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 HFM1 164045 broad.mit.edu 37 1 91843738 91843738 + Silent SNP T T A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr1:91843738T>A ENST00000370425.3 - 11 1337 c.1239A>T c.(1237-1239)gtA>gtT p.V413V HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 413 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding p.V413V(1) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTACAATATGTACCTAAGCAG 0.274 5 89 --- --- --- --- THUMPD2 80745 broad.mit.edu 37 2 39982551 39982551 + Splice_Site SNP T T A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr2:39982551T>A ENST00000505747.1 - 8 991 c.e8-2 THUMPD2_ENST00000260619.6_Splice_Site NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) ATACACATCCTATGGGGAAAT 0.323 4 77 --- --- --- --- KDM3A 55818 broad.mit.edu 37 2 86705343 86705343 + Missense_Mutation SNP C C T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr2:86705343C>T ENST00000409556.1 + 15 2508 c.2143C>T c.(2143-2145)Cat>Tat p.H715Y KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 715 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.H715Y(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 GAGTCAGATACATGAACCAGA 0.408 27 159 --- --- --- --- IL1RL2 8808 broad.mit.edu 37 2 102842427 102842427 + Missense_Mutation SNP A A T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr2:102842427A>T ENST00000264257.2 + 9 1187 c.1061A>T c.(1060-1062)tAc>tTc p.Y354F IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F|IL1RL2_ENST00000481806.1_3'UTR NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 354 cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity p.Y236F(1)|p.Y354F(1) breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 TCTGTTGTGTACATATACAAC 0.383 5 82 --- --- --- --- LY75 4065 broad.mit.edu 37 2 160688257 160688257 + Silent SNP C C T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr2:160688257C>T ENST00000263636.4 - 28 3909 c.3882G>A c.(3880-3882)gaG>gaA p.E1294E LY75_ENST00000554112.1_Silent_p.E1294E|LY75-CD302_ENST00000505052.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E NM_002349.3 NP_002340.2 lymphocyte antigen 75 p.E1294E(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) CAAAGTTATTCTCCTTTTCAT 0.294 6 165 --- --- --- --- TMEM198 130612 broad.mit.edu 37 2 220414063 220414063 + Missense_Mutation SNP A A G TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr2:220414063A>G ENST00000344458.2 + 5 1517 c.932A>G c.(931-933)gAc>gGc p.D311G TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G Q66K66 TM198_HUMAN transmembrane protein 198 311 integral to membrane p.D311G(2) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TTCAATGGAGACGTCCTCTCC 0.632 3 61 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1427451 1427451 + Missense_Mutation SNP C C T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr3:1427451C>T ENST00000446702.2 + 20 3301 c.2674C>T c.(2674-2676)Ccc>Tcc p.P892S CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S Q9UQ52 CNTN6_HUMAN contactin 6 892 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.P892S(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GCCCTCAAGCCCCCCAGTCAA 0.453 7 240 --- --- --- --- DAG1 1605 broad.mit.edu 37 3 49570280 49570280 + Missense_Mutation SNP G G A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr3:49570280G>A ENST00000545947.1 + 6 3058 c.2336G>A c.(2335-2337)cGg>cAg p.R779Q DAG1_ENST00000539901.1_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q NM_001177634.2 NP_001171105 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 779 cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding p.R779Q(1) NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CGCAAGAAGCGGAAGGGCAAG 0.572 3 62 --- --- --- --- SPATA12 353324 broad.mit.edu 37 3 57108293 57108293 + Nonstop_Mutation SNP T T A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr3:57108293T>A ENST00000334325.1 + 2 1246 c.571T>A c.(571-573)Taa>Aaa p.*191K ARHGEF3_ENST00000338458.4_Intron NM_181727.1 NP_859078.1 Q7Z6I5 SPT12_HUMAN spermatogenesis associated 12 0 large_intestine(2)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129) CACACATCTGTAATCAATAAT 0.512 7 233 --- --- --- --- WDR52 55779 broad.mit.edu 37 3 113152410 113152410 + Splice_Site SNP A A T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr3:113152410A>T ENST00000393845.2 - 2 167 c.e2+1 WDR52_ENST00000295868.2_Splice_Site|WDR52-AS1_ENST00000498480.1_RNA NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 p.?(1) breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 ATCTTTACTTACATCTTGATT 0.299 8 206 --- --- --- --- ZBTB38 253461 broad.mit.edu 37 3 141161343 141161343 + Missense_Mutation SNP T T C TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr3:141161343T>C ENST00000514251.1 + 4 392 c.113T>C c.(112-114)aTt>aCt p.I38T ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 38 BTB. positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I38T(1) breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 GTCACTATCATTGTGGAAGAT 0.428 10 387 --- --- --- --- EPHA5 2044 broad.mit.edu 37 4 66356112 66356112 + Missense_Mutation SNP A A T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr4:66356112A>T ENST00000273854.3 - 5 1985 c.1385T>A c.(1384-1386)gTa>gAa p.V462E EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 462 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.V462E(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ATTTGTGGTTACATTTACAGA 0.473 TSP Lung(17;0.13) 6 91 --- --- --- --- CSN1S1 1446 broad.mit.edu 37 4 70798273 70798273 + Translation_Start_Site SNP C C A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr4:70798273C>A ENST00000246891.4 + 0 49 CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000505782.1_5'Flank|CSN1S1_ENST00000444405.3_De_novo_Start_InFrame|CSN1S1_ENST00000507772.1_5'Flank NM_001890.1 NP_001881.1 P47710 CASA1_HUMAN casein alpha s1 extracellular region protein binding|transporter activity lung(5)|prostate(1)|upper_aerodigestive_tract(1) 7 CTCTGATAACCATGAGGCTTC 0.353 4 21 --- --- --- --- UFL1 23376 broad.mit.edu 37 6 96974309 96974309 + Missense_Mutation SNP C C G TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr6:96974309C>G ENST00000369278.4 + 5 529 c.463C>G c.(463-465)Cag>Gag p.Q155E NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 155 Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity CTTTCTGACACAGGTATTTTT 0.368 4 150 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152536125 152536125 + Missense_Mutation SNP G G A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr6:152536125G>A ENST00000367255.5 - 122 22863 c.22262C>T c.(22261-22263)cCc>cTc p.P7421L SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7421 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.P7421L(3) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATCATTCAAGGGTAACCTATA 0.398 HNSCC(10;0.0054) 13 269 --- --- --- --- ATP6V0A4 50617 broad.mit.edu 37 7 138437474 138437474 + Silent SNP G G A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr7:138437474G>A ENST00000310018.2 - 11 1207 c.925C>T c.(925-927)Ctg>Ttg p.L309L ATP6V0A4_ENST00000353492.4_Silent_p.L309L|ATP6V0A4_ENST00000393054.1_Silent_p.L309L NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 309 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity p.L309L(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CACATGTTCAGGATGTGGTAG 0.572 4 137 --- --- --- --- BTBD10 84280 broad.mit.edu 37 11 13424827 13424827 + Splice_Site SNP T T A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr11:13424827T>A ENST00000278174.5 - 8 1252 c.e8-2 BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 nucleus p.?(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) TATAAATAACTAGAAACAAAA 0.294 8 192 --- --- --- --- MRGPRX4 117196 broad.mit.edu 37 11 18195494 18195494 + Missense_Mutation SNP C C T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr11:18195494C>T ENST00000314254.3 + 1 1111 c.691C>T c.(691-693)Ccc>Tcc p.P231S RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 231 integral to membrane|plasma membrane G-protein coupled receptor activity p.P231S(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CTGCGGCCTGCCCTTCGGCAT 0.532 21 99 --- --- --- --- UEVLD 55293 broad.mit.edu 37 11 18579845 18579845 + Silent SNP G G C TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr11:18579845G>C ENST00000396197.3 - 7 673 c.645C>G c.(643-645)ctC>ctG p.L215L UEVLD_ENST00000543987.1_Silent_p.L215L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Silent_p.L115L|UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000379387.4_Silent_p.L193L NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 215 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 p.L215L(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TCCCTTCTGAGAGGTCTAAGA 0.413 7 106 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46322640 46322640 + Missense_Mutation SNP T T A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr12:46322640T>A ENST00000369367.3 - 11 1077 c.844A>T c.(844-846)Act>Tct p.T282S SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000465950.1_5'UTR NM_004719.2 NP_004710.2 Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 282 spliceosome assembly nucleus protein binding|zinc ion binding p.T282S(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TTGCAAGAAGTACCtaataat 0.308 6 123 --- --- --- --- DIP2B 57609 broad.mit.edu 37 12 51089055 51089055 + Silent SNP A A T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr12:51089055A>T ENST00000301180.5 + 15 1759 c.1725A>T c.(1723-1725)gtA>gtT p.V575V NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 575 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TTCAGAATGTAATGAATAAGA 0.333 7 234 --- --- --- --- TIMELESS 8914 broad.mit.edu 37 12 56811998 56811998 + Missense_Mutation SNP T T C TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr12:56811998T>C ENST00000229201.4 - 27 3525 c.3371A>G c.(3370-3372)cAc>cGc p.H1124R TIMELESS_ENST00000553532.1_Missense_Mutation_p.H1125R|TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 1125 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin p.H1125R(1) NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CTCTTTACAGTGCTCCTCATC 0.582 90 562 --- --- --- --- RNF17 56163 broad.mit.edu 37 13 25376711 25376711 + Splice_Site SNP T T A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr13:25376711T>A ENST00000255324.5 + 14 2001 c.e14+2 RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.?(4) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACTAGCAAAGTAAGTAACTTA 0.323 8 170 --- --- --- --- KBTBD7 84078 broad.mit.edu 37 13 41767606 41767606 + Missense_Mutation SNP T T C TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr13:41767606T>C ENST00000379483.3 - 1 1096 c.788A>G c.(787-789)aAg>aGg p.K263R NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 263 protein binding p.K263R(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GCGCACGCACTTGAAGACTTC 0.537 4 114 --- --- --- --- THBS1 7057 broad.mit.edu 37 15 39874829 39874829 + Missense_Mutation SNP A A G TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr15:39874829A>G ENST00000260356.5 + 3 668 c.503A>G c.(502-504)tAc>tGc p.Y168C NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 168 TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding p.Y168C(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GCCCAGCTGTACATCGACTGT 0.562 5 84 --- --- --- --- PPIP5K1 9677 broad.mit.edu 37 15 43827082 43827082 + Silent SNP G G A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr15:43827082G>A ENST00000420765.1 - 31 4274 c.4092C>T c.(4090-4092)acC>acT p.T1364T PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T|PPIP5K1_ENST00000396923.3_Silent_p.T1364T|PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000348806.6_Silent_p.T1337T NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1364 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity p.T1364T(1) large_intestine(1) 1 CTTCTACAAGGGTTTCCTGGA 0.577 8 217 --- --- --- --- MYH8 4626 broad.mit.edu 37 17 10310244 10310244 + Missense_Mutation SNP A A G TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr17:10310244A>G ENST00000403437.2 - 18 2112 c.2018T>C c.(2017-2019)gTa>gCa p.V673A RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 673 Actin-binding.|Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.V673A(1) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GATACACCGTACGAAGTGAGG 0.383 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 22 126 --- --- --- --- ROCK1 6093 broad.mit.edu 37 18 18586746 18586746 + Missense_Mutation SNP T T A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr18:18586746T>A ENST00000399799.2 - 15 2492 c.1552A>T c.(1552-1554)Aca>Tca p.T518S NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity p.T518S(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TCCTTTAATGTAGAAACTAGA 0.308 7 202 --- --- --- --- ZNRF4 148066 broad.mit.edu 37 19 5456787 5456787 + Nonsense_Mutation SNP C C T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr19:5456787C>T ENST00000222033.4 + 1 1362 c.1285C>T c.(1285-1287)Cag>Tag p.Q429* NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 429 integral to membrane zinc ion binding p.Q429*(1) NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GGCCCCTGGTCAGTAAAGATC 0.582 9 37 --- --- --- --- SLC6A16 28968 broad.mit.edu 37 19 49812329 49812329 + Missense_Mutation SNP G G T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr19:49812329G>T ENST00000454748.3 - 7 1234 c.1033C>A c.(1033-1035)Caa>Aaa p.Q345K SLC6A16_ENST00000335875.4_Missense_Mutation_p.Q345K Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 345 integral to membrane|intracellular neurotransmitter:sodium symporter activity p.Q345K(1) NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GACAAAACTTGACCCCCTGCT 0.483 8 279 --- --- --- --- SYNJ1 8867 broad.mit.edu 37 21 34066614 34066614 + Missense_Mutation SNP T T A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr21:34066614T>A ENST00000382499.2 - 6 829 c.830A>T c.(829-831)tAc>tTc p.Y277F SYNJ1_ENST00000322229.7_Missense_Mutation_p.Y238F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 238 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GTCATCTAAGTACACAACCTA 0.323 4 73 --- --- --- --- CSTB 1476 broad.mit.edu 37 21 45194208 45194208 + Missense_Mutation SNP G G A TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chr21:45194208G>A ENST00000291568.5 - 3 347 c.172C>T c.(172-174)Cac>Tac p.H58Y NM_000100.3 NP_000091.1 P04080 CYTB_HUMAN cystatin B (stefin B) 58 cytoplasm|nucleolus cysteine-type endopeptidase inhibitor activity|protease binding p.H58Y(1) lung(1)|prostate(1) 2 STAD - Stomach adenocarcinoma(101;0.168) TCGCCGACGTGCACCTGGGAA 0.537 21 118 --- --- --- --- VSIG4 11326 broad.mit.edu 37 X 65252421 65252421 + Missense_Mutation SNP T T C TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75dbdfe2-f446-463e-847c-885759682c43 b4bf3137-c8ca-4491-bbfc-3d864e521faf g.chrX:65252421T>C ENST00000455586.2 - 3 709 c.583A>G c.(583-585)Acc>Gcc p.T195A VSIG4_ENST00000374737.4_Missense_Mutation_p.T195A|VSIG4_ENST00000412866.2_Intron NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 195 Ig-like 2. complement activation, alternative pathway integral to membrane protein binding p.T195A(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAGAGTAAGGTACTTAGGGTT 0.498 6 66 --- --- --- ---