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 ALOX5 240 broad.mit.edu 37 10 45941110 45941110 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr10:45941110G>A ENST00000374391.2 + 14 2053 c.2000G>A c.(1999-2001)cGg>cAg p.R667Q ALOX5_ENST00000542434.1_Missense_Mutation_p.R610Q|RP11-67C2.2_ENST00000435635.1_RNA NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 667 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TCCCCAGACCGGATTCCGAAC 0.587000 8 83 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56586443 56586443 + Silent SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr18:56586443G>A ENST00000336078.4 + 4 1700 c.924G>A c.(922-924)ccG>ccA p.P308P ZNF532_ENST00000591808.1_Silent_p.P308P|ZNF532_ENST00000591230.1_Silent_p.P308P|ZNF532_ENST00000591083.1_Silent_p.P308P|ZNF532_ENST00000589288.1_Silent_p.P308P NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 ATGACAGTCCGAGAGCCGCTG 0.517000 5 117 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992202 67992202 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr18:67992202G>A ENST00000397942.3 + 2 614 c.298G>A c.(298-300)Gac>Aac p.D100N SOCS6_ENST00000582322.1_Missense_Mutation_p.D100N NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 100 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GAGCTCTGCCGACGAGGACAC 0.552000 4 72 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73046597 73046597 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr10:73046597G>A ENST00000335350.6 + 5 1120 c.704G>A c.(703-705)cGg>cAg p.R235Q UNC5B_ENST00000373192.4_Missense_Mutation_p.R235Q NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 235 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GCCAAACGCCGGAGCACCACT 0.647000 7 203 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84255940 84255940 + Silent SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr16:84255940G>A ENST00000308251.4 - 3 1511 c.1443C>T c.(1441-1443)acC>acT p.T481T NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 481 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 TGGCTGGACCGGTGTTTTGGA 0.587000 4 164 0 0 1 0 0 SLC27A4 10999 broad.mit.edu 37 9 131115818 131115818 + Missense_Mutation SNP C C G TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr9:131115818C>G ENST00000300456.3 + 9 1439 c.1322C>G c.(1321-1323)cCa>cGa p.P441R SLC27A4_ENST00000372870.1_Intron NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 441 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 CCCTGCCAGCCAGGTCTGCCA 0.642000 5 73 0 0 1 0 0 SPOPL 339745 broad.mit.edu 37 2 139326635 139326635 + Silent SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr2:139326635G>A ENST00000280098.4 + 11 1543 c.1164G>A c.(1162-1164)cgG>cgA p.R388R NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 388 nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) CACGCAAACGGCTAAAACAGT 0.443000 5 263 0 0 1 0 0 HMGB4 127540 broad.mit.edu 37 1 34330062 34330062 + Silent SNP C C T TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr1:34330062C>T ENST00000522796.1 + 4 2175 c.270C>T c.(268-270)ccC>ccT p.P90P HMGB4_ENST00000519684.1_Silent_p.P90P|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron B2R4X7 B2R4X7_HUMAN high mobility group box 4 90 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGCGGGATCCCCAGGAACCCA 0.532000 4 125 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937183 33937183 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr5:33937183G>A ENST00000330120.3 + 1 693 c.338G>A c.(337-339)cGc>cAc p.R113H NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 113 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CAGGGCTGGCGCAAGTCCTCT 0.592000 5 66 0 0 1 0 0 GNS 2799 broad.mit.edu 37 12 65122744 65122744 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr12:65122744G>A ENST00000258145.3 - 10 1362 c.1192C>T c.(1192-1194)Ccc>Tcc p.P398S GNS_ENST00000418919.2_Missense_Mutation_p.P342S|GNS_ENST00000543646.1_Missense_Mutation_p.P430S|GNS_ENST00000542058.1_Missense_Mutation_p.P378S NM_002076.3 NP_002067.1 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase 398 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4) 15 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) ACCAAAATGGGCAATAAGGAC 0.408000 3 39 0 0 1 0 0 CCNF 899 broad.mit.edu 37 16 2499864 2499864 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr16:2499864G>A ENST00000397066.4 + 13 1523 c.1435G>A c.(1435-1437)Gga>Aga p.G479R NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 479 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding p.G479V(1)|p.G479*(1) breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) GGACCTCACCGGATTCTCCTA 0.617000 5 184 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 50 0 0 1 0 0 PCIF1 63935 broad.mit.edu 37 20 44569514 44569514 + Missense_Mutation SNP A A G TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr20:44569514A>G ENST00000372409.3 + 6 818 c.454A>G c.(454-456)Acg>Gcg p.T152A NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 152 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 AGGAACCCCAACGCTGAAGAT 0.562000 11 99 0 0 1 0 0 CC2D2A 57545 broad.mit.edu 37 4 15504111 15504111 + Missense_Mutation SNP C C T TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr4:15504111C>T ENST00000424120.1 + 5 561 c.307C>T c.(307-309)Cgc>Tgc p.R103C CC2D2A_ENST00000413206.1_Missense_Mutation_p.R103C|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.R103C|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R54C Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 103 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 CATGAGGGGACGCATGAGGGA 0.388000 6 48 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39079337 39079337 + Missense_Mutation SNP A A G TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr12:39079337A>G ENST00000331366.5 - 16 1322 c.1226T>C c.(1225-1227)cTa>cCa p.L409P CPNE8_ENST00000538596.2_Missense_Mutation_p.L78P|CPNE8_ENST00000360449.3_Missense_Mutation_p.L397P NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 409 VWFA. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) GGGCCCATATAGTTGTACAGA 0.428000 3 84 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95690546 95690546 + Silent SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr8:95690546G>A ENST00000433389.2 + 13 1957 c.1767G>A c.(1765-1767)gcG>gcA p.A589A ESRP1_ENST00000358397.5_Silent_p.A585A|ESRP1_ENST00000423620.2_Silent_p.A585A|ESRP1_ENST00000454170.2_Silent_p.A589A NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 589 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 CCTCCACAGCGTACTACCCAG 0.512000 4 60 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133967303 133967303 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr10:133967303G>A ENST00000298622.4 + 17 2246 c.2108G>A c.(2107-2109)cGg>cAg p.R703Q JAKMIP3_ENST00000477275.1_3'UTR NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GCGCTGCAGCGGAAGATGGTG 0.637000 6 160 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 52 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21236228 21236228 + Missense_Mutation SNP A A C TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr2:21236228A>C ENST00000233242.1 - 25 4147 c.4020T>G c.(4018-4020)ttT>ttG p.F1340L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1340 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGGAATGGTAAAAGTAGGGA 0.488000 4 106 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92087645 92087645 + Missense_Mutation SNP G G T TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr11:92087645G>T ENST00000298047.6 + 1 2384 c.2367G>T c.(2365-2367)atG>atT p.M789I FAT3_ENST00000541502.1_Missense_Mutation_p.M789I|FAT3_ENST00000409404.2_Missense_Mutation_p.M789I|FAT3_ENST00000525166.1_Missense_Mutation_p.M639I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 789 Cadherin 7. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTATGCCCATGGATCGAGAAC 0.408000 TCGA Ovarian(4;0.039) 3 48 0.00909568 0.00958734 1 1 0 EVPL 2125 broad.mit.edu 37 17 74005011 74005011 + Silent SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr17:74005011G>A ENST00000301607.3 - 22 4528 c.4275C>T c.(4273-4275)ttC>ttT p.F1425F EVPL_ENST00000586740.1_Silent_p.F1447F NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1425 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGTCCTCCTGGAAGCTGAGCA 0.692000 5 119 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68370842 68370842 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr11:68370842G>A ENST00000393799.2 + 22 2599 c.2332G>A c.(2332-2334)Gac>Aac p.D778N PPP6R3_ENST00000534534.1_Missense_Mutation_p.D546N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D743N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D772N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D749N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D778N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D698N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D698N|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D778N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D732N Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 778 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGCCAGCTCTGACGGAGAGGA 0.537000 6 58 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31609355 31609355 + Silent SNP T T C TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr6:31609355T>C ENST00000404765.2 - 18 2809 c.2520A>G c.(2518-2520)acA>acG p.T840T BAG6_ENST00000375964.6_Silent_p.T810T|BAG6_ENST00000211379.5_Silent_p.T804T|BAG6_ENST00000439687.2_Silent_p.T678T|BAG6_ENST00000375976.4_Silent_p.T804T|BAG6_ENST00000362049.6_Silent_p.T804T P46379 BAG6_HUMAN BCL2-associated athanogene 6 810 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CCGTGATCAATGTGTGGGTTG 0.527000 9 137 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56586604 56586604 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr18:56586604G>A ENST00000336078.4 + 4 1861 c.1085G>A c.(1084-1086)cGc>cAc p.R362H ZNF532_ENST00000591808.1_Missense_Mutation_p.R362H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R362H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R362H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R362H NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CCCAAAGTCCGCATAAAAACC 0.507000 4 67 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154394712 154394712 + Silent SNP C C T TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr5:154394712C>T ENST00000435029.4 + 1 1453 c.1293C>T c.(1291-1293)aaC>aaT p.N431N NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 431 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAAAACTGAACGCCAAGCTAG 0.448000 6 97 0 0 1 0 0 RAB7A 7879 broad.mit.edu 37 3 128526443 128526443 + Missense_Mutation SNP G G C TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr3:128526443G>C ENST00000265062.3 + 5 703 c.457G>C c.(457-459)Gag>Cag p.E153Q RAB7A_ENST00000482525.1_Missense_Mutation_p.E106Q|RAB7A_ENST00000485280.1_Intron NM_004637.5 NP_004628.4 P51149 RAB7A_HUMAN RAB7A, member RAS oncogene family 153 endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(114;0.231) TCCCTACTTTGAGACCAGTGC 0.552000 9 115 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33947385 33947385 + Silent SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr5:33947385G>A ENST00000382102.3 - 6 1308 c.1251C>T c.(1249-1251)ctC>ctT p.L417L SLC45A2_ENST00000342059.3_Silent_p.L358L|SLC45A2_ENST00000296589.4_Silent_p.L417L NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 417 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 CATTCGGGAAGAGCCCAATAA 0.483000 10 127 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327909 16327909 + Missense_Mutation SNP A A C rs59310777 by1000genomes TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr6:16327909A>C ENST00000244769.4 - 8 1569 c.633T>G c.(631-633)caT>caG p.H211Q ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 211 Poly-Gln. H -> HQ (in Ref. 1; CAA55793). cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.H209_H211delHQH(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgatgctgatgct 0.672000 3 24 0 0 1 0 0 PTPN18 26469 broad.mit.edu 37 2 131116497 131116497 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr2:131116497G>A ENST00000175756.5 + 2 252 c.151G>A c.(151-153)Ggc>Agc p.G51S PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 51 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) CACCGTGGCCGGCAGTCGGCC 0.637000 8 100 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188907 98188907 + Missense_Mutation SNP G G T TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr3:98188907G>T ENST00000332650.5 + 1 584 c.487G>T c.(487-489)Gta>Tta p.V163L NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGTAGGGCTTGTATTTAGGTT 0.408000 4 120 4.096e-09 4.56411e-09 1 1 0 SYNE2 23224 broad.mit.edu 37 14 64612904 64612904 + Missense_Mutation SNP G G C TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr14:64612904G>C ENST00000357395.3 + 85 15901 c.4757G>C c.(4756-4758)aGt>aCt p.S1586T SYNE2_ENST00000394768.2_Missense_Mutation_p.S1586T|SYNE2_ENST00000358025.3_Missense_Mutation_p.S5201T|SYNE2_ENST00000344113.4_Missense_Mutation_p.S5201T|SYNE2_ENST00000554584.1_Missense_Mutation_p.S5118T|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1835T|ESR2_ENST00000542956.1_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5201 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAACCTGAAAGTGTGATCTCA 0.478000 6 43 0 0 1 0 0 IL17RB 55540 broad.mit.edu 37 3 53883708 53883708 + Missense_Mutation SNP C C A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr3:53883708C>A ENST00000288167.3 + 3 121 c.112C>A c.(112-114)Cat>Aat p.H38N NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 38 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) GATGCTACAACATGATCTAAT 0.488000 4 101 0.00024832 0.000269013 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995349 140995349 + Missense_Mutation SNP C C A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chrX:140995349C>A ENST00000285879.4 + 4 2445 c.2159C>A c.(2158-2160)tCc>tAc p.S720Y MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 720 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGGGAGGACTCCCTCTCTCCT 0.537000 HNSCC(15;0.026) 7 77 0.0293803 0.0301535 1 1 0 ARHGAP1 392 broad.mit.edu 37 11 46703669 46703669 + Silent SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr11:46703669G>A ENST00000311956.4 - 5 478 c.381C>T c.(379-381)caC>caT p.H127H NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 127 CRAL-TRIO. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) TGGTCAGGCCGTGGTGCAGAT 0.607000 6 135 0 0 1 0 0 OR2T7 81458 broad.mit.edu 37 1 248604559 248604560 + Frame_Shift_Ins INS - - TC rs58223479 by1000genomes TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr1:248604559_248604560insTC ENST00000460972.3 + 1 52_53 c.52_53insTC c.(52-54)cttfs p.L18fs olfactory receptor, family 2, subfamily T, member 7 TTCCCCTGGCTTCTTTGCCCTC 0.515 3 2 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 3 5 --- --- --- --- FLYWCH1 84256 broad.mit.edu 37 16 2983952 2983952 + Frame_Shift_Del DEL C C - TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e 1c720c94-81ab-428f-916b-db6bb48c969f g.chr16:2983952delC ENST00000399667.2 + 6 1848 c.1485delC c.(1483-1485)cgfs p.R495fs FLYWCH1_ENST00000253928.9_Frame_Shift_Del_p.R495fs|FLYWCH1_ENST00000416288.2_Frame_Shift_Del_p.R494fs Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 495 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 GGGAGAAACGCCCCAACACGG 0.716 2 4 --- --- --- ---