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 FUK 197258 broad.mit.edu 37 16 70497537 70497537 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:70497537C>T ENST00000288078.6 + 3 326 c.94C>T c.(94-96)Cgg>Tgg p.R32W FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.R32W|FUK_ENST00000378912.2_Missense_Mutation_p.R32W NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 32 cytoplasm ATP binding|fucokinase activity p.R32W(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) ACTGGAAGTGCGGCAGAAGCG 0.617000 4 151 0 0 0.014758 0 0 MMP12 4321 broad.mit.edu 37 11 102743653 102743653 + RNA SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:102743653G>T ENST00000532855.1 - 0 388 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.H98N(1) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) CTGAAATGATGGACATCGGGG 0.507000 9 27 1.12685e-05 1.31908e-05 0.004482 1 0 RIT1 6016 broad.mit.edu 37 1 155874261 155874261 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:155874261C>A ENST00000368323.3 - 5 474 c.270G>T c.(268-270)atG>atT p.M90I RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.M107I|RIT1_ENST00000539040.1_Missense_Mutation_p.M54I NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 90 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity p.M90I(2) breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) CTCCTGCCCTCATATACTGGT 0.433000 21 47 6.44725e-10 8.38564e-10 0.014323 1 0 QRFPR 84109 broad.mit.edu 37 4 122261661 122261661 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr4:122261661G>T ENST00000394427.2 - 2 856 c.445C>A c.(445-447)Cat>Aat p.H149N QRFPR_ENST00000334383.5_Missense_Mutation_p.H149N NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 149 H -> Q (in dbSNP:rs11947418). plasma membrane neuropeptide Y receptor activity p.H149N(1) endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 TTAAAAGGATGCACAAGTCCC 0.468000 11 38 4.36969e-10 5.75873e-10 0.016723 1 0 SAP30BP 29115 broad.mit.edu 37 17 73702103 73702103 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr17:73702103G>T ENST00000584667.1 + 10 933 c.676G>T c.(676-678)Ggc>Tgc p.G226C SAP30BP_ENST00000355423.3_Missense_Mutation_p.G210C NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 226 Thr-rich. apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.G226C(1) kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GTTTGTGACGGGCACCAAAAA 0.577000 7 31 2.0095e-06 2.39455e-06 0.029380 1 0 KCNA1 3736 broad.mit.edu 37 12 5021401 5021401 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr12:5021401C>T ENST00000382545.3 + 2 1964 c.857C>T c.(856-858)aCc>aTc p.T286I KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 286 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity p.T286I(1) NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GAGCAGGCCACCTCCCTGGCC 0.542000 25 71 0 0 0.024334 0 0 IGHV3-48 28424 broad.mit.edu 37 14 106993970 106993970 + RNA SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr14:106993970C>A ENST00000390624.2 - 0 273 ATGAAACCCACTCCAGCCCCT 0.527000 41 105 2.77807e-22 4.38759e-22 0.013114 1 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 13 101 0 0 0.020292 0 0 XYLT1 64131 broad.mit.edu 37 16 17211541 17211541 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:17211541G>T ENST00000261381.6 - 11 2603 c.2519C>A c.(2518-2520)gCg>gAg p.A840E NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 840 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.A840E(1)|p.A840V(1) 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 GGTCAGAGGCGCAACGAGGAA 0.542000 13 40 4.3838e-07 5.33951e-07 0.016723 1 0 SKIV2L 6499 broad.mit.edu 37 6 31930285 31930285 + Silent SNP G G C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr6:31930285G>C ENST00000375394.2 + 11 1247 c.1134G>C c.(1132-1134)ggG>ggC p.G378G SKIV2L_ENST00000544581.1_Silent_p.G185G NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 378 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding p.G378G(1) breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 ACACATTCGGGGATGTGGGGC 0.562000 10 45 0 0 0.010729 0 0 AKIP1 56672 broad.mit.edu 37 11 8933196 8933196 + Missense_Mutation SNP C C G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:8933196C>G ENST00000529876.1 + 1 461 c.200C>G c.(199-201)cCg>cGg p.P67R AKIP1_ENST00000525005.1_Missense_Mutation_p.P67R|AKIP1_ENST00000299576.5_Missense_Mutation_p.P67R|AKIP1_ENST00000309357.4_Missense_Mutation_p.P67R|AKIP1_ENST00000309377.4_Missense_Mutation_p.P67R|AKIP1_ENST00000396648.2_Missense_Mutation_p.P67R|AKIP1_ENST00000534147.1_Missense_Mutation_p.P67R|AKIP1_ENST00000534506.1_Missense_Mutation_p.P67R Q9NQ31 AKIP1_HUMAN A kinase (PRKA) interacting protein 1 67 nucleus protein binding p.P67R(1) kidney(1)|large_intestine(2)|lung(2) 5 GCAGCCGGCCCGCAGCGCGTT 0.741000 3 6 0 0 0.009096 0 0 KIF5B 3799 broad.mit.edu 37 10 32307277 32307277 + Silent SNP G G C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr10:32307277G>C ENST00000302418.4 - 22 2863 c.2406C>G c.(2404-2406)ctC>ctG p.L802L KIF5B_ENST00000493889.1_Intron NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 802 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity p.L802L(1) KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) CCTGAACAAAGAGTTTGCGCA 0.368000 T """RET, ALK""" NSCLC 10 86 0 0 0.013537 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332776 22332776 + RNA SNP G G C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:22332776G>C ENST00000558896.1 + 0 583 GCCTATGACAGGTATGTTGCC 0.488000 6 46 0 0 0.029380 0 0 CTNNB1 1499 broad.mit.edu 37 3 41280817 41280817 + Missense_Mutation SNP T T C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr3:41280817T>C ENST00000349496.5 + 15 2610 c.2330T>C c.(2329-2331)tTt>tCt p.F777S CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000453024.1_Missense_Mutation_p.F770S|CTNNB1_ENST00000405570.1_Missense_Mutation_p.F777S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.F777S|CTNNB1_ENST00000396183.3_Missense_Mutation_p.F777S NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 777 Interaction with SCRIB (By similarity). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.F777S(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CTGGCCTGGTTTGATACTGAC 0.478000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 8 31 0 0 0.003080 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776174 77776174 + Nonsense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr8:77776174C>A ENST00000521891.2 + 11 10672 c.10224C>A c.(10222-10224)tgC>tgA p.C3408* ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.C3382*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.C3363*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.C3359* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3359 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.C3392W(1)|p.C3392*(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) GCAGAAAGTGCCAGATGATGT 0.413000 HNSCC(33;0.089) 4 10 0.00909568 0.00962787 0.009096 1 0 KBTBD7 84078 broad.mit.edu 37 13 41766583 41766583 + Missense_Mutation SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr13:41766583A>G ENST00000379483.3 - 1 2119 c.1811T>C c.(1810-1812)cTt>cCt p.L604P NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 604 protein binding p.L604P(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) AAACTGCAAAAGGCCTAACAT 0.423000 3 141 0 0 0.004672 0 0 CELF4 56853 broad.mit.edu 37 18 34853003 34853003 + Missense_Mutation SNP C C G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr18:34853003C>G ENST00000420428.2 - 7 1320 c.925G>C c.(925-927)Gcc>Ccc p.A309P CELF4_ENST00000588597.1_Missense_Mutation_p.A298P|CELF4_ENST00000591287.1_Missense_Mutation_p.A308P|CELF4_ENST00000361795.5_Missense_Mutation_p.A307P|CELF4_ENST00000334919.5_Missense_Mutation_p.A299P|CELF4_ENST00000601019.1_Missense_Mutation_p.A307P|CELF4_ENST00000603232.1_Missense_Mutation_p.A308P|CELF4_ENST00000591282.1_Missense_Mutation_p.A309P|CELF4_ENST00000412753.1_Missense_Mutation_p.A308P NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 309 Ala-rich. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding p.A309P(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 ATAGGTGCGGCCGCCAGGCCA 0.657000 4 50 0 0 0.009096 0 0 FMN2 56776 broad.mit.edu 37 1 240255621 240255621 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:240255621G>A ENST00000319653.9 + 1 442 c.212G>A c.(211-213)aGa>aAa p.R71K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 71 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.R214K(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) TCCGACTCCAGAGCCTCGGTG 0.667000 3 15 0 0 0.004672 0 0 OR2T6 254879 broad.mit.edu 37 1 248550951 248550951 + Silent SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:248550951C>T ENST00000355728.2 + 1 42 c.42C>T c.(40-42)ctC>ctT p.L14L NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L14L(1) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 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) GCTTTACCCTCATGGGGCTCT 0.423000 15 124 0 0 0.027356 0 0 FER1L6 654463 broad.mit.edu 37 8 125047562 125047562 + Silent SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr8:125047562C>A ENST00000522917.1 + 19 2537 c.2331C>A c.(2329-2331)gtC>gtA p.V777V FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V777V NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 777 integral to membrane p.V777V(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAGCAAAAGTCGACGTGTACC 0.498000 17 69 3.32936e-07 4.08977e-07 0.006122 1 0 CC2D1B 200014 broad.mit.edu 37 1 52824928 52824928 + Missense_Mutation SNP T T A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:52824928T>A ENST00000371586.2 - 10 1258 c.1120A>T c.(1120-1122)Acc>Tcc p.T374S CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.T374S NM_032449.2 NP_115825.1 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 374 p.T374S(1) breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 CTACCTGGGGTTGCTGGGACG 0.627000 19 44 0 0 0.006122 0 0 PPFIA4 8497 broad.mit.edu 37 1 203020922 203020922 + Missense_Mutation SNP G G C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:203020922G>C ENST00000367240.2 + 13 2001 c.1474G>C c.(1474-1476)Gtg>Ctg p.V492L PPFIA4_ENST00000599966.1_Missense_Mutation_p.V7L|PPFIA4_ENST00000447715.2_Missense_Mutation_p.V517L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.V7L|PPFIA4_ENST00000414050.2_Missense_Mutation_p.V220L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.V7L O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 7 SAM 2. cell communication cell surface|cytoplasm protein binding p.V7L(1)|p.V664L(1) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 TGCAGCAGACGTGCGGTTCTC 0.637000 6 24 0 0 0.021553 0 0 PDCD11 22984 broad.mit.edu 37 10 105166430 105166430 + Silent SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr10:105166430A>G ENST00000369797.3 + 7 847 c.753A>G c.(751-753)ggA>ggG p.G251G NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 251 S1 motif 2. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding p.G251G(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GCAACGGAGGAGTTGTTAGTC 0.483000 23 63 0 0 0.014323 0 0 ALG1L2 644974 broad.mit.edu 37 3 129817138 129817138 + RNA SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr3:129817138G>A ENST00000507643.1 + 0 720 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups AGAACCTGCGGGAGTCGCAGC 0.522000 3 44 0 0 0.014758 0 0 TNP1 7141 broad.mit.edu 37 2 217724644 217724644 + Silent SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr2:217724644C>T ENST00000236979.2 - 1 143 c.114G>A c.(112-114)ctG>ctA p.L38L AC007563.5_ENST00000447289.1_RNA NM_003284.3 NP_003275.1 P09430 STP1_HUMAN transition protein 1 (during histone to protamine replacement) 38 chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation nucleosome DNA binding p.L38L(1) large_intestine(1)|lung(1)|stomach(1) 3 Renal(207;0.0822) Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTACTTTTCAGGTTGCCCT 0.532000 25 125 0 0 0.027356 0 0 OR14C36 127066 broad.mit.edu 37 1 248512808 248512808 + Silent SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:248512808G>T ENST00000317861.1 + 1 732 c.732G>T c.(730-732)ctG>ctT p.L244L NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L244L(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CTCACATCCTGGTGGTGTCAG 0.498000 18 80 1.02788e-11 1.41068e-11 0.033300 1 0 BAZ2A 11176 broad.mit.edu 37 12 57003980 57003980 + Missense_Mutation SNP A A T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr12:57003980A>T ENST00000179765.5 - 10 1908 c.1709T>A c.(1708-1710)gTa>gAa p.V570E BAZ2A_ENST00000379441.3_Missense_Mutation_p.V572E|BAZ2A_ENST00000551812.1_Missense_Mutation_p.V602E|BAZ2A_ENST00000549884.1_Missense_Mutation_p.V600E Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 602 MBD. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding p.V602E(2)|p.V638E(1) breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GACACTGTGTACCACGTTGCG 0.488000 34 92 0 0 0.023175 0 0 OR52N2 390077 broad.mit.edu 37 11 5841596 5841596 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:5841596C>A ENST00000317037.2 + 1 53 c.31C>A c.(31-33)Cca>Aca p.P11T TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P11T(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) CAGCCTGACCCCAGGATTCTT 0.512000 28 85 1.7881e-09 2.29569e-09 0.037714 1 0 FAM47C 442444 broad.mit.edu 37 X 37028496 37028496 + Silent SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chrX:37028496C>T ENST00000358047.3 + 1 2065 c.2013C>T c.(2011-2013)ccC>ccT p.P671P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 671 p.P671P(3) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CGGAGCCCCCCGAGACTGGAG 0.647000 7 20 0 0 0.010729 0 0 ALG12 79087 broad.mit.edu 37 22 50302947 50302947 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr22:50302947G>A ENST00000330817.5 - 6 986 c.713C>T c.(712-714)cCg>cTg p.P238L NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase 238 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane p.P238L(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) CTTTCCTTCCGGCCAAGTGAG 0.502000 4 87 0 0 0.009096 0 0 CHRNA4 1137 broad.mit.edu 37 20 61982143 61982143 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr20:61982143C>T ENST00000370263.4 - 5 841 c.620G>A c.(619-621)gGc>gAc p.G207D CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 207 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.G207N(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GACCCACTCGCCACTCTCCCA 0.582000 13 46 0 0 0.024245 0 0 MMP25 64386 broad.mit.edu 37 16 3107615 3107615 + Splice_Site SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:3107615G>A ENST00000336577.4 + 7 1243 c.e7+1 RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.?(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 TTCTTCAAAGGTGAGTCATTT 0.517000 8 104 0 0 0.004482 0 0 NOS1 4842 broad.mit.edu 37 12 117726019 117726019 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr12:117726019C>A ENST00000344089.3 - 6 1728 c.1043G>T c.(1042-1044)cGg>cTg p.R348L NOS1_ENST00000317775.6_Silent_p.T329T|NOS1_ENST00000338101.4_Silent_p.T329T NM_001204213.1|NM_001204214.1 NP_001191142.1|NP_001191143.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 0 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.T329T(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CAGTGCATCCCGTTTCCTGGA 0.512000 19 68 1.96292e-10 2.60414e-10 0.010504 1 0 EXOSC10 5394 broad.mit.edu 37 1 11151600 11151600 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:11151600G>A ENST00000544779.1 - 4 432 c.427C>T c.(427-429)Cct>Tct p.P143S EXOSC10_ENST00000304457.7_Missense_Mutation_p.P143S|EXOSC10_ENST00000376936.4_Missense_Mutation_p.P143S Q01780 EXOSX_HUMAN exosome component 10 143 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding p.P143S(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) AAGCCGGCAGGGAGGACAGGC 0.463000 10 51 0 0 0.008291 0 0 DANCR 57291 broad.mit.edu 37 4 53579678 53579678 + RNA SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr4:53579678C>A ENST00000411630.2 + 0 252 NR_024031.1 ACTACAGGCACAAGCCATTGA 0.343000 5 13 0.00198382 0.00215727 0.029380 1 0 SMO 6608 broad.mit.edu 37 7 128846405 128846405 + Missense_Mutation SNP T T C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr7:128846405T>C ENST00000249373.3 + 6 1521 c.1241T>C c.(1240-1242)gTg>gCg p.V414A NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 414 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.V414A(1) biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GTGCTCATCGTGGGAGGCTAC 0.572000 Mis skin basal cell 47 179 0 0 0.014410 0 0 OR14A16 284532 broad.mit.edu 37 1 247978952 247978952 + Missense_Mutation SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:247978952A>G ENST00000357627.1 - 1 79 c.80T>C c.(79-81)aTt>aCt p.I27T NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I27T(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 CAAGAAGAGAATCGAATGCAA 0.393000 13 48 0 0 0.020292 0 0 PDZD2 23037 broad.mit.edu 37 5 32074612 32074612 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr5:32074612G>A ENST00000438447.1 + 18 3788 c.3400G>A c.(3400-3402)Gag>Aag p.E1134K PDZD2_ENST00000282493.3_Missense_Mutation_p.E1134K O15018 PDZD2_HUMAN PDZ domain containing 2 1134 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.E1134K(1) 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 ATCCGAGGCTGAGGCCAAGCC 0.602000 7 41 0 0 0.029380 0 0 PRKD1 5587 broad.mit.edu 37 14 30066795 30066795 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr14:30066795C>T ENST00000331968.5 - 16 2565 c.2336G>A c.(2335-2337)gGc>gAc p.G779D PRKD1_ENST00000415220.2_Missense_Mutation_p.G787D NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 779 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity p.G779D(4)|p.G779A(2) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TGGGAATGTGCCGCTTAGGCT 0.463000 4 107 0 0 0.009096 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 72 0 0 0.004672 0 0 PDGFRA 5156 broad.mit.edu 37 4 55156542 55156542 + Silent SNP T T A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr4:55156542T>A ENST00000257290.5 + 22 3274 c.2943T>A c.(2941-2943)cgT>cgA p.R981R FIP1L1_ENST00000507166.1_Silent_p.R741R NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 981 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.R981R(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CACGCATGCGTGTGGACTCAG 0.448000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 24 76 0 0 0.018920 0 0 ZNF195 7748 broad.mit.edu 37 11 3380496 3380496 + Missense_Mutation SNP T T C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:3380496T>C ENST00000354599.6 - 4 1630 c.1526A>G c.(1525-1527)gAc>gGc p.D509G ZNF195_ENST00000399602.4_Missense_Mutation_p.D581G|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.D513G|ZNF195_ENST00000526601.1_Missense_Mutation_p.D562G|ZNF195_ENST00000429541.2_Missense_Mutation_p.D513G|ZNF195_ENST00000005082.9_Missense_Mutation_p.D558G NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 581 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D509G(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TCCACATTCGTCACATTTGTA 0.403000 3 112 0 0 0.004672 0 0 MS4A15 219995 broad.mit.edu 37 11 60531432 60531432 + Splice_Site SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:60531432G>T ENST00000405633.3 + 2 304 c.e2+1 MS4A15_ENST00000528170.1_Splice_Site|MS4A15_ENST00000337911.4_Intron NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 integral to membrane receptor activity p.?(1) breast(1)|large_intestine(2)|lung(3) 6 AGTTTTGGGGGTAAGAACAGC 0.557000 6 12 0.00116845 0.00128464 0.021553 1 0 PLXNA4 91584 broad.mit.edu 37 7 131887475 131887475 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr7:131887475G>T ENST00000359827.3 - 12 3478 c.2516C>A c.(2515-2517)cCt>cAt p.P839H PLXNA4_ENST00000321063.4_Missense_Mutation_p.P839H Q9HCM2 PLXA4_HUMAN plexin A4 839 PSI 3. integral to membrane|intracellular|plasma membrane p.P839H(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CTCCTGGGCAGGGCAGTGCTG 0.657000 9 33 0.000442599 0.000494816 0.006214 1 0 GRIK2 2898 broad.mit.edu 37 6 102250223 102250223 + Silent SNP C C G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr6:102250223C>G ENST00000369138.1 + 8 1603 c.1113C>G c.(1111-1113)ctC>ctG p.L371L GRIK2_ENST00000369134.4_Silent_p.L322L|GRIK2_ENST00000421544.1_Silent_p.L371L|GRIK2_ENST00000318991.6_Silent_p.L371L|GRIK2_ENST00000369137.3_Silent_p.L371L|GRIK2_ENST00000413795.1_Silent_p.L371L NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 371 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.L371L(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GGGAAGGCCTCACAGGCAGAA 0.338000 5 9 0 0 0.021553 0 0 CLCN1 1180 broad.mit.edu 37 7 143029825 143029825 + Silent SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr7:143029825C>A ENST00000343257.2 + 12 1347 c.1260C>A c.(1258-1260)ccC>ccA p.P420P NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 420 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.P420P(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) AGTTGATGCCCCGCGAAGCCA 0.522000 56 206 4.83215e-14 6.91797e-14 0.014410 1 0 ZNF285 26974 broad.mit.edu 37 19 44896581 44896581 + Missense_Mutation SNP A A T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr19:44896581A>T ENST00000330997.4 - 3 129 c.65T>A c.(64-66)cTg>cAg p.L22Q CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.L29Q|ZNF285_ENST00000544719.2_Missense_Mutation_p.L22Q NM_152354.3 NP_689567.3 zinc finger protein 285 p.L22Q(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CAATAGTGCCAGCTCTTCCTT 0.448000 35 108 0 0 0.015359 0 0 ZAN 7455 broad.mit.edu 37 7 100349509 100349509 + RNA SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr7:100349509C>A ENST00000542585.1 + 0 1929 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_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 p.P594H(2) 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) CCCACCATTCCCACAGAAAAA 0.468000 14 51 7.93312e-07 9.56782e-07 0.020292 1 0 SRSF1 6426 broad.mit.edu 37 17 56083844 56083844 + Missense_Mutation SNP T T C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr17:56083844T>C ENST00000582730.2 - 2 362 c.239A>G c.(238-240)gAt>gGt p.D80G SRSF1_ENST00000584773.1_Missense_Mutation_p.D80G|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000258962.4_Missense_Mutation_p.D80G NM_001078166.1 NP_001071634.1 Q07955 SRSF1_HUMAN serine/arginine-rich splicing factor 1 80 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding p.D80G(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACGGTACCCATCGTAATCATA 0.637000 4 31 0 0 0.014758 0 0 KEL 3792 broad.mit.edu 37 7 142641808 142641808 + Silent SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr7:142641808C>A ENST00000355265.2 - 12 1809 c.1335G>T c.(1333-1335)gcG>gcT p.A445A NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 445 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.A445A(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CATCCCGGATCGCAGTGAATA 0.602000 13 38 6.31663e-08 7.80751e-08 0.024245 1 0 GPRIN1 114787 broad.mit.edu 37 5 176023823 176023823 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr5:176023823G>T ENST00000303991.4 - 2 3190 c.3013C>A c.(3013-3015)Ccc>Acc p.P1005T NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 1005 Interaction with GNAO1 (By similarity). growth cone|plasma membrane p.P1005T(1) NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCGGCCGTGGGTCCCGCCCGC 0.706000 4 17 0.00024832 0.000280771 0.009096 1 0 SHROOM3 57619 broad.mit.edu 37 4 77675651 77675651 + Missense_Mutation SNP A A T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr4:77675651A>T ENST00000296043.6 + 7 4968 c.4015A>T c.(4015-4017)Acg>Tcg p.T1339S NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1339 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding p.T1338S(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) ACTGGCAGGAACGCAAGGGCT 0.607000 17 79 0 0 0.006122 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763345 77763345 + Silent SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr8:77763345G>A ENST00000521891.2 + 10 4636 c.4188G>A c.(4186-4188)aaG>aaA p.K1396K ZFHX4_ENST00000518282.1_Silent_p.K1370K|ZFHX4_ENST00000455469.2_Silent_p.K1351K|ZFHX4_ENST00000050961.6_Silent_p.K1351K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1351 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K1396K(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) ATGTCTACAAGTATCGCTGTA 0.428000 HNSCC(33;0.089) 10 44 0 0 0.006214 0 0 NMT1 4836 broad.mit.edu 37 17 43175845 43175845 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr17:43175845G>T ENST00000592782.1 + 8 940 c.809G>T c.(808-810)cGg>cTg p.R270L NMT1_ENST00000258960.2_Missense_Mutation_p.R270L P30419 NMT1_HUMAN N-myristoyltransferase 1 270 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity p.R270L(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) ATCACCAGGCGGGTTCACCTG 0.532000 32 118 5.8336e-16 8.7946e-16 0.015359 1 0 NRROS 375387 broad.mit.edu 37 3 196386667 196386667 + Silent SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr3:196386667G>T ENST00000328557.4 + 3 356 c.153G>T c.(151-153)gtG>gtT p.V51V NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species p.V51V(1) TCGCTTCGGTGCCCAGCAGCC 0.652000 7 24 2.0095e-06 2.39455e-06 0.029380 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140755360 140755360 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr5:140755360C>A ENST00000517434.1 + 1 1710 c.1710C>A c.(1708-1710)gaC>gaA p.D570E PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 p.D570E(1) breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCACAGACGGTTCCACTG 0.667000 39 148 8.69298e-16 1.29097e-15 0.027894 1 0 PTGFR 5737 broad.mit.edu 37 1 78959135 78959135 + Missense_Mutation SNP A A T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:78959135A>T ENST00000370756.3 + 2 944 c.707A>T c.(706-708)cAg>cTg p.Q236L PTGFR_ENST00000370758.1_Missense_Mutation_p.Q236L|PTGFR_ENST00000370757.3_Missense_Mutation_p.Q236L NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 236 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.Q236L(2) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) AAAAGTCAGCAGCACAGACAA 0.413000 21 64 0 0 0.024334 0 0 TNS1 7145 broad.mit.edu 37 2 218669198 218669198 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr2:218669198G>A ENST00000171887.4 - 33 5644 c.5192C>T c.(5191-5193)gCc>gTc p.A1731V TNS1_ENST00000430930.1_Missense_Mutation_p.A1710V|TNS1_ENST00000419504.1_Missense_Mutation_p.A1717V NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1731 cytoplasm|cytoskeleton|focal adhesion actin binding p.A1731V(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CTTTTGGCCGGCATTCAGCAT 0.612000 4 124 0 0 0.014758 0 0 SERINC4 619189 broad.mit.edu 37 15 44087738 44087738 + Splice_Site SNP C C T rs74494149 TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:44087738C>T ENST00000319327.6 - 11 1425 c.1189_splice c.e11-1 p.G397_splice SERINC4_ENST00000249714.3_Splice_Site_p.G153_splice|SERINC4_ENST00000299969.6_Splice_Site_p.G323_splice|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409646.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000409291.1_Intron NM_001258031.1 NP_001244960.1 A6NH21 SERC4_HUMAN serine incorporator 4 397 phospholipid biosynthetic process integral to membrane p.G153G(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 6 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) CACCCCTTTGCCCTGGAGAGA 0.557000 4 93 0 0 0.009096 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802719 185802719 + Nonsense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr2:185802719G>T ENST00000302277.6 + 4 3190 c.2596G>T c.(2596-2598)Gaa>Taa p.E866* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 866 intracellular zinc ion binding p.E866*(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 TGCAAAAATCGAAAGGAACTC 0.353000 22 64 2.89027e-11 3.91268e-11 0.014323 1 0 KIF21B 23046 broad.mit.edu 37 1 200969648 200969648 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:200969648C>A ENST00000332129.2 - 11 1871 c.1555G>T c.(1555-1557)Gct>Tct p.A519S KIF21B_ENST00000461742.2_Missense_Mutation_p.A519S|KIF21B_ENST00000422435.2_Missense_Mutation_p.A519S|KIF21B_ENST00000360529.5_Missense_Mutation_p.A519S 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 519 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.A519S(1) 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 GCTGGAGAAGCACCCAGGGAG 0.657000 21 88 9.95505e-16 1.46745e-15 0.014323 1 0 KRTAP6-3 337968 broad.mit.edu 37 21 31964831 31964831 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr21:31964831G>T ENST00000391624.1 + 1 73 c.46G>T c.(46-48)Ggg>Tgg p.G16W NM_181605.3 NP_853636.3 keratin associated protein 6-3 p.G16W(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7) 10 CCATGGCTATGggtgctgtgg 0.567000 10 47 0.0167234 0.0175155 0.016723 1 0 OR10AG1 282770 broad.mit.edu 37 11 55735567 55735567 + Missense_Mutation SNP G G C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:55735567G>C ENST00000312345.2 - 1 423 c.373C>G c.(373-375)Cta>Gta p.L125V NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L125V(1) 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) TTCATCACTAGAGGATACTGC 0.438000 7 30 0 0 0.029380 0 0 AADACL4 343066 broad.mit.edu 37 1 12711299 12711299 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:12711299C>T ENST00000376221.1 + 2 326 c.326C>T c.(325-327)tCc>tTc p.S109F NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 109 integral to membrane carboxylesterase activity p.S109F(1) 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) GCAGCATCCTCCAGACCCCGG 0.562000 21 52 0 0 0.014323 0 0 AKAP13 11214 broad.mit.edu 37 15 86266516 86266516 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:86266516G>A ENST00000394518.2 + 26 6805 c.6710G>A c.(6709-6711)aGt>aAt p.S2237N AKAP13_ENST00000394510.2_Missense_Mutation_p.S482N|AKAP13_ENST00000361243.2_Missense_Mutation_p.S2241N|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2237 Interaction with ESR1.|PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.S2241N(1)|p.S317N(1) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CGTGATGGGAGTGTGTTTCTG 0.413000 5 67 0 0 0.014758 0 0 KMT2C 58508 broad.mit.edu 37 7 151962175 151962175 + Missense_Mutation SNP A A C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr7:151962175A>C ENST00000355193.2 - 8 1350 c.1132T>G c.(1132-1134)Tta>Gta p.L378V KMT2C_ENST00000262189.6_Missense_Mutation_p.L378V lysine (K)-specific methyltransferase 2C p.L378V(2) GCACGTTTTAATGGAGTAACC 0.453000 8 311 0 0 0.028581 0 0 CEP170 9859 broad.mit.edu 37 1 243354382 243354382 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:243354382C>A ENST00000366542.1 - 8 1097 c.1046G>T c.(1045-1047)aGa>aTa p.R349I CEP170_ENST00000366544.1_Missense_Mutation_p.R349I|CEP170_ENST00000366543.1_Missense_Mutation_p.R349I NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 349 centriole|microtubule|spindle p.R349I(1) NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CTCTTCTGTTCTTTCCCATAG 0.403000 3 12 0.014758 0.0155388 0.014758 1 0 PARP10 84875 broad.mit.edu 37 8 145058247 145058247 + Missense_Mutation SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr8:145058247A>G ENST00000313028.7 - 7 1800 c.1706T>C c.(1705-1707)gTg>gCg p.V569A PARP10_ENST00000524918.1_Missense_Mutation_p.V569A|PARP10_ENST00000525773.1_Missense_Mutation_p.V581A NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 569 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding p.V569A(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCAGGGAGCACTGGGAGGGC 0.652000 11 38 0 0 0.010729 0 0 PDGFD 80310 broad.mit.edu 37 11 103780477 103780477 + Missense_Mutation SNP T T C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:103780477T>C ENST00000302251.5 - 7 1491 c.1040A>G c.(1039-1041)cAg>cGg p.Q347R PDGFD_ENST00000393158.2_Missense_Mutation_p.Q353R NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 353 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity p.Q353R(2) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) GTGATCCAACTGGATGTCAAC 0.448000 28 130 0 0 0.030593 0 0 CHRNA4 1137 broad.mit.edu 37 20 61982144 61982144 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr20:61982144C>T ENST00000370263.4 - 5 840 c.619G>A c.(619-621)Ggc>Agc p.G207S CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 207 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.G207N(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) ACCCACTCGCCACTCTCCCAG 0.582000 13 47 0 0 0.024245 0 0 MXRA5 25878 broad.mit.edu 37 X 3240769 3240769 + Nonsense_Mutation SNP G G C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chrX:3240769G>C ENST00000217939.6 - 5 3111 c.2957C>G c.(2956-2958)tCa>tGa p.S986* NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 986 extracellular region p.S986*(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATCTGGTTGTGACTTAGTCTC 0.478000 4 61 0 0 0.009096 0 0 GALR1 2587 broad.mit.edu 37 18 74980579 74980579 + Silent SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr18:74980579A>G ENST00000299727.3 + 3 771 c.771A>G c.(769-771)ggA>ggG p.G257G NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 257 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity p.G257G(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) TGGTGTTTGGAATCTCCTGGC 0.557000 26 170 0 0 0.012213 0 0 TMEM202 338949 broad.mit.edu 37 15 72698971 72698971 + Missense_Mutation SNP T T C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:72698971T>C ENST00000567679.1 + 2 128 c.110T>C c.(109-111)tTc>tCc p.F37S TMEM202_ENST00000341689.3_Silent_p.F122F A6NGA9 TM202_HUMAN transmembrane protein 202 35 integral to membrane p.F122F(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 GGGCCTTCTTTCTCATCTCTG 0.463000 28 85 0 0 0.015359 0 0 TMC5 79838 broad.mit.edu 37 16 19451966 19451966 + Silent SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:19451966G>T ENST00000396229.2 + 3 1355 c.606G>T c.(604-606)ctG>ctT p.L202L TMC5_ENST00000381414.4_Silent_p.L202L|TMC5_ENST00000542583.2_Silent_p.L202L|TMC5_ENST00000541464.1_Silent_p.L202L NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 202 integral to membrane p.G203*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAGACTCTCTGGGAAAGCCTG 0.468000 33 87 1.26612e-14 1.8391e-14 0.015359 1 0 GLRX 2745 broad.mit.edu 37 5 95152247 95152247 + Silent SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr5:95152247C>A ENST00000379979.4 - 2 342 c.291G>T c.(289-291)acG>acT p.T97T GLRX_ENST00000507605.1_5'UTR|GLRX_ENST00000505427.1_Silent_p.T97T|GLRX_ENST00000237858.6_Silent_p.T97T|GLRX_ENST00000512469.2_Silent_p.T97T|GLRX_ENST00000508780.1_Silent_p.T97T NM_002064.2 NP_002055.1 P35754 GLRX1_HUMAN glutaredoxin (thioltransferase) 97 Glutaredoxin. cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport cytosol electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding p.T97T(1) endometrium(3)|large_intestine(1)|lung(1) 5 all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;2.62e-16) Glutathione(DB00143) GCTTTAGCCGCGTCAGCAGTT 0.512000 21 46 2.89027e-11 3.91268e-11 0.014323 1 0 ZFP28 140612 broad.mit.edu 37 19 57066566 57066566 + Silent SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr19:57066566G>A ENST00000301318.3 + 8 2483 c.2412G>A c.(2410-2412)aaG>aaA p.K804K AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 804 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K804K(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) ATCAACATAAGAGAGTTCATA 0.378000 4 140 0 0 0.009096 0 0 CHML 1122 broad.mit.edu 37 1 241797243 241797243 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:241797243G>A ENST00000366553.1 - 1 1989 c.1826C>T c.(1825-1827)cCa>cTa p.P609L OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 609 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity p.P609L(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) ATTTGGAGGTGGAGGGCAGAA 0.473000 23 83 0 0 0.014323 0 0 CTPS1 1503 broad.mit.edu 37 1 41456895 41456895 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:41456895G>A ENST00000372621.4 + 6 1122 c.614G>A c.(613-615)aGa>aAa p.R205K CTPS1_ENST00000543104.1_Missense_Mutation_p.R212K|CTPS1_ENST00000541520.1_5'UTR|CTPS1_ENST00000372616.1_Missense_Mutation_p.R205K NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 205 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding p.R205K(2) endometrium(3)|lung(10) 13 L-Glutamine(DB00130) CGGGAACTTAGAGGACTTGGG 0.388000 14 51 0 0 0.028581 0 0 KDR 3791 broad.mit.edu 37 4 55968660 55968660 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr4:55968660G>T ENST00000263923.4 - 14 2298 c.2003C>A c.(2002-2004)aCg>aAg p.T668K NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 668 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.T668M(1)|p.T668K(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TCCTGTGATCGTGGGTGCCAC 0.428000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 16 56 1.56452e-12 2.1772e-12 0.007413 1 0 TAF1L 138474 broad.mit.edu 37 9 32633525 32633525 + Missense_Mutation SNP G G A rs147409173 TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr9:32633525G>A ENST00000242310.4 - 1 2142 c.2053C>T c.(2053-2055)Cgc>Tgc p.R685C RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 685 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 p.R685C(1) 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) TGAGGTGTGCGCATAAAAAAC 0.448000 4 159 0 0 0.009096 0 0 NUP50 10762 broad.mit.edu 37 22 45574368 45574368 + Missense_Mutation SNP T T C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr22:45574368T>C ENST00000347635.3 + 5 1056 c.590T>C c.(589-591)aTt>aCt p.I197T NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.I169T|NUP50_ENST00000396096.2_Missense_Mutation_p.I169T NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 197 5 X 2 AA repeats of F-G.|Binding to CDKN1B (By similarity). carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding p.I197T(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TTAGCAAACATTGAACAGCAA 0.423000 4 108 0 0 0.009096 0 0 FAM66D 100132923 broad.mit.edu 37 8 11985809 11985809 + RNA SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr8:11985809C>T ENST00000434078.2 + 0 608 NR_027425.1 AAGTAATGTCCGTTGTGACAA 0.483000 6 21 0 0 0.021553 0 0 MYO7B 4648 broad.mit.edu 37 2 128347795 128347795 + Silent SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr2:128347795G>A ENST00000389524.4 + 16 2036 c.1983G>A c.(1981-1983)aaG>aaA p.K661K MYO7B_ENST00000409816.2_Silent_p.K661K|MYO7B_ENST00000428314.1_Silent_p.K661K Q6PIF6 MYO7B_HUMAN myosin VIIB 661 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.K661K(2) 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) ATGAGTACAAGAAGCCGCTGG 0.552000 9 33 0 0 0.010729 0 0 BRINP2 57795 broad.mit.edu 37 1 177249934 177249934 + Nonsense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:177249934G>A ENST00000361539.4 + 8 1934 c.1622G>A c.(1621-1623)tGg>tAg p.W541* FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 541 extracellular region p.W541*(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CTGGGCAGCTGGTTTGACCCT 0.552000 4 30 0 0 0.009096 0 0 CDH24 64403 broad.mit.edu 37 14 23517504 23517504 + Silent SNP G G C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr14:23517504G>C ENST00000397359.3 - 13 2404 c.2145C>G c.(2143-2145)ggC>ggG p.G715G CDH24_ENST00000487137.2_Silent_p.G677G|CDH24_ENST00000267383.5_Silent_p.G715G|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Silent_p.G677G NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 715 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 p.G677G(1)|p.G715G(1) 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) gcgcgggagggccgggcgccg 0.781000 8 38 0 0 0.003080 0 0 DSC2 1824 broad.mit.edu 37 18 28650692 28650692 + Splice_Site SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr18:28650692C>A ENST00000280904.6 - 14 2693 c.2250_splice c.e14+1 p.V750_splice DSC2_ENST00000251081.6_Splice_Site_p.V750_splice NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 750 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.V750V(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GACTACTTACCACTTTGTCAT 0.368000 16 48 5.01169e-05 5.73177e-05 0.033300 1 0 DHRS2 10202 broad.mit.edu 37 14 24114489 24114489 + Missense_Mutation SNP T T A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr14:24114489T>A ENST00000344777.7 + 9 1319 c.881T>A c.(880-882)gTg>gAg p.V294E DHRS2_ENST00000250383.6_3'UTR NM_182908.4 NP_878912.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 0 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity p.V294E(1) endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) TGCGTAGCTGTGGTCCCAGGC 0.597000 31 87 0 0 0.009535 0 0 SNHG14 104472715 broad.mit.edu 37 15 25472159 25472159 + RNA SNP G G C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:25472159G>C ENST00000453082.2 + 0 1201 NR_003343.1 TGAAGCTCAGGACCTTCCTAG 0.632000 26 47 0 0 0.024334 0 0 KEAP1 9817 broad.mit.edu 37 19 10600006 10600006 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr19:10600006C>A ENST00000171111.5 - 5 2117 c.1570G>T c.(1570-1572)Ggc>Tgc p.G524C KEAP1_ENST00000393623.2_Missense_Mutation_p.G524C NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.G524C(2) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCATCATAGCCCCCAGCAGCA 0.582000 11 24 0.000978159 0.00108745 0.010729 1 0 BAGE2 85319 broad.mit.edu 37 21 11049502 11049502 + RNA SNP A A C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr21:11049502A>C ENST00000470054.1 - 0 606 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) GCACGTTTTAATGGAGTAACC 0.458000 8 137 0 0 0.003080 0 0 ERBB2 2064 broad.mit.edu 37 17 37876038 37876038 + Splice_Site SNP A A T rs112734930 TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr17:37876038A>T ENST00000406381.2 + 18 2318 c.e18-1 ERBB2_ENST00000269571.5_Splice_Site|ERBB2_ENST00000541774.1_Splice_Site|ERBB2_ENST00000584601.1_Splice_Site|ERBB2_ENST00000540147.1_Splice_Site|ERBB2_ENST00000584450.1_Splice_Site|ERBB2_ENST00000445658.2_Splice_Site NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 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 p.?(1) 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) TTTCTCCTGCAGCTGTGTGGA 0.587000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 36 98 0 0 0.025465 0 0 ARGFX 503582 broad.mit.edu 37 3 121305205 121305205 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr3:121305205C>A ENST00000334384.3 + 4 716 c.706C>A c.(706-708)Ctt>Att p.L236I NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 236 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L236I(1) kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) ACTGTACAATCTTCCTGATGA 0.463000 28 102 4.7796e-09 5.98202e-09 0.024334 1 0 PAPPA2 60676 broad.mit.edu 37 1 176811543 176811543 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:176811543C>A ENST00000367662.3 + 23 6493 c.5329C>A c.(5329-5331)Ctg>Atg p.L1777M NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1777 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.L1777M(1) 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 TGACTGTGACCTGGATGAGTG 0.488000 17 32 5.26018e-13 7.42394e-13 0.012319 1 0 BRD9 65980 broad.mit.edu 37 5 865601 865601 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr5:865601G>A ENST00000323510.4 - 12 1332 c.1333C>T c.(1333-1335)Cgc>Tgc p.R445C BRD9_ENST00000483173.1_Missense_Mutation_p.R488C|BRD9_ENST00000388890.4_Missense_Mutation_p.R425C|BRD9_ENST00000467963.1_Missense_Mutation_p.R541C Q9H8M2 BRD9_HUMAN bromodomain containing 9 541 nucleic acid binding p.E444_R445>DC(1)|p.E540_R541>DC(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GAGCCGCCGCGCTCCGCCTGT 0.647000 29 119 0 0 0.037714 0 0 KDM4D 55693 broad.mit.edu 37 11 94731100 94731100 + Silent SNP G G C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:94731100G>C ENST00000335080.5 + 3 1396 c.564G>C c.(562-564)acG>acC p.T188T KDM4D_ENST00000536741.1_Silent_p.T188T NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 188 JmjC. 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 p.T188T(1) endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GGAAAACCACGTTTGCTTGGC 0.512000 28 97 0 0 0.030593 0 0 ECT2L 345930 broad.mit.edu 37 6 139135693 139135693 + Silent SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr6:139135693A>G ENST00000423192.1 + 3 293 c.132A>G c.(130-132)caA>caG p.Q44Q ECT2L_ENST00000541398.1_5'UTR|ECT2L_ENST00000367682.2_Silent_p.Q44Q Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 44 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.Q44Q(1) 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 AGCAACGTCAAGAATTCTTAT 0.358000 """N, Splice, Mis""" ETP ALL 5 45 0 0 0.021553 0 0 TXNDC2 84203 broad.mit.edu 37 18 9886910 9886910 + Missense_Mutation SNP A A T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr18:9886910A>T ENST00000306084.6 + 2 633 c.434A>T c.(433-435)aAa>aTa p.K145I TXNDC2_ENST00000357775.4_Missense_Mutation_p.K78I|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K78I|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 145 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. 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 p.K78I(1)|p.K145I(1) 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 ATCCAGCCCAAAGAGAGTAAC 0.562000 39 99 0 0 0.021022 0 0 OR8H1 219469 broad.mit.edu 37 11 56057967 56057967 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:56057967G>T ENST00000313022.2 - 1 599 c.572C>A c.(571-573)aCa>aAa p.T191K NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T191K(1) NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AATGTCGTATGTGTCCATGCA 0.433000 29 69 1.7881e-09 2.29569e-09 0.037714 1 0 KLHL11 55175 broad.mit.edu 37 17 40010662 40010662 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr17:40010662G>A ENST00000319121.3 - 2 1517 c.1457C>T c.(1456-1458)tCg>tTg p.S486L NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 486 extracellular region p.S486L(1) NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) CTTTGGTGCCGATTCCAAGTT 0.458000 37 119 0 0 0.017118 0 0 SYT1 6857 broad.mit.edu 37 12 79689917 79689917 + Nonsense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr12:79689917C>A ENST00000261205.4 + 7 1200 c.543C>A c.(541-543)taC>taA p.Y181* SYT1_ENST00000552744.1_Nonsense_Mutation_p.Y181*|SYT1_ENST00000393240.3_Nonsense_Mutation_p.Y181*|SYT1_ENST00000457153.2_Nonsense_Mutation_p.Y178* NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 181 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity p.Y181*(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 CTGATCCTTACGTGAAAGTGT 0.433000 11 49 5.50884e-06 6.48674e-06 0.013537 1 0 GALR1 2587 broad.mit.edu 37 18 74980858 74980858 + Nonstop_Mutation SNP A A C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr18:74980858A>C ENST00000299727.3 + 3 1050 c.1050A>C c.(1048-1050)tgA>tgC p.*350C NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 0 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity p.*350C(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CTCATGTGTGATAAAAGATAG 0.383000 8 114 0 0 0.004482 0 0 ITGAX 3687 broad.mit.edu 37 16 31382711 31382711 + Missense_Mutation SNP C C G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:31382711C>G ENST00000268296.4 + 16 2019 c.1898C>G c.(1897-1899)cCc>cGc p.P633R ITGAX_ENST00000562522.1_Missense_Mutation_p.P633R NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 633 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity p.P633R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GCCGAGATCCCCAGGTCTGCG 0.587000 10 40 0 0 0.008291 0 0 PIGB 9488 broad.mit.edu 37 15 55611455 55611455 + Silent SNP A A C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:55611455A>C ENST00000164305.5 + 1 298 c.7A>C c.(7-9)Agg>Cgg p.R3R PIGB_ENST00000539642.1_5'UTR|PIGB_ENST00000569909.1_3'UTR NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 3 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity p.R3R(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) AGGGATGAGGAGGCCCCTAAG 0.597000 4 18 0 0 0.014758 0 0 TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr17:7578235T>C ENST00000420246.2 - 6 746 c.614A>G c.(613-615)tAt>tGt p.Y205C TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000269305.4_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 205 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCATCCAAATACTCCACACG 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 53 0 0 0.009096 0 0 PRKAB2 5565 broad.mit.edu 37 1 146639438 146639438 + Silent SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:146639438C>T ENST00000254101.3 - 3 369 c.231G>A c.(229-231)cgG>cgA p.R77R PRKAB2_ENST00000425272.2_Intron NM_005399.3 NP_005390.1 O43741 AAKB2_HUMAN protein kinase, AMP-activated, beta 2 non-catalytic subunit 77 carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm p.R77R(1) NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.0487) Adenosine monophosphate(DB00131) TAACAGTGGGCCGGGCCTGCT 0.522000 63 333 0 0 0.014410 0 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020938 33020938 + RNA SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:33020938G>T ENST00000565407.2 + 0 346 RP11-19N8.2_ENST00000567619.1_RNA p.V116L(1) GTATTACTGTGTGAAACACAC 0.577000 53 181 2.47907e-22 3.94667e-22 0.014410 1 0 GZMH 2999 broad.mit.edu 37 14 25075882 25075882 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr14:25075882C>T ENST00000216338.4 - 5 712 c.668G>A c.(667-669)gGg>gAg p.G223E GZMH_ENST00000557220.2_Missense_Mutation_p.G92E|GZMH_ENST00000382548.4_Missense_Mutation_p.G137E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA NM_033423.3 NP_219491.1 P20718 GRAH_HUMAN granzyme H (cathepsin G-like 2, protein h-CCPX) 223 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity p.G223E(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) TGGAGGTGTCCCTTTTTTGTT 0.517000 32 112 0 0 0.009535 0 0 PCDH8 5100 broad.mit.edu 37 13 53418865 53418865 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr13:53418865G>T ENST00000377942.3 - 3 3246 c.3043C>A c.(3043-3045)Cag>Aag p.Q1015K PCDH8_ENST00000338862.4_Missense_Mutation_p.Q918K NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 1015 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding p.Q1015K(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TAGACGCTCTGCAGCCCCACT 0.582000 21 106 1.96292e-10 2.60414e-10 0.010504 1 0 CSMD2 114784 broad.mit.edu 37 1 34006261 34006261 + Silent SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:34006261C>T ENST00000373381.4 - 60 9671 c.9495G>A c.(9493-9495)ggG>ggA p.G3165G NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3139 Sushi 25. integral to membrane|plasma membrane protein binding p.G3021G(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCACCACCTTCCCATTGGGGA 0.602000 27 88 0 0 0.027356 0 0 OSBP 5007 broad.mit.edu 37 11 59376080 59376080 + Silent SNP T T A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:59376080T>A ENST00000263847.1 - 3 1178 c.699A>T c.(697-699)acA>acT p.T233T NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 233 lipid transport Golgi membrane oxysterol binding p.T233T(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GCTGCAGAGCTGTGCCATGCT 0.498000 22 77 0 0 0.010504 0 0 TNKS2 80351 broad.mit.edu 37 10 93621874 93621874 + Missense_Mutation SNP C C G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr10:93621874C>G ENST00000371627.4 + 26 3779 c.3400C>G c.(3400-3402)Cta>Gta p.L1134V NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 1134 PARP catalytic. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding p.L1134V(1) biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) TGTAAATGGCCTAGCATTAGC 0.398000 6 48 0 0 0.029380 0 0 CD22 933 broad.mit.edu 37 19 35829190 35829190 + Missense_Mutation SNP A A C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr19:35829190A>C ENST00000085219.5 + 6 1171 c.1105A>C c.(1105-1107)Aat>Cat p.N369H CD22_ENST00000419549.2_Missense_Mutation_p.N197H|CD22_ENST00000270311.6_Missense_Mutation_p.N249H|CD22_ENST00000536635.2_Intron|CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.N369H|CD22_ENST00000594250.1_Intron NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 369 Ig-like C2-type 3. cell adhesion protein binding|sugar binding p.N369H(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) GTGGTACCACAATGGGAAAGA 0.502000 25 79 0 0 0.027356 0 0 PRKX 5613 broad.mit.edu 37 X 3573373 3573373 + Missense_Mutation SNP C C A rs145956134 TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chrX:3573373C>A ENST00000262848.5 - 3 770 c.416G>T c.(415-417)cGc>cTc p.R139L PRKX_ENST00000425240.1_5'UTR NM_005044.4 NP_005035.1 P51817 PRKX_HUMAN protein kinase, X-linked 139 Protein kinase. ATP binding|cAMP-dependent protein kinase activity p.R139L(1) kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2) 12 all_lung(23;0.000396)|Lung NSC(23;0.00123) CCCCCGGTTGCGCAGGTAGCT 0.602000 25 17 2.61193e-14 3.76648e-14 0.009535 1 0 PADI4 23569 broad.mit.edu 37 1 17668890 17668890 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:17668890G>A ENST00000375448.4 + 8 954 c.928G>A c.(928-930)Gcg>Acg p.A310T AC004824.2_ENST00000602074.1_Intron NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 310 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity p.A310T(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GGAGGTGTACGCGTGCAGGTG 0.627000 8 21 0 0 0.003080 0 0 FAT3 120114 broad.mit.edu 37 11 92531077 92531077 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:92531077C>A ENST00000298047.6 + 9 4915 c.4898C>A c.(4897-4899)aCg>aAg p.T1633K FAT3_ENST00000409404.2_Missense_Mutation_p.T1633K|FAT3_ENST00000525166.1_Missense_Mutation_p.T1483K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1633 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.T1633K(2) 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) GACATGACGACGATGGGTCAG 0.458000 TCGA Ovarian(4;0.039) 20 69 1.15919e-05 1.34899e-05 0.008871 1 0 FAM46A 55603 broad.mit.edu 37 6 82461603 82461603 + Missense_Mutation SNP C C G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr6:82461603C>G ENST00000369754.3 - 2 625 c.313G>C c.(313-315)Ggg>Cgg p.G105R FAM46A_ENST00000369756.3_Missense_Mutation_p.G167R|FAM46A_ENST00000320172.6_Missense_Mutation_p.G86R Q96IP4 FA46A_HUMAN family with sequence similarity 46, member A 86 p.G86R(1) endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) TTGCCGCGCCCGTGAATCGGA 0.652000 6 70 0 0 0.003080 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454982 84454982 + Missense_Mutation SNP G G C TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr13:84454982G>C ENST00000377084.2 - 1 1546 c.661C>G c.(661-663)Ctc>Gtc p.L221V NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 221 LRRCT 1. integral to membrane p.L221V(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TTCAGGGAGAGCAGATCACAG 0.542000 11 55 0 0 0.010729 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 53 0 0 0.014758 0 0 RP1L1 94137 broad.mit.edu 37 8 10465434 10465434 + Silent SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr8:10465434C>T ENST00000382483.3 - 4 6397 c.6174G>A c.(6172-6174)ccG>ccA p.P2058P NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2058 intracellular signal transduction p.P2058P(1) 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) CTTCTGCCTCCGGGGCCTCTA 0.617000 59 183 0 0 0.014410 0 0 TRPC1 7220 broad.mit.edu 37 3 142496497 142496497 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr3:142496497G>A ENST00000273482.6 + 4 945 c.554G>A c.(553-555)tGt>tAt p.C185Y TRPC1_ENST00000476941.1_Missense_Mutation_p.C219Y NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 219 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity p.C185Y(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 ATATATCGATGTTTGGCCAGT 0.313000 16 48 0 0 0.006122 0 0 CTSZ 1522 broad.mit.edu 37 20 57576645 57576645 + Missense_Mutation SNP T T A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr20:57576645T>A ENST00000217131.5 - 3 480 c.362A>T c.(361-363)cAg>cTg p.Q121L NM_001336.3 NP_001327.2 Q9UBR2 CATZ_HUMAN cathepsin Z 121 proteolysis endoplasmic reticulum|extracellular space|lysosome cysteine-type endopeptidase activity p.Q121L(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 10 all_lung(29;0.00711) Colorectal(105;0.109) GATGACGTTCTGCACGGACAG 0.612000 20 47 0 0 0.008871 0 0 LSS 4047 broad.mit.edu 37 21 47642573 47642573 + Silent SNP T T A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr21:47642573T>A ENST00000397728.3 - 4 477 c.399A>T c.(397-399)tcA>tcT p.S133S LSS_ENST00000522411.1_Intron|LSS_ENST00000356396.4_Silent_p.S133S|LSS_ENST00000457828.2_Silent_p.S53S|LSS_ENST00000464357.1_5'UTR NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 133 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity p.V134L(1) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) GGAGCTGCACTGACCGCAGGT 0.587000 3 38 0 0 0.004672 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871865 51871865 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr20:51871865C>A ENST00000371497.5 + 2 2755 c.1868C>A c.(1867-1869)gCc>gAc p.A623D TSHZ2_ENST00000329613.6_Missense_Mutation_p.A620D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A620D NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 623 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A623D(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CACGAAGAGGCCTCATCTTTC 0.522000 24 110 4.4004e-07 5.33951e-07 0.018920 1 0 FBXO22 26263 broad.mit.edu 37 15 76222283 76222283 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:76222283G>T ENST00000308275.3 + 6 792 c.687G>T c.(685-687)aaG>aaT p.K229N FBXO22_ENST00000540507.1_Missense_Mutation_p.K125N|FBXO22_ENST00000453211.2_Missense_Mutation_p.K229N NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 229 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity p.K229N(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 ATTGCTGTAAGGTGGGAGCCA 0.428000 24 103 5.45024e-15 7.97498e-15 0.018920 1 0 PARD3 56288 broad.mit.edu 37 10 34400444 34400444 + Nonsense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr10:34400444G>A ENST00000374789.3 - 25 4049 c.3724C>T c.(3724-3726)Cag>Tag p.Q1242* PARD3_ENST00000545260.1_Nonsense_Mutation_p.Q1152*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.Q1205*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.Q1196*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.Q1130*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.Q1239*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.Q1226*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.Q1182* NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1242 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding p.Q1242*(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GAGTAGTTCTGCTCCCAAGAG 0.557000 21 60 0 0 0.018920 0 0 CUL7 9820 broad.mit.edu 37 6 43017790 43017790 + Missense_Mutation SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr6:43017790A>G ENST00000535468.1 - 6 1818 c.1732T>C c.(1732-1734)Tgg>Cgg p.W578R CUL7_ENST00000265348.3_Missense_Mutation_p.W494R NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 494 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding p.W494R(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) AGTTCCCACCACTCAGCCAGG 0.562000 34 91 0 0 0.017118 0 0 NMT1 4836 broad.mit.edu 37 17 43175846 43175846 + Silent SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr17:43175846G>T ENST00000592782.1 + 8 941 c.810G>T c.(808-810)cgG>cgT p.R270R NMT1_ENST00000258960.2_Silent_p.R270R P30419 NMT1_HUMAN N-myristoyltransferase 1 270 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity p.R270L(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) TCACCAGGCGGGTTCACCTGG 0.532000 32 113 5.8336e-16 8.7946e-16 0.015359 1 0 PPARG 5468 broad.mit.edu 37 3 12458450 12458450 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr3:12458450C>A ENST00000397026.2 + 8 1384 c.1001C>A c.(1000-1002)aCa>aAa p.T334K PPARG_ENST00000397010.2_Missense_Mutation_p.T328K|PPARG_ENST00000309576.6_Missense_Mutation_p.T328K|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397012.2_Missense_Mutation_p.T328K|PPARG_ENST00000397015.2_Missense_Mutation_p.T328K|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000287820.6_Missense_Mutation_p.T356K P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 356 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.T356K(1) PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) ATCATTTACACAATGCTGGCC 0.443000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 9 45 0.00621372 0.00664801 0.006214 1 0 IRF7 3665 broad.mit.edu 37 11 614252 614252 + Missense_Mutation SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:614252A>G ENST00000397566.1 - 4 1049 c.640T>C c.(640-642)Tgg>Cgg p.W214R IRF7_ENST00000397574.2_Missense_Mutation_p.W201R|IRF7_ENST00000348655.6_Missense_Mutation_p.W201R|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000397570.1_Missense_Mutation_p.W201R|IRF7_ENST00000330243.5_Missense_Mutation_p.W214R|IRF7_ENST00000525445.1_Missense_Mutation_p.W95R NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 201 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.W214R(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCTGCCCCCCATGACGCTGTC 0.677000 11 18 0 0 0.008291 0 0 HMGB4 127540 broad.mit.edu 37 1 34330081 34330081 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:34330081C>T ENST00000522796.1 + 4 2194 c.289C>T c.(289-291)Cca>Tca p.P97S HMGB4_ENST00000519684.1_Missense_Mutation_p.P97S|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR B2R4X7 B2R4X7_HUMAN high mobility group box 4 97 nucleus DNA binding p.P97S(1) NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CAGACGGCCTCCATCATCCTT 0.542000 26 131 0 0 0.024334 0 0 OR2C3 81472 broad.mit.edu 37 1 247695442 247695442 + Silent SNP G G A rs148160393 byFrequency TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:247695442G>A ENST00000366487.3 - 2 733 c.372C>T c.(370-372)taC>taT p.Y124Y GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y123Y(1) breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-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) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGATGGCAGCGTAGCGGTCAT 0.562000 4 32 0 0 0.009096 0 0 SLC30A6 55676 broad.mit.edu 37 2 32422894 32422894 + Splice_Site SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr2:32422894A>G ENST00000282587.5 + 10 701 c.665_splice c.e10+1 p.N222_splice SLC30A6_ENST00000538303.1_Splice_Site_p.N193_splice|SLC30A6_ENST00000435660.1_Splice_Site_p.N222_splice|SLC30A6_ENST00000406369.1_Splice_Site_p.N148_splice|SLC30A6_ENST00000379343.2_Splice_Site_p.N262_splice|SLC30A6_ENST00000357055.3_Splice_Site_p.N25_splice NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 222 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity p.N222D(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CATTGAAATTAAGTGAGTATT 0.373000 17 55 0 0 0.006122 0 0 ACAN 176 broad.mit.edu 37 15 89382102 89382102 + Silent SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:89382102C>A ENST00000439576.2 + 3 653 c.279C>A c.(277-279)cgC>cgA p.R93R ACAN_ENST00000558207.1_Silent_p.R93R|ACAN_ENST00000352105.7_Silent_p.R93R|ACAN_ENST00000561243.1_Silent_p.R93R|ACAN_ENST00000559004.1_Silent_p.R93R NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 93 cell adhesion hyaluronic acid binding|sugar binding p.R93R(2) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGAAGGGCGCGTGCGGGTCA 0.622000 25 78 2.41591e-17 3.6982e-17 0.024334 1 0 TMC5 79838 broad.mit.edu 37 16 19451967 19451967 + Nonsense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:19451967G>T ENST00000396229.2 + 3 1356 c.607G>T c.(607-609)Gga>Tga p.G203* TMC5_ENST00000381414.4_Nonsense_Mutation_p.G203*|TMC5_ENST00000542583.2_Nonsense_Mutation_p.G203*|TMC5_ENST00000541464.1_Nonsense_Mutation_p.G203* NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 203 integral to membrane p.G203*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AGACTCTCTGGGAAAGCCTGA 0.473000 29 87 5.60225e-13 7.85104e-13 0.009535 1 0 PLXNA2 5362 broad.mit.edu 37 1 208216417 208216417 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:208216417G>A ENST00000367033.3 - 21 4763 c.4006C>T c.(4006-4008)Cgg>Tgg p.R1336W NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1336 axon guidance integral to membrane|intracellular|plasma membrane p.R1336W(1) 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) TCCAGCTCCCGCAGGACGGGG 0.607000 25 40 0 0 0.009535 0 0 SPG7 6687 broad.mit.edu 37 16 89603223 89603223 + Nonsense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:89603223G>T ENST00000341316.2 + 10 1382 c.1375G>T c.(1375-1377)Gga>Tga p.G459* SPG7_ENST00000268704.2_Intron NM_199367.1 NP_955399.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 339 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding p.G459*(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GAAGCTCAGAGGAAAGACCCC 0.597000 21 242 4.35082e-09 5.47983e-09 0.010504 1 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 5 267 0 0 0.021553 0 0 SAMSN1 64092 broad.mit.edu 37 21 15889331 15889331 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr21:15889331C>A ENST00000285670.2 - 4 539 c.365G>T c.(364-366)gGa>gTa p.G122V SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.G54V NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 54 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding p.G54E(1)|p.G54V(1)|p.G122V(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) ACTTTGTTCTCCACTTCCATT 0.318000 6 34 3.59834e-05 4.13913e-05 0.021553 1 0 F2 2147 broad.mit.edu 37 11 46748375 46748375 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:46748375G>A ENST00000311907.5 + 9 1174 c.1118G>A c.(1117-1119)gGc>gAc p.G373D F2_ENST00000530231.1_Missense_Mutation_p.G373D NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 373 Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity p.G373D(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GCAGAGATCGGCATGTCACCT 0.617000 4 111 0 0 0.021553 0 0 BBS7 55212 broad.mit.edu 37 4 122774156 122774156 + Silent SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr4:122774156C>T ENST00000264499.4 - 8 987 c.804G>A c.(802-804)gtG>gtA p.V268V BBS7_ENST00000506636.1_Silent_p.V268V NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 268 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding p.V268V(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 CAAAACTATACACTTCCACCA 0.318000 Bardet-Biedl syndrome 9 20 0 0 0.004482 0 0 RYR3 6263 broad.mit.edu 37 15 33962735 33962735 + Silent SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:33962735G>A ENST00000389232.4 + 38 5908 c.5838G>A c.(5836-5838)acG>acA p.T1946T RYR3_ENST00000415757.3_Silent_p.T1946T NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1946 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.T1946T(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGCAGCCGACGGAGGAGGAGG 0.453000 5 98 0 0 0.003080 0 0 ISL1 3670 broad.mit.edu 37 5 50683340 50683340 + Missense_Mutation SNP T T A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr5:50683340T>A ENST00000230658.7 + 3 820 c.235T>A c.(235-237)Tgc>Agc p.C79S ISL1_ENST00000511384.1_Missense_Mutation_p.C79S|ISL1_ENST00000505475.2_3'UTR NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 79 LIM zinc-binding 2. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.C79S(1) 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) CGGGATCAAATGCGCCAAGTG 0.627000 6 12 0 0 0.021553 0 0 PNPLA3 80339 broad.mit.edu 37 22 44328953 44328953 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr22:44328953C>T ENST00000216180.3 + 4 855 c.682C>T c.(682-684)Ccc>Tcc p.P228S PNPLA3_ENST00000423180.2_Missense_Mutation_p.P224S|PNPLA3_ENST00000478713.1_3'UTR NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 228 triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity p.P228S(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) AGCTTTTGTCCCCCCGGATCT 0.547000 38 86 0 0 0.036044 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100390 27100390 + Missense_Mutation SNP T T G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr6:27100390T>G ENST00000607124.1 - 1 139 c.140A>C c.(139-141)aAg>aCg p.K47T HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K47T|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K47T P06899 H2B1J_HUMAN histone cluster 1, H2bj 47 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding p.K47T(1) breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 GTGGACCTGCTTCAGAACCTT 0.552000 5 260 0 0 0.021553 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725310 140725310 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr5:140725310C>A ENST00000253812.6 + 1 1710 c.1710C>A c.(1708-1710)gaC>gaA p.D570E PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.D570D(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCACAGACGGTTCCACTG 0.672000 11 192 4.14922e-12 5.73399e-12 0.028581 1 0 KIF5A 3798 broad.mit.edu 37 12 57974844 57974844 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr12:57974844G>A ENST00000455537.2 + 24 2918 c.2644G>A c.(2644-2646)Gcc>Acc p.A882T KIF5A_ENST00000286452.5_Missense_Mutation_p.A793T NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 882 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity p.A882T(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 ACTGAAGGAGGCCAAGGAGGG 0.577000 11 20 0 0 0.010729 0 0 CHKB 1120 broad.mit.edu 37 22 51020255 51020255 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr22:51020255C>A ENST00000406938.2 - 3 587 c.370G>T c.(370-372)Gcc>Tcc p.A124S CHKB_ENST00000463053.1_5'UTR NM_005198.4 NP_005189.2 Q9Y259 CHKB_HUMAN choline kinase beta 124 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity p.A124S(1) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1) 15 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) GCAAGTATGGCGAACATCACG 0.612000 20 65 5.26018e-13 7.42394e-13 0.012319 1 0 WDR89 112840 broad.mit.edu 37 14 64066555 64066555 + Nonsense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr14:64066555G>A ENST00000394942.2 - 2 194 c.106C>T c.(106-108)Caa>Taa p.Q36* WDR89_ENST00000267522.3_Nonsense_Mutation_p.Q36* NM_001008726.2|NM_001258272.1|NM_080666.3 NP_001008726.1|NP_001245201.1|NP_542397.1 Q96FK6 WDR89_HUMAN WD repeat domain 89 36 p.Q36*(1) endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101) TTTCCTGCTTGGACAGTCTTT 0.348000 8 117 0 0 0.006214 0 0 NLRP7 199713 broad.mit.edu 37 19 55445884 55445884 + Missense_Mutation SNP C C A rs150034626 byFrequency TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr19:55445884C>A ENST00000588756.1 - 9 2930 c.2444G>T c.(2443-2445)cGc>cTc p.R815L NLRP7_ENST00000340844.2_Missense_Mutation_p.R815L|NLRP7_ENST00000590030.1_Missense_Mutation_p.R815L|NLRP7_ENST00000328092.5_Missense_Mutation_p.R787L|NLRP7_ENST00000592784.1_Missense_Mutation_p.R815L|NLRP7_ENST00000448121.2_Missense_Mutation_p.R787L|NLRP7_ENST00000446217.1_Missense_Mutation_p.R843L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 815 ATP binding p.R815L(1)|p.R787L(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GTGTTTTGGGCGTGTCATGGT 0.512000 28 97 6.07407e-21 9.51764e-21 0.034045 1 0 FGF23 8074 broad.mit.edu 37 12 4479687 4479687 + Missense_Mutation SNP A A T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr12:4479687A>T ENST00000237837.1 - 3 723 c.578T>A c.(577-579)cTg>cAg p.L193Q NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 193 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity p.L193Q(1) NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CCGGGGCTTCAGCACGTTCAG 0.682000 4 36 0 0 0.009096 0 0 TNNI3 7137 broad.mit.edu 37 19 55666180 55666180 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr19:55666180G>A ENST00000344887.5 - 6 443 c.301C>T c.(301-303)Cac>Tac p.H101Y CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000588882.1_Missense_Mutation_p.H76Y|TNNI3_ENST00000590463.1_5'UTR NM_000363.4 NP_000354.4 P19429 TNNI3_HUMAN troponin I type 3 (cardiac) 101 cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding p.H101Y(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) ACACGGGCGTGGAGCTGTCGG 0.572000 10 28 0 0 0.006214 0 0 DST 667 broad.mit.edu 37 6 56418066 56418066 + Missense_Mutation SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr6:56418066A>G ENST00000370754.5 - 61 15430 c.15431T>C c.(15430-15432)gTa>gCa p.V5144A DST_ENST00000370788.2_Missense_Mutation_p.V2878A|DST_ENST00000244364.6_Missense_Mutation_p.V2552A|DST_ENST00000361203.3_Missense_Mutation_p.V4964A|DST_ENST00000446842.2_Missense_Mutation_p.V4640A|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.V4966A|DST_ENST00000421834.2_Missense_Mutation_p.V2878A Q03001 DYST_HUMAN dystonin 4964 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 p.V4966A(1)|p.V2552A(1) 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) GAGAGTCTCTACTTGCTCTTT 0.358000 17 213 0 0 0.008871 0 0 PIGB 9488 broad.mit.edu 37 15 55611459 55611459 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:55611459C>A ENST00000164305.5 + 1 302 c.11C>A c.(10-12)cCc>cAc p.P4H PIGB_ENST00000539642.1_5'UTR|PIGB_ENST00000569909.1_3'UTR NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 4 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity p.P4H(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) ATGAGGAGGCCCCTAAGCAAG 0.592000 3 19 0.00909568 0.00962787 0.009096 1 0 SQSTM1 8878 broad.mit.edu 37 5 179260106 179260106 + Missense_Mutation SNP A A G TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr5:179260106A>G ENST00000389805.4 + 6 1007 c.829A>G c.(829-831)Agc>Ggc p.S277G SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193G|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193G|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277G|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193G NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 277 Interaction with NTRK1 (By similarity).|Ser-rich. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding p.S277G(1) SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAGAGTTCCAGCACAGAGGA 0.597000 13 53 0 0 0.024245 0 0 XAB2 56949 broad.mit.edu 37 19 7687539 7687539 + Silent SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr19:7687539C>A ENST00000358368.4 - 11 1417 c.1380G>T c.(1378-1380)acG>acT p.T460T XAB2_ENST00000534844.1_Silent_p.T457T NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 460 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding p.T457T(1) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 CAGGCAGCGCCGTGGCCTTCT 0.682000 Direct reversal of damage;Nucleotide excision repair (NER) 19 50 2.4624e-09 3.12113e-09 0.008871 1 0 NRXN3 9369 broad.mit.edu 37 14 80130126 80130126 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr14:80130126G>T ENST00000281127.7 + 3 1314 c.435G>T c.(433-435)caG>caT p.Q145H NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.Q145H|NRXN3_ENST00000335750.5_Missense_Mutation_p.Q777H|NRXN3_ENST00000554719.1_Missense_Mutation_p.Q777H|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000557594.1_Missense_Mutation_p.Q145H NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 145 Laminin G-like. angiogenesis|cell adhesion integral to membrane p.Q145H(1)|p.Q777H(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TATAGGAACAGGGGAAAATTG 0.423000 5 22 0.0215528 0.0224555 0.021553 1 0 TM2D3 80213 broad.mit.edu 37 15 102191956 102191956 + Nonsense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:102191956G>A ENST00000333202.3 - 2 117 c.112C>T c.(112-114)Cag>Tag p.Q38* TM2D3_ENST00000559107.1_Nonsense_Mutation_p.Q38*|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000347970.3_Intron NM_078474.2 NP_510883.2 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 38 integral to membrane p.Q38*(1) 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) TTTATTGACTGAGCCAGCGCC 0.448000 13 180 0 0 0.028581 0 0 CYP4V2 285440 broad.mit.edu 37 4 187130126 187130126 + Missense_Mutation SNP C C T rs138444697 TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr4:187130126C>T ENST00000378802.4 + 9 1502 c.1198C>T c.(1198-1200)Cgt>Tgt p.R400C CYP4V2_ENST00000502665.1_3'UTR NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 400 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen p.R400C(1)|p.R400S(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-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;0.0066)|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;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) TTTATTTGCCCGTAGTGTTAG 0.433000 13 119 0 0 0.020292 0 0 CCDC108 255101 broad.mit.edu 37 2 219873855 219873855 + Missense_Mutation SNP T T A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr2:219873855T>A ENST00000341552.5 - 29 4671 c.4588A>T c.(4588-4590)Agg>Tgg p.R1530W CCDC108_ENST00000453220.1_Missense_Mutation_p.R1530W|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1530W|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1530 integral to membrane structural molecule activity p.R1530W(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGATACTGCCTCATGAGCTGC 0.582000 11 32 0 0 0.016723 0 0 BRD9 65980 broad.mit.edu 37 5 865602 865602 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr5:865602C>A ENST00000323510.4 - 12 1331 c.1332G>T c.(1330-1332)gaG>gaT p.E444D BRD9_ENST00000483173.1_Missense_Mutation_p.E487D|BRD9_ENST00000388890.4_Missense_Mutation_p.E424D|BRD9_ENST00000467963.1_Missense_Mutation_p.E540D Q9H8M2 BRD9_HUMAN bromodomain containing 9 540 nucleic acid binding p.E444_R445>DC(1)|p.E540_R541>DC(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) AGCCGCCGCGCTCCGCCTGTG 0.642000 28 122 1.88708e-17 2.91108e-17 0.037714 1 0 PUS7L 83448 broad.mit.edu 37 12 44148626 44148626 + Silent SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr12:44148626G>A ENST00000416848.2 - 2 911 c.423C>T c.(421-423)gcC>gcT p.A141A PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Silent_p.A141A|PUS7L_ENST00000344862.5_Silent_p.A141A|PUS7L_ENST00000553166.1_Silent_p.A141A NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 141 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.A141A(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTACATCACAGGCAAAATTAT 0.368000 14 45 0 0 0.020292 0 0 CLPB 81570 broad.mit.edu 37 11 72006575 72006575 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr11:72006575C>A ENST00000294053.3 - 13 1710 c.1537G>T c.(1537-1539)Gct>Tct p.A513S CLPB_ENST00000437826.2_Missense_Mutation_p.A468S|CLPB_ENST00000538021.1_Missense_Mutation_p.A121S|CLPB_ENST00000340729.5_Missense_Mutation_p.A454S|CLPB_ENST00000543042.1_Missense_Mutation_p.A312S|CLPB_ENST00000538039.1_Missense_Mutation_p.A483S NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 513 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding p.A513S(1) endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 ATCTCCAAAGCTTCCTGCCTC 0.567000 12 34 1.49906e-05 1.73438e-05 0.020292 1 0 SLC36A2 153201 broad.mit.edu 37 5 150722498 150722498 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr5:150722498G>T ENST00000335244.4 - 4 520 c.391C>A c.(391-393)Cta>Ata p.L131I SLC36A2_ENST00000521967.1_Missense_Mutation_p.L131I NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 131 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity p.L131I(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGGCTTCTAGTCCATGCATC 0.512000 17 54 5.3912e-06 6.38601e-06 0.006122 1 0 FAM117B 150864 broad.mit.edu 37 2 203630353 203630353 + Silent SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr2:203630353C>T ENST00000303116.6 + 8 1646 c.904C>T c.(904-906)Ctg>Ttg p.L302L FAM117B_ENST00000392238.2_Silent_p.L546L NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 546 p.L302L(1)|p.L546L(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 GACAACCACTCTGCTGCAGCC 0.557000 19 73 0 0 0.008871 0 0 IKZF3 22806 broad.mit.edu 37 17 37944531 37944531 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr17:37944531C>A ENST00000346872.3 - 6 750 c.689G>T c.(688-690)aGc>aTc p.S230I IKZF3_ENST00000377958.2_Missense_Mutation_p.S143I|IKZF3_ENST00000535189.1_Missense_Mutation_p.S196I|IKZF3_ENST00000351680.3_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000377944.3_Missense_Mutation_p.S87I|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.S230I|IKZF3_ENST00000467757.1_Missense_Mutation_p.S174I|IKZF3_ENST00000346243.3_Intron NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 230 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S230I(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGGGTCAGTGCTCTGAAGAAA 0.483000 7 29 8.12818e-05 9.24291e-05 0.029380 1 0 HNRNPUL1 11100 broad.mit.edu 37 19 41807447 41807447 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr19:41807447G>T ENST00000392006.3 + 11 1698 c.1525G>T c.(1525-1527)Gtt>Ttt p.V509F HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.V509F|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.V395F|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.V420F|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.V409F|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.V409F|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.V409F NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 509 Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding p.V509F(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 TTAGACAAATGTTTATGGGTC 0.443000 36 120 6.53348e-20 1.01575e-19 0.017118 1 0 OR2B11 127623 broad.mit.edu 37 1 247615143 247615143 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:247615143C>T ENST00000318749.6 - 1 165 c.142G>A c.(142-144)Gcc>Acc p.A48T NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A48T(1) endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-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) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGGATGATGGCGACGTTCCCC 0.582000 40 126 0 0 0.025465 0 0 TTLL5 23093 broad.mit.edu 37 14 76231102 76231102 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr14:76231102G>T ENST00000298832.9 + 19 1900 c.1695G>T c.(1693-1695)agG>agT p.R565S TTLL5_ENST00000557636.1_Missense_Mutation_p.R579S|TTLL5_ENST00000554510.1_Missense_Mutation_p.R74S|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Missense_Mutation_p.R116S NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 565 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity p.R565S(1) NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) GGGCAATGAGGCCAAAATACC 0.498000 8 34 1.76689e-08 2.19757e-08 0.006214 1 0 CHKB 1120 broad.mit.edu 37 22 51021107 51021107 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr22:51021107C>T ENST00000406938.2 - 1 321 c.104G>A c.(103-105)cGg>cAg p.R35Q CHKB_ENST00000463053.1_Intron NM_005198.4 NP_005189.2 Q9Y259 CHKB_HUMAN choline kinase beta 35 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity p.R35Q(1) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1) 15 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) GGCGCGCCGCCGTTTTGGGGT 0.711000 5 10 0 0 0.014758 0 0 CDH8 1006 broad.mit.edu 37 16 61687897 61687897 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr16:61687897C>T ENST00000577390.1 - 12 2969 c.2015G>A c.(2014-2016)gGa>gAa p.G672E CDH8_ENST00000299345.6_Missense_Mutation_p.G672E|CDH8_ENST00000577730.1_Missense_Mutation_p.G672E NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 672 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G672E(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTCCTCCCCTCCTCCTTCATC 0.398000 36 169 0 0 0.030466 0 0 SSPO 23145 broad.mit.edu 37 7 149480000 149480000 + RNA SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr7:149480000C>T ENST00000378016.2 + 0 1966 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTCAGTGTGCGCCGAGCTTC 0.662000 5 34 0 0 0.021553 0 0 RYR2 6262 broad.mit.edu 37 1 237765338 237765338 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:237765338C>A ENST00000366574.2 + 35 4927 c.4610C>A c.(4609-4611)aCa>aAa p.T1537K RYR2_ENST00000360064.6_Missense_Mutation_p.T1535K|RYR2_ENST00000542537.1_Missense_Mutation_p.T1521K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1537 4 X approximate repeats.|B30.2/SPRY 3. 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 p.T1535K(1) 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) GAACCGAGTACAAAATTATTT 0.308000 8 29 0.000442599 0.000494816 0.006214 1 0 APBA2 321 broad.mit.edu 37 15 29390729 29390729 + Missense_Mutation SNP G G T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr15:29390729G>T ENST00000558402.1 + 10 1887 c.1288G>T c.(1288-1290)Gac>Tac p.D430Y APBA2_ENST00000561069.1_Missense_Mutation_p.D430Y|APBA2_ENST00000558330.1_Missense_Mutation_p.D418Y|APBA2_ENST00000411764.1_Missense_Mutation_p.D418Y|APBA2_ENST00000558259.1_Missense_Mutation_p.D430Y Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 430 PID. nervous system development|protein transport protein binding p.D430Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GACGGAAGTGGACCTCTTCAT 0.438000 17 54 8.28177e-16 1.23915e-15 0.007413 1 0 SYT6 148281 broad.mit.edu 37 1 114680333 114680333 + Silent SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:114680333C>A ENST00000393296.1 - 3 932 c.855G>T c.(853-855)gtG>gtT p.V285V SYT6_ENST00000369547.1_Silent_p.V200V Q5T7P8 SYT6_HUMAN synaptotagmin VI 285 C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity p.V200V(1) central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTGCGGTGCACCCGGGTCT 0.552000 20 40 6.44725e-10 8.38564e-10 0.014323 1 0 ZNF804B 219578 broad.mit.edu 37 7 88964342 88964342 + Silent SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr7:88964342C>A ENST00000333190.4 + 4 2655 c.2046C>A c.(2044-2046)atC>atA p.I682I NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 682 intracellular zinc ion binding p.I682I(1) 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) GTAACCACATCAGCATGACCA 0.433000 HNSCC(36;0.09) 14 45 6.72482e-11 9.04216e-11 0.024245 1 0 SEC16B 89866 broad.mit.edu 37 1 177901694 177901694 + Frame_Shift_Del DEL T T - TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr1:177901694delT ENST00000308284.6 - 24 3032 c.2943delA c.(2941-2943)gafs p.E981fs SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 981 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 ATCCTCGGCCTTCACCCCCAC 0.662 2 4 --- --- --- --- TTC7A 57217 broad.mit.edu 37 2 47233194 47233195 + Frame_Shift_Del DEL CG CG - rs142616749 TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr2:47233194_47233195delCG ENST00000319190.5 + 9 1567_1568 c.1199_1200delCG c.(1198-1200)tfs p.S400fs TTC7A_ENST00000394850.2_Frame_Shift_Del_p.S400fs|TTC7A_ENST00000263737.6_Frame_Shift_Del_p.S46fs|TTC7A_ENST00000409245.1_Frame_Shift_Del_p.S366fs|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 400 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GTCATGCTCTCGGAGGTACGGC 0.584 11 65 --- --- --- --- ALMS1 7840 broad.mit.edu 37 2 73676086 73676093 + Frame_Shift_Del DEL ACTCACAC ACTCACAC - TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr2:73676086_73676093delACTCACAC ENST00000264448.6 + 8 2540_2547 c.2429_2436delACTCACAC c.(2428-2436)tfs p.YSH810fs ALMS1_ENST00000377715.1_Frame_Shift_Del_p.YSH810fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.YSH768fs NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 810 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 TCTAGTGCATACTCACACAGAGAGAAGC 0.505 32 122 --- --- --- --- LINC00698 285401 broad.mit.edu 37 3 63083118 63083119 + RNA INS - - T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr3:63083118_63083119insT ENST00000468072.1 + 0 125 NR_027104.1 GGAGGCTCCACTTGGTCTCCAG 0.559 23 144 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 2 4 --- --- --- --- OSTCP1 202459 broad.mit.edu 37 6 159262512 159262512 + RNA DEL A A - TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr6:159262512delA ENST00000522287.1 - 0 831 NR_028496.1 TCAGCAGGGGAAAAAAAAATA 0.328 2 4 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 5 5 --- --- --- --- LAMC3 10319 broad.mit.edu 37 9 133946977 133946977 + Frame_Shift_Del DEL G G - TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr9:133946977delG ENST00000361069.4 + 18 3309 c.3176delG c.(3175-3177)agfs p.R1059fs LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1059 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GAGGCCCCAAGGGGGGACGTC 0.657 16 65 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 4 2 --- --- --- --- PPIAP14 5486 broad.mit.edu 37 18 5002846 5002846 + RNA DEL C C - TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr18:5002846delC ENST00000584204.1 - 0 243 GTCATGCCTTCTTTCACCTTG 0.473 20 58 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 37248431 37248454 + RNA DEL AGGGAGGAAGGAAGGAAGGAAGGA AGGGAGGAAGGAAGGAAGGAAGGA - rs141334489 by1000genomes TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr18:37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA ENST00000591629.1 - 0 282 NR_024391.1 ggagggagggagggaggaaggaaggaaggaaggaaggaaggaag 0.402 3 6 --- --- --- --- DOT1L 84444 broad.mit.edu 37 19 2213544 2213544 + Frame_Shift_Del DEL A A - TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c71b66b-813f-472b-b866-b34b5b9199e7 2011ef98-2f99-44e0-a561-e14eb6f2d1f8 g.chr19:2213544delA ENST00000398665.3 + 17 1600 c.1564delA c.(1564-1566)acfs p.N522fs AC004490.1_ENST00000585593.1_RNA NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 522 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) ACAGGAGAAGAACGCCCAGCT 0.607 22 54 --- --- --- ---