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 OLFML2B 25903 broad.mit.edu 37 1 161953940 161953940 + Missense_Mutation SNP C C T rs148462010 TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:161953940C>T ENST00000294794.3 - 8 2201 c.1778G>A c.(1777-1779)cGc>cAc p.R593H OLFML2B_ENST00000367938.1_Missense_Mutation_p.R76H|OLFML2B_ENST00000367940.2_Missense_Mutation_p.R594H NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 593 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) AGCCACGTAGCGCTGCTTCAG 0.612000 13 54 0 0 0.479597 0 0 ZNF645 158506 broad.mit.edu 37 X 22291956 22291956 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chrX:22291956C>T ENST00000323684.1 + 1 892 c.848C>T c.(847-849)gCg>gTg p.A283V NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 283 Pro-rich. intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 CAGCATTATGCGCCACCTCCA 0.478000 49 159 0 0 0.870114 0 0 ZNF331 55422 broad.mit.edu 37 19 54080056 54080056 + Missense_Mutation SNP G G A rs142196434 TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr19:54080056G>A ENST00000253144.9 + 7 1575 c.242G>A c.(241-243)cGt>cAt p.R81H ZNF331_ENST00000411977.2_Missense_Mutation_p.R81H|ZNF331_ENST00000449416.1_Missense_Mutation_p.R81H|ZNF331_ENST00000511154.1_Missense_Mutation_p.R81H|ZNF331_ENST00000513265.1_Missense_Mutation_p.R81H|ZNF331_ENST00000512387.1_Missense_Mutation_p.R81H|ZNF331_ENST00000511593.2_Missense_Mutation_p.R81H|ZNF331_ENST00000513999.1_Missense_Mutation_p.R81H NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TCCCTTGGCCGTAACTGGATA 0.393000 T ? follicular thyroid adenoma 3 52 0 0 0.150653 0 0 SMAD4 4089 broad.mit.edu 37 18 48584593 48584593 + Nonsense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr18:48584593C>T ENST00000342988.3 + 6 1304 c.766C>T c.(766-768)Cag>Tag p.Q256* SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q256* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 256 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.Q256*(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) ATTTACTGGTCAGCCAGCTAC 0.428000 4 48 0 0 0.150653 0 0 NUP210L 91181 broad.mit.edu 37 1 153973372 153973372 + Silent SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:153973372C>T ENST00000368559.3 - 37 5417 c.5346G>A c.(5344-5346)gaG>gaA p.E1782E NUP210L_ENST00000368553.1_Intron|NUP210L_ENST00000271854.3_Intron NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1782 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CTACCACTGCCTCACTTTGAC 0.403000 14 210 0 0 0.457914 0 0 FRG1B 284802 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 5 135 0 0 0.184627 0 0 RAF1 5894 broad.mit.edu 37 3 12626023 12626023 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr3:12626023G>A ENST00000251849.4 - 17 2376 c.1937C>T c.(1936-1938)cCt>cTt p.P646L RAF1_ENST00000442415.2_Missense_Mutation_p.P666L|RAF1_ENST00000542177.1_Missense_Mutation_p.P565L|RAF1_ENST00000534997.1_Missense_Mutation_p.P431L NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 646 activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) CTAGAAGACAGGCAGCCTCGG 0.582000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 22 81 0 0 0.654019 0 0 ZNFX1 57169 broad.mit.edu 37 20 47887190 47887190 + Missense_Mutation SNP C C G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr20:47887190C>G ENST00000396105.1 - 3 1405 c.1159G>C c.(1159-1161)Ggt>Cgt p.G387R ZNFX1_ENST00000371754.4_Missense_Mutation_p.G387R|ZNFX1_ENST00000371752.1_Missense_Mutation_p.G387R NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 387 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCCAAAATACCTTCCCGTAAA 0.463000 18 88 0 0 0.520397 0 0 SPATA20 64847 broad.mit.edu 37 17 48626442 48626442 + Missense_Mutation SNP G G T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr17:48626442G>T ENST00000006658.6 + 6 675 c.555G>T c.(553-555)tgG>tgT p.W185C SPATA20_ENST00000393244.3_Missense_Mutation_p.W125C|SPATA20_ENST00000356488.4_Missense_Mutation_p.W169C|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 169 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) TGAATGTGTGGCTGACTCCCA 0.642000 14 69 1.05317e-09 1.2021e-09 0.457914 1 0 BCRP7 100133163 broad.mit.edu 37 22 18846113 18846113 + RNA SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr22:18846113C>T ENST00000412938.1 + 0 3471 ATCTCCTCCACGCACTGGCGC 0.612000 3 53 0 0 0.115264 0 0 TCERG1 10915 broad.mit.edu 37 5 145849135 145849135 + Silent SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr5:145849135C>T ENST00000296702.5 + 7 1265 c.1227C>T c.(1225-1227)atC>atT p.I409I TCERG1_ENST00000394421.2_Silent_p.I388I NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 409 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCTCCTATCGTACCCATGA 0.388000 98 305 0 0 0.870114 0 0 OR51F2 119694 broad.mit.edu 37 11 4843482 4843482 + Silent SNP C C A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr11:4843482C>A ENST00000322110.5 + 1 932 c.867C>A c.(865-867)atC>atA p.I289I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCACATCATCATGGCCAATG 0.433000 7 123 0.0381472 0.0395471 0.278610 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 48 0 0 0.184627 0 0 PPARD 5467 broad.mit.edu 37 6 35392297 35392297 + Silent SNP C C G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr6:35392297C>G ENST00000311565.4 + 8 1168 c.819C>G c.(817-819)ctC>ctG p.L273L PPARD_ENST00000337400.2_Silent_p.L273L|PPARD_ENST00000418635.2_Silent_p.L175L|PPARD_ENST00000360694.3_Silent_p.L273L|PPARD_ENST00000540939.1_Silent_p.L170L|PPARD_ENST00000444397.1_Silent_p.L273L|PPARD_ENST00000448077.2_Silent_p.L234L NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 273 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) TCAGCAGCCTCTTCCTCAACG 0.592000 4 64 0 0 0.184627 0 0 ADCY8 114 broad.mit.edu 37 8 131797655 131797655 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr8:131797655C>T ENST00000286355.5 - 16 5219 c.3127G>A c.(3127-3129)Gtg>Atg p.V1043M ADCY8_ENST00000377928.3_Missense_Mutation_p.V912M NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1043 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGGCCTGACACGGCCATGTAG 0.502000 HNSCC(32;0.087) 9 67 0 0 0.335167 0 0 SLC38A6 145389 broad.mit.edu 37 14 61518549 61518549 + Missense_Mutation SNP C C A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr14:61518549C>A ENST00000354886.2 + 14 1259 c.1095C>A c.(1093-1095)ttC>ttA p.F365L SLC38A6_ENST00000267488.4_Missense_Mutation_p.F365L|SLC38A6_ENST00000456840.2_Missense_Mutation_p.F342L NM_001172702.1 NP_001166173.1 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 365 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.0981) ATTTTCCATTCTCATGGATTC 0.328000 14 63 0.0202918 0.0212312 0.457914 1 0 PI4K2A 55361 broad.mit.edu 37 10 99433441 99433441 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr10:99433441C>T ENST00000370631.3 + 9 1439 c.1382C>T c.(1381-1383)tCt>tTt p.S461F PI4K2A_ENST00000370649.3_Missense_Mutation_p.S431F|PI4K2A_ENST00000555577.1_Missense_Mutation_p.S431F NM_018425.2 NP_060895.1 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 461 phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) CAGCGGTCTTCTAGCGAGTCC 0.547000 5 186 0 0 0.184627 0 0 CUBN 8029 broad.mit.edu 37 10 17087977 17087977 + Missense_Mutation SNP T T C TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr10:17087977T>C ENST00000377833.4 - 24 3511 c.3446A>G c.(3445-3447)gAc>gGc p.D1149G NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1149 CUB 6. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGACCTTGTGTCTATTTGGTC 0.388000 25 114 0 0 0.667858 0 0 DENND2A 27147 broad.mit.edu 37 7 140227117 140227117 + Splice_Site SNP C C A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr7:140227117C>A ENST00000275884.6 - 14 2923 c.e14+1 DENND2A_ENST00000496613.1_Splice_Site|DENND2A_ENST00000537639.1_Splice_Site Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TGGGAGCTCACCTCTTCCAGC 0.677000 3 10 0.150653 0.153368 0.150653 1 0 WDR44 54521 broad.mit.edu 37 X 117526804 117526804 + Silent SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chrX:117526804G>A ENST00000254029.3 + 4 791 c.396G>A c.(394-396)gaG>gaA p.E132E WDR44_ENST00000371822.5_Silent_p.E107E|WDR44_ENST00000371825.3_Silent_p.E132E|WDR44_ENST00000493448.1_3'UTR NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 132 Binding activity. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 CATTTGAAGAGACTGAATTAG 0.398000 57 152 0 0 0.870114 0 0 RPE 6120 broad.mit.edu 37 2 210867501 210867501 + Translation_Start_Site SNP T T G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr2:210867501T>G ENST00000429921.1 + 0 150 RPE_ENST00000452025.1_Missense_Mutation_p.M39R|RPE_ENST00000445268.1_De_novo_Start_OutOfFrame|RPE_ENST00000436630.2_De_novo_Start_InFrame|RPE_ENST00000438204.2_De_novo_Start_OutOfFrame|RPE_ENST00000435437.2_Missense_Mutation_p.M39R|RPE_ENST00000429907.1_De_novo_Start_InFrame|RPE_ENST00000411934.2_Intron|RPE_ENST00000540255.1_Missense_Mutation_p.M39R|RPE_ENST00000354506.6_Missense_Mutation_p.M39R|RPE_ENST00000454822.1_De_novo_Start_OutOfFrame|RPE_ENST00000359429.6_Missense_Mutation_p.M39R NM_001278282.1|NM_001278283.1 NP_001265211.1|NP_001265212.1 Q96AT9 RPE_HUMAN ribulose-5-phosphate-3-epimerase pentose-phosphate shunt cytosol metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 9 Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431) CTGGACGTAATGGACGGGTAA 0.612000 28 149 0 0 0.750413 0 0 SCN3B 55800 broad.mit.edu 37 11 123508977 123508977 + Silent SNP G G T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr11:123508977G>T ENST00000392770.2 - 4 1303 c.501C>A c.(499-501)gtC>gtA p.V167V SCN3B_ENST00000530277.1_Silent_p.V167V|SCN3B_ENST00000299333.3_Silent_p.V167V NM_018400.3 NP_060870.1 Q9NY72 SCN3B_HUMAN sodium channel, voltage-gated, type III, beta subunit 167 axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) AGGTGAGGAAGACCAGAAGGA 0.463000 6 56 8.12818e-05 8.83158e-05 0.248553 1 0 CHRNE 1145 broad.mit.edu 37 17 4802325 4802325 + Missense_Mutation SNP T T G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr17:4802325T>G ENST00000293780.4 - 11 1307 c.1297A>C c.(1297-1299)Agc>Cgc p.S433R NM_000080.3 NP_000071.1 Q04844 ACHE_HUMAN cholinergic receptor, nicotinic, epsilon (muscle) 433 muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1) 12 TCTCTCGTGCTCTCGGCCACG 0.701000 3 16 0 0 0.150653 0 0 PKD1L2 114780 broad.mit.edu 37 16 81187676 81187676 + RNA SNP C C T rs148002235 by1000genomes TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr16:81187676C>T ENST00000525539.1 - 0 4295 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GCTCAAAAACCGGAGTGTCGG 0.607000 6 22 0 0 0.217242 0 0 SLC22A7 10864 broad.mit.edu 37 6 43266262 43266262 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr6:43266262G>A ENST00000372585.5 + 1 261 c.166G>A c.(166-168)Gcc>Acc p.A56T SLC22A7_ENST00000372574.3_Missense_Mutation_p.A56T|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A56T NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 56 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GGGTGCCCCTGCCAACTTCAG 0.662000 26 100 0 0 0.717897 0 0 CWC22 57703 broad.mit.edu 37 2 180815274 180815274 + Missense_Mutation SNP T T C TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr2:180815274T>C ENST00000410053.3 - 19 2404 c.2105A>G c.(2104-2106)gAc>gGc p.D702G CWC22_ENST00000295749.6_Missense_Mutation_p.D702G NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 702 Ser-rich. catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 GGATGAAGAGTCGCTCTCTTC 0.428000 7 28 0 0 0.278610 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 3 17 0 0 0.150653 0 0 TRMT6 51605 broad.mit.edu 37 20 5923132 5923132 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr20:5923132G>A ENST00000203001.2 - 7 1098 c.968C>T c.(967-969)aCa>aTa p.T323I TRMT6_ENST00000453074.2_Missense_Mutation_p.T153I|TRMT6_ENST00000473131.1_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 323 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 TTGAGAAATTGTTTCCATTGT 0.478000 16 65 0 0 0.575678 0 0 HNRNPAB 3182 broad.mit.edu 37 5 177633752 177633752 + Missense_Mutation SNP A A G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr5:177633752A>G ENST00000358344.3 + 4 655 c.398A>G c.(397-399)cAc>cGc p.H133R HNRNPAB_ENST00000506259.1_Missense_Mutation_p.H133R|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.H133R|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.H133R|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.H133R|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.H133R|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.H133R NM_031266.2 NP_112556.2 Q99729 ROAA_HUMAN heterogeneous nuclear ribonucleoprotein A/B 132 RRM 1. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding large_intestine(4)|prostate(1)|urinary_tract(1) 6 CAGAAGGAGCACAGGCTGGAT 0.532000 53 178 0 0 0.870114 0 0 STAB1 23166 broad.mit.edu 37 3 52544403 52544403 + Silent SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr3:52544403C>T ENST00000321725.6 + 25 2743 c.2667C>T c.(2665-2667)tgC>tgT p.C889C NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 889 EGF-like 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCCACCACTGCACATGCCACA 0.597000 17 70 0 0 0.575678 0 0 AQP5 362 broad.mit.edu 37 12 50355845 50355845 + Silent SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr12:50355845C>T ENST00000293599.6 + 1 193 c.45C>T c.(43-45)ttC>ttT p.F15F RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA NM_001651.2 NP_001642.1 P55064 AQP5_HUMAN aquaporin 5 15 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 AGGCCGTGTTCGCAGAGTTCT 0.697000 3 30 0 0 0.115264 0 0 WNK1 65125 broad.mit.edu 37 12 990073 990073 + Missense_Mutation SNP A A G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr12:990073A>G ENST00000537687.1 + 12 4442 c.3799A>G c.(3799-3801)Atg>Gtg p.M1267V WNK1_ENST00000315939.6_Missense_Mutation_p.M1007V|WNK1_ENST00000530271.2_Missense_Mutation_p.M1505V|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.M600V NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1007 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TTTAGTTCCTATGGGTGGTGT 0.512000 24 135 0 0 0.624587 0 0 EPHA10 284656 broad.mit.edu 37 1 38197242 38197242 + Missense_Mutation SNP G G T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:38197242G>T ENST00000373048.4 - 7 1503 c.1504C>A c.(1504-1506)Cag>Aag p.Q502K EPHA10_ENST00000540011.1_5'UTR|EPHA10_ENST00000330210.7_5'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.Q502K NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 502 Fibronectin type-III 2. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGTAAGTCTGCTCACTCTGA 0.592000 6 176 8.12818e-05 8.83158e-05 0.248553 1 0 SAP18 10284 broad.mit.edu 37 13 21721420 21721420 + Missense_Mutation SNP A A G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr13:21721420A>G ENST00000382533.4 + 4 497 c.458A>G c.(457-459)gAc>gGc p.D153G SAP18_ENST00000607003.1_Missense_Mutation_p.D134G NM_005870.4 NP_005861.2 O00422 SAP18_HUMAN Sin3A-associated protein, 18kDa 134 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|plasma membrane protein binding|transcription corepressor activity kidney(1)|large_intestine(1)|lung(4) 6 all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941) GATTACTTGGACATAGCAATT 0.443000 46 181 0 0 0.870114 0 0 PRPF6 24148 broad.mit.edu 37 20 62642703 62642703 + Silent SNP G G C TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr20:62642703G>C ENST00000535781.1 + 11 1482 c.1371G>C c.(1369-1371)cgG>cgC p.R457R ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 457 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) ACAAGGCGCGGGAGAACATTC 0.547000 35 104 0 0 0.804634 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 4 74 0 0 0.150653 0 0 TBC1D14 57533 broad.mit.edu 37 4 6925380 6925380 + Missense_Mutation SNP G G T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr4:6925380G>T ENST00000409757.4 + 2 388 c.264G>T c.(262-264)agG>agT p.R88S TBC1D14_ENST00000448507.1_Missense_Mutation_p.R88S NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 88 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 ACGTGAGGAGGAAGCAGTCCG 0.672000 25 103 3.65163e-15 4.25396e-15 0.706142 1 0 STYXL1 51657 broad.mit.edu 37 7 75643175 75643175 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr7:75643175C>T ENST00000451157.1 - 5 507 c.338G>A c.(337-339)gGc>gAc p.G113D STYXL1_ENST00000359697.3_Missense_Mutation_p.G113D|STYXL1_ENST00000431581.1_Missense_Mutation_p.G113D|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000360591.3_Intron|STYXL1_ENST00000248600.1_Missense_Mutation_p.G113D Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 113 Rhodanese. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 CAGGATCCTGCCATACTCAAT 0.537000 57 151 0 0 0.870114 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48226726 48226726 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr17:48226726C>T ENST00000316878.6 - 3 1149 c.1147G>A c.(1147-1149)Gag>Aag p.E383K PPP1R9B_ENST00000501501.2_5'UTR NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 383 cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 GAGAAGTCCTCCTTCTTGGAT 0.687000 8 47 0 0 0.335167 0 0 SSPO 23145 broad.mit.edu 37 7 149490705 149490705 + RNA SNP C C G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr7:149490705C>G ENST00000378016.2 + 0 6079 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) CTGTGCCCTACCTGGTGAGTG 0.642000 21 61 0 0 0.654019 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25258712 25258712 + Splice_Site SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr16:25258712C>T ENST00000328086.7 - 5 1609 c.e5-1 NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) ACTGCACTTCCTACAGTAAAA 0.443000 5 62 0 0 0.184627 0 0 SYT9 143425 broad.mit.edu 37 11 7324582 7324582 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr11:7324582G>A ENST00000318881.6 + 2 695 c.458G>A c.(457-459)cGc>cAc p.R153H SYT9_ENST00000396716.2_Missense_Mutation_p.R121H NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 153 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CATGGCGTCCGCGTGCAGCGC 0.612000 5 26 0 0 0.248553 0 0 N4BP2 55728 broad.mit.edu 37 4 40115055 40115055 + Nonsense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr4:40115055C>T ENST00000261435.6 + 7 2007 c.1591C>T c.(1591-1593)Cag>Tag p.Q531* NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 531 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TATGTAGTCTCAGAAACACAA 0.313000 17 108 0 0 0.539581 0 0 MIB2 142678 broad.mit.edu 37 1 1559245 1559245 + Missense_Mutation SNP C C G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:1559245C>G ENST00000357210.4 + 4 729 c.513C>G c.(511-513)gaC>gaG p.D171E MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000504599.1_Missense_Mutation_p.D127E|MIB2_ENST00000378708.1_Missense_Mutation_p.D113E|MIB2_ENST00000378712.1_Missense_Mutation_p.D113E|MIB2_ENST00000360522.4_Missense_Mutation_p.D171E|MIB2_ENST00000505820.2_Missense_Mutation_p.D228E|MIB2_ENST00000520777.1_Missense_Mutation_p.D228E|MIB2_ENST00000518681.1_Missense_Mutation_p.D228E|MIB2_ENST00000378710.3_Missense_Mutation_p.D171E|MIB2_ENST00000355826.5_Missense_Mutation_p.D214E NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 171 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGGACTACGACCTCTGCACGC 0.662000 8 34 0 0 0.335167 0 0 FBN2 2201 broad.mit.edu 37 5 127705028 127705028 + Splice_Site SNP C C G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr5:127705028C>G ENST00000508053.1 - 22 3070 c.e22-1 FBN2_ENST00000262464.4_Splice_Site|FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000511489.1_Splice_Site P35556 FBN2_HUMAN fibrillin 2 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ATGTGAGTATCTAAAGGAGAT 0.468000 3 44 0 0 0.115264 0 0 IRF2BPL 64207 broad.mit.edu 37 14 77493096 77493096 + Missense_Mutation SNP T T C rs147723826 TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr14:77493096T>C ENST00000238647.3 - 1 1938 c.1040A>G c.(1039-1041)aAg>aGg p.K347R NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 347 nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GTTGCGCTGCTTCTCCTTCAA 0.677000 10 36 0 0 0.387290 0 0 DNAH14 127602 broad.mit.edu 37 1 225155275 225155275 + Missense_Mutation SNP T T A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:225155275T>A ENST00000430092.1 + 6 856 c.641T>A c.(640-642)tTt>tAt p.F214Y DNAH14_ENST00000400952.3_Missense_Mutation_p.F214Y|DNAH14_ENST00000366850.3_Missense_Mutation_p.F214Y|DNAH14_ENST00000366848.1_Missense_Mutation_p.F214Y|DNAH14_ENST00000366849.1_Intron|DNAH14_ENST00000439375.2_Missense_Mutation_p.F214Y NM_001373.1 NP_001364.1 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 341 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 ACTGCTTCATTTATCTCAAAG 0.303000 17 103 0 0 0.575678 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 83 0 0 0.184627 0 0 IGHG2 3501 broad.mit.edu 37 14 106110218 106110218 + RNA SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr14:106110218G>A ENST00000390545.2 - 0 399 TCAGGGGTCCGGGAGATCATG 0.602000 8 346 0 0 0.278610 0 0 CA3 761 broad.mit.edu 37 8 86360293 86360293 + Missense_Mutation SNP G G A rs61743815 byFrequency TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr8:86360293G>A ENST00000285381.2 + 7 777 c.694G>A c.(694-696)Gct>Act p.A232T RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 232 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCTCTCCAGTGCTGAGAACGA 0.547000 6 36 0 0 0.217242 0 0 ACACA 31 broad.mit.edu 37 17 35631185 35631185 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr17:35631185G>A ENST00000353139.5 - 9 1388 c.907C>T c.(907-909)Cgt>Tgt p.R303C ACACA_ENST00000394406.2_Missense_Mutation_p.R266C|ACACA_ENST00000360679.3_Missense_Mutation_p.R208C|ACACA_ENST00000335166.5_Missense_Mutation_p.R188C NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 266 ATP-grasp.|Biotin carboxylation. E -> K (in Ref. 1; AAC50139). acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CAGTCCACACGAAGACCTGCA 0.388000 4 89 0 0 0.217242 0 0 RBM15 64783 broad.mit.edu 37 1 110884074 110884074 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:110884074C>T ENST00000369784.3 + 1 2947 c.2047C>T c.(2047-2049)Cgt>Tgt p.R683C RBM15_ENST00000487146.2_Missense_Mutation_p.R683C|RBM15_ENST00000602849.1_Missense_Mutation_p.R683C NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 683 Arg-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) TAGCCGGGATCGTTACAACAG 0.537000 T MKL1 acute megakaryocytic leukemia 10 55 0 0 0.361761 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762947 92762947 + Missense_Mutation SNP G G T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr7:92762947G>T ENST00000318238.4 - 5 3554 c.2338C>A c.(2338-2340)Caa>Aaa p.Q780K SAMD9L_ENST00000411955.1_Missense_Mutation_p.Q780K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.Q780K NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 780 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTGATCACTTGCTCTGCAATT 0.398000 14 157 2.31682e-05 2.59209e-05 0.479597 1 0 LMO7 4008 broad.mit.edu 37 13 76427232 76427232 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr13:76427232G>A ENST00000357063.3 + 29 5785 c.4525G>A c.(4525-4527)Gaa>Aaa p.E1509K LMO7_ENST00000321797.8_Missense_Mutation_p.E1224K|LMO7_ENST00000341547.4_Missense_Mutation_p.E1175K|LMO7_ENST00000377534.3_Missense_Mutation_p.E1509K|LMO7_ENST00000465261.2_Missense_Mutation_p.E1224K|LMO7_ENST00000526202.1_Missense_Mutation_p.E1101K Q8WWI1 LMO7_HUMAN LIM domain 7 1509 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding p.E1509*(1)|p.E1175*(1)|p.E1224*(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TTTCAGAGGCGAATCTTTAGA 0.378000 10 54 0 0 0.411799 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043960 71043960 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr2:71043960C>T ENST00000272367.2 - 4 629 c.553G>A c.(553-555)Gaa>Aaa p.E185K CLEC4F_ENST00000426626.1_Missense_Mutation_p.E185K NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 185 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TCAAGGTCTTCCTTGAGCCTC 0.448000 10 53 0 0 0.335167 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43659419 43659419 + Missense_Mutation SNP G G T rs80035763 byFrequency TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr10:43659419G>T ENST00000374466.3 + 5 1421 c.1086G>T c.(1084-1086)ttG>ttT p.L362F NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 362 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding p.L362F(5) endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GAGAGGTCTTGATGTTTTTCT 0.433000 4 97 0.014758 0.0155855 0.184627 1 0 CAMSAP1 157922 broad.mit.edu 37 9 138719300 138719300 + Silent SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr9:138719300C>T ENST00000389532.4 - 8 1240 c.1176G>A c.(1174-1176)gcG>gcA p.A392A CAMSAP1_ENST00000312405.6_Silent_p.A114A|CAMSAP1_ENST00000409386.3_Silent_p.A403A NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 392 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACAGCCTTCCGCCGGCAGCT 0.577000 7 25 0 0 0.307466 0 0 PENK 5179 broad.mit.edu 37 8 57353913 57353913 + Missense_Mutation SNP A A G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr8:57353913A>G ENST00000314922.3 - 2 798 c.722T>C c.(721-723)cTg>cCg p.L241P PENK_ENST00000451791.2_Missense_Mutation_p.L241P NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 241 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GTCGGAGGGCAGAGCCTCGGC 0.473000 5 91 0 0 0.217242 0 0 PAXIP1 22976 broad.mit.edu 37 7 154738232 154738232 + Silent SNP G G C TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr7:154738232G>C ENST00000404141.1 - 19 3277 c.3123C>G c.(3121-3123)gcC>gcG p.A1041A PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.A1041A Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 1041 BRCT 6.|Interaction with TP53BP1. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) CTATGCCTCTGGCAAAATATT 0.413000 16 43 0 0 0.520397 0 0 PAMR1 25891 broad.mit.edu 37 11 35456318 35456318 + Missense_Mutation SNP C C A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr11:35456318C>A ENST00000378880.2 - 10 1813 c.1368G>T c.(1366-1368)aaG>aaT p.K456N PAMR1_ENST00000278360.3_Missense_Mutation_p.K473N|PAMR1_ENST00000378878.3_Missense_Mutation_p.K345N|PAMR1_ENST00000532848.1_Missense_Mutation_p.K416N NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 456 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ACCCTTGGGTCTTTGGAGCAG 0.532000 11 136 3.27435e-08 3.70002e-08 0.457914 1 0 CASP8 841 broad.mit.edu 37 2 202137461 202137461 + Missense_Mutation SNP T T G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr2:202137461T>G ENST00000358485.4 + 4 885 c.689T>G c.(688-690)cTg>cGg p.L230R CASP8_ENST00000323492.7_Missense_Mutation_p.L171R|CASP8_ENST00000392258.3_Missense_Mutation_p.L171R|CASP8_ENST00000392259.2_Missense_Mutation_p.L171R|CASP8_ENST00000392266.3_Missense_Mutation_p.L171R|CASP8_ENST00000264274.9_Missense_Mutation_p.L171R|CASP8_ENST00000264275.5_Missense_Mutation_p.L203R|CASP8_ENST00000432109.2_Missense_Mutation_p.L171R NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 171 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AACAAGAGCCTGCTGAAGATA 0.428000 HNSCC(4;0.00038) 16 211 0 0 0.592651 0 0 OR6F1 343169 broad.mit.edu 37 1 247875281 247875281 + Silent SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:247875281G>A ENST00000302084.2 - 1 824 c.777C>T c.(775-777)caC>caT p.H259H RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGTGCGGACGTGAAGGAAAA 0.527000 18 101 0 0 0.539581 0 0 ASTN1 460 broad.mit.edu 37 1 177001612 177001612 + Missense_Mutation SNP G G C TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:177001612G>C ENST00000367654.2 - 3 858 c.845C>G c.(844-846)tCg>tGg p.S282W ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S282W|ASTN1_ENST00000424564.2_Missense_Mutation_p.S282W|ASTN1_ENST00000361833.2_Missense_Mutation_p.S282W O14525 ASTN1_HUMAN astrotactin 1 282 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GTCCATCCCCGACTTTTCATT 0.607000 10 187 0 0 0.387290 0 0 PASD1 139135 broad.mit.edu 37 X 150842555 150842555 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chrX:150842555G>A ENST00000370357.4 + 15 2317 c.2072G>A c.(2071-2073)cGg>cAg p.R691Q NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 691 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GATTACATCCGGCTTTGGCAA 0.512000 7 290 0 0 0.307466 0 0 SKA2 348235 broad.mit.edu 37 17 57232319 57232319 + Silent SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr17:57232319G>A ENST00000580541.1 - 1 226 c.126C>T c.(124-126)ctC>ctT p.L42L SKA2_ENST00000583380.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000437036.2_Silent_p.L42L|SKA2_ENST00000330137.7_Intron|SKA2_ENST00000578105.1_Intron Q8WVK7 SKA2_HUMAN spindle and kinetochore associated complex subunit 2 0 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding p.L42L(2) lung(4) 4 CCCCTTACCCGAGGCGGTTTA 0.612000 5 175 0 0 0.217242 0 0 SLC6A9 6536 broad.mit.edu 37 1 44463258 44463258 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:44463258C>T ENST00000372310.3 - 14 2026 c.1861G>A c.(1861-1863)Ggc>Agc p.G621S SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.G694S|SLC6A9_ENST00000475075.2_Missense_Mutation_p.G510S|SLC6A9_ENST00000357730.2_Missense_Mutation_p.G640S|SLC6A9_ENST00000372306.3_Intron NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 694 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CCATTACTGCCCACAATGGGG 0.682000 28 157 0 0 0.729181 0 0 ANKRD52 283373 broad.mit.edu 37 12 56648430 56648430 + Missense_Mutation SNP G G C TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr12:56648430G>C ENST00000267116.7 - 7 746 c.625C>G c.(625-627)Ctg>Gtg p.L209V NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 209 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GTATGGAGCAGCCCATAGCCC 0.572000 7 28 0 0 0.248553 0 0 HR 55806 broad.mit.edu 37 8 21977855 21977855 + Splice_Site SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr8:21977855G>A ENST00000381418.4 - 12 4256 c.2776_splice c.e12+1 p.L926_splice HR_ENST00000312841.8_Splice_Site_p.L926_splice NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 926 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGACACTTACGCTCAGGCCAG 0.682000 14 64 0 0 0.592651 0 0 NPY5R 4889 broad.mit.edu 37 4 164271885 164271885 + Missense_Mutation SNP A A T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr4:164271885A>T ENST00000515560.1 + 4 1982 c.460A>T c.(460-462)Aac>Tac p.N154Y NPY5R_ENST00000506953.1_Missense_Mutation_p.N154Y|NPY5R_ENST00000338566.3_Missense_Mutation_p.N154Y Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 154 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TTTAACAGCAAACCATGGCTA 0.358000 6 269 0 0 0.217242 0 0 UBE2O 63893 broad.mit.edu 37 17 74394355 74394355 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr17:74394355G>A ENST00000319380.7 - 12 2070 c.2006C>T c.(2005-2007)gCt>gTt p.A669V UBE2O_ENST00000587581.1_5'UTR NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 669 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 CTTGTGAGGAGCCCCATCCTC 0.537000 OREG0024751 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 247 0 0 0.870114 0 0 C8A 731 broad.mit.edu 37 1 57341845 57341845 + Missense_Mutation SNP T T A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:57341845T>A ENST00000361249.3 + 4 523 c.427T>A c.(427-429)Tat>Aat p.Y143N NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 143 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CTGCAGCCAGTATGAACCAAT 0.507000 7 116 0 0 0.307466 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318530 79318530 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr9:79318530C>T ENST00000428286.1 - 9 8122 c.6922G>A c.(6922-6924)Ggc>Agc p.G2308S PRUNE2_ENST00000376718.3_Missense_Mutation_p.G2667S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2667 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCACCCAAGCCGAGTTCAGAG 0.547000 7 37 0 0 0.307466 0 0 FN3KRP 79672 broad.mit.edu 37 17 80684842 80684842 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr17:80684842C>T ENST00000269373.6 + 6 798 c.725C>T c.(724-726)tCg>tTg p.S242L FN3KRP_ENST00000535965.1_Missense_Mutation_p.S192L NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 242 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TACGGCCACTCGGAATATGAG 0.552000 13 81 0 0 0.479597 0 0 ZNF445 353274 broad.mit.edu 37 3 44492401 44492401 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr3:44492401C>T ENST00000425708.2 - 4 993 c.652G>A c.(652-654)Gac>Aac p.D218N ZNF445_ENST00000396077.2_Missense_Mutation_p.D218N P59923 ZN445_HUMAN zinc finger protein 445 218 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) GTTACCTGGTCTCCCGGGCAC 0.592000 4 11 0 0 0.217242 0 0 NR0B1 190 broad.mit.edu 37 X 30327300 30327300 + Missense_Mutation SNP C C A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chrX:30327300C>A ENST00000378970.4 - 1 415 c.181G>T c.(181-183)Gcg>Tcg p.A61S NR0B1_ENST00000453287.1_Missense_Mutation_p.A61S NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 61 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) TACAGGAGCGCCACGTTCCGC 0.662000 11 27 3.86212e-05 4.27862e-05 0.361761 1 0 FLOT2 2319 broad.mit.edu 37 17 27208843 27208843 + Silent SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr17:27208843G>A ENST00000394906.2 - 10 1145 c.1068C>T c.(1066-1068)gcC>gcT p.A356A FLOT2_ENST00000585169.1_Silent_p.A301A|FLOT2_ENST00000394908.4_Silent_p.A301A|FLOT2_ENST00000577789.1_5'UTR Q14254 FLOT2_HUMAN flotillin 2 301 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) TTTCACCCTCGGCAATCTGCT 0.637000 12 81 0 0 0.435327 0 0 PTPRT 11122 broad.mit.edu 37 20 40827935 40827935 + Silent SNP G G A rs145661499 by1000genomes TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr20:40827935G>A ENST00000373198.3 - 17 2737 c.2502C>T c.(2500-2502)agC>agT p.S834S PTPRT_ENST00000356100.2_Silent_p.S821S|PTPRT_ENST00000373184.1_Silent_p.S802S|PTPRT_ENST00000373187.1_Silent_p.S812S|PTPRT_ENST00000373190.1_Silent_p.S812S|PTPRT_ENST00000373201.1_Silent_p.S802S|PTPRT_ENST00000373193.3_Silent_p.S815S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 812 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.S834R(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGCGGCTGGCGCTGAGCTTGG 0.577000 14 416 0 0 0.500413 0 0 FBXO44 93611 broad.mit.edu 37 1 11716117 11716117 + Silent SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:11716117G>A ENST00000376770.1 + 3 723 c.225G>A c.(223-225)cgG>cgA p.R75R FBXO44_ENST00000251547.5_Silent_p.R75R|FBXO44_ENST00000251546.4_Silent_p.R75R|FBXO44_ENST00000376760.1_Silent_p.R75R|FBXO44_ENST00000376762.4_Silent_p.R75R|FBXO44_ENST00000376768.1_Silent_p.R75R NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 75 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) ACTTCTTACGGAGCCTGCACA 0.592000 33 145 0 0 0.834066 0 0 TNRC6A 27327 broad.mit.edu 37 16 24800803 24800803 + Silent SNP A A G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr16:24800803A>G ENST00000395799.3 + 6 969 c.840A>G c.(838-840)aaA>aaG p.K280K TNRC6A_ENST00000315183.7_Silent_p.K280K NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 280 Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GTGGTGAAAAAGATGGCCTTC 0.478000 3 98 0 0 0.115264 0 0 ZNF14 7561 broad.mit.edu 37 19 19823380 19823380 + Missense_Mutation SNP G G C TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr19:19823380G>C ENST00000344099.3 - 4 848 c.710C>G c.(709-711)tCt>tGt p.S237C NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) TCTTTGAAAAGATTGGTAACA 0.363000 11 41 0 0 0.457914 0 0 OR1S1 219959 broad.mit.edu 37 11 57983102 57983102 + Missense_Mutation SNP C C G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr11:57983102C>G ENST00000309433.6 + 1 886 c.886C>G c.(886-888)Ccc>Gcc p.P296A NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TGTGGTGACACCCATGATAAA 0.458000 17 142 0 0 0.557998 0 0 PRDM5 11107 broad.mit.edu 37 4 121706213 121706213 + Nonsense_Mutation SNP C C A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr4:121706213C>A ENST00000264808.3 - 11 1462 c.1222G>T c.(1222-1224)Gaa>Taa p.E408* PRDM5_ENST00000428209.2_Nonsense_Mutation_p.E377*|PRDM5_ENST00000515109.1_Nonsense_Mutation_p.E377* NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 408 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GCTTTACATTCTTCACATTGG 0.423000 13 83 6.72482e-11 7.75413e-11 0.479597 1 0 PCDHB6 56130 broad.mit.edu 37 5 140529911 140529911 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr5:140529911G>A ENST00000231136.1 + 1 73 c.73G>A c.(73-75)Gtg>Atg p.V25M PCDHB6_ENST00000543635.1_Intron NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 25 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGGGGAGAGGTGGGTTCTGA 0.443000 28 124 0 0 0.760397 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21553927 21553927 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr14:21553927G>A ENST00000298694.4 + 19 4167 c.4040G>A c.(4039-4041)cGa>cAa p.R1347Q ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R1347Q Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1347 PH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CGGCGTGCACGAGAGGCATAC 0.562000 16 98 0 0 0.539581 0 0 LARP6 55323 broad.mit.edu 37 15 71124557 71124557 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr15:71124557C>T ENST00000299213.8 - 3 1380 c.1310G>A c.(1309-1311)cGc>cAc p.R437H NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 437 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 CTCGGCTTGGCGACGCCTCCG 0.622000 5 93 0 0 0.217242 0 0 ALLC 55821 broad.mit.edu 37 2 3727515 3727515 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr2:3727515G>A ENST00000252505.3 + 5 391 c.229G>A c.(229-231)Gtg>Atg p.V77M NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 96 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GGGCTTCGACGTGGACGTTTC 0.547000 HNSCC(21;0.051) 17 117 0 0 0.520397 0 0 PBOV1 59351 broad.mit.edu 37 6 138539390 138539390 + Missense_Mutation SNP A A T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr6:138539390A>T ENST00000527246.2 - 1 237 c.143T>A c.(142-144)tTc>tAc p.F48Y KIAA1244_ENST00000251691.4_Intron NM_021635.2 NP_067648.1 Q9GZY1 PBOV1_HUMAN prostate and breast cancer overexpressed 1 48 cytoplasm|nucleus endometrium(1) 1 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674) CTtgtagcagaatggtaagag 0.358000 5 12 0 0 0.184627 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785674 1785674 + Nonsense_Mutation SNP C C A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr19:1785674C>A ENST00000539485.1 - 26 3450 c.3217G>T c.(3217-3219)Gag>Tag p.E1073* ATP8B3_ENST00000525591.1_Nonsense_Mutation_p.E1026*|ATP8B3_ENST00000310127.6_Nonsense_Mutation_p.E1063* O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1063 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTACAGCTCCGGCTTCTCC 0.592000 5 20 0.014758 0.0155855 0.184627 1 0 BMP10 27302 broad.mit.edu 37 2 69093006 69093006 + Silent SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr2:69093006C>T ENST00000295379.1 - 2 1190 c.1032G>A c.(1030-1032)ccG>ccA p.P344P NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 344 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CGTATCCAGGCGGAGCGATGA 0.537000 13 71 0 0 0.479597 0 0 NAT10 55226 broad.mit.edu 37 11 34162078 34162078 + Missense_Mutation SNP C C G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr11:34162078C>G ENST00000257829.3 + 24 2757 c.2551C>G c.(2551-2553)Ctg>Gtg p.L851V NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.L779V NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 851 Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CATCTATTTCCTGAACCAGCT 0.542000 13 50 0 0 0.435327 0 0 KCTD3 51133 broad.mit.edu 37 1 215793829 215793829 + Missense_Mutation SNP C C G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:215793829C>G ENST00000259154.4 + 18 2611 c.2317C>G c.(2317-2319)Ctg>Gtg p.L773V KCTD3_ENST00000495537.1_3'UTR NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 773 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) AGTTCCCTATCTGGCGTCATC 0.433000 6 167 0 0 0.248553 0 0 CARD8 22900 broad.mit.edu 37 19 48733816 48733816 + Missense_Mutation SNP A A G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr19:48733816A>G ENST00000391898.3 - 7 956 c.914T>C c.(913-915)aTc>aCc p.I305T CARD8_ENST00000520153.1_Missense_Mutation_p.I255T|CARD8_ENST00000357778.5_Missense_Mutation_p.I30T|CARD8_ENST00000521613.1_Missense_Mutation_p.I255T|CARD8_ENST00000520015.1_Missense_Mutation_p.I305T|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Missense_Mutation_p.I255T|CARD8_ENST00000359009.4_Missense_Mutation_p.I199T|CARD8_ENST00000520753.1_Missense_Mutation_p.I305T|CARD8_ENST00000519940.1_Missense_Mutation_p.I305T NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 199 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CCCACTGGCGATCCGCAGCAG 0.547000 26 87 0 0 0.667858 0 0 SARS 6301 broad.mit.edu 37 1 109773541 109773541 + Silent SNP A A T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:109773541A>T ENST00000369923.4 + 5 500 c.489A>T c.(487-489)acA>acT p.T163T SARS_ENST00000234677.2_Silent_p.T163T P49591 SYSC_HUMAN seryl-tRNA synthetase 163 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) GTGATTGTACAGTCAGGAAGA 0.438000 25 140 0 0 0.729181 0 0 SLC35F4 341880 broad.mit.edu 37 14 58063588 58063588 + Missense_Mutation SNP G G A TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr14:58063588G>A ENST00000339762.6 - 1 27 c.28C>T c.(28-30)Cac>Tac p.H10Y SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTCAGTTTGTGGAAGAGATCC 0.433000 8 48 0 0 0.307466 0 0 ABCC12 94160 broad.mit.edu 37 16 48138271 48138271 + Silent SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr16:48138271C>T ENST00000311303.3 - 20 3027 c.2682G>A c.(2680-2682)aaG>aaA p.K894K ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 894 ABC transmembrane type-1 2. K -> M (in dbSNP:rs8057474). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TCATTGGGCTCTTTAAGATCT 0.507000 22 85 0 0 0.654019 0 0 C1orf173 127254 broad.mit.edu 37 1 75038614 75038614 + Missense_Mutation SNP G G T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr1:75038614G>T ENST00000326665.5 - 14 2998 c.2780C>A c.(2779-2781)aCa>aAa p.T927K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 927 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTCCTCCGATGTCGCTGCCTC 0.552000 6 199 0.000157383 0.000169374 0.278610 1 0 FRMPD1 22844 broad.mit.edu 37 9 37731098 37731098 + Nonsense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr9:37731098C>T ENST00000539465.1 + 9 1449 c.856C>T c.(856-858)Cag>Tag p.Q286* FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.Q286*|FRMPD1_ENST00000536622.1_Nonsense_Mutation_p.Q108*|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Nonsense_Mutation_p.Q155* Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 286 FERM. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CCTCTATCTGCAGGTGACTGG 0.507000 25 57 0 0 0.740014 0 0 AP2M1 1173 broad.mit.edu 37 3 183896833 183896834 + Frame_Shift_Ins INS - - G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr3:183896833_183896834insG ENST00000382456.3 + 3 577_578 c.263_264insG c.(262-264)gatfs p.D88fs AP2M1_ENST00000439647.1_Frame_Shift_Ins_p.D88fs|AP2M1_ENST00000292807.5_Frame_Shift_Ins_p.D88fs|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Frame_Shift_Ins_p.D113fs NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 88 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATGTGTGACGTGATGGCTGCCT 0.505 18 150 --- --- --- --- SNAP91 9892 broad.mit.edu 37 6 84304170 84304170 + Frame_Shift_Del DEL G G - TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr6:84304170delG ENST00000428679.2 - 17 1948 c.1355delC c.(1354-1356)ctfs p.P452fs SNAP91_ENST00000520302.1_Frame_Shift_Del_p.P450fs|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.P452fs|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.P452fs|SNAP91_ENST00000439399.2_Frame_Shift_Del_p.P452fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.P452fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.P452fs O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 452 Ala-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GGATGCTGCAGGGGCCTCCCC 0.483 2 4 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242466 55242480 + In_Frame_Del DEL GAATTAAGAGAAGCA GAATTAAGAGAAGCA - rs121913438 TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr7:55242466_55242480delGAATTAAGAGAAGCA ENST00000275493.2 + 19 2413_2427 c.2236_2250delGAATTAAGAGAAGCA c.(2236-2250)del p.ELREA746del EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 746 Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.T751_E758del(1)|p.R748K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CGCTATCAAGGAATTAAGAGAAGCAACATCTCCGA 0.474 E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 28 94 --- --- --- --- NACA 4666 broad.mit.edu 37 12 57113686 57113687 + Frame_Shift_Del DEL GG GG - TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr12:57113686_57113687delGG ENST00000454682.1 - 3 1908_1909 c.1627_1628delCC c.(1627-1629)tfs p.P543fs NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Del_p.P543fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 17 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGAGAGAAAGGGGCTCCTTCA 0.475 T BCL6 NHL 9 51 --- --- --- --- NACA 4666 broad.mit.edu 37 12 57113816 57113819 + Frame_Shift_Del DEL TGGT TGGT - rs147776312 by1000genomes TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr12:57113816_57113819delTGGT ENST00000454682.1 - 3 1776_1779 c.1495_1498delACCA c.(1495-1500)ctfs p.TT499fs NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Del_p.TT499fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ATCCTCAGAGTGGTTGCTACTTGA 0.475 T BCL6 NHL 9 78 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 7 171 --- --- --- --- LOC63930 63930 broad.mit.edu 37 20 61659469 61659483 + RNA DEL GGCGGGGAGTGGTTT GGCGGGGAGTGGTTT - rs61495421 TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chr20:61659469_61659483delGGCGGGGAGTGGTTT ENST00000607802.1 + 0 91 NR_033370.1 ggagggggccggcggggagtggtttggtggggagg 0.702 4 4 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 7 298 --- --- --- --- LINC00893 100131434 broad.mit.edu 37 X 148621616 148621620 + RNA DEL CCCCC CCCCC - TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ff0abcf-911c-4531-833e-93dbab2c5e35 3ea49416-1c76-4ad9-8216-37be7101dd8c g.chrX:148621616_148621620delCCCCC ENST00000541582.1 - 0 119 ccccgcccctcccccccctgccccg 0.737 3 5 --- --- --- ---