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 RBL1 5933 broad.mit.edu 37 20 35632208 35632208 + Missense_Mutation SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr20:35632208C>T ENST00000373664.3 - 21 2999 c.2933G>A c.(2932-2934)cGc>cAc p.R978H RBL1_ENST00000344359.3_Missense_Mutation_p.R978H NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 978 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CTGGGAAATGCGGCGTGGTGA 0.453000 3 47 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153312923 153312923 + Missense_Mutation SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr1:153312923C>T ENST00000368739.3 - 7 1104 c.746G>A c.(745-747)cGc>cAc p.R249H PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R253H Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 253 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GACCAGCAGGCGGCACTCATC 0.542000 6 68 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292770 102292770 + RNA SNP C C T rs149751844 by1000genomes TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr15:102292770C>T ENST00000561463.1 + 0 816 AGCGGCGCGACGAGATGCTGC 0.597000 4 24 0 0 1 0 0 ZNF510 22869 broad.mit.edu 37 9 99521448 99521448 + Missense_Mutation SNP C C T rs143262029 TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr9:99521448C>T ENST00000375231.1 - 6 2314 c.1664G>A c.(1663-1665)cGa>cAa p.R555Q ZNF510_ENST00000223428.4_Missense_Mutation_p.R555Q Q9Y2H8 ZN510_HUMAN zinc finger protein 510 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) ATGATCTTTTCGCCAGAAGGA 0.413000 20 77 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 4 68 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 3 22 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820463 43820463 + Silent SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr15:43820463C>T ENST00000382031.1 + 5 7537 c.7506C>T c.(7504-7506)acC>acT p.T2502T MAP1A_ENST00000399453.1_Silent_p.T2264T|MAP1A_ENST00000300231.5_Silent_p.T2264T P78559 MAP1A_HUMAN microtubule-associated protein 1A 2264 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CTGAGGCTACCACGCCTGTGA 0.622000 42 38 0 0 1 0 0 RBM23 55147 broad.mit.edu 37 14 23371511 23371511 + Silent SNP G G A TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr14:23371511G>A ENST00000359890.3 - 11 1206 c.1011C>T c.(1009-1011)ggC>ggT p.G337G RBM23_ENST00000542016.2_Silent_p.G167G|RBM23_ENST00000399922.2_Silent_p.G321G|RBM23_ENST00000346528.5_Silent_p.G303G|RBM23_ENST00000555209.1_Silent_p.G87G NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 337 RRM 2. mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) CAGTCACATGGCCAACCCTCA 0.552000 3 38 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 20 0 0 1 0 0 EPO 2056 broad.mit.edu 37 7 100320669 100320669 + Silent SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr7:100320669C>T ENST00000252723.2 + 5 676 c.495C>T c.(493-495)ttC>ttT p.F165F NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 165 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CTGACACTTTCCGCAAACTCT 0.567000 86 45 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82308561 82308561 + Missense_Mutation SNP T T C TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr9:82308561T>C ENST00000376520.4 + 8 1433 c.605T>C c.(604-606)cTc>cCc p.L202P TLE4_ENST00000376552.2_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376534.4_Intron|TLE4_ENST00000376544.3_Missense_Mutation_p.L202P|TLE4_ENST00000376537.4_Intron O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AGAGACAAACTCAACCACAAA 0.433000 7 11 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112522827 112522827 + Missense_Mutation SNP G G A TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr6:112522827G>A ENST00000230538.7 - 5 882 c.485C>T c.(484-486)gCt>gTt p.A162V LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 162 Laminin EGF-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GTTAGGTCCAGCATAATTTTC 0.388000 4 243 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563184 75563184 + Missense_Mutation SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr16:75563184C>T ENST00000336257.3 - 3 2493 c.1099G>A c.(1099-1101)Gtg>Atg p.V367M RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V373M NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 367 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 ACCTCCTGCACGCGCAGGATC 0.652000 13 23 0 0 1 0 0 ATF1 466 broad.mit.edu 37 12 51213461 51213461 + Missense_Mutation SNP A A C TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr12:51213461A>C ENST00000262053.3 + 7 737 c.715A>C c.(715-717)Aaa>Caa p.K239Q ATF1_ENST00000539132.1_Missense_Mutation_p.K104Q NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 239 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 AGAATATGTGAAATGCCTGGA 0.313000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 18 29 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27751697 27751697 + Silent SNP C C A TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr16:27751697C>A ENST00000261588.4 + 15 2098 c.2079C>A c.(2077-2079)tcC>tcA p.S693S NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 693 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 ACAGTTTGTCCCAGTTAGAGG 0.498000 4 96 1.23904e-05 1.28034e-05 1 1 0 GREB1 9687 broad.mit.edu 37 2 11755408 11755408 + Missense_Mutation SNP G G C TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr2:11755408G>C ENST00000381486.2 + 20 3614 c.3314G>C c.(3313-3315)gGg>gCg p.G1105A GREB1_ENST00000234142.5_Missense_Mutation_p.G1105A|GREB1_ENST00000396123.1_Missense_Mutation_p.G103A NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1105 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GAGGAGCTGGGGACAGAAGGT 0.567000 5 3 0 0 1 0 0 ACAT2 39 broad.mit.edu 37 6 160184039 160184039 + Silent SNP T T G TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr6:160184039T>G ENST00000367048.4 + 2 1904 c.144T>G c.(142-144)gcT>gcG p.A48A ACAT2_ENST00000541436.1_Silent_p.A77A NM_005891.2 NP_005882.2 Q9BWD1 THIC_HUMAN acetyl-CoA acetyltransferase 2 48 mitochondrion|nucleolus acetyl-CoA C-acetyltransferase activity|protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 9 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCACTGTGGCTCCGGAAGATG 0.488000 13 78 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr16:71054178T>C ENST00000393567.2 - 22 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077 I -> V (in dbSNP:rs6416709). p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418000 3 32 0 0 1 0 0 MECP2 4204 broad.mit.edu 37 X 153296731 153296731 + Missense_Mutation SNP C C T TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chrX:153296731C>T ENST00000303391.6 - 4 797 c.548G>A c.(547-549)gGa>gAa p.G183E MECP2_ENST00000453960.2_Missense_Mutation_p.G195E|MECP2_ENST00000407218.1_Missense_Mutation_p.E147K NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 183 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTGCCAGTTCCTGGAGCTTT 0.597000 10 45 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887579 12887579 + Missense_Mutation SNP G G T rs2486717 by1000genomes TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr1:12887579G>T ENST00000535591.1 - 3 473 c.278C>A c.(277-279)aCa>aAa p.T93K NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 93 p.T93K(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CTGCACTGGTGTTTTGTTCCT 0.493000 5 271 0.000274275 0.000274275 1 1 0 KYNU 8942 broad.mit.edu 37 2 143715264 143715264 + Missense_Mutation SNP C C T rs147103103 TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr2:143715264C>T ENST00000264170.4 + 7 820 c.562C>T c.(562-564)Cgg>Tgg p.R188W KYNU_ENST00000409512.1_Missense_Mutation_p.R188W|KYNU_ENST00000375773.2_Missense_Mutation_p.R188W NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 188 R -> Q (in dbSNP:rs2304705). anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) AGAAAGTATGCGGATGATAAA 0.308000 3 49 0 0 1 0 0 UBA6-AS1 550112 broad.mit.edu 37 4 68632418 68632419 + RNA INS - - AT rs59536241 by1000genomes TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr4:68632418_68632419insAT ENST00000500538.2 + 0 1905 RP11-453E17.1_ENST00000502758.1_RNA cacacacacacaTATATATAct 0.431 5 2 --- --- --- --- COL21A1 81578 broad.mit.edu 37 6 55966307 55966307 + Frame_Shift_Del DEL G G - TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr6:55966307delG ENST00000244728.5 - 17 2172 c.1775delC c.(1774-1776)ctfs p.P592fs COL21A1_ENST00000370819.1_Frame_Shift_Del_p.P589fs|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.P592fs NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 592 Collagen-like 2. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CGGAGCACCAGGGGATCCTGC 0.383 2 4 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 6 5 --- --- --- --- PLCB3 5331 broad.mit.edu 37 11 64033973 64033980 + Frame_Shift_Del DEL GACGGAGA GACGGAGA - TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr11:64033973_64033980delGACGGAGA ENST00000540288.1 + 29 3466_3473 c.3363_3370delGACGGAGA c.(3361-3372)ctttfs p.LTEI1121fs PLCB3_ENST00000325234.5_Frame_Shift_Del_p.LTEI1054fs|PLCB3_ENST00000279230.6_Frame_Shift_Del_p.LTEI1121fs NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 1121 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GCAGGGAACTGACGGAGATTAACCGTCG 0.644 13 27 --- --- --- --- EHBP1L1 254102 broad.mit.edu 37 11 65352540 65352540 + Frame_Shift_Del DEL C C - TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr11:65352540delC ENST00000309295.4 + 12 3676 c.3411delC c.(3409-3411)atfs p.I1137fs NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 1137 CH. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 TGTGCCAGATCCGCGCCTTCT 0.716 2 4 --- --- --- --- REM2 161253 broad.mit.edu 37 14 23354529 23354529 + Frame_Shift_Del DEL T T - TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr14:23354529delT ENST00000267396.4 + 3 623 c.500delT c.(499-501)gtfs p.V167fs REM2_ENST00000536884.1_Intron NM_173527.2 NP_775798.2 Q8IYK8 REM2_HUMAN RAS (RAD and GEM)-like GTP binding 2 167 regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1) 5 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.012) ACTCTAGTCGTTTATGACATC 0.507 19 45 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29533281 29533293 + Frame_Shift_Del DEL GATTGATGCTGTG GATTGATGCTGTG - TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr17:29533281_29533293delGATTGATGCTGTG ENST00000358273.4 + 12 1667_1679 c.1284_1296delGATTGATGCTGTG c.(1282-1296)aafs p.KIDAV428fs NF1_ENST00000431387.4_Frame_Shift_Del_p.KIDAV428fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.KIDAV428fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 428 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) GGTGGCCTAAGATTGATGCTGTGTATTGTCACT 0.408 """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) 18 10 --- --- --- --- APC2 10297 broad.mit.edu 37 19 1465635 1465637 + In_Frame_Del DEL GAC GAC - TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr19:1465635_1465637delGAC ENST00000535453.1 + 14 4048_4050 c.2335_2337delGAC c.(2335-2337)del p.D782del APC2_ENST00000238483.4_In_Frame_Del_p.D508del|APC2_ENST00000233607.2_In_Frame_Del_p.D782del|C19orf25_ENST00000588427.1_Intron O95996 APC2_HUMAN adenomatosis polyposis coli 2 782 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCTGCTTTGACGACGACGATG 0.719 2 4 --- --- --- --- ANKRD27 84079 broad.mit.edu 37 19 33116849 33116849 + Frame_Shift_Del DEL G G - rs35109898 byFrequency TCGA-S7-A7WL-01A-11D-A35I-08 TCGA-S7-A7WL-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 819a5f3c-350e-48ac-a62f-e9ad1b305b51 84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d g.chr19:33116849delG ENST00000306065.4 - 17 1718 c.1560delC c.(1558-1560)gcfs p.A520fs NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 520 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) CTTCCGCGCTGGCCTTGTAGT 0.647 2 4 --- --- --- ---