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 ADAM21P1 145241 broad.mit.edu 37 14 70713782 70713782 + RNA SNP A A G rs114580810 by1000genomes TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr14:70713782A>G ENST00000530196.1 - 0 736 NR_003951.1 GTCACCAGCAAATTTTGGTTC 0.443000 3 73 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72285858 72285858 + Nonsense_Mutation SNP C C A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr17:72285858C>A ENST00000579490.1 + 4 899 c.764C>A c.(763-765)tCa>tAa p.S255* DNAI2_ENST00000582036.1_Nonsense_Mutation_p.S198*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.S198*|DNAI2_ENST00000311014.6_Nonsense_Mutation_p.S198*|DNAI2_ENST00000307504.5_Nonsense_Mutation_p.S55* Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 198 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGCAGCGATTCATACATCTGG 0.637000 Kartagener syndrome 3 45 1 1 1 1 0 RNF17 56163 broad.mit.edu 37 13 25399864 25399864 + Silent SNP T T C TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr13:25399864T>C ENST00000255324.5 + 16 2251 c.2199T>C c.(2197-2199)tgT>tgC p.C733C RNF17_ENST00000381921.1_Silent_p.C733C NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 733 Tudor 1. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ATCAAGCCTGTGTAGCTAAAT 0.363000 14 73 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530109 140530109 + Missense_Mutation SNP C C T TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr5:140530109C>T ENST00000231136.1 + 1 271 c.271C>T c.(271-273)Cgg>Tgg p.R91W PCDHB6_ENST00000543635.1_5'UTR NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 91 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAACTGGACCGGGAGGAGCT 0.507000 13 57 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64199342 64199342 + Missense_Mutation SNP G G C TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr2:64199342G>C ENST00000354504.3 - 2 653 c.64C>G c.(64-66)Cct>Gct p.P22A VPS54_ENST00000272322.4_Missense_Mutation_p.P139A|VPS54_ENST00000409558.3_Missense_Mutation_p.P127A Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 139 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TCTTTAGGAGGACAAATATTC 0.289000 14 58 0 0 1 0 0 DKK3 27122 broad.mit.edu 37 11 12020296 12020296 + Missense_Mutation SNP A A T TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr11:12020296A>T ENST00000396505.2 - 4 620 c.382T>A c.(382-384)Ttt>Att p.F128I DKK3_ENST00000326932.4_Missense_Mutation_p.F128I|DKK3_ENST00000450094.2_Intron|DKK3_ENST00000525493.1_Missense_Mutation_p.F128I|DKK3_ENST00000527132.1_Intron NM_015881.5 NP_056965.3 Q9UBP4 DKK3_HUMAN dickkopf WNT signaling pathway inhibitor 3 128 adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) GTCTCTGAAAAGACCATTTGT 0.418000 30 37 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95528532 95528532 + Missense_Mutation SNP T T C TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr12:95528532T>C ENST00000343958.4 - 8 3288 c.3065A>G c.(3064-3066)tAc>tGc p.Y1022C FGD6_ENST00000549499.1_Missense_Mutation_p.Y1022C|FGD6_ENST00000546711.1_Missense_Mutation_p.Y1022C NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1022 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 breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CAACAGCCTGTACTGGGGGAT 0.517000 12 15 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52732912 52732912 + Nonstop_Mutation SNP T T G TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr8:52732912T>G ENST00000360540.5 - 7 1479 c.1073A>C c.(1072-1074)tAa>tCa p.*358S PCMTD1_ENST00000544451.1_Nonstop_Mutation_p.*282S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonstop_Mutation_p.*358S NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 0 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TGATCTAAGTTATTTGTCTCT 0.338000 4 55 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502263 140502263 + Missense_Mutation SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr5:140502263G>A ENST00000194152.1 + 1 683 c.683G>A c.(682-684)cGa>cAa p.R228Q NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 228 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCATGGTTCGAATCCTGATC 0.537000 34 36 0 0 1 0 0 C8orf37 157657 broad.mit.edu 37 8 96264494 96264494 + Missense_Mutation SNP C C T rs139137766 byFrequency TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr8:96264494C>T ENST00000286688.5 - 5 403 c.392G>A c.(391-393)cGt>cAt p.R131H NM_177965.3 NP_808880.1 Q96NL8 CH037_HUMAN chromosome 8 open reading frame 37 131 kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) GGCTATACAACGCAGATGGTC 0.328000 5 79 0 0 1 0 0 FBXO21 23014 broad.mit.edu 37 12 117595766 117595766 + Missense_Mutation SNP C C G TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr12:117595766C>G ENST00000427718.2 - 10 1503 c.1429G>C c.(1429-1431)Gag>Cag p.E477Q FBXO21_ENST00000330622.5_Missense_Mutation_p.E484Q NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 484 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) CCCACCTCCTCCTTTTTGCGC 0.582000 96 95 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143961139 143961139 + Missense_Mutation SNP C C A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr8:143961139C>A ENST00000292427.4 - 1 123 c.91G>T c.(91-93)Gtc>Ttc p.V31F CYP11B1_ENST00000377675.3_Missense_Mutation_p.V31F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.V31F NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 31 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GTCCTGGGGACCCGGGCGGCT 0.642000 Familial Hyperaldosteronism type I 29 20 1.75199e-13 1.83162e-13 1 1 0 CCT6B 10693 broad.mit.edu 37 17 33269552 33269552 + Missense_Mutation SNP T T C TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr17:33269552T>C ENST00000314144.5 - 7 951 c.836A>G c.(835-837)gAc>gGc p.D279G CCT6B_ENST00000436961.3_Missense_Mutation_p.D234G|CCT6B_ENST00000421975.3_Missense_Mutation_p.D242G NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 279 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) ACAGACTTTGTCCTTCAGGTC 0.294000 17 2 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165547533 165547533 + Missense_Mutation SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr3:165547533G>A ENST00000264381.3 - 2 1455 c.1289C>T c.(1288-1290)gCc>gTc p.A430V BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 430 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GAACTCCAAGGCAGGGCATAT 0.438000 6 26 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53279664 53279664 + Silent SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chrX:53279664G>A ENST00000396435.3 - 5 2294 c.2094C>T c.(2092-2094)agC>agT p.S698S IQSEC2_ENST00000375368.5_Silent_p.S688S|IQSEC2_ENST00000375365.2_Silent_p.S493S NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 688 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 AGCTCTCAAGGCTCTCGTTAT 0.617000 4 40 0 0 1 0 0 MRPL46 26589 broad.mit.edu 37 15 89010473 89010473 + Missense_Mutation SNP G G A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr15:89010473G>A ENST00000312475.4 - 1 177 c.136C>T c.(136-138)Cgc>Tgc p.R46C NM_022163.3 NP_071446.2 Q9H2W6 RM46_HUMAN mitochondrial ribosomal protein L46 46 mitochondrion|ribosome hydrolase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) CCCAACAAGCGCCATGGGGAT 0.652000 13 13 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43441282 43441282 + RNA SNP T T A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr19:43441282T>A ENST00000471557.1 - 0 48 PSG7_ENST00000446844.3_RNA|PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GGATCCAGAATCTTCCTGAGC 0.597000 3 43 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr19:12187443C>G ENST00000439326.3 + 4 1683 c.1508C>G c.(1507-1509)cCt>cGt p.P503R ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P503R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCCTATGAGTGTA 0.413000 4 55 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22207315 22207315 + Frame_Shift_Del DEL C C - TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr1:22207315delC ENST00000374695.3 - 15 1911 c.1832delG c.(1831-1833)gcfs p.G612fs NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 612 Laminin IV type A 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CAGGGAGCCGCCATAGGAGTC 0.637 2 4 --- --- --- --- ANKRD20A12P 100874392 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 7 170 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 4 4 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29653263 29653263 + Frame_Shift_Del DEL C C - TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr17:29653263delC ENST00000358273.4 + 37 5644 c.5261delC c.(5260-5262)ttfs p.S1754fs NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.S1733fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1754 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.?(3) 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) ACCAAAGTTTCTATTAAAGTA 0.423 """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 2 --- --- --- --- IGLV3-12 28802 broad.mit.edu 37 22 23114748 23114749 + RNA INS - - T rs58165270 TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chr22:23114748_23114749insT ENST00000390313.2 + 0 55 CCATCCTCTCCTTTTTTTTTTT 0.495 4 3 --- --- --- --- RP11-308D16.4 0 broad.mit.edu 37 X 136030245 136030245 + RNA DEL T T - TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5873ba50-f22c-4a5e-81c5-e2997bee3a8f 08885038-9c83-4bfc-9c3b-c3eb2b8c67e2 g.chrX:136030245delT ENST00000424306.1 + 0 2052 GAGAACCTGCTTTTTTTTTTT 0.438 4 5 --- --- --- ---