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 PLCH2 9651 broad.mit.edu 37 1 2415902 2415902 + Missense_Mutation SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr1:2415902G>A ENST00000449969.1 + 5 741 c.580G>A c.(580-582)Gac>Aac p.D194N PLCH2_ENST00000378488.3_Missense_Mutation_p.D221N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D221N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D221N O75038 PLCH2_HUMAN phospholipase C, eta 2 221 EF-hand 1. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.D221N(1)|p.D68N(1) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGACACGGATGACCACCAAGG 0.597 20 32 --- --- --- --- AKNAD1 254268 broad.mit.edu 37 1 109369914 109369914 + Missense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr1:109369914C>T ENST00000370001.3 - 11 2117 c.1849G>A c.(1849-1851)Gtg>Atg p.V617M AKNAD1_ENST00000369995.3_Missense_Mutation_p.V617M|AKNAD1_ENST00000369994.1_Missense_Mutation_p.V587M|AKNAD1_ENST00000357393.4_Missense_Mutation_p.V324M NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 617 p.V617M(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TTTTTCTCCACGTTTTGCTTC 0.383 21 230 --- --- --- --- FCGR1A 2209 broad.mit.edu 37 1 149760144 149760144 + Missense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr1:149760144C>T ENST00000369168.4 + 4 584 c.530C>T c.(529-531)aCa>aTa p.T177I RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron NM_000566.3 NP_000557.1 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor (CD64) 177 Ig-like C2-type 2. 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) CATCGCTACACATCAGCAGGA 0.413 5 198 --- --- --- --- TMEM214 54867 broad.mit.edu 37 2 27258872 27258872 + Silent SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr2:27258872G>A ENST00000238788.9 + 5 734 c.672G>A c.(670-672)caG>caA p.Q224Q TMEM214_ENST00000404032.3_Silent_p.Q179Q NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 224 integral to membrane protein binding p.Q224Q(1) kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TCTGTATCCAGGCCATCCTGC 0.517 18 44 --- --- --- --- IGKV1D-42 28892 broad.mit.edu 37 2 90229249 90229249 + RNA SNP C C A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr2:90229249C>A ENST00000390278.2 + 0 89 TCAGATTTGACATCCAGATGA 0.438 39 16 --- --- --- --- IRAK2 3656 broad.mit.edu 37 3 10251301 10251301 + Silent SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr3:10251301G>A ENST00000256458.4 + 4 543 c.453G>A c.(451-453)ccG>ccA p.P151P NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 151 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity p.P151P(2) breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 CCCACCAGCCGGCCTTTCTCC 0.597 7 275 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118469852 118469852 + Missense_Mutation SNP C C G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr5:118469852C>G ENST00000311085.8 + 12 2313 c.2233C>G c.(2233-2235)Ctt>Gtt p.L745V DMXL1_ENST00000539542.1_Missense_Mutation_p.L745V NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 745 p.L745V(1) breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GCTGCCCACTCTTATACCCAG 0.383 8 242 --- --- --- --- HSPA9 3313 broad.mit.edu 37 5 137893676 137893676 + Splice_Site SNP C C A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr5:137893676C>A ENST00000297185.3 - 13 1641 c.e13-1 HSPA9_ENST00000501917.2_Intron NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GAATTCCAATCTAAAATAAAT 0.388 4 110 --- --- --- --- KIFC2 90990 broad.mit.edu 37 8 145693004 145693004 + Missense_Mutation SNP C C G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr8:145693004C>G ENST00000301332.2 + 5 983 c.606C>G c.(604-606)atC>atG p.I202M KIFC2_ENST00000301331.5_5'UTR NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 202 Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding p.I202M(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) AGCAGCTCATCCTGGGACAGG 0.647 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 61 --- --- --- --- KIF5B 3799 broad.mit.edu 37 10 32337438 32337438 + Silent SNP T T C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr10:32337438T>C ENST00000302418.4 - 2 625 c.168A>G c.(166-168)acA>acG p.T56T NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 56 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity p.T56T(1) KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) GCTCTTGAGATGTGCTTGACT 0.338 T """RET, ALK""" NSCLC 5 134 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 20119232 20119232 + Missense_Mutation SNP A A G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr11:20119232A>G ENST00000396085.1 + 32 6492 c.6131A>G c.(6130-6132)gAg>gGg p.E2044G NAV2_ENST00000527559.2_Missense_Mutation_p.E2029G|NAV2_ENST00000360655.4_Missense_Mutation_p.E1977G|NAV2_ENST00000540292.1_Missense_Mutation_p.E2031G|NAV2_ENST00000396087.3_Missense_Mutation_p.E2100G|NAV2_ENST00000311043.8_Missense_Mutation_p.E1105G|NAV2_ENST00000533917.1_Missense_Mutation_p.E1105G|NAV2_ENST00000349880.4_Missense_Mutation_p.E2041G NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2100 nucleus ATP binding|helicase activity p.E2100G(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GAAACACCGGAGCTGCTTCCT 0.493 8 135 --- --- --- --- GNB3 2784 broad.mit.edu 37 12 6950751 6950751 + Splice_Site SNP A A G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr12:6950751A>G ENST00000229264.3 + 4 464 c.59A>G c.(58-60)gAt>gGt p.D20G GNB3_ENST00000435982.2_Splice_Site_p.D20G NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 20 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity p.D20G(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 TCCCTGCAGGATGCCAGGAAA 0.667 12 28 --- --- --- --- PCK2 5106 broad.mit.edu 37 14 24572967 24572967 + Missense_Mutation SNP A A G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr14:24572967A>G ENST00000545054.2 + 10 2233 c.1315A>G c.(1315-1317)Att>Gtt p.I439V NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.I439V|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.I573V|PCK2_ENST00000558096.1_Missense_Mutation_p.I407V Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 573 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity p.I573V(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) AGAGACACCCATTGGGCTGGT 0.607 41 65 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75515946 75515946 + Missense_Mutation SNP G G C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr14:75515946G>C ENST00000355774.2 - 2 628 c.413C>G c.(412-414)aCt>aGt p.T138S MLH3_ENST00000238662.7_Missense_Mutation_p.T138S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.T138S|MLH3_ENST00000556257.1_Missense_Mutation_p.T138S NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 138 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.T138S(2) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) GCTTGCTCTAGTCACATCAGC 0.428 Mismatch excision repair (MMR) 10 186 --- --- --- --- ASB2 51676 broad.mit.edu 37 14 94420665 94420665 + Missense_Mutation SNP C C T TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr14:94420665C>T ENST00000555019.1 - 4 906 c.476G>A c.(475-477)cGa>cAa p.R159Q ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.R111Q NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 111 intracellular signal transduction p.R111Q(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCCCTCACCTCGCTGCAGGAC 0.612 4 76 --- --- --- --- ALDH1A2 8854 broad.mit.edu 37 15 58306075 58306075 + Missense_Mutation SNP C C G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr15:58306075C>G ENST00000249750.4 - 3 1111 c.344G>C c.(343-345)cGg>cCg p.R115P ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R94P|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R115P|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R19P|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R86P NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 115 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity p.R115P(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TGCCCTGTCCCGTTCCACCAA 0.458 19 532 --- --- --- --- IRF8 3394 broad.mit.edu 37 16 85936702 85936702 + Silent SNP T T C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr16:85936702T>C ENST00000268638.5 + 2 503 c.81T>C c.(79-81)atT>atC p.I27I IRF8_ENST00000563180.1_Silent_p.I27I NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 27 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.I27I(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) CAGGACTGATTTGGGAGAATG 0.478 3 74 --- --- --- --- PTPRM 5797 broad.mit.edu 37 18 8113637 8113637 + Silent SNP C C A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr18:8113637C>A ENST00000332175.8 + 12 3047 c.2010C>A c.(2008-2010)ctC>ctA p.L670L PTPRM_ENST00000400053.4_Silent_p.L608L|PTPRM_ENST00000444013.1_Silent_p.L457L|PTPRM_ENST00000400060.4_Silent_p.L670L|PTPRM_ENST00000580170.1_Silent_p.L670L NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 670 Fibronectin type-III 4. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity p.L670L(2) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CAGACAGCCTCCAAGCTGCGC 0.423 93 114 --- --- --- --- CEACAM6 4680 broad.mit.edu 37 19 42259586 42259586 + Missense_Mutation SNP C C A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr19:42259586C>A ENST00000199764.6 + 1 258 c.40C>A c.(40-42)Ccc>Acc p.P14T CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 14 cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane p.P14T(1) breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) ATTGCATGTCCCCTGGAAGGA 0.607 5 97 --- --- --- --- MAPRE1 22919 broad.mit.edu 37 20 31427559 31427559 + Nonsense_Mutation SNP C C G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chr20:31427559C>G ENST00000375571.5 + 5 633 c.494C>G c.(493-495)tCa>tGa p.S165* NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 165 Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding p.S165*(1) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 AGGCCCATCTCAACACAGAGA 0.527 12 457 --- --- --- --- HDAC8 55869 broad.mit.edu 37 X 71787745 71787745 + Missense_Mutation SNP G G C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chrX:71787745G>C ENST00000439122.2 - 4 717 c.431C>G c.(430-432)gCa>gGa p.A144G HDAC8_ENST00000373571.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373573.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373556.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.A144G|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.A144G|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373560.2_Missense_Mutation_p.A144G|HDAC8_ENST00000373589.4_Intron NM_001166419.1 NP_001159891.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 144 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding p.A144G(1) breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) TTACTTCTTTGCATGATGCCA 0.418 11 122 --- --- --- --- MIR4485 100616263 broad.mit.edu 37 M 2916 2916 + RNA SNP G G A TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chrM:2916G>A ENST00000387347.2 + 0 1246 NR_039705.1 AACTTGACCAACGGAACAAGT 0.478 5 211 --- --- --- --- MT-ND4 4538 broad.mit.edu 37 M 11991 11991 + Missense_Mutation SNP T T C TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1730f32-f97d-49e7-beb7-593c8ca8a907 c66f09bd-db15-4633-aeba-4f579345c6d0 g.chrM:11991T>C ENST00000361381.2 + 1 1232 c.1232T>C c.(1231-1233)tTt>tCt p.F411S mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CCTCTACATATTTACCACAAC 0.438 194 38 --- --- --- ---