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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 118 0 0 1 0 0 SLC22A13 9390 broad.mit.edu 37 3 38317561 38317561 + Missense_Mutation SNP G G T TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr3:38317561G>T ENST00000311856.4 + 7 1260 c.1211G>T c.(1210-1212)tGt>tTt p.C404F SLC22A13_ENST00000450935.2_3'UTR NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 404 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) GGCCTGATGTGTATCATCATC 0.597000 7 6 5.4927e-09 6.12648e-09 1 1 0 PLP1 5354 broad.mit.edu 37 X 103045489 103045489 + Missense_Mutation SNP C C T TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chrX:103045489C>T ENST00000418604.1 + 8 1077 c.797C>T c.(796-798)gCc>gTc p.A266V PLP1_ENST00000361621.2_Missense_Mutation_p.A231V|PLP1_ENST00000303958.2_Missense_Mutation_p.A266V|PLP1_ENST00000466486.1_3'UTR NM_001128834.1 NP_001122306.1 P60201 MYPR_HUMAN proteolipid protein 1 266 cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 TACAACTTTGCCGTCCTTAAA 0.488000 4 231 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 53893606 53893606 + Silent SNP T T C TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr10:53893606T>C ENST00000373980.4 + 8 1359 c.942T>C c.(940-942)gaT>gaC p.D314D PRKG1_ENST00000401604.2_Silent_p.D299D|PRKG1_ENST00000373975.2_Silent_p.D17D|PRKG1_ENST00000373985.1_Silent_p.D287D NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 299 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) ATAGGGAAGATGTGAGAACAG 0.318000 12 19 0 0 1 0 0 USP14 9097 broad.mit.edu 37 18 197675 197675 + Missense_Mutation SNP A A G TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr18:197675A>G ENST00000261601.6 + 8 745 c.654A>G c.(652-654)atA>atG p.I218M USP14_ENST00000383589.2_Missense_Mutation_p.I172M|USP14_ENST00000582707.1_Missense_Mutation_p.I183M|USP14_ENST00000400266.3_Missense_Mutation_p.I207M NM_005151.3 NP_005142.1 P54578 UBP14_HUMAN ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 218 regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2) 11 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TGGAAGCAATAGAGGATGATT 0.308000 3 39 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171259406 171259406 + Silent SNP C C T TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr2:171259406C>T ENST00000334231.6 + 19 2205 c.2205C>T c.(2203-2205)ttC>ttT p.F735F MYO3B_ENST00000408978.4_Silent_p.F726F|MYO3B_ENST00000409044.3_Silent_p.F726F|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 726 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TCTTTGGATTCGAGAATTTTC 0.418000 40 52 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160786485 160786485 + Missense_Mutation SNP G G A TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr1:160786485G>A ENST00000263285.5 + 5 1204 c.1174G>A c.(1174-1176)Gtc>Atc p.V392I LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.V44I|LY9_ENST00000341032.4_Intron|LY9_ENST00000368035.1_Missense_Mutation_p.V44I NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 392 Ig-like C2-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GGGAAACACTGTCATGTACAC 0.557000 3 33 0 0 1 0 0 ELOVL6 79071 broad.mit.edu 37 4 110972670 110972670 + Missense_Mutation SNP T T G TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr4:110972670T>G ENST00000394607.3 - 5 785 c.622A>C c.(622-624)Atg>Ctg p.M208L ELOVL6_ENST00000302274.3_Missense_Mutation_p.M208L Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 208 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) ACACAGCCCATCAGCATCTGA 0.522000 18 29 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089879 9089879 + Missense_Mutation SNP C C T TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr19:9089879C>T ENST00000397910.4 - 1 2139 c.1936G>A c.(1936-1938)Ggt>Agt p.G646S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 646 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G646S(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTGGGACACCGTTCGTGGCC 0.562000 32 52 0 0 1 0 0 COX20 116228 broad.mit.edu 37 1 245005361 245005361 + Splice_Site SNP G G C TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr1:245005361G>C ENST00000411948.2 + 2 550 c.e2+1 COX20_ENST00000366528.3_Splice_Site|COX20_ENST00000498262.1_Splice_Site NM_198076.4 NP_932342.1 Q5RI15 FA36A_HUMAN COX20 cytochrome C oxidase assembly factor integral to membrane TTGTTCACTAGTGAGTATCTG 0.323000 12 33 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 23 0 0 1 0 0 SPOCK2 9806 broad.mit.edu 37 10 73827469 73827469 + Missense_Mutation SNP A A G TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr10:73827469A>G ENST00000373109.2 - 7 1055 c.611T>C c.(610-612)cTg>cCg p.L204P SPOCK2_ENST00000317376.4_Missense_Mutation_p.L204P|SPOCK2_ENST00000536168.1_Missense_Mutation_p.L204P|SPOCK2_ENST00000460053.1_5'UTR NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 204 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CAGGTCAGCCAGGTCCTGACC 0.612000 4 3 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22390767 22390767 + Silent SNP G G A rs138178541 byFrequency TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr4:22390767G>A ENST00000334304.5 - 18 2936 c.2667C>T c.(2665-2667)tgC>tgT p.C889C GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 889 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.C889C(1) 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) CAGTTATGCCGCAAACAATGA 0.423000 4 186 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116049184 116049184 + Silent SNP C C T TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr10:116049184C>T ENST00000603594.1 + 12 2379 c.2058C>T c.(2056-2058)atC>atT p.I686I VWA2_ENST00000392982.3_Silent_p.I686I NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 686 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) ATTCCCTGATCCACGTGGCAG 0.627000 14 28 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185335 56185335 + Missense_Mutation SNP G G A TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr11:56185335G>A ENST00000312253.1 - 1 373 c.374C>T c.(373-375)gCc>gTc p.A125V NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) ACTACAGATGGCGACATAGCA 0.463000 24 32 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 15 28 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 38 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39924150 39924150 + Missense_Mutation SNP C C T TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr1:39924150C>T ENST00000564288.1 + 90 21961 c.21184C>T c.(21184-21186)Cgc>Tgc p.R7062C MACF1_ENST00000361689.2_Missense_Mutation_p.R5003C|MACF1_ENST00000372915.3_Missense_Mutation_p.R6961C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5505C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5003C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7099C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4873C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5003C Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6961 EF-hand 1. 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 p.R5505S(1)|p.R5003S(1) 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) AGAGAAATCCCGCAGCGGAGG 0.468000 16 2 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160149454 160149454 + Silent SNP T T A TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr3:160149454T>A ENST00000357388.3 + 21 3589 c.3138T>A c.(3136-3138)ccT>ccA p.P1046P RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.P988P|SMC4_ENST00000344722.5_Silent_p.P1046P|SMC4_ENST00000360111.2_Silent_p.P988P|SMC4_ENST00000469762.1_Silent_p.P1021P NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 1046 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CACTGCATCCTATAGAAGATA 0.313000 18 24 0 0 1 0 0 APCDD1 147495 broad.mit.edu 37 18 10487787 10487787 + Missense_Mutation SNP G G A TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr18:10487787G>A ENST00000355285.4 + 5 1651 c.1297G>A c.(1297-1299)Ggg>Agg p.G433R NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 433 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) GGATGCCCGGGGGCGCTATCT 0.597000 23 14 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117701762 117701762 + Silent SNP C C T TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr12:117701762C>T ENST00000317775.6 - 13 2839 c.2154G>A c.(2152-2154)acG>acA p.T718T NOS1_ENST00000338101.4_Silent_p.T718T|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 718 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCCAGACATGCGTGTTCCAGG 0.592000 3 56 0 0 1 0 0 YWHAB 7529 broad.mit.edu 37 20 43532703 43532703 + Missense_Mutation SNP A A G TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr20:43532703A>G ENST00000372839.3 + 4 644 c.370A>G c.(370-372)Aaa>Gaa p.K124E YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.K124E NM_003404.3 NP_003395.1 P31946 1433B_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 124 activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction centrosome|cytosol|melanosome|perinuclear region of cytoplasm histone deacetylase binding|phosphoserine binding|protein domain specific binding breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1) 12 Myeloproliferative disorder(115;0.0122) CTTGAAAATGAAAGGAGATTA 0.328000 22 40 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35801065 35801065 + Splice_Site SNP A A G TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr9:35801065A>G ENST00000342694.2 + 7 1606 c.e7-1 NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) TTTCCCCTTCAGCTCCACTTT 0.507000 43 61 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33235364 33235364 + Missense_Mutation SNP C C T TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr1:33235364C>T ENST00000401073.2 + 5 747 c.677C>T c.(676-678)cCg>cTg p.P226L KIAA1522_ENST00000373481.3_Missense_Mutation_p.P178L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P167L NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 167 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CTGGGACTCCCGCAGCATGTG 0.657000 6 4 0 0 1 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197549 39197549 + Missense_Mutation SNP G G C TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr17:39197549G>C ENST00000306271.4 - 1 164 c.101C>G c.(100-102)tCc>tGc p.S34C NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 34 Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6). extracellular region|keratin filament p.S34C(6) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCTGGCAGGAGCTGGTCTC 0.612000 4 73 0 0 1 0 0 AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 8 29 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 3 4 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 4 8 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 5 11 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a858a98-7ba6-482e-ae4b-0d55b308b392 a88c4c8f-c82c-433b-acae-b00d5623e077 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 4 4 --- --- --- ---