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 AZI1 22994 broad.mit.edu 37 17 79193819 79193819 + Missense_Mutation SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr17:79193819C>T ENST00000269392.4 - 2 285 c.38G>A c.(37-39)cGc>cAc p.R13H AZI1_ENST00000450824.2_Missense_Mutation_p.R13H|AZI1_ENST00000374782.3_Missense_Mutation_p.R13H|AZI1_ENST00000575907.1_Missense_Mutation_p.R13H NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 13 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TGCTGGGCTGCGCTCCGGGAC 0.662000 5 93 0 0 1 0 0 PTPN5 84867 broad.mit.edu 37 11 18755102 18755102 + Splice_Site SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr11:18755102C>T ENST00000396170.1 - 10 2249 c.e10+1 RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Splice_Site|PTPN5_ENST00000396167.2_Splice_Site|PTPN5_ENST00000396171.4_Splice_Site|PTPN5_ENST00000477854.1_Splice_Site|PTPN5_ENST00000358540.2_Splice_Site NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 GGAATACGTACCCGGATGTAG 0.592000 35 56 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr17:7578394T>C ENST00000420246.2 - 5 668 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGCGCTCATGGTGGGGGCA 0.642000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 22 41 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111631214 111631214 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr6:111631214G>A ENST00000435970.1 - 32 9466 c.8650C>T c.(8650-8652)Ctt>Ttt p.L2884F REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000358835.3_Missense_Mutation_p.L2962F|REV3L_ENST00000368805.1_Missense_Mutation_p.L2962F|REV3L_ENST00000368802.3_Missense_Mutation_p.L2962F O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2962 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AGCTGGATAAGTGGTACTCCG 0.512000 DNA polymerases (catalytic subunits) 27 66 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103498922 103498922 + Missense_Mutation SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chrX:103498922C>T ENST00000372588.4 - 2 502 c.419G>A c.(418-420)cGc>cAc p.R140H NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 140 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GCGGCGGCGGCGTTTCCTCTC 0.632000 21 75 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 4 42 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 5 45 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10715751 10715751 + Silent SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:10715751G>A ENST00000377022.3 - 9 1937 c.1620C>T c.(1618-1620)caC>caT p.H540H CASZ1_ENST00000344008.5_Silent_p.H540H NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 540 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGTGGCAGCCGTGGTAGTAGA 0.637000 14 22 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100348502 100348502 + RNA SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr7:100348502C>T ENST00000542585.1 + 0 1652 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCCCTCAGGACACCAACAGCC 0.647000 20 27 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92472717 92472717 + Missense_Mutation SNP C C A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr14:92472717C>A ENST00000267622.4 - 11 1976 c.1603G>T c.(1603-1605)Gat>Tat p.D535Y NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 535 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TCATTTAGATCTTGTTTCAGT 0.303000 T PDGFRB AML 5 25 1.23904e-05 1.25601e-05 1 1 0 OR8A1 390275 broad.mit.edu 37 11 124440650 124440650 + Missense_Mutation SNP C C A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr11:124440650C>A ENST00000284287.3 + 1 758 c.686C>A c.(685-687)aCa>aAa p.T229K NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) ACGAGCTTAACAGTTCTTGTT 0.498000 20 42 1.56452e-12 1.63063e-12 1 1 0 MAP7 9053 broad.mit.edu 37 6 136710584 136710584 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr6:136710584G>A ENST00000354570.3 - 4 726 c.316C>T c.(316-318)Cgg>Tgg p.R106W MAP7_ENST00000544465.1_Missense_Mutation_p.R91W|MAP7_ENST00000454590.1_Missense_Mutation_p.R128W|MAP7_ENST00000438100.2_Missense_Mutation_p.R128W|MAP7_ENST00000432797.2_5'UTR NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 106 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CTCTTCTTCCGCTCTTCCAGG 0.527000 43 77 0 0 1 0 0 PCDHGB3 0 broad.mit.edu 37 5 140751623 140751623 + Silent SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr5:140751623C>T ENST00000576222.1 + 1 1793 c.1662C>T c.(1660-1662)gaC>gaT p.D554D PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGGACGACCGCAACGACA 0.667000 21 55 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73731941 73731941 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr7:73731941G>A ENST00000223398.6 + 2 392 c.65G>A c.(64-66)cGg>cAg p.R22Q CLIP2_ENST00000395060.1_Missense_Mutation_p.R22Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.R22Q NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 22 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 CCCATGGGCCGGACATCTACT 0.672000 75 100 0 0 1 0 0 LRRN4 164312 broad.mit.edu 37 20 6022239 6022239 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr20:6022239G>A ENST00000378858.4 - 5 1876 c.1652C>T c.(1651-1653)cCc>cTc p.P551L NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 551 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 GTGCTTGCAGGGATGGTAATC 0.662000 46 136 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5428407 5428407 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr18:5428407G>A ENST00000341928.2 - 9 1310 c.970C>T c.(970-972)Cgc>Tgc p.R324C EPB41L3_ENST00000540638.2_Missense_Mutation_p.R324C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R324C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R324C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R324C NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 324 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 AGCCGGTCGCGATATATCAAC 0.413000 38 89 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117391968 117391968 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr11:117391968G>A ENST00000321322.6 - 6 1271 c.1270C>T c.(1270-1272)Cgc>Tgc p.R424C DSCAML1_ENST00000527706.1_Missense_Mutation_p.R154C NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 364 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTGAGCCCGCGGATGGAGATG 0.652000 58 108 0 0 1 0 0 RIC8B 55188 broad.mit.edu 37 12 107236410 107236410 + Missense_Mutation SNP G G C TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr12:107236410G>C ENST00000392837.4 + 5 1031 c.880G>C c.(880-882)Gat>Cat p.D294H RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.D254H|RIC8B_ENST00000392839.2_Missense_Mutation_p.D294H Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 294 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 CTCTTGTTTGGATGTTCTCAT 0.348000 10 35 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66081728 66081728 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:66081728G>A ENST00000349533.6 + 15 2218 c.2033G>A c.(2032-2034)aGa>aAa p.R678K LEPR_ENST00000371060.3_Missense_Mutation_p.R678K|LEPR_ENST00000344610.8_Missense_Mutation_p.R678K|LEPR_ENST00000371059.3_Missense_Mutation_p.R678K|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.R678K NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 678 Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGTGTTCAGAGATATGTGATA 0.393000 23 44 0 0 1 0 0 AP5M1 55745 broad.mit.edu 37 14 57736076 57736076 + Missense_Mutation SNP C C A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr14:57736076C>A ENST00000261558.3 + 1 450 c.44C>A c.(43-45)aCt>aAt p.T15N AP5M1_ENST00000431972.2_Missense_Mutation_p.T15N NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 15 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex GAACCGGGAACTCCACTTTGT 0.488000 10 73 2.80697e-09 2.88495e-09 1 1 0 MEN1 0 broad.mit.edu 37 11 64572230 64572230 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr11:64572230G>A ENST00000337652.1 - 10 1927 c.1424C>T c.(1423-1425)cCg>cTg p.P475L MEN1_ENST00000443283.1_Missense_Mutation_p.P475L|MEN1_ENST00000377321.1_Missense_Mutation_p.P435L|MEN1_ENST00000377313.1_Missense_Mutation_p.P475L|MEN1_ENST00000377316.2_Missense_Mutation_p.P415L|MEN1_ENST00000394374.2_Missense_Mutation_p.P475L|MEN1_ENST00000312049.6_Missense_Mutation_p.P470L|MEN1_ENST00000394376.1_Missense_Mutation_p.P475L|MEN1_ENST00000315422.4_Missense_Mutation_p.P470L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.P470L NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 475 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CTCGCCCCACGGCTCCTCGGC 0.731000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 20 56 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784834 32784834 + Missense_Mutation SNP A A G TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr9:32784834A>G ENST00000342743.5 + 2 1018 c.653A>G c.(652-654)tAc>tGc p.Y218C NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 218 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 TATGACAGATACTGTTGTTAT 0.478000 15 55 0 0 1 0 0 HLA-V 0 broad.mit.edu 37 6 29760284 29760284 + RNA SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr6:29760284C>T ENST00000457107.1 + 0 154 GCTTCCTCTCCGTGGGCGACG 0.706000 4 10 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140183011 140183011 + Silent SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr5:140183011C>T ENST00000522353.2 + 1 2229 c.2229C>T c.(2227-2229)agC>agT p.S743S PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 p.S743S(4)|p.S743R(2) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGCTCCAGCGCGGTGGGGA 0.637000 52 106 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr20:23967157A>G ENST00000335694.4 - 2 296 c.92T>C c.(91-93)aTg>aCg p.M31T GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity p.M31T(6) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTCATCCGGCATGTAGAACTC 0.622000 5 102 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400511 78400511 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr12:78400511G>A ENST00000397909.2 + 8 1366 c.1193G>A c.(1192-1194)cGc>cAc p.R398H NAV3_ENST00000228327.6_Missense_Mutation_p.R398H|NAV3_ENST00000536525.2_Missense_Mutation_p.R398H|NAV3_ENST00000266692.7_Missense_Mutation_p.R398H Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGCTTTACGCCCCCCGCAG 0.498000 HNSCC(70;0.22) 38 59 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113803456 113803456 + Silent SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr13:113803456C>T ENST00000375559.3 + 8 1130 c.1092C>T c.(1090-1092)ttC>ttT p.F364F F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 364 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAGCGGCTTCGGGCGCACCC 0.647000 30 21 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67433758 67433758 + Nonsense_Mutation SNP A A C TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chrX:67433758A>C ENST00000355520.5 - 7 1184 c.543T>G c.(541-543)taT>taG p.Y181* OPHN1_ENST00000540071.1_Nonsense_Mutation_p.Y181* NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 181 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 TTTGATAAACATAATCAAGAG 0.363000 3 5 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137424 40137424 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr11:40137424G>A ENST00000278198.2 - 2 2382 c.419C>T c.(418-420)cCg>cTg p.P140L LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140L Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 140 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AGCTCCATTCGGGATGGTAGT 0.423000 12 29 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144892705 144892705 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr8:144892705G>A ENST00000356994.2 - 13 1480 c.1474C>T c.(1474-1476)Cgg>Tgg p.R492W SCRIB_ENST00000320476.3_Missense_Mutation_p.R492W|SCRIB_ENST00000377533.3_Missense_Mutation_p.R411W NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 492 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCCTCGCTCCGCCGCCCCTCG 0.682000 19 148 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7845380 7845380 + Silent SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr6:7845380C>T ENST00000283147.6 + 2 831 c.672C>T c.(670-672)taC>taT p.Y224Y NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 224 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) TAGTGGAGTACGACAAGGAGT 0.478000 37 52 0 0 1 0 0 ZNF775 285971 broad.mit.edu 37 7 150094403 150094403 + Silent SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr7:150094403G>A ENST00000329630.5 + 3 941 c.834G>A c.(832-834)ccG>ccA p.P278P NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) cgggcgagccgcgccAGTTCA 0.741000 14 25 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324283 31324283 + Missense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr18:31324283G>A ENST00000269197.5 + 12 4471 c.4471G>A c.(4471-4473)Gtt>Att p.V1491I NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GACTGTCTCCGTTGAAAGCTC 0.557000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 53 0 0 1 0 0 FTL 2512 broad.mit.edu 37 19 49469955 49469955 + Missense_Mutation SNP A A C TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr19:49469955A>C ENST00000331825.6 + 4 698 c.491A>C c.(490-492)gAg>gCg p.E164A NM_000146.3 NP_000137.2 P02792 FRIL_HUMAN ferritin, light polypeptide 164 cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity cervix(1)|kidney(3)|lung(5) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) GGGCTGGGCGAGTATCTCTTC 0.552000 9 83 0 0 1 0 0 AC093838.4 0 broad.mit.edu 37 2 132266164 132266164 + RNA SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr2:132266164C>T ENST00000438378.2 + 0 1217 NR_026922.1 TCAAAAAATGCAGTCCCCTCA 0.453000 19 23 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 10 18 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121913292 TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr10:89692904C>G ENST00000371953.3 + 5 1745 c.388C>G c.(388-390)Cga>Gga p.R130G NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGGAAAGGGACGAACTGGTGT 0.403000 R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 29 36 0 0 1 0 0 LINC00854 0 broad.mit.edu 37 17 41382190 41382190 + RNA SNP G G C rs2356314 TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr17:41382190G>C ENST00000433702.2 - 0 14 NR_047479.1 aacaactgctgcaagaggggc 0.532000 12 27 0 0 1 0 0 AC093642.5 0 broad.mit.edu 37 2 243056818 243056818 + RNA SNP C C T rs140719525 by1000genomes TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr2:243056818C>T ENST00000456398.1 + 0 339 TGGAGAAATACTCAATAATGA 0.269000 3 24 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52858518 52858518 + Missense_Mutation SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr3:52858518C>T ENST00000266041.4 - 8 1036 c.940G>A c.(940-942)Gtc>Atc p.V314I ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.V314I|ITIH4_ENST00000485816.1_Missense_Mutation_p.V314I|ITIH4_ENST00000434759.3_Missense_Mutation_p.V226I|ITIH4_ENST00000346281.5_Missense_Mutation_p.V314I NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 314 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GTACTGAAGACGATGAGGTTG 0.572000 14 71 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 5 79 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30034018 30034018 + Missense_Mutation SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr11:30034018C>T ENST00000328224.6 - 2 1441 c.208G>A c.(208-210)Gcc>Acc p.A70T NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 70 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GAGGTACAGGCCCCGCGTGAC 0.662000 13 66 0 0 1 0 0 ZC3H10 84872 broad.mit.edu 37 12 56515410 56515410 + Missense_Mutation SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr12:56515410C>T ENST00000257940.2 + 3 1340 c.1064C>T c.(1063-1065)cCc>cTc p.P355L RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 355 Pro-rich. nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) CCACCCCCACCCCCACACTTG 0.627000 25 46 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754280 76754280 + Silent SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr18:76754280C>T ENST00000536229.3 + 1 2599 c.1890C>T c.(1888-1890)ggC>ggT p.G630G SALL3_ENST00000537592.2_Silent_p.G763G|SALL3_ENST00000575389.2_Silent_p.G763G Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 763 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TGCACATGGGCGGCCAGATCC 0.652000 24 40 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17023110 17023110 + RNA SNP G G A rs11260887 by1000genomes TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:17023110G>A ENST00000492551.1 - 0 1753 NR_026567.1 GTTGAGCAGCGGCTGAAACCC 0.687000 5 21 0 0 1 0 0 UGT1A6 0 broad.mit.edu 37 2 234601884 234601884 + Nonsense_Mutation SNP T T G TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr2:234601884T>G ENST00000305139.6 + 1 373 c.234T>G c.(232-234)taT>taG p.Y78* UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) GAAAAATCTATCCAGTGCCGT 0.423000 29 49 0 0 1 0 0 MBIP 51562 broad.mit.edu 37 14 36780847 36780847 + Missense_Mutation SNP C C T rs140089260 TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr14:36780847C>T ENST00000416007.4 - 6 809 c.722G>A c.(721-723)cGa>cAa p.R241Q MBIP_ENST00000318473.7_Missense_Mutation_p.R241Q|MBIP_ENST00000359527.7_Missense_Mutation_p.R241Q|MBIP_ENST00000603913.1_5'UTR NM_001144891.1|NM_016586.2 NP_001138363.1|NP_057670.2 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 241 Interaction with MAP3K12. histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity breast(2)|large_intestine(1)|lung(5) 8 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) ACCACAGTCTCGAAGCATGCT 0.428000 11 25 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33572744 33572744 + Missense_Mutation SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr20:33572744C>T ENST00000262873.7 + 10 954 c.862C>T c.(862-864)Cgc>Tgc p.R288C NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 246 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TAACTCCTCCCGCTTTGTGAG 0.652000 31 65 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57871401 57871401 + Silent SNP G G T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr12:57871401G>T ENST00000393797.2 - 7 1002 c.810C>A c.(808-810)cgC>cgA p.R270R ARHGAP9_ENST00000356411.2_Silent_p.R199R|ARHGAP9_ENST00000424809.2_Silent_p.R199R|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000550288.1_Silent_p.R278R|ARHGAP9_ENST00000393791.3_Silent_p.R199R|ARHGAP9_ENST00000430041.2_Silent_p.R15R Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 199 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) ACCGAGGACAGCGGCGAAGGT 0.647000 23 55 3.5997e-14 3.8054e-14 1 1 0 ILF3 3609 broad.mit.edu 37 19 10781723 10781723 + Missense_Mutation SNP A A T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr19:10781723A>T ENST00000449870.1 + 3 394 c.77A>T c.(76-78)gAg>gTg p.E26V ILF3_ENST00000420083.1_Missense_Mutation_p.E26V|ILF3_ENST00000318511.3_Missense_Mutation_p.E26V|ILF3_ENST00000407004.3_Missense_Mutation_p.E26V|ILF3_ENST00000592763.1_Missense_Mutation_p.E26V|ILF3_ENST00000589998.1_Missense_Mutation_p.E26V|ILF3_ENST00000250241.8_Missense_Mutation_p.E26V|ILF3_ENST00000590261.1_Missense_Mutation_p.E26V|ILF3_ENST00000588657.1_Missense_Mutation_p.E26V NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 26 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CCAACACAAGAGGAGCTGGAG 0.502000 7 22 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95718733 95718733 + Missense_Mutation SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr11:95718733C>T ENST00000524717.1 - 4 3701 c.2417G>A c.(2416-2418)aGa>aAa p.R806K NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 806 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GCCCACATTTCTTCTTTGGTC 0.323000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 5 15 0 0 1 0 0 HM13 81502 broad.mit.edu 37 20 30155955 30155955 + Missense_Mutation SNP C C G TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr20:30155955C>G ENST00000335574.5 + 12 1233 c.1109C>G c.(1108-1110)gCc>gGc p.A370G HM13_ENST00000398174.3_Missense_Mutation_p.A370G|HM13_ENST00000492709.1_Intron|HM13_ENST00000340852.5_Intron|HM13_ENST00000376127.3_Intron|HM13-AS1_ENST00000412178.1_RNA NM_178580.1 NP_848695.1 Q8TCT9 HM13_HUMAN histocompatibility (minor) 13 366 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) GGCTCCCCAGCCAGCCTGGCC 0.662000 4 37 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122599593 122599593 + Nonsense_Mutation SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chrX:122599593G>A ENST00000264357.5 + 14 2685 c.2393G>A c.(2392-2394)tGg>tAg p.W798* GRIA3_ENST00000371251.1_Nonsense_Mutation_p.W798*|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W798* NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 798 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) AAAAACAAATGGTGGTACGAC 0.458000 16 36 0 0 1 0 0 RP11-85G18.6 0 broad.mit.edu 37 10 27538420 27538420 + RNA SNP G G C TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr10:27538420G>C ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA ACTGTGGCTTGAGTCAGGTTT 0.498000 71 77 0 0 1 0 0 SOX4 6659 broad.mit.edu 37 6 21596141 21596141 + Missense_Mutation SNP C C G TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr6:21596141C>G ENST00000244745.1 + 1 2170 c.1376C>G c.(1375-1377)tCg>tGg p.S459W SOX4_ENST00000543472.1_Missense_Mutation_p.S459W NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 459 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) GAGATGATCTCGGGAGACTGG 0.622000 4 16 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 15 0.115264 0.115264 1 1 0 EPHB1 2047 broad.mit.edu 37 3 134670597 134670597 + Missense_Mutation SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr3:134670597C>T ENST00000398015.3 + 3 878 c.508C>T c.(508-510)Cgg>Tgg p.R170W EPHB1_ENST00000488154.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 170 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GCCTCTTACTCGGAATGGTTT 0.463000 94 117 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88679256 88679256 + Missense_Mutation SNP T T A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr15:88679256T>A ENST00000394480.1 - 9 1102 c.781A>T c.(781-783)Acc>Tcc p.T261S NTRK3_ENST00000557856.1_Missense_Mutation_p.T261S|NTRK3_ENST00000542733.2_Missense_Mutation_p.T163S|NTRK3_ENST00000355254.2_Missense_Mutation_p.T261S|NTRK3_ENST00000540489.2_Missense_Mutation_p.T261S|NTRK3_ENST00000317501.3_Missense_Mutation_p.T261S|NTRK3_ENST00000357724.2_Missense_Mutation_p.T261S|NTRK3_ENST00000360948.2_Missense_Mutation_p.T261S|NTRK3_ENST00000558676.1_Missense_Mutation_p.T261S NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 261 Ig-like C2-type 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TGAACATTGGTCCAGTTCAGA 0.458000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 6 62 0 0 1 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054319 160054319 + Missense_Mutation SNP C C T TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:160054319C>T ENST00000368088.3 + 2 741 c.499C>T c.(499-501)Cgc>Tgc p.R167C NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 167 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCCAACAAGCGCGCAGCCAC 0.652000 20 20 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134491532 134491532 + Silent SNP G G C TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr6:134491532G>C ENST00000367858.5 - 14 2052 c.1455C>G c.(1453-1455)acC>acG p.T485T SGK1_ENST00000413996.3_Silent_p.T404T|SGK1_ENST00000367857.5_Silent_p.T380T|SGK1_ENST00000528577.1_Silent_p.T418T|SGK1_ENST00000237305.7_Silent_p.T390T|SGK1_ENST00000475719.2_Silent_p.T346T NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 390 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) CAGGCTCTTCGGTAAACTCGG 0.557000 36 55 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22161368 22161368 + Silent SNP G G A TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:22161368G>A ENST00000374695.3 - 77 10603 c.10524C>T c.(10522-10524)ttC>ttT p.F3508F NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3508 Ig-like C2-type 21. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCAGGCATTCGAACTCCACGG 0.637000 25 49 0 0 1 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 706330 706331 + RNA INS - - G TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:706330_706331insG ENST00000428504.1 - 0 585 NR_033908.1 CCACTGCCTGAGGGGGGGGAGG 0.609 4 2 --- --- --- --- AGRN 375790 broad.mit.edu 37 1 985167 985168 + Frame_Shift_Ins INS - - C TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:985167_985168insC ENST00000379370.2 + 26 4786_4787 c.4736_4737insC c.(4735-4737)gcgfs p.A1579fs NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1579 EGF-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TGCCCGCCCGGCCGCGTCGGTG 0.752 9 21 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17019526 17019526 + RNA DEL G G - rs67654214 TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:17019526delG ENST00000492551.1 - 0 1938 NR_026567.1 AGCAGCTGCCGCAGCCGTTCG 0.766 4 2 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 10 3 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:27100182_27100184delGCA ENST00000324856.7 + 16 4349_4351 c.3978_3980delGCA c.(3976-3981)ccg>cc p.PQ1326del ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1326 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1327*(1)|p.Q1334delQ(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCTACCCCCCgcagcagcagcag 0.591 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 9 155 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145115028 145115028 + RNA DEL T T - rs139627460 TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr1:145115028delT ENST00000453618.1 + 0 820 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding TTTACTTGCGTTTTTTTTTGT 0.284 2 4 --- --- --- --- TMF1 7110 broad.mit.edu 37 3 69084233 69084237 + Frame_Shift_Del DEL CTGTA CTGTA - TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr3:69084233_69084237delCTGTA ENST00000543976.1 - 9 2436_2440 c.2190_2194delTACAG c.(2188-2196)cgaafs p.RTE730fs CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.RTE727fs|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 727 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GCCGCTTGTTCTGTACGCTGCAATG 0.434 8 132 --- --- --- --- AF146191.4 0 broad.mit.edu 37 4 190767746 190767746 + RNA DEL C C - TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr4:190767746delC ENST00000511785.1 - 0 425 attctccgtgccgtgtccctc 0.627 2 4 --- --- --- --- RP11-423H2.3 0 broad.mit.edu 37 5 177388625 177388625 + RNA DEL G G - TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr5:177388625delG ENST00000507072.1 + 0 417 RP11-1252I4.2_ENST00000511650.1_RNA AGGAGGGAGCGTGGCAGAGGG 0.617 3 5 --- --- --- --- DMWD 1762 broad.mit.edu 37 19 46289096 46289098 + In_Frame_Del DEL CCA CCA - TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr19:46289096_46289098delCCA ENST00000270223.6 - 3 1701_1703 c.1656_1658delTGG c.(1654-1659)ggc>gg p.GG552del AC011530.4_ENST00000593999.1_In_Frame_Del_p.VA47del|DMWD_ENST00000377735.3_In_Frame_Del_p.GG552del NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 552 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GCCGCCACTGCCACCCCGGCTGA 0.719 28 37 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11071214 11071215 + RNA INS - - C rs113940337 TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chr21:11071214_11071215insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gcagaccaattagggcttcagg 0.406 4 3 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-N6-A4VF-01A-31D-A28R-08 TCGA-N6-A4VF-11A-11D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc7bface-208b-486a-b554-868c2c150a47 e2d2cb02-4f0d-4b59-b69e-20d52775f899 g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 8 45 --- --- --- ---