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 MUC7 4589 broad.mit.edu 37 4 71347534 71347534 + Missense_Mutation SNP G G A rs145866670 TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr4:71347534G>A ENST00000413702.1 + 4 1361 c.1073G>A c.(1072-1074)cGa>cAa p.R358Q MUC7_ENST00000304887.5_Missense_Mutation_p.R358Q|MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 358 extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) AAAATTTCTCGATTTCTTTTA 0.358000 14 24 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47851503 47851503 + Missense_Mutation SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr7:47851503G>A ENST00000289672.2 - 50 7543 c.7493C>T c.(7492-7494)aCg>aTg p.T2498M C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2498 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GAGACTCCCCGTAGGGAGGAT 0.582000 7 22 0 0 1 0 0 LRRC59 55379 broad.mit.edu 37 17 48465454 48465454 + Missense_Mutation SNP G G A rs140038553 TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr17:48465454G>A ENST00000225972.7 - 5 704 c.469C>T c.(469-471)Cgg>Tgg p.R157W NM_018509.3 NP_060979.2 Q96AG4 LRC59_HUMAN leucine rich repeat containing 59 157 endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) TGCCTCTCCCGCTCCTGATCT 0.527000 76 42 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161113291 161113291 + Missense_Mutation SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr5:161113291G>A ENST00000523217.1 + 2 336 c.94G>A c.(94-96)Gtc>Atc p.V32I GABRA6_ENST00000274545.5_Missense_Mutation_p.V32I|GABRA6_ENST00000522269.1_3'UTR NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 32 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCAGAAAACGTCAGTCGGAT 0.488000 TCGA Ovarian(5;0.080) 26 35 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260408 44260408 + Missense_Mutation SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr18:44260408G>A ENST00000315087.7 - 7 1388 c.728C>T c.(727-729)tCg>tTg p.S243L ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S212L|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S279L NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 243 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 CAGCAGCACCGACGCGTTCTC 0.607000 4 5 0 0 1 0 0 PCDHA1 0 broad.mit.edu 37 5 140166983 140166983 + Missense_Mutation SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr5:140166983G>A ENST00000504120.2 + 1 1108 c.1108G>A c.(1108-1110)Gcc>Acc p.A370T PCDHA1_ENST00000378133.3_Missense_Mutation_p.A370T|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A370T NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCGTCATCGCCCTCATCAC 0.527000 14 46 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234235841 234235841 + Missense_Mutation SNP G G C TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr2:234235841G>C ENST00000409110.1 + 7 740 c.510G>C c.(508-510)aaG>aaC p.K170N SAG_ENST00000449594.2_Missense_Mutation_p.K36N NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 170 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) AAATCCCCAAGAAGTAAGAGT 0.552000 69 50 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102474561 102474561 + Missense_Mutation SNP G G T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr14:102474561G>T ENST00000360184.4 + 29 6028 c.5864G>T c.(5863-5865)gGc>gTc p.G1955V NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1955 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GGTGCCTGGGGCTGCTTTGAC 0.587000 20 15 6.44725e-10 7.33653e-10 1 1 0 IPO9 55705 broad.mit.edu 37 1 201824023 201824023 + Missense_Mutation SNP T T C TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr1:201824023T>C ENST00000361565.4 + 8 952 c.883T>C c.(883-885)Tgg>Cgg p.W295R NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 295 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 GCCTATTGTTTGGAACACCCT 0.448000 13 63 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31040264 31040264 + Silent SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr19:31040264G>A ENST00000355537.3 + 4 3885 c.3738G>A c.(3736-3738)gcG>gcA p.A1246A NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.A1246A(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACCCCTTGGCGGGCCTGCCAA 0.632000 12 15 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4356345 4356345 + Missense_Mutation SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr17:4356345G>A ENST00000355530.2 + 8 1238 c.958G>A c.(958-960)Gtc>Atc p.V320I SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.V193I NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 320 lipid transport|transmembrane transport integral to membrane p.V320I(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 CATGACCGGCGTCATTGGGGT 0.572000 36 18 0 0 1 0 0 SOX4 6659 broad.mit.edu 37 6 21594838 21594838 + Missense_Mutation SNP G G T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr6:21594838G>T ENST00000244745.1 + 1 867 c.73G>T c.(73-75)Ggc>Tgc p.G25C SOX4_ENST00000543472.1_Missense_Mutation_p.G25C NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 25 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) CTCGGGCGCCGGCCTCGAGCT 0.731000 4 18 0.014758 0.0152192 1 1 0 EPHA8 2046 broad.mit.edu 37 1 22924293 22924293 + Silent SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr1:22924293G>A ENST00000166244.3 + 11 2127 c.2055G>A c.(2053-2055)gcG>gcA p.A685A NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 685 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGAGCGAGGCGTCCATCATGG 0.662000 71 56 0 0 1 0 0 RUNX3 864 broad.mit.edu 37 1 25228881 25228881 + Missense_Mutation SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr1:25228881G>A ENST00000399916.1 - 6 1460 c.1022C>T c.(1021-1023)cCg>cTg p.P341L RUNX3_ENST00000540420.1_Missense_Mutation_p.P234L|RUNX3_ENST00000338888.3_Missense_Mutation_p.P341L|RUNX3_ENST00000308873.6_Missense_Mutation_p.P327L NM_001031680.2 NP_001026850.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 327 Pro/Ser/Thr-rich. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) GTAGGGGGACGGGTTGGCCTG 0.692000 10 34 0 0 1 0 0 FAM86HP 0 broad.mit.edu 37 3 129824472 129824472 + RNA SNP G G A rs9713561 by1000genomes TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr3:129824472G>A ENST00000500074.2 - 0 157 GGACAGCCTCGTGCTGGGGGC 0.537000 5 38 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5222929 5222929 + Missense_Mutation SNP C C T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr5:5222929C>T ENST00000274181.7 + 11 1771 c.1633C>T c.(1633-1635)Cgt>Tgt p.R545C ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R545C NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 545 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GTGGTGCCATCGTATTGGAAG 0.368000 16 23 0 0 1 0 0 PCDHAC2 0 broad.mit.edu 37 5 140348188 140348188 + Missense_Mutation SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr5:140348188G>A ENST00000289269.5 + 1 2369 c.1837G>A c.(1837-1839)Gac>Aac p.D613N PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 613 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATGGACTCAGACTCTGGGCA 0.512000 3 32 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55653246 55653246 + Silent SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr11:55653246G>A ENST00000449290.2 + 2 434 c.342G>A c.(340-342)ccG>ccA p.P114P NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 114 intracellular zinc ion binding TCTGTTTGCCGTGCTCCAACT 0.507000 9 11 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9987317 9987317 + Missense_Mutation SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr4:9987317G>A ENST00000506583.1 - 6 641 c.424C>T c.(424-426)Cgc>Tgc p.R142C SLC2A9_ENST00000309065.3_Missense_Mutation_p.R142C|SLC2A9_ENST00000264784.3_Missense_Mutation_p.R171C Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 171 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 ATGATGAAGCGTCCCACGATG 0.517000 12 29 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470654 10470654 + Silent SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr8:10470654G>A ENST00000382483.3 - 4 1177 c.954C>T c.(952-954)gaC>gaT p.D318D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 318 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ACAGGCTGCCGTCCTCATTCA 0.662000 51 49 0 0 1 0 0 HIRIP3 8479 broad.mit.edu 37 16 30006466 30006466 + Missense_Mutation SNP T T C TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr16:30006466T>C ENST00000279392.3 - 3 1089 c.259A>G c.(259-261)Agc>Ggc p.S87G HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.S87G NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 87 chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 TCCGGGTCGCTACAAGGGGTG 0.552000 9 109 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) 5 3 0 0 1 0 0 LTA4H 4048 broad.mit.edu 37 12 96410892 96410892 + Splice_Site SNP C C G TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr12:96410892C>G ENST00000228740.2 - 10 1018 c.876_splice c.e10-1 p.V293_splice LTA4H_ENST00000552789.1_Splice_Site_p.V269_splice|LTA4H_ENST00000413268.2_Splice_Site_p.V269_splice NM_000895.2 NP_000886.1 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 293 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12 TGTGCAATGACCTAAAGAAAA 0.299000 27 20 0 0 1 0 0 ATF4P4 0 broad.mit.edu 37 11 113659993 113659993 + RNA SNP A A C rs906846 by1000genomes TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr11:113659993A>C ENST00000393544.2 + 0 41 GGCAGCATGTAGGTTGCAGGG 0.657000 3 26 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186383868 186383868 + Silent SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr3:186383868G>A ENST00000232003.4 + 1 128 c.48G>A c.(46-48)tcG>tcA p.S16S HRG_ENST00000468154.1_3'UTR NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 16 fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) TGCAGTATTCGTGTGCCGTGA 0.468000 12 40 0 0 1 0 0 OR2V2 285659 broad.mit.edu 37 5 180582042 180582042 + Missense_Mutation SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr5:180582042G>A ENST00000328275.1 + 1 100 c.100G>A c.(100-102)Gcg>Acg p.A34T NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 34 A -> V (in dbSNP:rs17617270). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGTGGTTATGGCGGTCTTCAC 0.537000 38 84 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058330 11058330 + RNA SNP G G A rs138162498 TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr21:11058330G>A 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) ATCGCTGAAAGGGGTAAAGGA 0.378000 6 67 0 0 1 0 0 ZNF654 55279 broad.mit.edu 37 3 88189554 88189554 + Missense_Mutation SNP T T C TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr3:88189554T>C ENST00000309495.5 + 1 1301 c.1094T>C c.(1093-1095)gTt>gCt p.V365A CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) AGTCTGCCAGTTTCTACTAGC 0.358000 6 15 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79387412 79387412 + Silent SNP C C T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr4:79387412C>T ENST00000264895.6 + 50 7520 c.7080C>T c.(7078-7080)atC>atT p.I2360I NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2359 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATGGCACCATCGAGCGAACCA 0.547000 24 54 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71887771 71887771 + Missense_Mutation SNP G G A rs147056383 by1000genomes TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr2:71887771G>A ENST00000258104.3 + 44 5153 c.4876G>A c.(4876-4878)Gta>Ata p.V1626I DYSF_ENST00000394120.2_Missense_Mutation_p.V1627I|DYSF_ENST00000409744.1_Missense_Mutation_p.V1634I|DYSF_ENST00000409366.1_Missense_Mutation_p.V1648I|DYSF_ENST00000410020.3_Missense_Mutation_p.V1665I|DYSF_ENST00000409582.3_Missense_Mutation_p.V1664I|DYSF_ENST00000409762.1_Missense_Mutation_p.V1643I|DYSF_ENST00000413539.2_Missense_Mutation_p.V1657I|DYSF_ENST00000410041.1_Missense_Mutation_p.V1644I|DYSF_ENST00000409651.1_Missense_Mutation_p.V1658I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.V1647I NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1626 C2 5. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GCTGGAGCCCGTATTTGGAAA 0.507000 5 28 0 0 1 0 0 OTUD7A 161725 broad.mit.edu 37 15 31776380 31776380 + Missense_Mutation SNP C C T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr15:31776380C>T ENST00000382902.1 - 11 2011 c.1919G>A c.(1918-1920)cGc>cAc p.R640H OTUD7A_ENST00000307050.4_Missense_Mutation_p.R633H Q8TE49 OTU7A_HUMAN OTU domain containing 7A 633 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GATGAACTTGCGCTCCCCCTG 0.672000 5 11 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31473467 31473467 + Silent SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr6:31473467G>A ENST00000252229.6 + 2 223 c.144G>A c.(142-144)gaG>gaA p.E48E MICB_ENST00000399150.3_Silent_p.E48E|MICB_ENST00000538442.1_Silent_p.E16E NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 48 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 TTCTCGCTGAGGGACATCTGG 0.557000 25 21 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8415150 8415150 + Missense_Mutation SNP T T G TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr1:8415150T>G ENST00000337907.3 - 24 5332 c.4698A>C c.(4696-4698)ttA>ttC p.L1566F RERE_ENST00000476556.1_Missense_Mutation_p.L1012F|RERE_ENST00000377464.1_Missense_Mutation_p.L1298F|RERE_ENST00000400907.2_Missense_Mutation_p.L584F|RERE_ENST00000400908.2_Missense_Mutation_p.L1566F NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1566 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AAATAACTTATAACTGCTTGT 0.438000 17 14 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 6 120 0.0215528 0.0218843 1 1 0 PCNX 22990 broad.mit.edu 37 14 71444691 71444691 + Missense_Mutation SNP C C T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr14:71444691C>T ENST00000304743.2 + 6 2083 c.1637C>T c.(1636-1638)tCt>tTt p.S546F PCNX_ENST00000238570.5_Missense_Mutation_p.S546F|PCNX_ENST00000439984.3_Missense_Mutation_p.S546F NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 546 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CGACCTAAATCTTCTAGCGTA 0.468000 22 22 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227876966 227876966 + Missense_Mutation SNP C C T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr2:227876966C>T ENST00000396625.3 - 45 4471 c.4264G>A c.(4264-4266)Gtc>Atc p.V1422I COL4A4_ENST00000329662.7_Missense_Mutation_p.V1419I NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1422 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GACCCAGGGACGCCATCCACA 0.567000 15 31 0 0 1 0 0 BEST2 54831 broad.mit.edu 37 19 12866569 12866569 + Silent SNP C C T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr19:12866569C>T ENST00000549706.1 + 7 1179 c.855C>T c.(853-855)gcC>gcT p.A285A BEST2_ENST00000042931.1_Silent_p.A285A|BEST2_ENST00000553030.1_Silent_p.A285A Q8NFU1 BEST2_HUMAN bestrophin 2 285 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 TCTTCTACGCCGGCTGGCTCA 0.582000 3 30 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 26 0 0 1 0 0 TDG 6996 broad.mit.edu 37 12 104374741 104374741 + Splice_Site SNP G G T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr12:104374741G>T ENST00000392872.3 + 4 712 c.e4+1 TDG_ENST00000542036.1_Splice_Site|TDG_ENST00000544861.1_Splice_Site|TDG_ENST00000266775.9_Splice_Site NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) AACCATTTTTGTAAGTGGTTA 0.318000 Base excision repair (BER), DNA glycosylases 33 12 1.26612e-14 1.46603e-14 1 1 0 NCMAP 400746 broad.mit.edu 37 1 24932146 24932146 + Missense_Mutation SNP G G A rs113438005 TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr1:24932146G>A ENST00000374392.2 + 4 283 c.217G>A c.(217-219)Gcc>Acc p.A73T NCMAP_ENST00000486262.1_3'UTR NM_001010980.4 NP_001010980.1 noncompact myelin associated protein CAAGCCAACCGCCCCTTCTGC 0.592000 12 43 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76371628 76371628 + Missense_Mutation SNP G G T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr11:76371628G>T ENST00000407242.2 - 3 1251 c.1009C>A c.(1009-1011)Cac>Aac p.H337N AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.H337N|LRRC32_ENST00000404995.1_Missense_Mutation_p.H337N NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 337 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GAGGTCAGGTGCTCAAGAAAG 0.587000 9 17 0.00448238 0.00477157 1 1 0 SLC6A19 340024 broad.mit.edu 37 5 1217005 1217005 + Missense_Mutation SNP C C T TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr5:1217005C>T ENST00000304460.10 + 8 1174 c.1118C>T c.(1117-1119)gCg>gTg p.A373V NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 373 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.A373V(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCGACCCCGCGGCCTACGCG 0.622000 53 128 0 0 1 0 0 GRIN3B 116444 broad.mit.edu 37 19 1004802 1004802 + Silent SNP C C T rs139557341 TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr19:1004802C>T ENST00000234389.3 + 3 1321 c.1302C>T c.(1300-1302)gaC>gaT p.D434D GRIN3B_ENST00000588335.1_3'UTR NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 434 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GTGATCCAGACGAAGACGGGC 0.677000 4 73 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr21:11058248G>A ENST00000470054.1 - 0 399 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) GCAGCACAAGGATAATGATAC 0.433000 5 52 0 0 1 0 0 TTLL3 26140 broad.mit.edu 37 3 9870897 9870897 + Missense_Mutation SNP G G A TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr3:9870897G>A ENST00000383827.1 + 4 3017 c.736G>A c.(736-738)Gtg>Atg p.V246M ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.V519M|TTLL3_ENST00000547186.1_Missense_Mutation_p.V458M|TTLL3_ENST00000430793.1_Missense_Mutation_p.V246M|TTLL3_ENST00000397241.1_Missense_Mutation_p.V246M|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000455274.1_Missense_Mutation_p.V246M|TTLL3_ENST00000426895.4_Missense_Mutation_p.V601M|TTLL3_ENST00000427853.3_Missense_Mutation_p.V246M Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 458 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) CGCTGACTTCGTGTTCGGGGA 0.617000 33 21 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84284808 84284808 + Frame_Shift_Del DEL T T - TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr6:84284808delT ENST00000428679.2 - 26 2956 c.2363delA c.(2362-2364)agfs p.K788fs SNAP91_ENST00000195649.6_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.K758fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.K481fs|SNAP91_ENST00000439399.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000520213.1_Frame_Shift_Del_p.K481fs O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 788 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) ACCAGTCAACTTTTTCTCTCC 0.453 2 4 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174139 13174141 + RNA DEL AAA AAA - rs71436744 by1000genomes TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr12:13174139_13174141delAAA ENST00000543321.1 + 0 1025 tctctgtctcaaaaacaacaaca 0.547 2 4 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493647 77493648 + In_Frame_Ins INS - - GCG rs61991619 TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr14:77493647_77493648insGCG ENST00000238647.3 - 1 1386_1387 c.488_489insCGC c.(487-489)ggc>gCGCgc p.163_163G>AR NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 163 Poly-Ala. nucleus p.A164delA(1) endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GTTCCACCgcagcggcggcggc 0.748 3 5 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29527568 29527569 + Frame_Shift_Del DEL CT CT - TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 82900479-957f-424c-b32f-b1ecf4b1fd05 846758c1-5fd9-4c3a-bf82-66a60311bb64 g.chr17:29527568_29527569delCT ENST00000358273.4 + 9 1400_1401 c.1017_1018delCT c.(1015-1020)aactfs p.NS339fs NF1_ENST00000431387.4_Frame_Shift_Del_p.NS339fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.NS339fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 339 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GGGAAGATAACTCTGTCATTTT 0.381 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 17 8 --- --- --- ---