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 SEZ6 124925 broad.mit.edu 37 17 27283247 27283247 + Missense_Mutation SNP C C G TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr17:27283247C>G ENST00000317338.12 - 16 3310 c.2882G>C c.(2881-2883)cGc>cCc p.R961P SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000335960.6_Silent_p.P493P Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 961 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) ggggcgggggcggggCAGCTG 0.582000 4 9 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66950296 66950296 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr16:66950296C>T ENST00000299752.4 - 4 359 c.166G>A c.(166-168)Gtg>Atg p.V56M CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.V56M|CDH16_ENST00000565796.1_Missense_Mutation_p.V56M|CDH16_ENST00000568632.1_Missense_Mutation_p.V56M NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 56 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCTGACAGCACGATCTGGCCT 0.622000 15 23 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 4 104 3.59834e-05 3.68829e-05 1 1 0 WISP1 8840 broad.mit.edu 37 8 134225313 134225313 + Silent SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr8:134225313C>T ENST00000250160.6 + 2 382 c.276C>T c.(274-276)atC>atT p.I92I WISP1_ENST00000220856.6_Silent_p.I92I|WISP1_ENST00000517423.1_Silent_p.I92I|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 92 IGFBP N-terminal. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) AGGCTGCCATCTGTGACCCCC 0.617000 49 75 0 0 1 0 0 GJA4 2701 broad.mit.edu 37 1 35260639 35260639 + Silent SNP C C A TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr1:35260639C>A ENST00000342280.4 + 2 913 c.825C>A c.(823-825)tcC>tcA p.S275S NM_002060.2 NP_002051.2 P35212 CXA4_HUMAN gap junction protein, alpha 4, 37kDa 275 cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GGCCCTCATCCCCACCATGCC 0.647000 3 17 6.4e-05 6.4e-05 1 1 0 NIPBL 25836 broad.mit.edu 37 5 37022199 37022199 + Missense_Mutation SNP C C A TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr5:37022199C>A ENST00000282516.8 + 28 5874 c.5375C>A c.(5374-5376)gCc>gAc p.A1792D NIPBL_ENST00000448238.2_Missense_Mutation_p.A1792D NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1792 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CGAACAAAAGCCATGAAGTGT 0.343000 13 35 6.31663e-08 6.81531e-08 1 1 0 HPCAL4 51440 broad.mit.edu 37 1 40148368 40148368 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr1:40148368C>T ENST00000372844.3 - 4 807 c.416G>A c.(415-417)cGc>cAc p.R139H NM_016257.2 NP_057341.1 Q9UM19 HPCL4_HUMAN hippocalcin like 4 139 central nervous system development intracellular calcium ion binding breast(1)|central_nervous_system(1)|lung(5)|stomach(1) 8 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTGGTTCATGCGCATCATGAT 0.567000 3 49 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 195 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218712917 218712917 + Missense_Mutation SNP A A G TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr2:218712917A>G ENST00000171887.4 - 17 2400 c.1948T>C c.(1948-1950)Tgg>Cgg p.W650R TNS1_ENST00000419504.1_Missense_Mutation_p.W650R|TNS1_ENST00000430930.1_Missense_Mutation_p.W650R NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 650 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) tgctgctgcCACGAATTCAGT 0.642000 3 22 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7809893 7809893 + Silent SNP G G A rs61742035 TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr19:7809893G>A ENST00000315599.7 - 5 856 c.834C>T c.(832-834)caC>caT p.H278H CD209_ENST00000394173.4_Silent_p.H117H|CD209_ENST00000602261.1_Silent_p.H186H|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Silent_p.H208H|CD209_ENST00000593821.1_Silent_p.H142H|CD209_ENST00000301357.8_Silent_p.H142H|CD209_ENST00000601256.1_Silent_p.H254H|CD209_ENST00000315591.8_Silent_p.H254H|CD209_ENST00000601951.1_Silent_p.H254H|CD209_ENST00000354397.6_Silent_p.H278H|CD209_ENST00000204801.8_Silent_p.H234H NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 278 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGATGGAGTCGTGCCAGTTCC 0.587000 45 60 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84586012 84586012 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chrX:84586012C>T ENST00000262753.4 - 7 942 c.797G>A c.(796-798)cGt>cAt p.R266H POF1B_ENST00000373145.3_Missense_Mutation_p.R266H NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 266 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CGTATTCTTACGGCTCAGATC 0.383000 26 5 0 0 1 0 0 FUT7 2529 broad.mit.edu 37 9 139925576 139925576 + Silent SNP G G A TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr9:139925576G>A ENST00000314412.6 - 2 1633 c.615C>T c.(613-615)gcC>gcT p.A205A C9orf139_ENST00000314330.2_Intron NM_004479.3 NP_004470.1 Q11130 FUT7_HUMAN fucosyltransferase 7 (alpha (1,3) fucosyltransferase) 205 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1) 8 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) GCCGTCCATTGGCACGGCCAA 0.647000 6 297 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62214622 62214622 + Missense_Mutation SNP C C A rs115472982 by1000genomes TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr15:62214622C>A ENST00000261517.5 - 54 7022 c.6949G>T c.(6949-6951)Gct>Tct p.A2317S VPS13C_ENST00000395898.3_Missense_Mutation_p.A2274S|VPS13C_ENST00000395896.4_Missense_Mutation_p.A2317S|VPS13C_ENST00000249837.3_Missense_Mutation_p.A2274S NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2317 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GCAACAGCAGCCATTAGAGAA 0.378000 17 89 3.41278e-10 3.78173e-10 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139412278 139412278 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr9:139412278C>T ENST00000277541.6 - 8 1442 c.1367G>A c.(1366-1368)tGc>tAc p.C456Y NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 456 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTTCGAGACGCACTCGTTGAC 0.662000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 67 37 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6707823 6707823 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr19:6707823C>T ENST00000245907.6 - 15 2055 c.1963G>A c.(1963-1965)Gcc>Acc p.A655T NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 655 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GCCCTCTGGGCGGTCTGCTGG 0.672000 73 82 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 4 25 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107823773 107823773 + Missense_Mutation SNP G G T rs104886070 TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chrX:107823773G>T ENST00000328300.6 + 14 1035 c.791G>T c.(790-792)gGt>gTt p.G264V COL4A5_ENST00000361603.2_Missense_Mutation_p.G264V NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 264 Triple-helical region. G -> R (in APSX; adult type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGACTTCCTGGTGACCGAGGG 0.428000 Alport syndrome with Diffuse Leiomyomatosis 64 5 5.61366e-43 6.76941e-43 1 1 0 SMCO3 440087 broad.mit.edu 37 12 14959571 14959571 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr12:14959571C>T ENST00000316048.2 - 2 116 c.44G>A c.(43-45)cGg>cAg p.R15Q C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron NM_001013698.2 NP_001013720.2 single-pass membrane protein with coiled-coil domains 3 p.R15L(1) TACTTCTTCCCGCCTTTTTGG 0.393000 61 75 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63855167 63855167 + Missense_Mutation SNP T T C TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr15:63855167T>C ENST00000268049.7 + 9 979 c.655T>C c.(655-657)Tcc>Ccc p.S219P USP3_ENST00000559711.1_Missense_Mutation_p.S152P|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.S224P|USP3_ENST00000539772.1_5'UTR|USP3_ENST00000540797.1_Missense_Mutation_p.S197P|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000380324.3_Missense_Mutation_p.S241P Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 241 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) TAGCCCAGAGTCCTTATTTTA 0.358000 4 119 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C T rs121913503 TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr15:90631838C>T ENST00000330062.3 - 4 628 c.515G>A c.(514-516)aGg>aAg p.R172K IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172K(116)|p.R172M(21)|p.R172N(1) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) ATGGGCGTGCCTGCCAATGGT 0.632000 M GBM 51 56 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63966612 63966612 + Missense_Mutation SNP G G A TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr15:63966612G>A ENST00000443617.2 - 38 7862 c.7775C>T c.(7774-7776)gCg>gTg p.A2592V NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2592 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CATGGCTTGCGCTCGTTCCAG 0.448000 17 50 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78319360 78319360 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr17:78319360C>T ENST00000582970.1 + 29 7368 c.7225C>T c.(7225-7227)Cgg>Tgg p.R2409W RNF213_ENST00000336301.6_Missense_Mutation_p.R482W|RNF213_ENST00000508628.2_Missense_Mutation_p.R2458W NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CATCGAGATGCGGTTCCGGTG 0.537000 4 119 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 108 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100868815 100868815 + Silent SNP G G A TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr6:100868815G>A ENST00000369208.3 - 10 1800 c.1018C>T c.(1018-1020)Ctg>Ttg p.L340L SIM1_ENST00000262901.4_Silent_p.L340L P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 340 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GAGAGCTGCAGCCCTTTGTAT 0.507000 11 22 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42553330 42553330 + Missense_Mutation SNP G G T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr2:42553330G>T ENST00000318522.5 + 21 2541 c.2279G>T c.(2278-2280)cGa>cTa p.R760L EML4_ENST00000401738.3_Missense_Mutation_p.R771L|EML4_ENST00000453191.2_Missense_Mutation_p.R24L|EML4_ENST00000402711.2_Missense_Mutation_p.R702L NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 760 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 ATCAGGAATCGATCGGATTGT 0.368000 T ALK NSCLC 26 118 1.13719e-10 1.29513e-10 1 1 0 ANKIB1 54467 broad.mit.edu 37 7 91981897 91981897 + Silent SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr7:91981897C>T ENST00000265742.3 + 9 1714 c.1338C>T c.(1336-1338)ctC>ctT p.L446L NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 446 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTGATACACTCAGCTTCCCAT 0.433000 147 166 0 0 1 0 0 STX11 8676 broad.mit.edu 37 6 144508431 144508431 + Missense_Mutation SNP G G A TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr6:144508431G>A ENST00000367568.4 + 2 850 c.667G>A c.(667-669)Gac>Aac p.D223N NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 223 t-SNARE coiled-coil homology. cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) CCGCATCCGCGACGTACACGA 0.632000 Familial Hemophagocytic Lymphohistiocytosis 6 72 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 98 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 99045826 99045826 + Missense_Mutation SNP T T G TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr8:99045826T>G ENST00000254898.5 + 18 2985 c.2754T>G c.(2752-2754)tgT>tgG p.C918W MATN2_ENST00000520016.1_Missense_Mutation_p.C918W|MATN2_ENST00000521689.1_Missense_Mutation_p.C899W|MATN2_ENST00000522025.2_Missense_Mutation_p.C634W|MATN2_ENST00000524308.1_Missense_Mutation_p.C877W|RPL30_ENST00000518164.1_Intron NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 918 proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) AATGCAAATGTGAAAACCTTA 0.388000 8 9 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170112638 170112638 + Silent SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr2:170112638C>T ENST00000263816.3 - 19 3033 c.2748G>A c.(2746-2748)ccG>ccA p.P916P LRP2_ENST00000443831.1_Silent_p.P779P NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 916 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAAGTCCAAACGGATGTGTCA 0.373000 6 51 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123342218 123342218 + Silent SNP A A G TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr9:123342218A>G ENST00000349780.4 - 1 218 c.39T>C c.(37-39)ccT>ccC p.P13P CDK5RAP2_ENST00000360190.4_Silent_p.P13P|CDK5RAP2_ENST00000360822.3_Silent_p.P13P|CDK5RAP2_ENST00000359309.3_Silent_p.P13P NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 13 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 TGAGCGTCCCAGGGACGGTGA 0.662000 16 46 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1270406 1270406 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr11:1270406C>T ENST00000447027.1 + 31 12363 c.12305C>T c.(12304-12306)aCg>aTg p.T4102M RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T4099M Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4099 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCACGGCCACGGCCACACCC 0.701000 100 102 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14922122 14922122 + Missense_Mutation SNP T T C TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr3:14922122T>C ENST00000285046.5 + 3 2812 c.2702T>C c.(2701-2703)cTa>cCa p.L901P FGD5_ENST00000543601.1_Missense_Mutation_p.L660P NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 901 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CAGGAACTGCTATCTTCAGAG 0.532000 34 36 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324087 152324087 + Missense_Mutation SNP C C T TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr1:152324087C>T ENST00000388718.5 - 3 6247 c.6175G>A c.(6175-6177)Gga>Aga p.G2059R FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2059 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGACTCTCCATGTTGAGAT 0.527000 6 589 0 0 1 0 0 PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 8 429 --- --- --- --- PAICS 10606 broad.mit.edu 37 4 57316856 57316857 + Frame_Shift_Del DEL AG AG - TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr4:57316856_57316857delAG ENST00000514888.1 + 7 998_999 c.483_484delAG c.(481-486)gcagfs p.AE161fs PAICS_ENST00000264221.2_Frame_Shift_Del_p.AE253fs|PAICS_ENST00000399688.3_Frame_Shift_Del_p.AE260fs|PAICS_ENST00000512576.1_Frame_Shift_Del_p.AE253fs P22234 PUR6_HUMAN phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase 253 SAICAR synthetase. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1) 5 Glioma(25;0.08)|all_neural(26;0.101) L-Aspartic Acid(DB00128) AGTGGGTTGCAGAGAGAGTAGA 0.327 3 5 --- --- --- --- ZCWPW1 55063 broad.mit.edu 37 7 100014771 100014773 + In_Frame_Del DEL AAG AAG - TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr7:100014771_100014773delAAG ENST00000398027.2 - 6 642_644 c.395_397delCTT c.(394-399)tgt>t p.SC132del ZCWPW1_ENST00000490721.1_In_Frame_Del_p.SC11del|ZCWPW1_ENST00000324725.6_In_Frame_Del_p.SC11del|ZCWPW1_ENST00000360951.4_In_Frame_Del_p.SC132del NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 132 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCTGGGCACAAGAAGTCTCTGC 0.419 22 80 --- --- --- --- EPHB6 0 broad.mit.edu 37 7 142562309 142562309 + Frame_Shift_Del DEL G G - TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr7:142562309delG ENST00000392957.2 + 7 1538 c.751delG c.(751-753)ggfs p.G252fs EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 252 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGTGGGGCTGGGGGGGCCTC 0.682 7 251 --- --- --- --- ZNF503 84858 broad.mit.edu 37 10 77161101 77161106 + In_Frame_Del DEL CCGCCT CCGCCT - rs72126859 TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr10:77161101_77161106delCCGCCT ENST00000372524.4 - 1 558_563 c.72_77delAGGCGG c.(70-78)ggc>gg p.GGG24del ZNF503_ENST00000535216.1_In_Frame_Del_p.GGG24del NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 24 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) GTCTGCAccgccgcctccgcctccgc 0.718 2 4 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29665752 29665755 + Frame_Shift_Del DEL ACTT ACTT - TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr17:29665752_29665755delACTT ENST00000358273.4 + 46 7233_7236 c.6850_6853delACTT c.(6850-6855)acfs p.TY2284fs NF1_ENST00000356175.3_Frame_Shift_Del_p.TY2263fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.TY77fs|NF1_ENST00000417592.2_Intron NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2284 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.Y2285fs*5(6)|p.?(3)|p.Y2285fs*16(1) 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) AGGACCTGACACTTACAACAGTCA 0.319 """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) 67 19 --- --- --- --- SYNRG 11276 broad.mit.edu 37 17 35902548 35902549 + Frame_Shift_Del DEL GA GA - TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chr17:35902548_35902549delGA ENST00000339208.6 - 15 2867_2868 c.2727_2728delTC c.(2725-2730)tccafs p.SP909fs SYNRG_ENST00000346661.4_Frame_Shift_Del_p.SP909fs|SYNRG_ENST00000585472.1_Frame_Shift_Del_p.SP830fs|SYNRG_ENST00000345615.4_Frame_Shift_Del_p.SP831fs|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000394378.2_Frame_Shift_Del_p.SP831fs NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 909 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGGACAAATGGAGAGAGTTTTC 0.455 21 98 --- --- --- --- MAP3K15 389840 broad.mit.edu 37 X 19380935 19380938 + Frame_Shift_Del DEL CTCT CTCT - TCGA-DB-A4XG-01A-11D-A27K-08 TCGA-DB-A4XG-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 512b5735-cba4-4d39-ba83-00df05dc3ce2 b62dc580-39c1-4ed8-9772-90735574c16c g.chrX:19380935_19380938delCTCT ENST00000338883.4 - 26 3596_3599 c.3597_3600delAGAG c.(3595-3600)agfs p.RE1199fs MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.RE634fs|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.RE1031fs|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1199 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GATTCTGGTACTCTCTCTCTTTTT 0.328 26 58 --- --- --- ---