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 FRG1B 284802 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 5 83 0 0 0.014758 0 0 FAT1 2195 broad.mit.edu 37 4 187525580 187525580 + Missense_Mutation SNP G G A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr4:187525580G>A ENST00000441802.2 - 18 10708 c.10499C>T c.(10498-10500)tCa>tTa p.S3500L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3500 Cadherin 32. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GATGGCAGATGATGTCAGGAG 0.433000 HNSCC(5;0.00058) 5 55 0 0 0.021553 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179050094 179050094 + Missense_Mutation SNP T T G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr5:179050094T>G ENST00000356731.5 - 1 1576 c.41A>C c.(40-42)aAg>aCg p.K14T HNRNPH1_ENST00000442819.2_Missense_Mutation_p.K14T|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.K14T|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.K14T|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.K14T P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 14 RRM 1. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 GCCCCGGACCTTCACCACGAA 0.582000 13 29 0 0 0.033300 0 0 TDRD1 56165 broad.mit.edu 37 10 115980454 115980454 + Silent SNP C C T TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr10:115980454C>T ENST00000251864.2 + 19 2775 c.2622C>T c.(2620-2622)acC>acT p.T874T TDRD1_ENST00000422662.1_Silent_p.T478T|TDRD1_ENST00000369282.1_Silent_p.T874T|TDRD1_ENST00000369281.2_Silent_p.T760T|TDRD1_ENST00000369280.1_Silent_p.T874T NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 874 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TTGAACTCACCGATCTCTCCA 0.393000 9 25 0 0 0.058154 0 0 PC 5091 broad.mit.edu 37 11 66616543 66616543 + Missense_Mutation SNP C C G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr11:66616543C>G ENST00000393960.1 - 23 3645 c.3364G>C c.(3364-3366)Gac>Cac p.D1122H PC_ENST00000529047.1_Missense_Mutation_p.D242H|PC_ENST00000393955.2_Missense_Mutation_p.D1122H|PC_ENST00000528224.1_5'UTR|PC_ENST00000393958.2_Missense_Mutation_p.D1122H NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 1122 Biotinyl-binding. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) ACTTTGATGTCTATCACCTTC 0.612000 178 75 0 0 0.048971 0 0 CNTN4 152330 broad.mit.edu 37 3 3076327 3076327 + Missense_Mutation SNP C C T TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr3:3076327C>T ENST00000397461.1 + 16 2179 c.1795C>T c.(1795-1797)Ccc>Tcc p.P599S CNTN4_ENST00000418658.1_Missense_Mutation_p.P599S|CNTN4_ENST00000448906.2_Missense_Mutation_p.P271S|CNTN4_ENST00000358480.3_Missense_Mutation_p.P380S|CNTN4_ENST00000397459.2_Missense_Mutation_p.P271S|CNTN4_ENST00000427331.1_Missense_Mutation_p.P599S NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 599 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding p.P271S(1)|p.P599S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCCTCCAGGTCCCCCAGAGGC 0.527000 11 40 0 0 0.093190 0 0 BAGE2 85319 broad.mit.edu 37 21 11058349 11058349 + RNA SNP T T G rs209032 TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr21:11058349T>G ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAGAGAAATCTCTTTATAAAA 0.338000 10 71 0 0 0.069234 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110439320 110439320 + Missense_Mutation SNP A A G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr8:110439320A>G ENST00000378402.5 + 25 3039 c.2935A>G c.(2935-2937)Acc>Gcc p.T979A NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 979 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACGAGAGGGAACCTGTGCTGG 0.522000 HNSCC(38;0.096) 32 45 0 0 0.045705 0 0 BRD7 29117 broad.mit.edu 37 16 50357602 50357602 + Nonsense_Mutation SNP C C A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr16:50357602C>A ENST00000394688.3 - 12 1498 c.1339G>T c.(1339-1341)Gag>Tag p.E447* BRD7_ENST00000394689.2_Nonsense_Mutation_p.E447* Q9NPI1 BRD7_HUMAN bromodomain containing 7 447 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) GCCAAAAACTCATGGATGCTG 0.458000 22 11 1.96292e-10 2.37186e-10 0.055883 1 0 FRAS1 80144 broad.mit.edu 37 4 79366910 79366910 + Missense_Mutation SNP T T C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr4:79366910T>C ENST00000325942.6 + 42 6340 c.5900T>C c.(5899-5901)aTa>aCa p.I1967T FRAS1_ENST00000264895.6_Intron NM_001166133.1 NP_001159605.1 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 0 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TTGACCACAATATTTCACACC 0.378000 45 48 0 0 0.039052 0 0 FBN1 2200 broad.mit.edu 37 15 48704920 48704920 + Missense_Mutation SNP C C T TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr15:48704920C>T ENST00000316623.5 - 65 8527 c.8072G>A c.(8071-8073)gGc>gAc p.G2691D FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2691 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCGGCCCATGCCCATTCCAGA 0.502000 4 175 0 0 0.014758 0 0 PARP4 143 broad.mit.edu 37 13 25077906 25077906 + Missense_Mutation SNP C C A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr13:25077906C>A ENST00000381989.3 - 2 114 c.9G>T c.(7-9)atG>atT p.M3I NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 3 BRCT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CAAAGATTCCCATCACCATCC 0.353000 17 24 5.35267e-07 6.20909e-07 0.043863 1 0 COX7A2 1347 broad.mit.edu 37 6 75950901 75950901 + Silent SNP T T C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr6:75950901T>C ENST00000370081.2 - 3 505 c.195A>G c.(193-195)aaA>aaG p.K65K COX7A2_ENST00000230459.4_Silent_p.K33K|COX7A2_ENST00000509698.1_Silent_p.K33K|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000370089.2_Silent_p.K65K|COX7A2_ENST00000472311.2_Silent_p.K33K P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) 33 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 CCTGGAACAGTTTTTGCTTCT 0.343000 4 88 0 0 0.021553 0 0 DRD5 1816 broad.mit.edu 37 4 9784929 9784929 + Missense_Mutation SNP G G C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr4:9784929G>C ENST00000304374.2 + 1 1672 c.1276G>C c.(1276-1278)Gac>Cac p.D426H NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 426 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CCGGGAGGTGGACAACGACGA 0.567000 10 64 0 0 0.058154 0 0 CEACAM19 56971 broad.mit.edu 37 19 45176143 45176143 + Missense_Mutation SNP C C T TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr19:45176143C>T ENST00000358777.4 + 2 811 c.331C>T c.(331-333)Cgc>Tgc p.R111C CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Missense_Mutation_p.R111C NM_001127893.1|NM_020219.3 NP_001121365.1|NP_064604.2 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion molecule 19 111 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) GCTGCTGCGCCGCGCCCAGCC 0.557000 156 355 0 0 0.048971 0 0 KCNB2 9312 broad.mit.edu 37 8 73849115 73849115 + Missense_Mutation SNP G G A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr8:73849115G>A ENST00000523207.1 + 3 2113 c.1525G>A c.(1525-1527)Gag>Aag p.E509K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 509 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CAAGTCTTTCGAGAATAAGTA 0.542000 54 70 0 0 0.048971 0 0 ITGAV 3685 broad.mit.edu 37 2 187506113 187506113 + Splice_Site SNP T T G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr2:187506113T>G ENST00000261023.3 + 12 1231 c.956_splice c.e12-1 p.D319_splice ITGAV_ENST00000374907.3_Splice_Site_p.D283_splice|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Splice_Site_p.D273_splice NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 319 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GTTCTTCTAGTTATGCAGATG 0.428000 21 67 0 0 0.049695 0 0 STARD8 9754 broad.mit.edu 37 X 67940175 67940175 + Silent SNP A A C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chrX:67940175A>C ENST00000252336.6 + 7 2091 c.1719A>C c.(1717-1719)ccA>ccC p.P573P STARD8_ENST00000374597.3_Silent_p.P573P|STARD8_ENST00000374599.3_Silent_p.P653P NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 573 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.P573P(4)|p.P653P(2) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 TTGGGGTGCCACCCCTCATCC 0.577000 5 17 0 0 0.014758 0 0 FRMD4B 23150 broad.mit.edu 37 3 69221132 69221132 + Splice_Site SNP T T C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr3:69221132T>C ENST00000542259.1 - 24 3274 c.2822_splice c.e24-1 p.R941_splice FRMD4B_ENST00000398540.3_Splice_Site_p.R995_splice|FRMD4B_ENST00000478263.1_Splice_Site_p.R647_splice Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 995 cytoplasm|cytoskeleton binding NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) CTGTGTATTGTCTATTAAAGA 0.393000 70 64 0 0 0.048971 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 7 356 0 0 0.029380 0 0 IL7R 3575 broad.mit.edu 37 5 35875627 35875627 + Missense_Mutation SNP G G A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr5:35875627G>A ENST00000303115.3 + 7 943 c.814G>A c.(814-816)Gta>Ata p.V272I IL7R_ENST00000343305.4_Silent_p.S240S|IL7R_ENST00000506850.1_Silent_p.S240S NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 272 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TAAGCCTATCGTATGGCCCAG 0.428000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 8 25 0 0 0.058154 0 0 NUP88 4927 broad.mit.edu 37 17 5290080 5290080 + Missense_Mutation SNP T T A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr17:5290080T>A ENST00000573584.1 - 16 2619 c.2110A>T c.(2110-2112)Att>Ttt p.I704F NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 704 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 CTGAGAATAATGGTGGGTTTT 0.363000 39 60 0 0 0.111260 0 0 PTPN22 26191 broad.mit.edu 37 1 114380371 114380371 + Missense_Mutation SNP G G A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr1:114380371G>A ENST00000359785.5 - 13 1786 c.1651C>T c.(1651-1653)Ctt>Ttt p.L551F PTPN22_ENST00000538253.1_Missense_Mutation_p.L307F|PTPN22_ENST00000420377.2_Missense_Mutation_p.L551F|PTPN22_ENST00000525799.1_Missense_Mutation_p.L424F|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.L496F NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 551 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGTAAATCAAGAGACATCTTA 0.383000 15 28 0 0 0.024245 0 0 TEX15 56154 broad.mit.edu 37 8 30703556 30703556 + Missense_Mutation SNP A A G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr8:30703556A>G ENST00000256246.2 - 1 3052 c.2978T>C c.(2977-2979)cTt>cCt p.L993P NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 993 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTTCTGGAAAGACATTTGCT 0.338000 37 92 0 0 0.069456 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b 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 30 43 0 0 0.041601 0 0 PEX19 5824 broad.mit.edu 37 1 160253385 160253385 + Missense_Mutation SNP G G A rs144256391 byFrequency TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr1:160253385G>A ENST00000368072.5 - 2 136 c.115C>T c.(115-117)Cct>Tct p.P39S DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGGTAGAAGGGGGTGCTGGG 0.547000 30 37 0 0 0.037714 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 6 177 0 0 0.021553 0 0 ZNF277 11179 broad.mit.edu 37 7 111958309 111958309 + Missense_Mutation SNP G G A rs143437932 byFrequency TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr7:111958309G>A ENST00000361822.3 + 5 667 c.538G>A c.(538-540)Gaa>Aaa p.E180K ZNF277_ENST00000450657.1_Missense_Mutation_p.E180K NM_021994.2 NP_068834.2 Q9NRM2 ZN277_HUMAN zinc finger protein 277 180 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 GTTTTGCAATGAAGAATTCCT 0.333000 18 26 0 0 0.038395 0 0 MIB1 57534 broad.mit.edu 37 18 19444569 19444569 + Missense_Mutation SNP G G C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr18:19444569G>C ENST00000261537.6 + 21 3227 c.2963G>C c.(2962-2964)cGc>cCc p.R988P MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 988 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) TGTGGAGACCGCATGAGTGAA 0.403000 11 91 0 0 0.069234 0 0 PTRF 284119 broad.mit.edu 37 17 40574746 40574746 + Missense_Mutation SNP C C T TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr17:40574746C>T ENST00000357037.5 - 1 789 c.370G>A c.(370-372)Gtg>Atg p.V124M NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 124 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CTGCCGCGCACGGTCTTCACG 0.632000 9 10 0 0 0.058154 0 0 KIAA1033 23325 broad.mit.edu 37 12 105519825 105519825 + Missense_Mutation SNP C C A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr12:105519825C>A ENST00000332180.5 + 11 917 c.830C>A c.(829-831)tCt>tAt p.S277Y NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 277 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 GGAGGAGTATCTGTGTCAAAA 0.328000 7 17 3.09899e-07 3.6434e-07 0.047766 1 0 ASPM 259266 broad.mit.edu 37 1 197115395 197115395 + Missense_Mutation SNP C C A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr1:197115395C>A ENST00000367409.4 - 1 429 c.173G>T c.(172-174)gGa>gTa p.G58V ASPM_ENST00000294732.7_Missense_Mutation_p.G58V NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 58 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CCGTGAGGCTCCCAGGAGAAC 0.652000 55 84 6.75472e-32 8.39515e-32 0.048971 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130218329 130218329 + Silent SNP G G A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chrX:130218329G>A ENST00000276211.5 + 5 1041 c.696G>A c.(694-696)gcG>gcA p.A232A ARHGAP36_ENST00000370921.1_Silent_p.A96A|ARHGAP36_ENST00000370922.1_Silent_p.A220A NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 232 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 ATCCGATTGCGAAACAAATCC 0.468000 24 7 0 0 0.076483 0 0 SLC44A1 23446 broad.mit.edu 37 9 108120631 108120631 + Missense_Mutation SNP C C G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr9:108120631C>G ENST00000374720.3 + 7 924 c.677C>G c.(676-678)tCc>tGc p.S226C SLC44A1_ENST00000374724.1_Missense_Mutation_p.S226C|SLC44A1_ENST00000343170.7_Missense_Mutation_p.S18C|SLC44A1_ENST00000374723.1_Missense_Mutation_p.S226C NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 226 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) GCAGTTCTATCCATGATTTTG 0.338000 35 58 0 0 0.069456 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 6 337 0 0 0.021553 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 65 0 0 0.021553 0 0 ASPM 259266 broad.mit.edu 37 1 197115396 197115396 + Nonsense_Mutation SNP C C A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr1:197115396C>A ENST00000367409.4 - 1 428 c.172G>T c.(172-174)Gga>Tga p.G58* ASPM_ENST00000294732.7_Nonsense_Mutation_p.G58* NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 58 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CGTGAGGCTCCCAGGAGAACG 0.652000 53 84 5.82218e-30 7.13422e-30 0.048971 1 0 FPR3 2359 broad.mit.edu 37 19 52327145 52327145 + Silent SNP C C A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr19:52327145C>A ENST00000339223.4 + 2 323 c.144C>A c.(142-144)atC>atA p.I48I FPR3_ENST00000595991.1_Silent_p.I48I NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 48 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 GGCTTGTGATCTGGGTGGCTG 0.552000 27 53 1.7881e-09 2.13103e-09 0.037714 1 0 FRG1B 284802 broad.mit.edu 37 20 29628225 29628225 + Splice_Site SNP A A G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr20:29628225A>G ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGTTTCACTTAGGGGAAAATG 0.358000 5 77 0 0 0.058154 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 7 98 0 0 0.029380 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 5 40 0 0 0.021553 0 0 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 182 0 0 0.009096 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44336343 44336343 + Missense_Mutation SNP C C G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr18:44336343C>G ENST00000315087.7 - 1 789 c.129G>C c.(127-129)aaG>aaC p.K43N ST8SIA5_ENST00000538168.1_Missense_Mutation_p.K43N|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.K43N NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 43 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 TTTCTTACCTCTTAATGTAGT 0.617000 12 20 0 0 0.105934 0 0 FREM1 158326 broad.mit.edu 37 9 14776250 14776250 + Translation_Start_Site SNP A A G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr9:14776250A>G ENST00000380894.1 - 2 90 c.2T>C c.(1-3)aTg>aCg p.M1T FREM1_ENST00000422223.2_Intron|FREM1_ENST00000380881.4_Intron|FREM1_ENST00000380880.3_Intron NM_001177704.1 NP_001171175.1 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 0 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTGTGTCACCATCTACTGGAA 0.438000 7 12 0 0 0.029380 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 32 0 0 0.004672 0 0 C5orf34 375444 broad.mit.edu 37 5 43503827 43503827 + Missense_Mutation SNP G G T TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr5:43503827G>T ENST00000306862.2 - 5 1343 c.968C>A c.(967-969)tCt>tAt p.S323Y RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 323 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) ATATTCATCAGATTGTCTCTG 0.353000 53 49 2.73381e-35 3.44697e-35 0.048971 1 0 LINC00969 440993 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 3 46 0 0 0.004672 0 0 RPS16 6217 broad.mit.edu 37 19 39924009 39924009 + Missense_Mutation SNP A A G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr19:39924009A>G ENST00000339471.4 - 4 480 c.440T>C c.(439-441)aTg>aCg p.M147T RPS16_ENST00000251453.3_Silent_p.Y115Y|RPS16_ENST00000599539.1_3'UTR|RPS16_ENST00000601655.1_Silent_p.Y98Y P62249 RS16_HUMAN ribosomal protein S16 0 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2) 7 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGGTCCGGTCATACTGGATGA 0.537000 17 60 0 0 0.038395 0 0 ASXL3 80816 broad.mit.edu 37 18 31324386 31324386 + Missense_Mutation SNP C C G TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr18:31324386C>G ENST00000269197.5 + 12 4574 c.4574C>G c.(4573-4575)cCt>cGt p.P1525R NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATTAGCAGGCCTGAGCCAGTT 0.542000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 42 0 0 0.029380 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 15 0 0 0.009096 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887527 12887527 + Silent SNP A A G rs2486716 TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr1:12887527A>G ENST00000535591.1 - 3 525 c.330T>C c.(328-330)ttT>ttC p.F110F NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 110 p.F110F(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 AAAGTTCTACAAACACAGTCA 0.498000 6 366 0 0 0.021553 0 0 PLCB1 23236 broad.mit.edu 37 20 8665706 8665706 + Silent SNP G G A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr20:8665706G>A ENST00000378641.3 + 10 1465 c.990G>A c.(988-990)tcG>tcA p.S330S PLCB1_ENST00000378637.2_Silent_p.S330S|PLCB1_ENST00000338037.6_Silent_p.S330S NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 330 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TTAATTCCTCGCACAACACCT 0.418000 50 65 0 0 0.048971 0 0 ZNF761 388561 broad.mit.edu 37 19 53945837 53945837 + RNA SNP T T C rs17855120 by1000genomes TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr19:53945837T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GGACCAGACTTTGCTTGACCT 0.512000 3 48 0 0 0.047766 0 0 ITGAD 3681 broad.mit.edu 37 16 31425790 31425790 + Missense_Mutation SNP T T C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr16:31425790T>C ENST00000389202.2 + 17 2064 c.2015T>C c.(2014-2016)gTc>gCc p.V672A NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 672 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CAAAGCTCTGTCAGGTTTGAT 0.448000 97 93 0 0 0.048971 0 0 HERC2 8924 broad.mit.edu 37 15 28482110 28482110 + Splice_Site SNP G G A TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr15:28482110G>A ENST00000261609.7 - 26 4110 c.4003_splice c.e26+1 p.A1334_splice NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1334 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTTTCTTACTGGCACATTCAA 0.463000 15 19 0 0 0.038395 0 0 POGZ 23126 broad.mit.edu 37 1 151381178 151381179 + Frame_Shift_Ins INS - - TGGT TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr1:151381178_151381179insTGGT ENST00000271715.2 - 13 2366_2367 c.2052_2053insACCA c.(2050-2055)ccgcacfs p.H685fs POGZ_ENST00000368863.2_Frame_Shift_Ins_p.H590fs|POGZ_ENST00000540984.1_Frame_Shift_Ins_p.H47fs|POGZ_ENST00000361398.3_Frame_Shift_Ins_p.H632fs|POGZ_ENST00000531094.1_Frame_Shift_Ins_p.H623fs|POGZ_ENST00000491586.1_Frame_Shift_Ins_p.H641fs|POGZ_ENST00000392723.1_Frame_Shift_Ins_p.H632fs|POGZ_ENST00000409503.1_Frame_Shift_Ins_p.H676fs NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 685 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACCTTGGTGCCTGGTTTCAAGC 0.450 139 246 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 7 212 --- --- --- --- LILRP2 79166 broad.mit.edu 37 19 55221804 55221805 + RNA INS - - AC rs45583536 TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr19:55221804_55221805insAC ENST00000413439.1 + 0 1415 CAGAGACAGAGACTGAGGGTCC 0.614 5 4 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f968b693-f462-4779-8784-75e12a72953d 1606c5e3-e3d1-4618-8690-7f6e1e36a54b g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 3 4 --- --- --- ---