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 NEB 4703 broad.mit.edu 37 2 152501079 152501079 + Missense_Mutation SNP C C A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr2:152501079C>A ENST00000427231.2 - 56 7749 c.7547G>T c.(7546-7548)cGa>cTa p.R2516L NEB_ENST00000604864.1_Missense_Mutation_p.R2516L|NEB_ENST00000409198.1_Missense_Mutation_p.R2516L|NEB_ENST00000172853.10_Missense_Mutation_p.R2516L|NEB_ENST00000397345.3_Missense_Mutation_p.R2516L|NEB_ENST00000603639.1_Missense_Mutation_p.R2516L NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2516 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATAACCCATTCGGTAGAGTTT 0.388000 3 126 0.115264 0.124229 0.115264 1 0 ARNT2 9915 broad.mit.edu 37 15 80845046 80845046 + Silent SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr15:80845046G>A ENST00000533983.1 + 11 1326 c.987G>A c.(985-987)cgG>cgA p.R329R ARNT2_ENST00000303329.4_Silent_p.R340R|ARNT2_ENST00000527771.1_Silent_p.R329R Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 340 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TCTTATCCCGGCATAACTCCG 0.483000 5 210 0 0 0.184627 0 0 GNB2 2783 broad.mit.edu 37 7 100275401 100275401 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr7:100275401G>A ENST00000303210.4 + 7 939 c.457G>A c.(457-459)Gat>Aat p.D153N GNB2_ENST00000393924.1_Missense_Mutation_p.D153N|GNB2_ENST00000427895.1_Missense_Mutation_p.D53N|GNB2_ENST00000419828.1_Missense_Mutation_p.D53N|GNB2_ENST00000424361.1_Missense_Mutation_p.D109N|GNB2_ENST00000436220.1_Missense_Mutation_p.D109N|GNB2_ENST00000393926.1_Missense_Mutation_p.D153N NM_005273.3 NP_005264.2 P62879 GBB2_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2 153 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity endometrium(1)|lung(3)|ovary(2)|prostate(1) 7 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) CCGCTTCCTGGATGACAACCA 0.627000 46 42 0 0 0.870114 0 0 PLG 5340 broad.mit.edu 37 6 161155067 161155067 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:161155067G>A ENST00000308192.9 + 13 1691 c.1628G>A c.(1627-1629)tGc>tAc p.C543Y NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 543 Kringle 5. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGTCCCTGGTGCTACACGACA 0.473000 30 31 0 0 0.750413 0 0 ACTN1 87 broad.mit.edu 37 14 69349260 69349260 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr14:69349260G>A ENST00000193403.6 - 16 2251 c.1868C>T c.(1867-1869)gCc>gTc p.A623V ACTN1_ENST00000376839.3_Missense_Mutation_p.A558V|ACTN1_ENST00000394419.4_Missense_Mutation_p.A623V|ACTN1_ENST00000538545.2_Missense_Mutation_p.A623V|ACTN1_ENST00000438964.2_Missense_Mutation_p.A623V NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 623 Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding p.A623V(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTGCTGTCGGGCATGCTCCTC 0.612000 5 129 0 0 0.184627 0 0 RPAP1 26015 broad.mit.edu 37 15 41828763 41828763 + Missense_Mutation SNP T T C TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr15:41828763T>C ENST00000304330.4 - 3 382 c.266A>G c.(265-267)gAg>gGg p.E89G RPAP1_ENST00000561603.1_Missense_Mutation_p.E89G NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 89 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TTCTGGGTCCTCATCCTCAGG 0.527000 3 216 0 0 0.115264 0 0 GABBR1 2550 broad.mit.edu 37 6 29572395 29572395 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:29572395C>T ENST00000377034.4 - 22 2923 c.2588G>A c.(2587-2589)cGa>cAa p.R863Q GABBR1_ENST00000355973.3_Missense_Mutation_p.R746Q|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Missense_Mutation_p.R746Q|GABBR1_ENST00000377016.4_Missense_Mutation_p.R801Q NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 863 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.R863Q(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) CCATTCCCCTCGGGTGATCAG 0.592000 4 214 0 0 0.150653 0 0 COL3A1 1281 broad.mit.edu 37 2 189854843 189854843 + Nonsense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr2:189854843C>T ENST00000304636.3 + 9 882 c.712C>T c.(712-714)Cga>Tga p.R238* COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R238* NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 238 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.R238*(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TAGACCCGGACGACCTGGAGA 0.383000 35 73 0 0 0.804634 0 0 NUP93 9688 broad.mit.edu 37 16 56872869 56872869 + Missense_Mutation SNP G G T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr16:56872869G>T ENST00000564887.1 + 17 2284 c.1655G>T c.(1654-1656)aGg>aTg p.R552M NUP93_ENST00000542526.1_Missense_Mutation_p.R552M|NUP93_ENST00000569842.1_Missense_Mutation_p.R675M|NUP93_ENST00000308159.5_Missense_Mutation_p.R675M NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 675 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TTCAGGTATAGGGCTCAAGGA 0.393000 4 186 0.00909568 0.0100259 0.150653 1 0 RENBP 5973 broad.mit.edu 37 X 153209359 153209359 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chrX:153209359C>T ENST00000412763.1 - 4 446 c.277G>A c.(277-279)Gca>Aca p.A93T RENBP_ENST00000369997.3_Missense_Mutation_p.A79T|RENBP_ENST00000393700.3_Missense_Mutation_p.A93T P51606 RENBP_HUMAN renin binding protein 93 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) GCTTTTGCTGCGTCCAGAAGC 0.577000 6 0 0 0 0.217242 0 0 HMGCR 3156 broad.mit.edu 37 5 74651207 74651207 + Missense_Mutation SNP C C A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr5:74651207C>A ENST00000287936.4 + 14 1896 c.1740C>A c.(1738-1740)agC>agA p.S580R HMGCR_ENST00000343975.5_Missense_Mutation_p.S527R|HMGCR_ENST00000511206.1_Missense_Mutation_p.S580R NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 580 Catalytic. cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) GAGGTGCCAGCAGCCGAGTCC 0.493000 94 160 8.45e-40 1.01191e-39 0.870114 1 0 ACER1 125981 broad.mit.edu 37 19 6309770 6309770 + Silent SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr19:6309770G>A ENST00000301452.4 - 4 503 c.426C>T c.(424-426)aaC>aaT p.N142N NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 142 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 GGGCGTAGGCGTTGACCGTGG 0.607000 81 109 0 0 0.870114 0 0 C11orf16 56673 broad.mit.edu 37 11 8942935 8942935 + Silent SNP C C A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:8942935C>A ENST00000326053.5 - 6 1438 c.1332G>T c.(1330-1332)ccG>ccT p.P444P C11orf16_ENST00000525780.1_Intron NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 444 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) CTTCCCCTGGCGGGGTCCGCG 0.517000 4 284 0.00909568 0.0100259 0.150653 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 131 0 0 0.115264 0 0 SPAG1 6674 broad.mit.edu 37 8 101206583 101206583 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:101206583C>T ENST00000520508.1 + 10 1467 c.1183C>T c.(1183-1185)Cgt>Tgt p.R395C SPAG1_ENST00000388798.2_Intron|SPAG1_ENST00000251809.3_Intron|SPAG1_ENST00000520643.1_Missense_Mutation_p.R395C Q07617 SPAG1_HUMAN sperm associated antigen 1 0 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TACAGAAATTCGTAATCTATC 0.328000 3 12 0 0 0.115264 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86324547 86324547 + Missense_Mutation SNP T T A rs147197492 TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:86324547T>A ENST00000369622.3 - 11 2299 c.1799A>T c.(1798-1800)cAt>cTt p.H600L RP11-321N4.5_ENST00000503906.1_Intron|SYNCRIP_ENST00000355238.6_Intron NM_001159675.1|NM_006372.4 NP_001153147.1|NP_006363.4 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 600 CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GTTACCAGAATGATCACCACC 0.478000 90 113 0 0 0.870114 0 0 DAGLA 747 broad.mit.edu 37 11 61488167 61488167 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:61488167G>A ENST00000257215.5 + 3 228 c.112G>A c.(112-114)Gtg>Atg p.V38M NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 38 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GATCCTGTCCGTGGTGCTCTT 0.637000 48 60 0 0 0.870114 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41102895 41102895 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr15:41102895C>T ENST00000355341.4 + 6 1267 c.766C>T c.(766-768)Ctg>Ttg p.L256L ZFYVE19_ENST00000336455.5_Silent_p.L246L|ZFYVE19_ENST00000299173.10_Silent_p.L256L|ZFYVE19_ENST00000564258.1_Silent_p.L81L|ZFYVE19_ENST00000570108.1_Silent_p.L233L NM_001077268.1 NP_001070736.1 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 256 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) GACACAGGATCTGCTAACGCA 0.592000 2 8 0 0 0.115264 0 0 DMWD 1762 broad.mit.edu 37 19 46289911 46289911 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr19:46289911C>T ENST00000270223.6 - 3 888 c.843G>A c.(841-843)gcG>gcA p.A281A DMWD_ENST00000377735.3_Silent_p.A281A NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 281 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CCTCACCCACCGCCCACTTGG 0.677000 41 54 0 0 0.827153 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181621 140181621 + Missense_Mutation SNP C C G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr5:140181621C>G ENST00000522353.2 + 1 839 c.839C>G c.(838-840)tCt>tGt p.S280C PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S280C|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCGCGTATTCTTTCAATACG 0.388000 69 78 0 0 0.870114 0 0 ABCG1 9619 broad.mit.edu 37 21 43704767 43704767 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr21:43704767G>A ENST00000398437.1 + 8 1418 c.1270G>A c.(1270-1272)Gcc>Acc p.A424T ABCG1_ENST00000398457.2_Missense_Mutation_p.A280T|ABCG1_ENST00000361802.2_Missense_Mutation_p.A278T|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.A289T|ABCG1_ENST00000398449.3_Missense_Mutation_p.A278T|ABCG1_ENST00000347800.2_Missense_Mutation_p.A275T|ABCG1_ENST00000340588.4_Missense_Mutation_p.A386T P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 278 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) CCAGCCCAGCGCCAAACTCTT 0.637000 7 209 0 0 0.307466 0 0 IFRD2 7866 broad.mit.edu 37 3 50326114 50326114 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr3:50326114C>T ENST00000436390.1 - 13 1549 c.1052G>A c.(1051-1053)cGc>cAc p.R351H IFRD2_ENST00000417626.2_Missense_Mutation_p.R351H|IFRD2_ENST00000336089.4_Missense_Mutation_p.R517H|IFRD2_ENST00000429673.2_Missense_Mutation_p.R415H Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 415 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AAAGCCGAAGCGCACTATCTC 0.597000 18 2 0 0 0.520397 0 0 FZD3 7976 broad.mit.edu 37 8 28384970 28384970 + Missense_Mutation SNP C C A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:28384970C>A ENST00000240093.3 + 5 1171 c.693C>A c.(691-693)ttC>ttA p.F231L FZD3_ENST00000537916.1_Missense_Mutation_p.F231L NM_017412.3 NP_059108.1 Q9NPG1 FZD3_HUMAN frizzled family receptor 3 231 canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TCACAAGATTCCGTTATCCTG 0.353000 86 280 5.72486e-32 6.6905e-32 0.870114 1 0 PDE4DIP 9659 broad.mit.edu 37 1 145075769 145075769 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:145075769G>A ENST00000369359.4 - 1 132 c.94C>T c.(94-96)Cgg>Tgg p.R32W PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R32W|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R32W|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R32W Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCCCGGACCGGTAAGGCGTG 0.716000 T PDGFRB MPD 4 209 0 0 0.217242 0 0 FAT4 79633 broad.mit.edu 37 4 126372965 126372965 + Silent SNP A A G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr4:126372965A>G ENST00000394329.3 + 9 10807 c.10794A>G c.(10792-10794)ggA>ggG p.G3598G FAT4_ENST00000335110.5_Silent_p.G1896G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3598 Cadherin 34. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTTCCACAGGAACTGTGCATA 0.428000 125 155 0 0 0.870114 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 100 120 0 0 0.870114 0 0 RASGRP3 25780 broad.mit.edu 37 2 33745738 33745738 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr2:33745738G>A ENST00000403687.3 + 6 1095 c.355G>A c.(355-357)Gac>Aac p.D119N RASGRP3_ENST00000402538.3_Missense_Mutation_p.D119N|RASGRP3_ENST00000407811.1_Missense_Mutation_p.D119N NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 119 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) CAGCCTCATCGACATATCCAG 0.453000 4 216 0 0 0.150653 0 0 CFHR3 10878 broad.mit.edu 37 1 196757510 196757510 + Missense_Mutation SNP G G A rs5002712 TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:196757510G>A ENST00000471440.2 + 4 669 c.595G>A c.(595-597)Gca>Aca p.A199T CFHR3_ENST00000391985.3_Intron|CFHR3_ENST00000367425.4_Missense_Mutation_p.A199T complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 TGGATGGTCAGCACAACCAAT 0.303000 4 221 0 0 0.278610 0 0 FAM179B 23116 broad.mit.edu 37 14 45433445 45433445 + Silent SNP A A G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr14:45433445A>G ENST00000361462.2 + 1 2004 c.1821A>G c.(1819-1821)ggA>ggG p.G607G KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Silent_p.G607G|FAM179B_ENST00000361577.3_Silent_p.G607G Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 607 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 TGGCACATGGAGCAGATACGG 0.493000 4 212 0 0 0.150653 0 0 PEX2 5828 broad.mit.edu 37 8 77896111 77896111 + Missense_Mutation SNP G G T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:77896111G>T ENST00000419564.2 - 4 768 c.304C>A c.(304-306)Caa>Aaa p.Q102K PEX2_ENST00000357039.4_Missense_Mutation_p.Q102K|PEX2_ENST00000522527.1_Missense_Mutation_p.Q102K|PEX2_ENST00000520103.1_Missense_Mutation_p.Q102K NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 102 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 CAGATTTTTTGATTTTTACTG 0.373000 115 57 4.35912e-55 5.28544e-55 0.870114 1 0 ITGAL 3683 broad.mit.edu 37 16 30525152 30525152 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr16:30525152C>T ENST00000356798.6 + 25 3027 c.2847C>T c.(2845-2847)gtC>gtT p.V949V ITGAL_ENST00000358164.5_Silent_p.V865V|ITGAL_ENST00000433423.2_Silent_p.V183V NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 949 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TCCACCAAGTCAAGCACATGT 0.507000 57 74 0 0 0.870114 0 0 RAB2A 5862 broad.mit.edu 37 8 61496839 61496839 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:61496839G>A ENST00000262646.7 + 4 610 c.259G>A c.(259-261)Gat>Aat p.D87N RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Missense_Mutation_p.D87N|RAB2A_ENST00000531289.1_Missense_Mutation_p.D63N NM_002865.2 NP_002856.1 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 87 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity p.D87Y(1) endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) ACTAGTTTACGATATTACACG 0.378000 6 375 0 0 0.217242 0 0 MUC5B 727897 broad.mit.edu 37 11 1263410 1263410 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:1263410C>T ENST00000447027.1 + 31 5367 c.5309C>T c.(5308-5310)aCg>aTg p.T1770M MUC5B_ENST00000529681.1_Missense_Mutation_p.T1767M Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1767 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGGACAGAGACGACAATGAGC 0.617000 31 41 0 0 0.750413 0 0 PRDM9 56979 broad.mit.edu 37 5 23527575 23527575 + Missense_Mutation SNP G G C TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr5:23527575G>C ENST00000296682.3 + 11 2560 c.2378G>C c.(2377-2379)aGt>aCt p.S793T NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 793 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AACCTCCTCAGTCACCAGAGG 0.562000 HNSCC(3;0.000094) 5 581 0 0 0.184627 0 0 TBC1D14 57533 broad.mit.edu 37 4 7016236 7016236 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr4:7016236C>T ENST00000409757.4 + 12 1833 c.1709C>T c.(1708-1710)gCg>gTg p.A570V TBC1D14_ENST00000448507.1_Missense_Mutation_p.A570V|TBC1D14_ENST00000446947.2_Missense_Mutation_p.A217V|TBC1D14_ENST00000451522.2_Missense_Mutation_p.A290V|TBC1D14_ENST00000410031.1_Missense_Mutation_p.A342V NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 570 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 AAATTATTTGCGCATTTCAAG 0.358000 3 66 0 0 0.184627 0 0 KCNT2 343450 broad.mit.edu 37 1 196227545 196227545 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:196227545C>T ENST00000367433.5 - 25 3019 c.2918G>A c.(2917-2919)cGc>cAc p.R973H KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R931H|KCNT2_ENST00000294725.8_Missense_Mutation_p.R997H|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 997 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGTTGAGTTGCGGTGGTTGCT 0.483000 74 100 0 0 0.870114 0 0 CRCT1 54544 broad.mit.edu 37 1 152487926 152487926 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:152487926C>T ENST00000368790.3 + 2 140 c.67C>T c.(67-69)Ccg>Tcg p.P23S NM_019060.2 NP_061933.1 Q9UGL9 CRCT1_HUMAN cysteine-rich C-terminal 1 23 lung(1)|ovary(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGccccgctccgtgtcccgc 0.706000 19 13 0 0 0.557998 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 3 207 0 0 0.150653 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793355 65793355 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:65793355C>T ENST00000312106.5 - 1 633 c.496G>A c.(496-498)Gtg>Atg p.V166M NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 166 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding p.V166M(2) breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 TGGTGGGGCACGCCAGAGGAA 0.582000 71 75 0 0 0.870114 0 0 CCDC114 93233 broad.mit.edu 37 19 48800379 48800379 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr19:48800379C>T ENST00000315396.7 - 14 2549 c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 623 Ser-rich. cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TCTGTGTTTTCTCCGCCCCTG 0.667000 5 234 0 0 0.217242 0 0 ADAL 161823 broad.mit.edu 37 15 43641114 43641114 + Nonsense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr15:43641114C>T ENST00000422466.2 + 11 1217 c.643C>T c.(643-645)Caa>Taa p.Q215* ADAL_ENST00000562188.1_Nonsense_Mutation_p.Q215*|ADAL_ENST00000428046.3_Nonsense_Mutation_p.Q188*|ADAL_ENST00000389651.4_Nonsense_Mutation_p.Q215* Q6DHV7 ADAL_HUMAN adenosine deaminase-like 215 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) GATTCCAAACCAAAAAAAAGA 0.453000 36 61 0 0 0.827153 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 4 52 0 0 0.184627 0 0 CCDC40 55036 broad.mit.edu 37 17 78013852 78013852 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr17:78013852C>T ENST00000397545.4 + 3 362 c.335C>T c.(334-336)aCg>aTg p.T112M CCDC40_ENST00000269318.5_Missense_Mutation_p.T112M|CCDC40_ENST00000374877.3_Missense_Mutation_p.T112M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T112M NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 112 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCTGCAGATACGACTTACCCG 0.527000 89 115 0 0 0.870114 0 0 OCIAD2 132299 broad.mit.edu 37 4 48894854 48894854 + Silent SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr4:48894854G>A ENST00000508632.1 - 6 550 c.318C>T c.(316-318)tgC>tgT p.C106C OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Intron NM_001014446.1 NP_001014446.1 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 106 OCIA. endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 ATTTACTCTGGCATACTCCTA 0.418000 5 324 0 0 0.184627 0 0 AP2A2 161 broad.mit.edu 37 11 994108 994108 + Missense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:994108C>T ENST00000448903.2 + 14 1960 c.1819C>T c.(1819-1821)Cgg>Tgg p.R607W AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.R608W NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 607 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) ATTCCCGGAGCGGGAGTCCTC 0.622000 68 111 0 0 0.870114 0 0 AES 166 broad.mit.edu 37 19 3054133 3054133 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr19:3054133C>T ENST00000221561.8 - 6 737 c.558G>A c.(556-558)ctG>ctA p.L186L AES_ENST00000586839.1_Silent_p.L63L|AES_ENST00000327141.4_Silent_p.L119L|AES_ENST00000592330.1_Intron NM_198969.1 NP_945320.1 Q08117 AES_HUMAN amino-terminal enhancer of split 119 CCN domain. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity lung(8) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGATAGAGTTCAGCTCGGGAG 0.657000 14 17 0 0 0.479597 0 0 EFCAB5 374786 broad.mit.edu 37 17 28417554 28417554 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr17:28417554G>A ENST00000394835.3 + 20 3991 c.3799G>A c.(3799-3801)Gat>Aat p.D1267N EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.D1143N|RP11-1148O4.2_ENST00000582938.1_RNA NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 1267 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GGGAGTCCTCGATTTTAACAT 0.428000 90 109 0 0 0.870114 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79966949 79966949 + Missense_Mutation SNP G G T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr17:79966949G>T ENST00000306729.7 + 8 1067 c.970G>T c.(970-972)Gtg>Ttg p.V324L ASPSCR1_ENST00000580534.1_Missense_Mutation_p.V247L|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.V324L NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 324 Interaction with GLUT4 (By similarity). protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGAGCCGGTGGTGTGCCACCC 0.721000 T TFE3 alveolar soft part sarcoma 10 3 3.07112e-06 3.50469e-06 0.387290 1 0 MACF1 23499 broad.mit.edu 37 1 39907692 39907692 + Silent SNP C C G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:39907692C>G ENST00000564288.1 + 75 19518 c.18741C>G c.(18739-18741)ctC>ctG p.L6247L MACF1_ENST00000372915.3_Silent_p.L6146L|MACF1_ENST00000567887.1_Silent_p.L6284L|MACF1_ENST00000361689.2_Silent_p.L4188L|MACF1_ENST00000545844.1_Silent_p.L4188L|MACF1_ENST00000289893.4_Silent_p.L4690L|MACF1_ENST00000317713.7_Silent_p.L4188L|MACF1_ENST00000539005.1_Silent_p.L4058L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6256 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCACTGACCTCAATACTGTTA 0.353000 3 145 0 0 0.115264 0 0 DHX37 57647 broad.mit.edu 37 12 125432580 125432580 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr12:125432580C>T ENST00000544745.1 - 23 2908 c.2799G>A c.(2797-2799)ctG>ctA p.L933L DHX37_ENST00000308736.2_Intron Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 0 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GCCCCTGCCTCAGTGACCCCA 0.597000 5 86 0 0 0.184627 0 0 MRPL3 11222 broad.mit.edu 37 3 131190031 131190031 + Missense_Mutation SNP C C A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr3:131190031C>A ENST00000264995.3 - 7 869 c.722G>T c.(721-723)gGa>gTa p.G241V MRPL3_ENST00000425847.2_Missense_Mutation_p.G268V NM_007208.3 NP_009139.1 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 241 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 TGCAACAGCTCCAGGTCTCCT 0.423000 8 148 0.00307968 0.00347359 0.278610 1 0 PVRL4 81607 broad.mit.edu 37 1 161043540 161043540 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:161043540C>T ENST00000368012.3 - 7 1505 c.1203G>A c.(1201-1203)ctG>ctA p.L401L PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Silent_p.L135L NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 401 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GATGGGAATGCAGCCTCCGGA 0.622000 5 237 0 0 0.184627 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57077492 57077492 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:57077492G>A ENST00000532437.1 - 5 3004 c.2693C>T c.(2692-2694)gCc>gTc p.A898V TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V|TNKS1BP1_ENST00000530920.1_5'UTR Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 898 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.A898V(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) ATCTTGGCTGGCATAAGCACC 0.532000 5 437 0 0 0.217242 0 0 PIM1 5292 broad.mit.edu 37 6 37140830 37140830 + Silent SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:37140830G>A ENST00000373509.5 + 5 1039 c.666G>A c.(664-666)tcG>tcA p.S222S PIM1_ENST00000468243.1_3'UTR NM_001243186.1|NM_002648.3 NP_001230115.1|NP_002639.1 P11309 PIM1_HUMAN pim-1 oncogene 313 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) ATGGCAGGTCGGCGGCAGTCT 0.522000 T BCL6 NHL 65 97 0 0 0.870114 0 0 DOCK5 80005 broad.mit.edu 37 8 25156591 25156591 + Nonsense_Mutation SNP C C A rs115024120 byFrequency TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:25156591C>A ENST00000276440.7 + 8 782 c.738C>A c.(736-738)taC>taA p.Y246* DOCK5_ENST00000481100.1_Nonsense_Mutation_p.Y246* NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 246 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TGGCCCTCTACGACCCAGACC 0.522000 3 137 0.014758 0.0160846 0.184627 1 0 ZNRF3 84133 broad.mit.edu 37 22 29446410 29446410 + Silent SNP T T G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr22:29446410T>G ENST00000544604.2 + 8 2416 c.2241T>G c.(2239-2241)ggT>ggG p.G747G ZNRF3_ENST00000402174.1_Silent_p.G647G|ZNRF3_ENST00000406323.3_Silent_p.G647G|ZNRF3_ENST00000332811.4_Silent_p.G647G NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 747 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 GCCCGGCGGGTGGGGAGCCCC 0.692000 9 43 0 0 0.834066 0 0 ADAM2 2515 broad.mit.edu 37 8 39624556 39624556 + Missense_Mutation SNP A A T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:39624556A>T ENST00000265708.4 - 14 1421 c.1318T>A c.(1318-1320)Tca>Aca p.S440T ADAM2_ENST00000379853.2_Missense_Mutation_p.S314T|ADAM2_ENST00000347580.4_Missense_Mutation_p.S421T|ADAM2_ENST00000521880.1_Missense_Mutation_p.S440T NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 440 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTTCTTTTGACATAAACTGA 0.343000 331 117 0 0 0.870114 0 0 FNDC1 84624 broad.mit.edu 37 6 159653589 159653589 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:159653589G>A ENST00000297267.9 + 11 2245 c.2045G>A c.(2044-2046)cGc>cAc p.R682H FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 682 Ser-rich. extracellular region p.R682H(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGCGTTCTCCGCGACAGAAGC 0.716000 19 21 0 0 0.706142 0 0 TRAF3 7187 broad.mit.edu 37 14 103363706 103363706 + Nonsense_Mutation SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr14:103363706C>T ENST00000560371.1 + 9 1145 c.928C>T c.(928-930)Cga>Tga p.R310* TRAF3_ENST00000539721.1_Nonsense_Mutation_p.R227*|TRAF3_ENST00000392745.2_Nonsense_Mutation_p.R310*|TRAF3_ENST00000347662.4_Nonsense_Mutation_p.R285*|TRAF3_ENST00000351691.5_Nonsense_Mutation_p.R285* NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 310 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.R310*(1) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) GGAAATGCTTCGAAATAATGA 0.378000 27 7 0 0 0.693898 0 0 ITGAL 3683 broad.mit.edu 37 16 30522385 30522385 + Nonsense_Mutation SNP C C G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr16:30522385C>G ENST00000356798.6 + 24 2894 c.2714C>G c.(2713-2715)tCa>tGa p.S905* ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S821*|ITGAL_ENST00000433423.2_Nonsense_Mutation_p.S139* NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 905 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) AATGAGGACTCAGACCTCCTG 0.567000 53 72 0 0 0.870114 0 0 PKNOX2 63876 broad.mit.edu 37 11 125301145 125301145 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:125301145G>A ENST00000298282.9 + 13 1547 c.1276G>A c.(1276-1278)Gat>Aat p.D426N PKNOX2_ENST00000542175.1_Missense_Mutation_p.D362N|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 426 Asp/Glu-rich (acidic). nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) GGCTGCACACGATGACTCATT 0.552000 18 29 0 0 0.557998 0 0 RHOU 58480 broad.mit.edu 37 1 228879110 228879110 + Missense_Mutation SNP T T C TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:228879110T>C ENST00000366691.3 + 3 1066 c.400T>C c.(400-402)Tca>Cca p.S134P NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 134 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) CGTGAGCCCCTCATCCTTCCA 0.527000 4 423 0 0 0.150653 0 0 RIPK4 54101 broad.mit.edu 37 21 43161351 43161351 + Missense_Mutation SNP A A G TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr21:43161351A>G ENST00000352483.2 - 9 2210 c.2146T>C c.(2146-2148)Tca>Cca p.S716P RIPK4_ENST00000332512.3_Missense_Mutation_p.S668P|RIPK4_ENST00000542057.1_Missense_Mutation_p.S605P|RIPK4_ENST00000544709.1_Missense_Mutation_p.S605P|AP001615.9_ENST00000423276.1_RNA Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 668 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TAGCCGTCTGAGGTCATGGCC 0.687000 82 78 0 0 0.870114 0 0 MAP3K12 7786 broad.mit.edu 37 12 53877172 53877172 + Missense_Mutation SNP T T C rs140537763 TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr12:53877172T>C ENST00000267079.2 - 11 1700 c.1475A>G c.(1474-1476)aAg>aGg p.K492R MAP3K12_ENST00000547035.1_Missense_Mutation_p.K525R|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K525R NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 492 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CACATTCCTCTTCTTGATAAG 0.532000 127 162 0 0 0.870114 0 0 LOC643733 643733 broad.mit.edu 37 11 104776204 104776204 + RNA SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:104776204G>A ENST00000532510.1 - 0 3228 AGGTGGCAGCGCCAGGAATAT 0.438000 68 14 0 0 0.870114 0 0 AP1B1 162 broad.mit.edu 37 22 29747175 29747175 + Silent SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr22:29747175G>A ENST00000357586.2 - 9 1326 c.1140C>T c.(1138-1140)tgC>tgT p.C380C AP1B1_ENST00000402502.1_Silent_p.C380C|AP1B1_ENST00000317368.7_Silent_p.C380C|AP1B1_ENST00000432560.2_Silent_p.C380C|AP1B1_ENST00000405198.1_Silent_p.C380C|AP1B1_ENST00000356015.2_Silent_p.C380C|AP1B1_ENST00000415447.1_Silent_p.C380C NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 380 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CCTTGATGGCGCAGCGGCCAA 0.547000 13 482 0 0 0.520397 0 0 STK35 140901 broad.mit.edu 37 20 2097996 2097996 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr20:2097996G>A ENST00000381482.3 + 3 1848 c.1577G>A c.(1576-1578)aGa>aAa p.R526K STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.R393K Q8TDR2 STK35_HUMAN serine/threonine kinase 35 526 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2) 13 CTTGAAACCAGAATGGACCAG 0.438000 65 10 0 0 0.870114 0 0 SOGA3 387104 broad.mit.edu 37 6 127796906 127796906 + Silent SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr6:127796906G>A ENST00000556132.1 - 6 3129 c.2265C>T c.(2263-2265)agC>agT p.S755S SOGA3_ENST00000368268.2_Silent_p.S755S|SOGA3_ENST00000465909.2_Silent_p.S755S|SOGA3_ENST00000525778.1_Silent_p.S755S|SOGA3_ENST00000481848.2_Silent_p.S755S NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 755 integral to membrane TGCCCGCGTCGCTCTCGGCGT 0.692000 94 99 0 0 0.870114 0 0 ZIM2 23619 broad.mit.edu 37 19 57286109 57286109 + Missense_Mutation SNP G G T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr19:57286109G>T ENST00000391708.3 - 12 2073 c.1531C>A c.(1531-1533)Caa>Aaa p.Q511K ZIM2_ENST00000593711.1_Missense_Mutation_p.Q511K|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q511K|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q511K|ZIM2_ENST00000599935.1_Missense_Mutation_p.Q511K NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) TGATAATGTTGAGTGAGGTAT 0.423000 64 66 4.83677e-39 5.72155e-39 0.870114 1 0 TMEM86A 144110 broad.mit.edu 37 11 18723189 18723189 + Missense_Mutation SNP G G T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:18723189G>T ENST00000280734.2 + 3 452 c.356G>T c.(355-357)cGg>cTg p.R119L TMEM86A_ENST00000527002.1_3'UTR NM_153347.1 NP_699178.1 Q8N2M4 TM86A_HUMAN transmembrane protein 86A 119 integral to membrane endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2) 11 CTGGCTCTTCGGACAGGTCTG 0.612000 58 73 2.56585e-57 3.15047e-57 0.870114 1 0 CSMD1 64478 broad.mit.edu 37 8 3245095 3245095 + Silent SNP C C T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr8:3245095C>T ENST00000520002.1 - 19 3261 c.2706G>A c.(2704-2706)ccG>ccA p.P902P CSMD1_ENST00000542608.1_Silent_p.P901P|CSMD1_ENST00000539096.1_Silent_p.P901P|CSMD1_ENST00000537824.1_Silent_p.P901P|CSMD1_ENST00000602723.1_Silent_p.P902P|CSMD1_ENST00000400186.3_Silent_p.P902P|CSMD1_ENST00000602557.1_Silent_p.P902P Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 902 Sushi 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTGTGTACCCCGGGTCACAGC 0.607000 14 18 0 0 0.435327 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709588 128709588 + Missense_Mutation SNP C C A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:128709588C>A ENST00000392665.2 - 2 695 c.551G>T c.(550-552)cGg>cTg p.R184L KCNJ1_ENST00000392664.2_Missense_Mutation_p.R203L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R184L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R184L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R184L NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 203 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity p.R203Q(1) breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CTTCCCTCCCCGTTTGCTGAT 0.478000 4 194 0.150653 0.160587 0.150653 1 0 ARMC3 219681 broad.mit.edu 37 10 23270411 23270411 + Missense_Mutation SNP C C G rs146538646 TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr10:23270411C>G ENST00000298032.5 + 9 1143 c.1059C>G c.(1057-1059)ttC>ttG p.F353L ARMC3_ENST00000409049.3_Missense_Mutation_p.F353L|ARMC3_ENST00000376528.4_Missense_Mutation_p.F90L|ARMC3_ENST00000409983.3_Missense_Mutation_p.F353L NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 353 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AAGATTTTTTCAATAATCAGG 0.363000 57 62 0 0 0.870114 0 0 OSBP 5007 broad.mit.edu 37 11 59367971 59367971 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:59367971G>A ENST00000263847.1 - 7 1788 c.1309C>T c.(1309-1311)Ccg>Tcg p.P437S NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 437 Sterol binding (By similarity). lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AACCTTACCGGCATGGGGATC 0.488000 4 258 0 0 0.184627 0 0 SLC16A4 9122 broad.mit.edu 37 1 110906426 110906427 + Frame_Shift_Ins INS - - A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:110906426_110906427insA ENST00000369779.4 - 9 1674_1675 c.1425_1426insT c.(1423-1428)tttaccfs p.T476fs SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.T414fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs|SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.T428fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.T308fs NM_001201547.1|NM_004696.2 NP_001188476.1|NP_004687.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 476 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity p.F475fs*12(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) GCCAATGGTACAAAAAAAAAGG 0.391 10 179 --- --- --- --- KPRP 448834 broad.mit.edu 37 1 152732518 152732520 + In_Frame_Del DEL AAC AAC - TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:152732518_152732520delAAC ENST00000368773.1 + 2 512_514 c.454_456delAAC c.(454-456)del p.N152del KPRP_ENST00000606109.1_In_Frame_Del_p.N152del NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 152 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCAGTCCAGAACTATGTACCCT 0.507 96 129 --- --- --- --- IRF2BP2 359948 broad.mit.edu 37 1 234743346 234743348 + In_Frame_Del DEL TTG TTG - TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr1:234743346_234743348delTTG ENST00000366609.3 - 2 1329_1331 c.1299_1301delCAA c.(1297-1302)gat>ga p.DN433del RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_In_Frame_Del_p.DN417del NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) GCCCCCTGCATTGTCTGCTACTA 0.581 100 182 --- --- --- --- LINC01515 101928913 broad.mit.edu 37 10 67367791 67367794 + RNA DEL TTCT TTCT - TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr10:67367791_67367794delTTCT ENST00000433152.3 + 0 594 tctttctttcttctttctttcttt 0.397 3 5 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651228 + In_Frame_Del DEL AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - rs35089393 by1000genomes TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC ENST00000399676.2 + 1 167_196 c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC c.(127-159)ggg>gg p.GGCGGCGSGCA43del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg 0.691 189 40 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794772 55794773 + Frame_Shift_Ins INS - - T TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr12:55794772_55794773insT ENST00000379665.2 + 1 559_560 c.460_461insT c.(460-462)tttfs p.F154fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TTTTCTCATTATTTTTCCCCCC 0.436 22 402 --- --- --- --- LOC105369922 105369922 broad.mit.edu 37 12 96221820 96221823 + RNA DEL AGGA AGGA - TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr12:96221820_96221823delAGGA ENST00000553194.1 - 0 154 agagaaagagaggaaggaaggaag 0.485 2 4 --- --- --- --- SELPLG 6404 broad.mit.edu 37 12 109017425 109017454 + In_Frame_Del DEL TCCATGGCTGCTGGTGGAGTGGTCTGTGCT TCCATGGCTGCTGGTGGAGTGGTCTGTGCT - rs139943851 byFrequency TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr12:109017425_109017454delTCCATGGCTGCTGGTGGAGTGGTCTGTGCT ENST00000388962.3 - 3 759_788 c.600_629delAGCACAGACCACTCCACCAGCAGCCATGGA c.(598-630)gag>ga p.EAQTTPPAAME200del SELPLG_ENST00000550948.1_In_Frame_Del_p.EAQTTPPAAME210del|SELPLG_ENST00000228463.6_In_Frame_Del_p.EAQTTPPAAME226del NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 210 12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 GGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTG 0.622 42 238 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 7 963 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54676754 54676755 + Frame_Shift_Ins INS - - C TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd93146-1026-4362-982b-d1fc70e3c65d 6905336e-7cc4-4b72-a515-fda1b8dd7006 g.chr19:54676754_54676755insC ENST00000376591.4 - 1 189_190 c.58_59insG c.(58-60)cccfs p.P20fs TMC4_ENST00000301187.4_Frame_Shift_Ins_p.P20fs NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 20 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CTCCCGGGGGGCCAGCCACCCC 0.634 34 722 --- --- --- ---