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 VPS37B 79720 broad.mit.edu 37 12 123351949 123351949 + Missense_Mutation SNP T T G TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr12:123351949T>G ENST00000267202.2 - 4 953 c.572A>C c.(571-573)tAc>tCc p.Y191S NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 191 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane p.Y191S(2) breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) TGGGGCAGGGTAGGGAAGGGG 0.706000 8 24 0 0 0.020292 0 0 VEGFB 7423 broad.mit.edu 37 11 64005048 64005048 + Missense_Mutation SNP A A C TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr11:64005048A>C ENST00000426086.2 + 6 480 c.466A>C c.(466-468)Acc>Ccc p.T156P VEGFB_ENST00000309422.2_Silent_p.G189G P49765 VEGFB_HUMAN vascular endothelial growth factor B 149 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding endometrium(2)|large_intestine(2)|prostate(1)|stomach(1) 6 TGACCCCCGGACCTGCCGCTG 0.711000 5 2 0 0 0.004482 0 0 GIT1 28964 broad.mit.edu 37 17 27910005 27910005 + Silent SNP G G A TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr17:27910005G>A ENST00000225394.3 - 3 485 c.237C>T c.(235-237)tcC>tcT p.S79S GIT1_ENST00000581348.1_Silent_p.S79S|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.S79S|GIT1_ENST00000579937.1_Silent_p.S79S NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 79 Arf-GAP. regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GGTCCAGCAGGGAGTGCTCCC 0.627000 17 44 0 0 0.006122 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 4 82 0.00307968 0.00374917 0.003080 1 0 TMEM175 84286 broad.mit.edu 37 4 952220 952220 + Missense_Mutation SNP A A C TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr4:952220A>C ENST00000264771.4 + 11 1636 c.1451A>C c.(1450-1452)cAc>cCc p.H484P TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 484 integral to membrane p.H484P(1) NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGGCCCGAACACCCCCCGCCA 0.736000 7 9 0 0 0.001984 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71282217 71282217 + Silent SNP G G A TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr17:71282217G>A ENST00000335793.3 - 2 817 c.423C>T c.(421-423)tcC>tcT p.S141S CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.S71S Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 141 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) TCACGGGGCTGGATGACAGGC 0.652000 3 47 0 0 0.004672 0 0 RHPN2 85415 broad.mit.edu 37 19 33493188 33493188 + Missense_Mutation SNP T T A rs141887475 by1000genomes TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr19:33493188T>A ENST00000254260.3 - 9 1105 c.1070A>T c.(1069-1071)cAc>cTc p.H357L RHPN2_ENST00000400226.4_Missense_Mutation_p.H206L NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 357 BRO1. signal transduction perinuclear region of cytoplasm protein binding p.H357L(2) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) AGTGAAGTAGTGGGCCAGGGC 0.647000 4 32 0 0 0.021553 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 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 6 71 0 0 0.004482 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 33 0 0 0.021553 0 0 C9orf106 414318 broad.mit.edu 37 9 132084622 132084622 + RNA SNP G G T TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr9:132084622G>T ENST00000316786.1 + 0 583 Q8NAJ2 CI106_HUMAN chromosome 9 open reading frame 106 large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(14;0.00556)|Medulloblastoma(224;0.235) ATGCCCGGGGGACACTGCCCT 0.597000 9 22 7.48243e-07 9.52309e-07 0.006214 1 0 EPPK1 83481 broad.mit.edu 37 8 144940596 144940596 + Missense_Mutation SNP C C T TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr8:144940596C>T ENST00000525985.1 - 2 6897 c.6826G>A c.(6826-6828)Gtg>Atg p.V2276M P58107 EPIPL_HUMAN epiplakin 1 2276 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGTTGCGCACGGGGTCGATG 0.726000 5 41 0 0 0.014758 0 0 IPO11 51194 broad.mit.edu 37 5 61832571 61832571 + Missense_Mutation SNP A A G TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr5:61832571A>G ENST00000325324.6 + 23 2301 c.2132A>G c.(2131-2133)aAt>aGt p.N711S IPO11_ENST00000409296.3_Missense_Mutation_p.N751S|KIF2A_ENST00000509663.2_3'UTR NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 711 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) AAGATCATCAATGGTTATATC 0.239000 10 25 0 0 0.013537 0 0 PPRC1 23082 broad.mit.edu 37 10 103899202 103899202 + Missense_Mutation SNP C C T TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr10:103899202C>T ENST00000278070.2 + 5 976 c.937C>T c.(937-939)Cac>Tac p.H313Y PPRC1_ENST00000413464.2_Missense_Mutation_p.H313Y NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCGGGCCATGCACCCATACTG 0.582000 16 39 0 0 0.024245 0 0 FAM35A 54537 broad.mit.edu 37 10 88939978 88939978 + Silent SNP T T C TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr10:88939978T>C ENST00000298786.4 + 8 2431 c.2317T>C c.(2317-2319)Ttg>Ctg p.L773L FAM35A_ENST00000298784.1_Silent_p.L704L Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 704 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 AAAATGTGGATTGGAACTAGA 0.363000 15 37 0 0 0.006122 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 27 47 0 0 0.007291 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 3 14 0 0 0.004672 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 5 9 --- --- --- --- ANKRD20A1 84210 broad.mit.edu 37 9 67934791 67934794 + Frame_Shift_Del DEL AAAG AAAG - TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr9:67934791_67934794delAAAG ENST00000377477.2 + 4 673_676 c.561_564delAAAG c.(559-564)aafs p.KK187fs NM_032250.3 NP_115626.2 ankyrin repeat domain 20 family, member A1 kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 11 TTTTATTGAAAAAGAAAGCAAGTT 0.309 2 4 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 7 0 --- --- --- --- ISYNA1 51477 broad.mit.edu 37 19 18547917 18547918 + Splice_Site INS - - G TCGA-ET-A3BU-01A-11D-A19J-08 TCGA-ET-A3BU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6cd1-82ec-438e-b236-2ac5e9355d65 305bd469-d052-44cf-9a97-986cfbc9d686 g.chr19:18547917_18547918insG ENST00000338128.7 - 4 500 c.e4-2 ISYNA1_ENST00000545187.1_Intron|ISYNA1_ENST00000457269.3_Splice_Site|ISYNA1_ENST00000317018.6_Splice_Site|ISYNA1_ENST00000578963.1_5'UTR NM_016368.4 NP_057452.1 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 12 GTTGGCCTCCTGGGGGTCAGCA 0.698 2 4 --- --- --- ---