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 YTHDC1 91746 broad.mit.edu 37 4 69202911 69202911 + Silent SNP T T C TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr4:69202911T>C ENST00000344157.4 - 4 1052 c.717A>G c.(715-717)gaA>gaG p.E239E YTHDC1_ENST00000355665.3_Silent_p.E239E|YTHDC1_ENST00000579690.1_Silent_p.E239E NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 239 Glu-rich. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 cctcctcctcttcctcctcct 0.473000 8 11 0 0 1 0 0 BCL2L14 79370 broad.mit.edu 37 12 12240321 12240321 + Splice_Site SNP G G A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr12:12240321G>A ENST00000266434.4 + 3 802 c.e3+1 BCL2L14_ENST00000308721.5_Splice_Site|BCL2L14_ENST00000586576.1_Splice_Site|BCL2L14_ENST00000589718.1_Splice_Site|BCL2L14_ENST00000396369.1_Splice_Site|BCL2L14_ENST00000396367.1_Splice_Site NM_030766.1 NP_110393.1 Q9BZR8 B2L14_HUMAN BCL2-like 14 (apoptosis facilitator) apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) TCTAAGAAAGGTAAGCTTTCC 0.532000 5 60 0 0 1 0 0 OAZ3 51686 broad.mit.edu 37 1 151739705 151739705 + Missense_Mutation SNP C C T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr1:151739705C>T ENST00000321531.5 + 3 265 c.98C>T c.(97-99)tCc>tTc p.S33F RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000479764.1_5'UTR|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000453029.2_Missense_Mutation_p.S46F|OAZ3_ENST00000315067.8_Missense_Mutation_p.S33F|OAZ3_ENST00000577465.1_3'UTR Q9UMX2 OAZ3_HUMAN ornithine decarboxylase antizyme 3 30 cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis cytosol|nucleus ornithine decarboxylase inhibitor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 9 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) L-Ornithine(DB00129) GCTCCTGAGTCCCTAGTAGGC 0.512000 7 75 0 0 1 0 0 KLHL7 55975 broad.mit.edu 37 7 23207596 23207596 + Missense_Mutation SNP G G T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr7:23207596G>T ENST00000322231.7 + 10 1743 c.1253G>T c.(1252-1254)gGa>gTa p.G418V KLHL7_ENST00000409689.1_Missense_Mutation_p.G392V|KLHL7_ENST00000539124.1_Missense_Mutation_p.G364V|KLHL7_ENST00000542558.1_Missense_Mutation_p.G215V|KLHL7_ENST00000339077.4_Missense_Mutation_p.G440V|KLHL7_ENST00000545443.1_Missense_Mutation_p.G418V Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 440 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGAAGTTTAGGAAACAATGTT 0.423000 25 51 3.01185e-09 3.6666e-09 1 1 0 INPP4A 3631 broad.mit.edu 37 2 99170841 99170841 + Silent SNP G G A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr2:99170841G>A ENST00000074304.5 + 16 1863 c.1470G>A c.(1468-1470)tcG>tcA p.S490S INPP4A_ENST00000409540.3_Silent_p.S490S|INPP4A_ENST00000409851.3_Silent_p.S485S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.S490S|INPP4A_ENST00000409016.3_Silent_p.S490S|INPP4A_ENST00000523221.1_Silent_p.S490S NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 490 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 CTCCCACTTCGACTGAGGAGG 0.602000 10 15 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 128 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26677925 26677925 + Missense_Mutation SNP A A G TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr11:26677925A>G ENST00000256737.3 + 26 3512 c.2660A>G c.(2659-2661)tAc>tGc p.Y887C ANO3_ENST00000537978.1_Missense_Mutation_p.Y871C|ANO3_ENST00000525139.1_Missense_Mutation_p.Y871C|ANO3_ENST00000531568.1_Missense_Mutation_p.Y741C NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 887 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GATTTCAGGTACAGAGACTAC 0.388000 6 73 0 0 1 0 0 RSRC2 65117 broad.mit.edu 37 12 122990196 122990196 + Nonsense_Mutation SNP G G A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr12:122990196G>A ENST00000331738.7 - 10 1328 c.1183C>T c.(1183-1185)Cag>Tag p.Q395* RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q347* NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 395 breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TCTTCCTGCTGCTTCAGAGTC 0.373000 33 51 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14752291 14752291 + Silent SNP C C T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr19:14752291C>T ENST00000253673.5 - 10 1288 c.1188G>A c.(1186-1188)tcG>tcA p.S396S EMR3_ENST00000344373.4_Silent_p.S344S|EMR3_ENST00000599900.1_Silent_p.S181S|EMR3_ENST00000443157.2_Silent_p.S270S NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 396 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 AGAGGCAGAGCGAGAGCTGCA 0.587000 16 25 0 0 1 0 0 CDT1 81620 broad.mit.edu 37 16 88874571 88874571 + Missense_Mutation SNP G G C TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr16:88874571G>C ENST00000301019.4 + 10 2145 c.1526G>C c.(1525-1527)tGg>tCg p.W509S NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 509 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) CTGCCGGACTGGCTCAGCCTC 0.672000 4 22 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154548321 154548321 + Silent SNP C C A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr1:154548321C>A ENST00000368476.3 + 6 1686 c.1422C>A c.(1420-1422)acC>acA p.T474T NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 474 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) TCTTTGGCACCATCGGCATGT 0.567000 4 95 3.59834e-05 3.73161e-05 1 1 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 5 8 0 0 1 0 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 4 221 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 3 16 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187394 12187394 + Missense_Mutation SNP T T C TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr19:12187394T>C ENST00000439326.3 + 4 1634 c.1459T>C c.(1459-1461)Ttt>Ctt p.F487L ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F487L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GCCTTCATTTTTTCCACTTCC 0.448000 3 56 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79032506 79032506 + Missense_Mutation SNP C C G TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr5:79032506C>G ENST00000446378.2 + 2 7949 c.7918C>G c.(7918-7920)Ctt>Gtt p.L2640V NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2640 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GCCGGTGGCTCTTTCTTGTCG 0.413000 15 26 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44952701 44952701 + Missense_Mutation SNP C C A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr17:44952701C>A ENST00000393461.2 + 3 622 c.569C>A c.(568-570)gCa>gAa p.A190E WNT9B_ENST00000290015.2_Missense_Mutation_p.A190E O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 190 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) CGGGCACGGGCAGACGCCCAC 0.607000 9 11 2.17888e-05 2.44034e-05 1 1 0 SEC22B 9554 broad.mit.edu 37 1 145109547 145109547 + RNA SNP G G T TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr1:145109547G>T ENST00000453618.1 + 0 536 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGGGGTGTGTGATTTGGTT 0.403000 9 206 0.000274275 0.000274275 1 1 0 BCRP7 100133163 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 7 10 0 0 1 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81444141 81444143 + RNA DEL AGG AGG - TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr10:81444141_81444143delAGG ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA CCCCACATGCAGGAGGAGGAGGC 0.665 2 4 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29588743 29588743 + Frame_Shift_Del DEL T T - TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr17:29588743delT ENST00000358273.4 + 35 4975 c.4592delT c.(4591-4593)gtfs p.V1531fs NF1_ENST00000356175.3_Frame_Shift_Del_p.V1510fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1531 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.?(4) 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) CATAAAGCTGTTGGAAGACGA 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) 46 22 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-RW-A689-01A-11D-A35D-08 TCGA-RW-A689-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93918bc2-656a-4ea8-916a-361d7365c2ad cab6cf4c-bb49-4543-8e1e-ea6b42497e1c g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 3 5 --- --- --- ---