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 NDUFS7 374291 broad.mit.edu 37 19 1387822 1387822 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr19:1387822G>A ENST00000313408.7 + 2 52 c.29G>A c.(28-30)cGc>cAc p.R10H NDUFS7_ENST00000539480.1_Missense_Mutation_p.R10H|NDUFS7_ENST00000233627.9_Missense_Mutation_p.R10H|NDUFS7_ENST00000546283.1_Missense_Mutation_p.R10H|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Missense_Mutation_p.R10H O75251 NDUS7_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 10 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding ovary(1) 1 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) NADH(DB00157) CCTGGCCTGCGCGGCTTCCGG 0.711000 9 41 0 0 0.000978159 0 0 TJAP1 93643 broad.mit.edu 37 6 43472753 43472753 + Silent SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:43472753G>A ENST00000372444.2 + 11 1237 c.804G>A c.(802-804)ccG>ccA p.P268P TJAP1_ENST00000259751.1_Silent_p.P268P|TJAP1_ENST00000372449.1_Silent_p.P278P|TJAP1_ENST00000372452.1_Silent_p.P268P|TJAP1_ENST00000438588.2_Silent_p.P278P|TJAP1_ENST00000436109.2_Silent_p.P268P|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372445.5_Silent_p.P278P NM_001146018.1 NP_001139490.1 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 278 Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCAGTCCCCCGGCCCCTGGCA 0.657000 9 52 0 0 0.000274275 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29888272 29888272 + Splice_Site SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr16:29888272C>T ENST00000308713.5 - 12 2437 c.e12-1 SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000537485.1_Splice_Site NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTCGGGACCTCTGCAGGGGAG 0.662000 3 18 0 0 6.4e-05 0 0 CHRND 1144 broad.mit.edu 37 2 233393036 233393036 + Missense_Mutation SNP T T C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr2:233393036T>C ENST00000258385.3 + 4 340 c.308T>C c.(307-309)cTc>cCc p.L103P CHRND_ENST00000543200.1_Missense_Mutation_p.L88P|CHRND_ENST00000536614.1_Missense_Mutation_p.L103P|CHRND_ENST00000457943.2_Missense_Mutation_p.S13P NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 103 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GTCCTGCGCCTCCCCCCGGAC 0.567000 3 56 0 0 6.4e-05 0 0 SMYD2 56950 broad.mit.edu 37 1 214478569 214478569 + Silent SNP A A C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:214478569A>C ENST00000366957.5 + 2 235 c.213A>C c.(211-213)gcA>gcC p.A71A SMYD2_ENST00000415093.2_Silent_p.A71A|SMYD2_ENST00000491455.1_3'UTR NM_020197.2 NP_064582.2 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 71 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) GCAAGCAGGCATTTTACTGCA 0.473000 32 109 0 0 0.000339439 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406952 75406952 + Missense_Mutation SNP A A G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr10:75406952A>G ENST00000394810.2 - 4 2607 c.2458T>C c.(2458-2460)Ttt>Ctt p.F820L SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 820 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) TGGGGGAAAAAGGGAGAGAGC 0.577000 3 116 0 0 6.4e-05 0 0 OR51L1 119682 broad.mit.edu 37 11 5021081 5021081 + Missense_Mutation SNP A A G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr11:5021081A>G ENST00000321543.1 + 1 869 c.869A>G c.(868-870)aAc>aGc p.N290S NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CCAGTCCTTAACCCTATTGTC 0.458000 5 43 0 0 0.000602214 0 0 A2ML1 144568 broad.mit.edu 37 12 9027036 9027036 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr12:9027036C>G ENST00000299698.7 + 34 4417 c.4237C>G c.(4237-4239)Cag>Gag p.Q1413E A2ML1_ENST00000539547.1_Missense_Mutation_p.Q922E NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1257 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TAAGAACACTCAGACTTACAC 0.433000 18 54 0 0 0.000566183 0 0 PEX5L 51555 broad.mit.edu 37 3 179525565 179525565 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:179525565C>T ENST00000467460.1 - 14 1903 c.1573G>A c.(1573-1575)Gag>Aag p.E525K PEX5L_ENST00000476138.1_Missense_Mutation_p.E482K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E466K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E523K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E333K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E501K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E417K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E417K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E490K NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 525 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) ACGGCTTCCTCGCTGCGGTCT 0.537000 28 227 0 0 0.00106085 0 0 CWF19L2 143884 broad.mit.edu 37 11 107224441 107224441 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr11:107224441C>G ENST00000282251.5 - 13 1921 c.1894G>C c.(1894-1896)Gac>Cac p.D632H CWF19L2_ENST00000433523.1_Missense_Mutation_p.D632H NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 632 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) GTGTAATAGTCTCCATCTGTT 0.388000 14 75 0 0 0.000308642 0 0 CIDECP 152302 broad.mit.edu 37 3 10059632 10059632 + RNA SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:10059632G>A ENST00000432401.1 - 0 505 GATGAGGGATGAGGCCTTGCC 0.602000 10 53 0 0 0.000673444 0 0 LILRB2 10288 broad.mit.edu 37 19 54782209 54782209 + Nonsense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr19:54782209G>C ENST00000391748.1 - 7 1290 c.1163C>G c.(1162-1164)tCa>tGa p.S388* LILRB2_ENST00000391749.4_Nonsense_Mutation_p.S388*|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.S272*|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.S388*|LILRB2_ENST00000391746.1_Nonsense_Mutation_p.S388* NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 388 Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGCGTGGGCTGAGGTCACAGG 0.592000 4 158 0 0 0.00024832 0 0 TRAF5 7188 broad.mit.edu 37 1 211545470 211545470 + Splice_Site SNP C C A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:211545470C>A ENST00000261464.5 + 11 1154 c.1099_splice c.e11-1 p.A367_splice TRAF5_ENST00000427925.2_Splice_Site_p.A261_splice|TRAF5_ENST00000336184.2_Splice_Site_p.A367_splice|TRAF5_ENST00000367004.3_Splice_Site_p.A367_splice NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 367 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) TTATTTGCAGCCGTTTTAGAA 0.318000 17 52 3.41278e-10 5.39883e-09 0.000566183 1 0 TENM4 26011 broad.mit.edu 37 11 78413296 78413296 + Silent SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr11:78413296G>A ENST00000278550.7 - 28 4824 c.4362C>T c.(4360-4362)gaC>gaT p.D1454D NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GCAGGAAGTGGTCAATGCCAG 0.547000 9 41 0 0 0.000274275 0 0 ATP8B3 148229 broad.mit.edu 37 19 1802615 1802615 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr19:1802615G>A ENST00000539485.1 - 11 1167 c.934C>T c.(934-936)Cgg>Tgg p.R312W ATP8B3_ENST00000310127.6_Missense_Mutation_p.R312W|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R259W|ATP8B3_ENST00000526092.1_Missense_Mutation_p.R259W O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 312 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTGCATCCGACTGTTAGGC 0.612000 7 20 0 0 0.000157383 0 0 MTMR14 64419 broad.mit.edu 37 3 9726305 9726305 + Missense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:9726305G>C ENST00000296003.4 + 11 1123 c.1001G>C c.(1000-1002)tGg>tCg p.W334S MTMR14_ENST00000351233.5_Missense_Mutation_p.W334S|MTMR14_ENST00000420925.1_Missense_Mutation_p.W88S|MTMR14_ENST00000353332.5_Missense_Mutation_p.W334S NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 334 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) ATCTCAGGCTGGGATCGGACC 0.577000 4 80 0 0 8.12818e-05 0 0 HRNR 388697 broad.mit.edu 37 1 152191395 152191395 + Missense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:152191395G>C ENST00000368801.2 - 3 2785 c.2710C>G c.(2710-2712)Ccc>Gcc p.P904A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 904 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATAGCTGGGAGACTGCCCT 0.647000 27 171 0 0 0.000184323 0 0 PRPH2 5961 broad.mit.edu 37 6 42689524 42689524 + Silent SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:42689524G>A ENST00000230381.5 - 1 788 c.549C>T c.(547-549)cgC>cgT p.R183R NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 183 cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) AGTCCAGGTAGCGATTGCTGA 0.493000 18 141 0 0 0.000132079 0 0 AWAT1 158833 broad.mit.edu 37 X 69458123 69458123 + Silent SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chrX:69458123C>T ENST00000374521.3 + 5 563 c.522C>T c.(520-522)ctC>ctT p.L174L NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 174 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 CTGGCAACCTCGTGGGCATTG 0.572000 10 31 0 0 0.00010058 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 60 0 0 6.4e-05 0 0 CYP2C9 1559 broad.mit.edu 37 10 96708979 96708979 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr10:96708979G>A ENST00000260682.6 + 5 769 c.757G>A c.(757-759)Gaa>Aaa p.E253K NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 253 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AGAACACCAAGAATCAATGGA 0.333000 6 45 0 0 3.59834e-05 0 0 LRRC57 255252 broad.mit.edu 37 15 42839505 42839505 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr15:42839505G>A ENST00000323443.2 - 3 813 c.446C>T c.(445-447)tCa>tTa p.S149L LRRC57_ENST00000397130.3_Missense_Mutation_p.S149L|LRRC57_ENST00000563454.1_Missense_Mutation_p.S149L Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 149 breast(1)|kidney(1)|lung(5)|prostate(1) 8 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) CTCTCCCACTGAGTCAGGTAT 0.468000 7 84 0 0 8.12818e-05 0 0 KAT8 84148 broad.mit.edu 37 16 31138398 31138398 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr16:31138398G>A ENST00000543774.2 + 5 840 c.505G>A c.(505-507)Gag>Aag p.E169K KAT8_ENST00000219797.4_Missense_Mutation_p.E169K|KAT8_ENST00000448516.2_Missense_Mutation_p.E169K Q9H7Z6 MYST1_HUMAN K(lysine) acetyltransferase 8 169 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding CTTGGAGAAGGAGCATGAGGC 0.622000 13 47 0 0 0.00010058 0 0 GOLM1 51280 broad.mit.edu 37 9 88650358 88650358 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr9:88650358C>G ENST00000388712.3 - 8 1108 c.940G>C c.(940-942)Gag>Cag p.E314Q GOLM1_ENST00000388711.3_Missense_Mutation_p.E314Q NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 314 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CCCTCCATCTCTGGATTTTCC 0.642000 OREG0019278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 131 0 0 0.000586117 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819000 159819000 + RNA SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:159819000C>G ENST00000497452.1 - 0 517 AGAAGCCTCTCACAAGCTCTT 0.458000 16 131 0 0 0.000566183 0 0 MDM1 56890 broad.mit.edu 37 12 68724993 68724993 + Silent SNP A A G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr12:68724993A>G ENST00000303145.7 - 2 113 c.27T>C c.(25-27)agT>agC p.S9S MDM1_ENST00000393543.3_Silent_p.S9S|MDM1_ENST00000430606.2_Silent_p.S9S|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Silent_p.S9S NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 9 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) TCTGGTATTCACTCAGCCCCT 0.418000 9 161 0 0 0.000274275 0 0 NAV3 89795 broad.mit.edu 37 12 78400292 78400292 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr12:78400292C>T ENST00000397909.2 + 8 1147 c.974C>T c.(973-975)tCt>tTt p.S325F NAV3_ENST00000266692.7_Missense_Mutation_p.S325F|NAV3_ENST00000536525.2_Missense_Mutation_p.S325F|NAV3_ENST00000228327.6_Missense_Mutation_p.S325F Q8IVL0 NAV3_HUMAN neuron navigator 3 325 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.S325F(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GCCATCCCTTCTCCAAGTGCC 0.547000 HNSCC(70;0.22) 14 65 0 0 0.000151284 0 0 RAVER2 55225 broad.mit.edu 37 1 65243359 65243359 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:65243359C>G ENST00000294428.3 + 3 448 c.370C>G c.(370-372)Cat>Gat p.H124D RAVER2_ENST00000371072.4_Missense_Mutation_p.H124D Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 124 RRM 1. cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 TCAGATGTTTCATCAATATTC 0.348000 3 111 0 0 0.00024832 0 0 ZNF592 9640 broad.mit.edu 37 15 85341886 85341886 + Nonsense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr15:85341886C>G ENST00000299927.3 + 5 2826 c.2804C>G c.(2803-2805)tCa>tGa p.S935* ZNF592_ENST00000560079.2_Nonsense_Mutation_p.S935* Q92610 ZN592_HUMAN zinc finger protein 592 935 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) GACACATCCTCAAGCCGCCCT 0.632000 9 50 0 0 0.000274275 0 0 DIP2A 23181 broad.mit.edu 37 21 47959793 47959793 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr21:47959793C>T ENST00000318711.7 + 17 2111 c.1928C>T c.(1927-1929)tCg>tTg p.S643L DIP2A_ENST00000427143.2_Missense_Mutation_p.S578L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S642L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S638L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S642L|DIP2A_ENST00000435722.3_Missense_Mutation_p.S642L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S599L NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 642 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGTGCAGGGTCGATCTCCTCC 0.597000 33 72 0 0 0.000491102 0 0 SLC44A2 57153 broad.mit.edu 37 19 10742817 10742817 + Silent SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr19:10742817C>T ENST00000586078.1 + 10 917 c.808C>T c.(808-810)Ctg>Ttg p.L270L SLC44A2_ENST00000407327.4_Silent_p.L268L|SLC44A2_ENST00000335757.5_Silent_p.L270L NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 270 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CATGGTGATTCTGGTGCTGGG 0.562000 5 131 0 0 3.59834e-05 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42111558 42111558 + Silent SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr15:42111558G>A ENST00000457542.2 + 21 2692 c.2406G>A c.(2404-2406)aaG>aaA p.K802K MAPKBP1_ENST00000260357.7_Silent_p.K641K|MAPKBP1_ENST00000456763.2_Silent_p.K808K|MAPKBP1_ENST00000221214.6_Silent_p.K685K|MAPKBP1_ENST00000514566.1_Silent_p.K802K NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 808 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TCCTTGCCAAGAGTACCAAGA 0.542000 13 116 0 0 0.000219431 0 0 ECT2L 345930 broad.mit.edu 37 6 139167812 139167812 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:139167812G>A ENST00000423192.1 + 7 1062 c.901G>A c.(901-903)Gag>Aag p.E301K ECT2L_ENST00000541398.1_Missense_Mutation_p.E232K|ECT2L_ENST00000367682.2_Missense_Mutation_p.E301K Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 301 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TCCTGCGTATGAGGTAGAGTA 0.398000 """N, Splice, Mis""" ETP ALL 7 273 0 0 0.000442599 0 0 HIST1H2AB 8335 broad.mit.edu 37 6 26033429 26033429 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:26033429C>G ENST00000259791.2 - 1 367 c.368G>C c.(367-369)aGc>aCc p.S123T NM_003513.2 NP_003504.2 P04908 H2A1B_HUMAN histone cluster 1, H2ab 123 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 CTTATGATGGCTCTCAGTTTT 0.478000 9 68 0 0 0.000442599 0 0 FCGR1A 2209 broad.mit.edu 37 1 149761632 149761632 + Silent SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:149761632G>A ENST00000369168.4 + 5 636 c.582G>A c.(580-582)ctG>ctA p.L194L HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA NM_000566.3 NP_000557.1 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor (CD64) 194 Ig-like C2-type 3. interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 10 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTCCAGTGCTGAATGCATCTG 0.498000 5 65 0 0 0.000442599 0 0 HRNR 388697 broad.mit.edu 37 1 152191393 152191393 + Silent SNP G G T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:152191393G>T ENST00000368801.2 - 3 2787 c.2712C>A c.(2710-2712)ccC>ccA p.P904P FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 904 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCATAGCTGGGAGACTGCC 0.647000 30 175 3.99451e-17 6.40809e-16 0.000279167 1 0 BCOR 54880 broad.mit.edu 37 X 39923017 39923017 + Missense_Mutation SNP G G A rs147934033 TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chrX:39923017G>A ENST00000342274.4 - 8 3951 c.3589C>T c.(3589-3591)Cgg>Tgg p.R1197W BCOR_ENST00000378463.1_Missense_Mutation_p.R74W|BCOR_ENST00000378444.4_Missense_Mutation_p.R1231W|BCOR_ENST00000397354.3_Missense_Mutation_p.R1197W|BCOR_ENST00000378455.4_Missense_Mutation_p.R1179W NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1231 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CTGCTTTGCCGGCCAGGTTTG 0.547000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 4 83 0 0 0.00024832 0 0 PPFIA4 8497 broad.mit.edu 37 1 203017400 203017400 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:203017400G>A ENST00000367240.2 + 10 1713 c.1186G>A c.(1186-1188)Gag>Aag p.E396K PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000414050.2_Missense_Mutation_p.E103K|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E396K O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 93 SAM 1. cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GCGGCAGCTGGAGGGACAGCT 0.672000 6 36 0 0 3.59834e-05 0 0 MACF1 23499 broad.mit.edu 37 1 39903546 39903546 + Missense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:39903546G>C ENST00000564288.1 + 71 18863 c.18086G>C c.(18085-18087)aGa>aCa p.R6029T MACF1_ENST00000545844.1_Missense_Mutation_p.R3970T|MACF1_ENST00000289893.4_Missense_Mutation_p.R4472T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6066T|MACF1_ENST00000361689.2_Missense_Mutation_p.R3970T|MACF1_ENST00000372915.3_Missense_Mutation_p.R5928T|MACF1_ENST00000539005.1_Missense_Mutation_p.R3840T|MACF1_ENST00000317713.7_Missense_Mutation_p.R3970T Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6041 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GACAAGATCAGAGAGTGCATC 0.488000 3 134 0 0 6.4e-05 0 0 CCDC89 220388 broad.mit.edu 37 11 85396815 85396815 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr11:85396815C>T ENST00000316398.3 - 1 505 c.359G>A c.(358-360)cGg>cAg p.R120Q NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 120 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CTCTAGTTTCCGACTGTACTC 0.542000 6 103 0 0 8.12818e-05 0 0 NSD1 64324 broad.mit.edu 37 5 176687121 176687121 + Nonsense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr5:176687121C>T ENST00000439151.2 + 14 5143 c.5098C>T c.(5098-5100)Cga>Tga p.R1700* NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1431*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1431*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1597* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1700 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GCGGGGCTGCCGAAATCATGA 0.433000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 5 59 0 0 0.000602214 0 0 FBN3 84467 broad.mit.edu 37 19 8152087 8152087 + Missense_Mutation SNP C C T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr19:8152087C>T ENST00000600128.1 - 54 7042 c.6628G>A c.(6628-6630)Gag>Aag p.E2210K FBN3_ENST00000601739.1_Missense_Mutation_p.E2210K|FBN3_ENST00000270509.2_Missense_Mutation_p.E2210K Q75N90 FBN3_HUMAN fibrillin 3 2210 EGF-like 36; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TCTGCACACTCGTCCACATCT 0.632000 6 54 0 0 8.12818e-05 0 0 ASTN2 23245 broad.mit.edu 37 9 119382714 119382714 + Missense_Mutation SNP C C G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr9:119382714C>G ENST00000313400.4 - 18 3181 c.3081G>C c.(3079-3081)aaG>aaC p.K1027N ASTN2_ENST00000288520.5_Missense_Mutation_p.K128N|ASTN2_ENST00000373996.3_Missense_Mutation_p.K1023N|ASTN2_ENST00000358637.4_Missense_Mutation_p.K79N|ASTN2_ENST00000361477.3_Missense_Mutation_p.K79N|ASTN2_ENST00000361209.2_Missense_Mutation_p.K976N|ASTN2_ENST00000341734.4_Missense_Mutation_p.K79N O75129 ASTN2_HUMAN astrotactin 2 1027 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TCAGTGCACTCTTGAAGGCCT 0.507000 34 150 0 0 0.00058488 0 0 STAB1 23166 broad.mit.edu 37 3 52544478 52544478 + Silent SNP T T C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:52544478T>C ENST00000321725.6 + 25 2818 c.2742T>C c.(2740-2742)ggT>ggC p.G914G NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 914 EGF-like 8. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACATGAGAGGTGGCTGCCACA 0.647000 16 33 0 0 0.000175454 0 0 GPX8 493869 broad.mit.edu 37 5 54456872 54456872 + Missense_Mutation SNP T T G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr5:54456872T>G ENST00000503787.1 + 2 330 c.255T>G c.(253-255)aaT>aaG p.N85K GPX8_ENST00000515370.1_Missense_Mutation_p.N34K|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000296734.6_Intron NM_001008397.2 NP_001008398.2 Q8TED1 GPX8_HUMAN glutathione peroxidase 8 (putative) 85 response to oxidative stress integral to membrane glutathione peroxidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1) 11 Glutathione(DB00143) CAGACAGAAATTACTTAGGGC 0.463000 13 35 0 0 0.000219431 0 0 TM7SF3 51768 broad.mit.edu 37 12 27149786 27149786 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr12:27149786G>A ENST00000343028.4 - 4 632 c.407C>T c.(406-408)cCt>cTt p.P136L TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 136 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) ACAGCCTCCAGGGACAGGATC 0.353000 4 22 0 0 0.00024832 0 0 NMT1 4836 broad.mit.edu 37 17 43175832 43175832 + Missense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr17:43175832G>C ENST00000592782.1 + 8 927 c.796G>C c.(796-798)Gag>Cag p.E266Q NMT1_ENST00000258960.2_Missense_Mutation_p.E266Q P30419 NMT1_HUMAN N-myristoyltransferase 1 266 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) TCTGATCCGAGAGATCACCAG 0.522000 4 127 0 0 0.000602214 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987971 154987971 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr1:154987971G>A ENST00000368426.3 + 3 972 c.835G>A c.(835-837)Gaa>Aaa p.E279K ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E279K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E313K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E279K NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 279 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGAGGAAGAAGAAGAGGAGCT 0.657000 6 29 0 0 3.59834e-05 0 0 LINGO2 158038 broad.mit.edu 37 9 27949880 27949880 + Missense_Mutation SNP C C A rs148104069 TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr9:27949880C>A ENST00000379992.2 - 6 1239 c.790G>T c.(790-792)Gta>Tta p.V264L LINGO2_ENST00000308675.3_Missense_Mutation_p.V264L NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 264 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) AGGAAGGGTACAGTAGACAGA 0.463000 26 124 1.74197e-06 2.71796e-05 0.00106085 1 0 NKTR 4820 broad.mit.edu 37 3 42679772 42679772 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr3:42679772G>A ENST00000232978.8 + 13 2764 c.2576G>A c.(2575-2577)aGa>aAa p.R859K RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 859 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TCAAAAAAAAGAACTTTGAAA 0.373000 7 49 0 0 0.000274275 0 0 AP3B1 8546 broad.mit.edu 37 5 77590312 77590312 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr5:77590312G>A ENST00000255194.6 - 1 267 c.92C>T c.(91-93)tCg>tTg p.S31L AP3B1_ENST00000519295.1_5'UTR NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 31 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GAAGGCCCCCGAGGGGGAAAT 0.607000 Hermansky-Pudlak syndrome 12 73 0 0 0.00010058 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 6 46 0 0 3.59834e-05 0 0 AMBN 258 broad.mit.edu 37 4 71467197 71467197 + Silent SNP A A G TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr4:71467197A>G ENST00000322937.6 + 6 460 c.357A>G c.(355-357)caA>caG p.Q119Q AMBN_ENST00000449493.2_Silent_p.Q104Q NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 119 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) TGAAGCCTCAACAGCCAGGAC 0.502000 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 146 0 0 0.000781405 0 0 FAM53C 51307 broad.mit.edu 37 5 137680937 137680937 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr5:137680937G>A ENST00000239906.5 + 4 988 c.560G>A c.(559-561)aGa>aAa p.R187K FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.R187K NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 187 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCAGCTCACAGACCCTACAGC 0.642000 43 213 0 0 0.000509022 0 0 BRD8 10902 broad.mit.edu 37 5 137500599 137500599 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr5:137500599G>A ENST00000254900.5 - 12 1906 c.1535C>T c.(1534-1536)cCt>cTt p.P512L BRD8_ENST00000230901.5_Missense_Mutation_p.P585L|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000455658.2_Missense_Mutation_p.P471L|BRD8_ENST00000411594.2_Missense_Mutation_p.P515L|BRD8_ENST00000402931.1_Missense_Mutation_p.P512L NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 512 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGGTTCTGCAGGTTCCACCTT 0.502000 6 122 0 0 8.12818e-05 0 0 STYX 6815 broad.mit.edu 37 14 53223283 53223283 + Missense_Mutation SNP A A T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr14:53223283A>T ENST00000354586.4 + 5 550 c.257A>T c.(256-258)gAt>gTt p.D86V STYX_ENST00000442123.2_Missense_Mutation_p.D86V|STYX_ENST00000556861.1_Intron NM_145251.3 NP_660294.1 Q8WUJ0 STYX_HUMAN serine/threonine/tyrosine interacting protein 86 protein dephosphorylation|spermatogenesis cytoplasm protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(41;0.176) TTAGTCCTGGATATTGCAGAT 0.249000 8 49 0 0 0.000442599 0 0 AKAP12 9590 broad.mit.edu 37 6 151670504 151670504 + Missense_Mutation SNP G G C TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:151670504G>C ENST00000402676.2 + 4 1218 c.978G>C c.(976-978)aaG>aaC p.K326N AKAP12_ENST00000354675.6_Missense_Mutation_p.K228N|AKAP12_ENST00000359755.5_Missense_Mutation_p.K221N|AKAP12_ENST00000253332.1_Missense_Mutation_p.K326N NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 326 Involved in PKC-binding (Probable). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CTTCAGAGAAGAAAAAGGAAC 0.507000 10 45 0 0 0.000442599 0 0 ZNF76 7629 broad.mit.edu 37 6 35262305 35262305 + Missense_Mutation SNP G G A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr6:35262305G>A ENST00000373953.3 + 13 1833 c.1567G>A c.(1567-1569)Gca>Aca p.A523T ZNF76_ENST00000339411.5_Missense_Mutation_p.A468T|ZNF76_ENST00000440666.2_Missense_Mutation_p.A497T NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 523 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 TCAACAGGTGGCACTGTTGGC 0.517000 OREG0017373 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 56 0 0 3.59834e-05 0 0 ABCA12 26154 broad.mit.edu 37 2 216002861 216002861 + Splice_Site SNP A A T TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr2:216002861A>T ENST00000272895.7 - 1 289 c.e1+1 ABCA12_ENST00000412081.1_Splice_Site NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTTTTAACTCACCGGCTGCCT 0.428000 130 144 0 0 0.000781405 0 0 SCN2A 6326 broad.mit.edu 37 2 166170610 166170610 + Frame_Shift_Del DEL G G - TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr2:166170610delG ENST00000375437.2 + 10 1665 c.1375delG c.(1375-1377)aafs p.E459fs SCN2A_ENST00000375427.2_Frame_Shift_Del_p.E459fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.E459fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.E459fs NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 459 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GCAACAAGAAGAAGCTCAGGT 0.408 7 31 --- --- --- --- RP11-555J4.4 0 broad.mit.edu 37 9 32635684 32635684 + RNA DEL C C - TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr9:32635684delC ENST00000430787.1 + 0 1602 GGCAAAGGGGCGGGGGGAAAA 0.527 2 4 --- --- --- --- UEVLD 55293 broad.mit.edu 37 11 18557990 18557992 + In_Frame_Del DEL CTT CTT - TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr11:18557990_18557992delCTT ENST00000396197.3 - 10 1113_1115 c.1085_1087delAAG c.(1084-1089)gta>g p.EV362del UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_In_Frame_Del_p.EV340del|UEVLD_ENST00000535484.1_In_Frame_Del_p.EV324del|UEVLD_ENST00000543987.1_In_Frame_Del_p.EV362del|UEVLD_ENST00000320750.6_In_Frame_Del_p.EV340del|UEVLD_ENST00000541984.1_Intron NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 362 cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TGACTCACTACTTCTTCTTGGCC 0.374 20 76 --- --- --- --- IL25 64806 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 7 119 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c00b622-c4a4-4862-b14a-a97b7261f46f bf151f1f-c716-4f9b-b159-f3958a81e2bc g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 3 4 --- --- --- ---