mit.edu 37 8 145697783 145697783 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:145697783G>A ENST00000301332.2 + 15 2024 c.1647G>A c.(1645-1647)gtG>gtA p.V549V KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Intron NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 549 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCCTGGCCGTGAGGCAGGGCC 0.657000 11 29 0 0 0.001368 0 0 KIAA1377 57562 broad.mit.edu 37 11 101857743 101857743 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:101857743C>T ENST00000263468.8 + 9 3485 c.3215C>T c.(3214-3216)tCc>tTc p.S1072F KIAA1377_ENST00000537689.1_Missense_Mutation_p.S873F NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 1072 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) ATCCTAGAGTCCCTTAATGAT 0.303000 6 33 0 0 0.003080 0 0 PTPRK 5796 broad.mit.edu 37 6 128643228 128643228 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:128643228G>A ENST00000368227.3 - 3 817 c.451C>T c.(451-453)Cgg>Tgg p.R151W PTPRK_ENST00000368207.3_Missense_Mutation_p.R151W|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.R151W|PTPRK_ENST00000525459.1_Missense_Mutation_p.R151W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R151W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R151W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R151W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R151W Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 151 MAM. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AGCTCAGCCCGAAGCCAATCT 0.423000 19 54 0 0 0.006122 0 0 CCDC108 255101 broad.mit.edu 37 2 219871215 219871215 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:219871215G>T ENST00000341552.5 - 30 4774 c.4691C>A c.(4690-4692)aCa>aAa p.T1564K CCDC108_ENST00000441968.1_Missense_Mutation_p.T1564K|CCDC108_ENST00000453220.1_Missense_Mutation_p.T1564K|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1564 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCACAGGCTGTGCAGCATGT 0.567000 53 107 4.88506e-25 5.67693e-25 0.003610 1 0 NPC1 4864 broad.mit.edu 37 18 21116700 21116700 + Missense_Mutation SNP A A G rs80358259 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:21116700A>G ENST00000269228.5 - 21 3736 c.3182T>C c.(3181-3183)aTa>aCa p.I1061T NPC1_ENST00000412552.2_Missense_Mutation_p.I743T NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 1061 I -> T (in NPC1; late infantile form). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATTACTGGCTATAAGTCGGGC 0.522000 13 17 0 0 0.002450 0 0 DERL2 51009 broad.mit.edu 37 17 5383831 5383831 + Silent SNP G G A rs148853119 by1000genomes TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr17:5383831G>A ENST00000158771.4 - 5 454 c.399C>T c.(397-399)agC>agT p.S133S DERL2_ENST00000570848.1_Intron|DERL2_ENST00000572834.1_Intron NM_016041.3 NP_057125.2 Q9GZP9 DERL2_HUMAN derlin 2 133 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane protein binding large_intestine(3) 3 GGTTCCTTCGGCTCCACACAT 0.483000 28 133 0 0 0.008361 0 0 INTU 27152 broad.mit.edu 37 4 128632131 128632131 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:128632131C>T ENST00000335251.5 + 14 2536 c.2433C>T c.(2431-2433)atC>atT p.I811I NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 811 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TGCAAGGAATCTTTATTACTC 0.398000 17 47 0 0 0.001882 0 0 HAUS1 115106 broad.mit.edu 37 18 43702488 43702488 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr18:43702488C>T ENST00000282058.6 + 5 612 c.532C>T c.(532-534)Cgt>Tgt p.R178C HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_3'UTR NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 178 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 AGTTGATAATCGTCGTCAGAA 0.378000 23 28 0 0 0.002780 0 0 RHOH 399 broad.mit.edu 37 4 40245307 40245307 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:40245307G>A ENST00000381799.4 + 3 1025 c.301G>A c.(301-303)Gaa>Aaa p.E101K RHOH_ENST00000505618.1_Missense_Mutation_p.E101K NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 101 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 GTGGATTGGTGAAATTAGGAG 0.577000 9 38 0 0 0.008291 0 0 PRKCD 5580 broad.mit.edu 37 3 53213622 53213622 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:53213622C>T ENST00000394729.2 + 3 473 c.145C>T c.(145-147)Ccg>Tcg p.P49S PRKCD_ENST00000330452.3_Missense_Mutation_p.P49S NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 49 C2. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GCAGAAGAAGCCGACCATGTA 0.592000 7 24 0 0 0.003080 0 0 PLCG2 5336 broad.mit.edu 37 16 81944272 81944272 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:81944272C>T ENST00000359376.3 + 18 2095 c.1881C>T c.(1879-1881)ttC>ttT p.F627F NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 627 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GCGCCGAGTTCGAGCTGCGGC 0.632000 52 56 0 0 0.003610 0 0 GABRA4 2557 broad.mit.edu 37 4 46930291 46930291 + Missense_Mutation SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:46930291A>G ENST00000264318.3 - 9 2598 c.1616T>C c.(1615-1617)gTt>gCt p.V539A NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 539 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TAAATAAACAACCCAATAAAC 0.368000 14 57 0 0 0.003163 0 0 ASTN1 460 broad.mit.edu 37 1 176926840 176926840 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:176926840G>A ENST00000367654.2 - 11 1898 c.1885C>T c.(1885-1887)Cgc>Tgc p.R629C ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C|ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C O14525 ASTN1_HUMAN astrotactin 1 629 EGF-like 2. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCCAGCTTGCGATCTGAAATA 0.537000 17 41 0 0 0.008871 0 0 DNAH8 1769 broad.mit.edu 37 6 38877410 38877410 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:38877410C>T ENST00000359357.3 + 63 9233 c.8979C>T c.(8977-8979)ttC>ttT p.F2993F DNAH8_ENST00000449981.2_Silent_p.F3210F|DNAH8_ENST00000441566.1_Silent_p.F2957F 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 CCTCCTACTTCCTTTCAGACT 0.448000 23 59 0 0 0.002780 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462659 50462659 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:50462659T>C ENST00000447370.2 - 5 1105 c.1015A>G c.(1015-1017)Agg>Ggg p.R339G SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R339G NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 339 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GAGCCAAGCCTGTTCTCCGCT 0.672000 30 70 0 0 0.002445 0 0 PTPN6 5777 broad.mit.edu 37 12 7069123 7069123 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:7069123C>T ENST00000456013.1 + 12 1637 c.1395C>T c.(1393-1395)gtC>gtT p.V465V PTPN6_ENST00000447931.2_Silent_p.V426V|PTPN6_ENST00000399448.1_Silent_p.V467V|PTPN6_ENST00000318974.9_Silent_p.V465V|PTPN6_ENST00000539029.1_3'UTR NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 465 Tyrosine-protein phosphatase. 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 CCATCATTGTCATCGACATGC 0.667000 38 116 0 0 0.002522 0 0 PGD 5226 broad.mit.edu 37 1 10460543 10460543 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:10460543G>A ENST00000538557.1 + 3 383 c.139G>A c.(139-141)Gag>Aag p.E47K PGD_ENST00000270776.8_Missense_Mutation_p.E60K|PGD_ENST00000541529.1_Missense_Mutation_p.E60K P52209 6PGD_HUMAN phosphogluconate dehydrogenase 60 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GTCCCTGAAAGAGATGGTCTC 0.512000 35 56 0 0 0.003755 0 0 LPAR4 2846 broad.mit.edu 37 X 78010978 78010978 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:78010978C>T ENST00000435339.2 + 2 1017 c.612C>T c.(610-612)atC>atT p.I204I LPAR4_ENST00000373301.2_Silent_p.I204I NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 204 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TATCCAAGATCACAATATTTA 0.408000 19 10 0 0 0.008871 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764688 92764688 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr7:92764688G>A ENST00000318238.4 - 5 1813 c.597C>T c.(595-597)ttC>ttT p.F199F SAMD9L_ENST00000411955.1_Silent_p.F199F|SAMD9L_ENST00000437805.1_Silent_p.F199F NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 199 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TGAGAGCTTTGAACTCATGTA 0.403000 71 90 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179426315 179426315 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:179426315C>T ENST00000589042.1 - 326 84768 c.84544G>A c.(84544-84546)Gga>Aga p.G28182R TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19242R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G25614R|TTN_ENST00000460472.2_Missense_Mutation_p.G19117R|TTN_ENST00000342175.6_Missense_Mutation_p.G19309R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26541R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26541 Fibronectin type-III 105. 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) CGACTTCCTCCATCATTAACT 0.413000 8 35 0 0 0.003080 0 0 RBM47 54502 broad.mit.edu 37 4 40440230 40440230 + Silent SNP G G C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:40440230G>C ENST00000319592.4 - 4 1390 c.681C>G c.(679-681)gcC>gcG p.A227A RBM47_ENST00000514014.1_Silent_p.A189A|RBM47_ENST00000295971.7_Silent_p.A227A|RBM47_ENST00000381793.2_Silent_p.A227A|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.A227A A0AV96 RBM47_HUMAN RNA binding motif protein 47 227 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CCCAGTCCACGGCGATCTGGT 0.647000 15 38 0 0 0.006122 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984495 140984495 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:140984495G>A ENST00000544766.1 + 5 584 c.57G>A c.(55-57)ccG>ccA p.P19P MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Silent_p.P19P|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000536088.1_Silent_p.P19P NM_177456.2 NP_803251.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 0 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TCCAGAACCCGAGTGTGACAG 0.517000 29 25 0 0 0.003271 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735856 55735856 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:55735856C>T ENST00000312345.2 - 1 134 c.84G>A c.(82-84)atG>atA p.M28I NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) ACATCAGGATCATCAAATACA 0.333000 27 40 0 0 0.004656 0 0 GPR98 84059 broad.mit.edu 37 5 89979680 89979680 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr5:89979680T>C ENST00000405460.2 + 28 6038 c.5942T>C c.(5941-5943)tTt>tCt p.F1981S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1981 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) ATATTCATTTTTTCTGAGAAA 0.403000 12 19 0 0 0.000978 0 0 TET2 54790 broad.mit.edu 37 4 106155143 106155143 + Missense_Mutation SNP G G T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr4:106155143G>T ENST00000540549.1 + 3 904 c.44G>T c.(43-45)aGt>aTt p.S15I TET2_ENST00000380013.4_Missense_Mutation_p.S15I|TET2_ENST00000413648.2_Missense_Mutation_p.S15I|TET2_ENST00000305737.2_Missense_Mutation_p.S15I|TET2_ENST00000394764.1_Missense_Mutation_p.S15I|TET2_ENST00000513237.1_Missense_Mutation_p.S36I|TET2_ENST00000545826.1_Missense_Mutation_p.S15I Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 15 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) AACAGACTAAGTCCATTCCTG 0.502000 """Mis N, F""" MDS 8 29 0.00307968 0.00352989 0.003080 1 0 C9orf135 138255 broad.mit.edu 37 9 72520888 72520888 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:72520888G>A ENST00000377197.3 + 6 613 c.526G>A c.(526-528)Gat>Aat p.D176N C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.M156I NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 176 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 CTGTCAAGATGATTATTCCAT 0.328000 26 18 0 0 0.008361 0 0 TEX101 83639 broad.mit.edu 37 19 43922487 43922487 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:43922487C>T ENST00000602198.1 + 8 1184 c.742C>T c.(742-744)Cct>Tct p.P248S TEX101_ENST00000253435.7_Missense_Mutation_p.P248S|TEX101_ENST00000598265.1_Missense_Mutation_p.P230S|TEX101_ENST00000601707.1_3'UTR NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 230 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) TCTTCCCATTCCTGTTTGGGG 0.498000 42 93 0 0 0.003610 0 0 PGK2 5232 broad.mit.edu 37 6 49754071 49754071 + Missense_Mutation SNP C C G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:49754071C>G ENST00000304801.3 - 1 982 c.830G>C c.(829-831)gGt>gCt p.G277A NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 277 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) AATCCTTACACCATTCTTTTG 0.438000 36 80 0 0 0.003755 0 0 CNTN2 6900 broad.mit.edu 37 1 205033517 205033517 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:205033517C>T ENST00000331830.4 + 11 1592 c.1308C>T c.(1306-1308)atC>atT p.I436I NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 436 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGGGAGAGATCCTTATCCCCT 0.622000 23 148 0 0 0.002299 0 0 PHLDB2 90102 broad.mit.edu 37 3 111632494 111632494 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:111632494C>T ENST00000431670.2 + 3 2075 c.1664C>T c.(1663-1665)tCc>tTc p.S555F PHLDB2_ENST00000393925.3_Missense_Mutation_p.S555F|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S555F|PHLDB2_ENST00000495180.1_Missense_Mutation_p.S141F|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S582F|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S555F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S555F NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 555 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CCACCACCATCCTCCACCTTT 0.512000 73 171 0 0 0.003610 0 0 E4F1 1877 broad.mit.edu 37 16 2284185 2284185 + Silent SNP C C T rs113270919 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:2284185C>T ENST00000301727.4 + 10 1437 c.1389C>T c.(1387-1389)ttC>ttT p.F463F E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Silent_p.F463F NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 463 Interaction with BMI1.|Mediates interaction with CDKN2A. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CGAGGCCGTTCGCCTGCGCGC 0.706000 11 13 0 0 0.000978 0 0 CNTN6 27255 broad.mit.edu 37 3 1424693 1424693 + Missense_Mutation SNP C C T rs147805325 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:1424693C>T ENST00000446702.2 + 18 2861 c.2234C>T c.(2233-2235)tCg>tTg p.S745L CNTN6_ENST00000539053.1_Missense_Mutation_p.S673L|CNTN6_ENST00000350110.2_Missense_Mutation_p.S745L Q9UQ52 CNTN6_HUMAN contactin 6 745 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CCAGTGGGCTCGACAACCTGG 0.448000 26 47 0 0 0.004656 0 0 CSMD1 64478 broad.mit.edu 37 8 3443732 3443732 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:3443732C>T ENST00000602557.1 - 10 1706 c.1151G>A c.(1150-1152)gGa>gAa p.G384E CSMD1_ENST00000537824.1_Missense_Mutation_p.G383E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G384E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G383E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G384E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G383E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G384E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 384 Sushi 2. 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) GCTTTTAGATCCCTGGAGCAC 0.463000 8 25 0 0 0.003080 0 0 FOXA3 3171 broad.mit.edu 37 19 46375568 46375568 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:46375568G>A ENST00000302177.2 + 2 502 c.305G>A c.(304-306)gGg>gAg p.G102E NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 102 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) CTGGTGCACGGGAAGGAGATG 0.692000 16 30 0 0 0.007413 0 0 FMNL3 91010 broad.mit.edu 37 12 50045807 50045807 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:50045807G>A ENST00000335154.5 - 14 1745 c.1512C>T c.(1510-1512)gaC>gaT p.D504D FMNL3_ENST00000550488.1_Silent_p.D504D|FMNL3_ENST00000352151.5_Silent_p.D453D|FMNL3_ENST00000293590.5_Silent_p.D504D NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 504 Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 GAGCCAGAAGGTCCAGGTCGG 0.662000 4 10 0 0 0.009096 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43825296 43825296 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr12:43825296G>A ENST00000389420.3 - 22 3099 c.3100C>T c.(3100-3102)Ctt>Ttt p.L1034F ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L1034F|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.L188F NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1034 TSP type-1 5. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CATGTAACAAGGCACTGTAAG 0.368000 32 115 0 0 0.003271 0 0 EYA2 2139 broad.mit.edu 37 20 45717957 45717957 + Silent SNP G G A rs143429707 byFrequency TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:45717957G>A ENST00000327619.5 + 8 1115 c.741G>A c.(739-741)ggG>ggA p.G247G EYA2_ENST00000357410.3_Silent_p.G247G|EYA2_ENST00000317304.6_Silent_p.G247G NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 247 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CCTCCGACGGGAAGCTCCGAG 0.577000 64 66 0 0 0.003610 0 0 AGTR2 186 broad.mit.edu 37 X 115304175 115304175 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:115304175G>A ENST00000371906.4 + 3 832 c.642G>A c.(640-642)atG>atA p.M214I NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 214 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TTGCCTTAATGAAAAATATCC 0.373000 30 11 0 0 0.007291 0 0 DNAJC6 9829 broad.mit.edu 37 1 65831742 65831742 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:65831742C>T ENST00000395325.3 + 4 392 c.235C>T c.(235-237)Cct>Tct p.P79S DNAJC6_ENST00000263441.7_Missense_Mutation_p.P66S|DNAJC6_ENST00000371069.4_Missense_Mutation_p.P136S NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 79 Phosphatase tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 GATGTCCTTTCCTCTGGACAA 0.428000 55 138 0 0 0.003610 0 0 NUGGC 389643 broad.mit.edu 37 8 27917999 27917999 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:27917999C>T ENST00000413272.2 - 8 1183 c.1041G>A c.(1039-1041)agG>agA p.R347R NUGGC_ENST00000341513.6_Silent_p.R347R NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GGGCCACGTCCCTACAGAAGC 0.562000 OREG0018675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 25 0 0 0.008291 0 0 SOX7 83595 broad.mit.edu 37 8 10583900 10583900 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr8:10583900G>A ENST00000304501.1 - 2 593 c.515C>T c.(514-516)cCc>cTc p.P172L SOX7_ENST00000553390.1_Missense_Mutation_p.P224L|SOX7_ENST00000554914.1_Missense_Mutation_p.P224L NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 172 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) CCGGAGGCTGGGCAGGGCAGT 0.731000 10 19 0 0 0.006214 0 0 AGRN 375790 broad.mit.edu 37 1 980604 980626 + Frame_Shift_Del DEL GCTGCCAGGACAATATCACCGCA GCTGCCAGGACAATATCACCGCA - rs141886688 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:980604_980626delGCTGCCAGGACAATATCACCGCA ENST00000379370.2 + 13 2368_2390 c.2318_2340delGCTGCCAGGACAATATCACCGCA c.(2317-2340)tfs p.CCQDNITA773fs NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 773 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCG 0.686 7 32 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17720687 17720687 + RNA DEL G G - rs67226027 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:17720687delG ENST00000434762.2 + 0 1233 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGCCTCTGAGGGGGGAGGGG 0.587 4 8 --- --- --- --- RAP1GAP 5909 broad.mit.edu 37 1 21936093 21936094 + Frame_Shift_Ins INS - - G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:21936093_21936094insG ENST00000542643.2 - 16 1347_1348 c.1045_1046insC c.(1045-1047)cccfs p.P349fs RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.P380fs|RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000374765.4_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.P413fs NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 349 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GGGGTCCGGGAGGGGGGGTCCA 0.634 43 149 --- --- --- --- CRNN 49860 broad.mit.edu 37 1 152383381 152383381 + Frame_Shift_Del DEL A A - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr1:152383381delA ENST00000271835.3 - 3 239 c.177delT c.(175-177)cgfs p.R59fs RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 59 EF-hand. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CATCCAGCAGACGCAGGACCT 0.537 11 68 --- --- --- --- NFE2L2 4780 broad.mit.edu 37 2 178095665 178095666 + Frame_Shift_Ins INS - - T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr2:178095665_178095666insT ENST00000397062.3 - 5 2219_2220 c.1665_1666insA c.(1663-1668)aaaactfs p.T556fs NFE2L2_ENST00000397063.4_Frame_Shift_Ins_p.T540fs|NFE2L2_ENST00000464747.1_Frame_Shift_Ins_p.T540fs|NFE2L2_ENST00000446151.2_Frame_Shift_Ins_p.T533fs NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 556 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) GTGCTGAGTTGTTTTTTCAGTA 0.361 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 50 125 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 56330206 56330206 + Frame_Shift_Del DEL A A - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:56330206delA ENST00000288221.6 - 3 1170 c.915delT c.(913-915)atfs p.I305fs NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 305 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GAAGTTTTTTAATTGACTCAT 0.478 137 280 --- --- --- --- PIGX 54965 broad.mit.edu 37 3 196449386 196449386 + Frame_Shift_Del DEL C C - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr3:196449386delC ENST00000314118.4 + 3 436 c.154delC c.(154-156)cgfs p.P52fs PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000495440.1_3'UTR|PIGX_ENST00000421265.1_Frame_Shift_Del_p.P52fs NM_017861.3 NP_060331.3 Q8TBF5 PIGX_HUMAN phosphatidylinositol glycan anchor biosynthesis, class X 93 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(5)|lung(4)|stomach(1) 11 all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00322) TTATGTGGATCCGTATGAGTT 0.408 64 126 --- --- --- --- AK9 221264 broad.mit.edu 37 6 109980446 109980454 + In_Frame_Del DEL CTCTTCTTC CTCTTCTTC - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr6:109980446_109980454delCTCTTCTTC ENST00000424296.2 - 7 683_691 c.607_615delGAAGAAGAG c.(607-615)del p.EEE203del AK9_ENST00000368948.2_In_Frame_Del_p.EEE203del|AK9_ENST00000285397.5_In_Frame_Del_p.EEE203del|AK9_ENST00000341338.6_5'UTR NM_001145128.2 NP_001138600.2 adenylate kinase 9 cttcttcttgctcttcttcctcttcttcc 0.359 18 27 --- --- --- --- KIAA1432 57589 broad.mit.edu 37 9 5772956 5772956 + Frame_Shift_Del DEL C C - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:5772956delC ENST00000414202.2 + 25 4050 c.3859delC c.(3859-3861)ttfs p.L1287fs KIAA1432_ENST00000418622.3_Frame_Shift_Del_p.L1208fs|KIAA1432_ENST00000449720.2_Frame_Shift_Del_p.L1171fs NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1287 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AGGCCTGATTCTTAGAGAATC 0.388 21 31 --- --- --- --- PIP5K1B 8395 broad.mit.edu 37 9 71437594 71437594 + Frame_Shift_Del DEL A A - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr9:71437594delA ENST00000265382.3 + 4 369 c.64delA c.(64-66)aafs p.K23fs PIP5K1B_ENST00000541509.1_Frame_Shift_Del_p.K23fs|RP11-203L2.4_ENST00000442103.1_RNA NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 23 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AAAAACCTATAAAAAGGTGAG 0.393 32 29 --- --- --- --- FAM21EP 100421577 broad.mit.edu 37 10 51808214 51808214 + RNA DEL G G - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:51808214delG ENST00000456967.1 - 0 1759 NR_038275.1 CAACTCTGGCGGGGAAAAACC 0.398 11 12 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105752748 105752748 + Frame_Shift_Del DEL A A - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr10:105752748delA ENST00000369755.3 + 4 916 c.371delA c.(370-372)ggfs p.E124fs SLK_ENST00000335753.4_Frame_Shift_Del_p.E124fs NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 124 Protein kinase. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) ATAGAACTTGAGAGACCATTA 0.323 19 28 --- --- --- --- SYTL2 54843 broad.mit.edu 37 11 85437240 85437241 + Frame_Shift_Ins INS - - TT TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr11:85437240_85437241insTT ENST00000359152.5 - 1 1830_1831 c.1831_1832insAA c.(1831-1833)aaafs p.K611fs SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.K87fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.K87fs NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 134 Ser-rich. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTTTGAATTTAATTTCTCCATT 0.381 32 86 --- --- --- --- LOC101927978 101927978 broad.mit.edu 37 16 72763869 72763869 + RNA DEL A A - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr16:72763869delA ENST00000563328.2 + 0 164 GGTCCAAAACAAAAAAAAAAA 0.433 3 3 --- --- --- --- HNRNPM 4670 broad.mit.edu 37 19 8550606 8550606 + Frame_Shift_Del DEL T T - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:8550606delT ENST00000348943.3 + 15 1409 c.1177delT c.(1177-1179)ccfs p.S393fs HNRNPM_ENST00000325495.4_Frame_Shift_Del_p.S432fs NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 432 Poly-Gly. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 TCGCGTGGGCTCCGAGATCGA 0.706 45 129 --- --- --- --- GRIK5 2901 broad.mit.edu 37 19 42507603 42507615 + Splice_Site DEL AACCTGGAGGGCG AACCTGGAGGGCG - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr19:42507603_42507615delAACCTGGAGGGCG ENST00000262895.3 - 18 2392_2394 c.2392_splice c.e18-1 p.A798_splice GRIK5_ENST00000593562.1_Splice_Site_p.A798_splice|GRIK5_ENST00000301218.4_Splice_Site_p.A798_splice NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 798 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) TCCATGCCCAAACCTGGAGGGCGAAGGGAGTTG 0.573 8 73 --- --- --- --- ZNF335 63925 broad.mit.edu 37 20 44578901 44578912 + In_Frame_Del DEL GGTCTGGGTTGG GGTCTGGGTTGG - rs147383840 TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chr20:44578901_44578912delGGTCTGGGTTGG ENST00000322927.2 - 22 3533_3544 c.3433_3444delCCAACCCAGACC c.(3433-3444)del p.PTQT1145del ZNF335_ENST00000426788.1_In_Frame_Del_p.PTQT990del NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TCAGGATGATGGTCTGGGTTGGGGTCTGGGTA 0.608 21 144 --- --- --- --- TAF7L 54457 broad.mit.edu 37 X 100547850 100547850 + Frame_Shift_Del DEL C C - TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx d939c477-a01f-4d54-bcfb-c9fdd957f2ec 87ca642a-dd4c-47ea-b81f-2d3402f2157a g.chrX:100547850delC ENST00000372907.3 - 1 195 c.184delG c.(184-186)acfs p.D62fs TAF7L_ENST00000372905.2_5'UTR NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 62 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GTTTGAGTGTCCTCGTCGGCA 0.567 53 33 --- --- --- ---