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 EPHB2 2048 broad.mit.edu 37 1 23111211 23111211 + Silent SNP C C T TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr1:23111211C>T ENST00000400191.3 + 3 471 c.453C>T c.(451-453)gaC>gaT p.D151D EPHB2_ENST00000544305.1_Silent_p.D151D|EPHB2_ENST00000374632.3_Silent_p.D151D|EPHB2_ENST00000374627.1_Silent_p.D145D|EPHB2_ENST00000374630.3_Silent_p.D151D NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 151 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCCAGGTGGACCTGGGTGGCC 0.597 12 11 --- --- --- --- RPRD2 23248 broad.mit.edu 37 1 150444279 150444279 + Missense_Mutation SNP C C G TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr1:150444279C>G ENST00000401000.4 + 10 2842 c.2777C>G c.(2776-2778)aCt>aGt p.T926S RPRD2_ENST00000369068.4_Missense_Mutation_p.T952S|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 952 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CAATCTACCACTGGGCATCTC 0.527 128 134 --- --- --- --- GPR125 166647 broad.mit.edu 37 4 22389479 22389479 + Missense_Mutation SNP A A G TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr4:22389479A>G ENST00000334304.5 - 19 4084 c.3815T>C c.(3814-3816)gTt>gCt p.V1272A GPR125_ENST00000282943.5_5'UTR NM_145290.3 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1272 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TTCAAGTTCAACCACAGCTGG 0.438 14 21 --- --- --- --- PDE10A 10846 broad.mit.edu 37 6 165829699 165829699 + Missense_Mutation SNP A A T TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr6:165829699A>T ENST00000366882.1 - 13 1193 c.1039T>A c.(1039-1041)Tat>Aat p.Y347N PDE10A_ENST00000539869.2_Missense_Mutation_p.Y357N|PDE10A_ENST00000354448.4_Missense_Mutation_p.Y347N Q9Y233 PDE10_HUMAN phosphodiesterase 10A 347 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GGGTCTGCATAGGCATCTGGA 0.448 48 66 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48318265 48318265 + Silent SNP C C T TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr7:48318265C>T ENST00000435803.1 + 18 7498 c.7474C>T c.(7474-7476)Ctg>Ttg p.L2492L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2492 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AAGTCACGTCCTGAAACCCCT 0.398 6 205 --- --- --- --- ZNF398 57541 broad.mit.edu 37 7 148851149 148851149 + Missense_Mutation SNP T T C TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr7:148851149T>C ENST00000475153.1 + 2 404 c.137T>C c.(136-138)gTg>gCg p.V46A ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.V51A|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR Q8TD17 ZN398_HUMAN zinc finger protein 398 46 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) CTGTGGACAGTGGTGGCCGCC 0.592 37 23 --- --- --- --- PNOC 5368 broad.mit.edu 37 8 28186778 28186778 + Missense_Mutation SNP C C A TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr8:28186778C>A ENST00000301908.3 + 2 312 c.104C>A c.(103-105)gCc>gAc p.A35D RP11-380I10.4_ENST00000521731.1_RNA NM_006228.3 NP_006219.1 Q13519 PNOC_HUMAN prepronociceptin 35 neuropeptide signaling pathway|sensory perception|synaptic transmission extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Ovarian(32;0.000953) KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245) CTCCACCCAGCCCTGGACAGC 0.577 3 23 --- --- --- --- PHF2 5253 broad.mit.edu 37 9 96420442 96420442 + Missense_Mutation SNP G G C TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr9:96420442G>C ENST00000359246.4 + 10 1530 c.1163G>C c.(1162-1164)gGg>gCg p.G388A PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 388 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CACAAATCTGGGAAGCAGCTG 0.567 19 19 --- --- --- --- NUTM2A 728118 broad.mit.edu 37 10 88988143 88988143 + Missense_Mutation SNP G G A TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr10:88988143G>A ENST00000381689.4 + 2 837 c.506G>A c.(505-507)gGg>gAg p.G169E NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381707.2_Missense_Mutation_p.G169E NUT family member 2A GTGACTGCAGGGGCTCCTCCA 0.687 12 38 --- --- --- --- EXT2 2132 broad.mit.edu 37 11 44146380 44146380 + Missense_Mutation SNP A A C TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr11:44146380A>C ENST00000395673.3 + 5 940 c.884A>C c.(883-885)cAt>cCt p.H295P EXT2_ENST00000343631.3_Missense_Mutation_p.H262P|EXT2_ENST00000533608.1_Missense_Mutation_p.H262P|EXT2_ENST00000358681.4_Missense_Mutation_p.H262P NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 262 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 GTGGGTCTCCATCCTGAGTAC 0.473 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 14 2 --- --- --- --- C12orf10 60314 broad.mit.edu 37 12 53693739 53693739 + Splice_Site SNP T T C TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr12:53693739T>C ENST00000267103.5 + 1 268 c.e1+2 C12orf10_ENST00000548632.1_Splice_Site|RP11-680A11.5_ENST00000550263.1_RNA NM_021640.3 NP_067653 Q86UA3 Q86UA3_HUMAN chromosome 12 open reading frame 10 cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 20 GAGTACCGGGTACGGTCCGCG 0.647 OREG0021864 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 15 --- --- --- --- TCTN2 79867 broad.mit.edu 37 12 124163788 124163788 + Silent SNP T T G TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr12:124163788T>G ENST00000303372.5 + 5 644 c.516T>G c.(514-516)ccT>ccG p.P172P TCTN2_ENST00000426174.2_Silent_p.P171P NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 172 Cys-rich. cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) GCCCTTGTCCTTGTAATTTAA 0.448 39 4 --- --- --- --- ISM2 145501 broad.mit.edu 37 14 77950790 77950790 + Missense_Mutation SNP G G A TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr14:77950790G>A ENST00000393684.3 - 4 630 c.239C>T c.(238-240)gCa>gTa p.A80V ISM2_ENST00000493585.1_Missense_Mutation_p.A168V|ISM2_ENST00000342219.4_Missense_Mutation_p.A168V|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.A87V Q6H9L7 ISM2_HUMAN isthmin 2 168 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 GGTCAGGGCTGCTGGCTCAGT 0.612 28 39 --- --- --- --- BLM 641 broad.mit.edu 37 15 91346839 91346839 + Silent SNP G G A TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr15:91346839G>A ENST00000355112.3 + 18 3565 c.3447G>A c.(3445-3447)ctG>ctA p.L1149L BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1149 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TTAAAAAGCTGATACTTGACA 0.378 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 21 71 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr17:47696426A>C ENST00000393331.3 - 7 867 c.397T>G c.(397-399)Ttc>Gtc p.F133V SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448 Prostate(2;0.17) 39 62 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13323529 13323529 + Missense_Mutation SNP C C T TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr19:13323529C>T ENST00000360228.5 - 41 5965 c.5966G>A c.(5965-5967)cGc>cAc p.R1989H CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1990H NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1990 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGGCTCCATGCGCTGGAACAT 0.667 8 4 --- --- --- --- ZNF230 7773 broad.mit.edu 37 19 44515050 44515050 + Missense_Mutation SNP A A G TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr19:44515050A>G ENST00000429154.2 + 5 1087 c.859A>G c.(859-861)Aag>Gag p.K287E NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) AATATGTGGTAAGAGCTTCTG 0.433 54 63 --- --- --- --- CDH22 64405 broad.mit.edu 37 20 44869670 44869670 + Missense_Mutation SNP A A C TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr20:44869670A>C ENST00000372262.3 - 2 882 c.482T>G c.(481-483)aTc>aGc p.I161S CDH22_ENST00000537909.1_Missense_Mutation_p.I161S NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 161 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) ACTGTCATTGATGTCCTGCAC 0.642 14 74 --- --- --- --- MTG2 26164 broad.mit.edu 37 20 60775813 60775813 + Missense_Mutation SNP G G A TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr20:60775813G>A ENST00000370823.3 + 7 919 c.901G>A c.(901-903)Gag>Aag p.E301K MTG2_ENST00000536470.1_Missense_Mutation_p.E73K|MTG2_ENST00000436421.2_Missense_Mutation_p.E143K NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 CAGGCACATCGAGCGCTGCCG 0.567 119 195 --- --- --- --- TLR8 51311 broad.mit.edu 37 X 12939904 12939904 + Silent SNP T T G TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chrX:12939904T>G ENST00000218032.6 + 2 2832 c.2745T>G c.(2743-2745)ctT>ctG p.L915L TLR8_ENST00000311912.5_Silent_p.L933L NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 915 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 ACGTTCTCCTTTGTCTAGAGG 0.443 50 2 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150791530 150791530 + Silent SNP C C T TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chrX:150791530C>T ENST00000370357.4 + 7 785 c.540C>T c.(538-540)ctC>ctT p.L180L NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 180 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GGACTCAGCTCCTGCAGGTGG 0.527 5 47 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061200 38061202 + In_Frame_Del DEL CTG CTG - TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chr14:38061200_38061202delCTG ENST00000250448.2 - 2 848_850 c.787_789delCAG c.(787-789)cagdel p.Q263del FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.Q230del NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 263 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TGAAGCGCTTCTGGCGGCGCAAG 0.719 13 9 --- --- --- --- MAOA 4128 broad.mit.edu 37 X 43591988 43591988 + Frame_Shift_Del DEL T T - TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 640ab7e7-1e44-444d-b470-196a000a9958 3a8cd4b7-4379-4fcc-b252-6c053077a0d8 g.chrX:43591988delT ENST00000338702.3 + 9 1121 c.998delT c.(997-999)attfs p.I333fs MAOA_ENST00000542639.1_Frame_Shift_Del_p.I200fs NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 333 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) GATGCTCCAATTTCAATAACC 0.443 65 6 --- --- --- ---